├── LICENSE ├── Makefile ├── README.md ├── data ├── cancerhotspots_v2_GRCh37.tsv └── cancerhotspots_v2_GRCh38.tsv └── src └── somaticfreq.c /LICENSE: -------------------------------------------------------------------------------- 1 | MIT License 2 | 3 | Copyright (c) 2021 Anand Mayakonda 4 | 5 | Permission is hereby granted, free of charge, to any person obtaining a copy 6 | of this software and associated documentation files (the "Software"), to deal 7 | in the Software without restriction, including without limitation the rights 8 | to use, copy, modify, merge, publish, distribute, sublicense, and/or sell 9 | copies of the Software, and to permit persons to whom the Software is 10 | furnished to do so, subject to the following conditions: 11 | 12 | The above copyright notice and this permission notice shall be included in all 13 | copies or substantial portions of the Software. 14 | 15 | THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, EXPRESS OR 16 | IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES OF MERCHANTABILITY, 17 | FITNESS FOR A PARTICULAR PURPOSE AND NONINFRINGEMENT. IN NO EVENT SHALL THE 18 | AUTHORS OR COPYRIGHT HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER 19 | LIABILITY, WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING FROM, 20 | OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR OTHER DEALINGS IN THE 21 | SOFTWARE. 22 | -------------------------------------------------------------------------------- /Makefile: -------------------------------------------------------------------------------- 1 | CC ?= gcc 2 | CFLAGS ?= -Wall -g -O3 -pthread 3 | 4 | somaticfreq: src/somaticfreq.c 5 | $(CC) $(CFLAGS) src/somaticfreq.c -lhts -o somaticfreq 6 | 7 | -------------------------------------------------------------------------------- /README.md: -------------------------------------------------------------------------------- 1 | ## somaticfreq: knowledge-based genotyping of targetted somatic variants from the tumor BAM file 2 | 3 | `somaticfreq` allows rapid (kind of) genotyping of known somatic variants from the tumor BAM files. This facilitates to get a quick overlook of known somatic hot-spots in a matter of minutes, without spending hours on variant calling and annotation. In simple words, it fetches nucleotide frequencies of known somatic hotspots and prioritizes them based on allele frequency. Output includes a browsable/sharable HTML report of candidate variants (an [example](https://poisonalien.github.io/STAR_wrapper_script/)). See below for data sources. 4 | 5 | ### Installation: 6 | 7 | Clone the repository and run `make`. Requires [htslib](https://github.com/samtools/htslib). 8 | 9 | ``` 10 | git clone https://github.com/PoisonAlien/somaticfreq 11 | cd somaticfreq 12 | make 13 | ``` 14 | 15 | ### Usage: 16 | 17 | `somaticfreq` takes a tsv file of known somatic variants and a BAM file as input. 18 | 19 | ``` 20 | $ somaticreq 21 | somaticfreq: A tool to extract nucleotide counts/variant allele frequencies 22 | of targeted (somatic) variants from the BAM file 23 | USAGE: 24 | somaticfreq [OPTIONS] 25 | e.g; somaticfreq cancerhotspots_v2_GRCh37.tsv Tumor.bam 26 | OPTIONS: 27 | -f Indexed fasta file. If provided, extracts and adds reference base to the output tsv 28 | -q Mapping quality threshold. Default 10 [Read filter] 29 | -F Exclude reads with FLAGS >= INT. Default 1024 (i.e, read is PCR or optical duplicate) [Read filter] 30 | -v VAF threshold. Default 0.05 [Variant filter] 31 | -d Depth of coverage threshold. Default 30 [Variant filter] 32 | -t Min. number of reads supporting tumor allele. Default 8 [Variant filter] 33 | -o Output file basename. Default parses from basename of BAM file 34 | ARGS: 35 | variant file 36 | Indexed BAM file 37 | OUPUT: 38 | .html A browsable html report of variants post filtering 39 | .tsv TSV file with nucletide counts and VAF for all variants 40 | ``` 41 | 42 | Example: 43 | ``` 44 | $ somaticfreq data/cancerhotspots_v2_GRCh37.tsv Tumor.bam 45 | ``` 46 | 47 | ### Output 48 | 49 | Output includes a browsable HTML file with variants passing the VAF/read depth filters and, a TSV file including nucleotide counts of all variants analyzed. 50 | 51 | * Example report from a [metastatic breast cancer](https://poisonalien.github.io/STAR_wrapper_script/) sample 52 | 53 | ### Data sources: 54 | 55 | 1. Known [cancerhotspots](https://www.cancerhotspots.org/#/download) are [included](https://github.com/PoisonAlien/somaticfreq/tree/main/data) as a part of this repository for both GRCh37 and GRCh38 assemblies (3180 variants). This should be sufficient and cover most of the known driver genes/events. 56 | 2. COSMIC database provides a comprehensive list of PATHOGENIC, non-SNP, and confirmed SOMATIC variants (approx. 90K variants). You can download the tsv file from [here](https://cancer.sanger.ac.uk/cosmic/download) and use this [R script](https://gist.github.com/PoisonAlien/fa4199e34a089a873820fd46eba028df) to filter and convert it to the input format for `somaticfreq`. (Requires free registration and free for academic usage). 57 | 3. You can also create your own custom database of variants. Look at one of the [example files](https://github.com/PoisonAlien/somaticfreq/tree/main/data) for an example. Positions are in the 1-based coordinate system. 58 | 59 | ### References 60 | 61 | 1. Chang MT, Asthana S, Gao SP, et al. Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. Nat Biotechnol. 2016;34(2):155-163. doi:10.1038/nbt.3391 62 | -------------------------------------------------------------------------------- /data/cancerhotspots_v2_GRCh37.tsv: -------------------------------------------------------------------------------- 1 | 1 2491289 G A TNFRSF14 Missense_Mutation C111Y deleterious(0) 2 | 1 2491290 C G TNFRSF14 Missense_Mutation C111W deleterious(0) 3 | 1 8073432 T G ERRFI1 Missense_Mutation K409N deleterious(0) 4 | 1 8073434 T G ERRFI1 Missense_Mutation K409Q deleterious(0.04) 5 | 1 8074313 T A ERRFI1 Nonsense_Mutation K116* "" 6 | 1 9779982 T C PIK3CD Missense_Mutation C416R tolerated(0.26) 7 | 1 9784113 G A PIK3CD Missense_Mutation R894Q deleterious(0) 8 | 1 9787030 G A PIK3CD Missense_Mutation E1021K deleterious(0) 9 | 1 11169375 A C MTOR Missense_Mutation I2500M deleterious(0) 10 | 1 11169376 A T MTOR Missense_Mutation I2500N deleterious(0) 11 | 1 11169377 T A MTOR Missense_Mutation I2500F deleterious(0) 12 | 1 11174395 A C MTOR Missense_Mutation L2427R deleterious(0) 13 | 1 11174395 A T MTOR Missense_Mutation L2427Q deleterious(0) 14 | 1 11177096 C T MTOR Missense_Mutation M2327I deleterious(0) 15 | 1 11177098 T C MTOR Missense_Mutation M2327V deleterious(0) 16 | 1 11184573 G A MTOR Missense_Mutation S2215F deleterious(0) 17 | 1 11184573 G T MTOR Missense_Mutation S2215Y deleterious(0) 18 | 1 11184574 A T MTOR Missense_Mutation S2215T tolerated(1) 19 | 1 11188078 C A MTOR Missense_Mutation V2006F deleterious(0) 20 | 1 11188078 C G MTOR Missense_Mutation V2006L deleterious(0) 21 | 1 11188078 C T MTOR Missense_Mutation V2006I deleterious(0) 22 | 1 11188164 G A MTOR Missense_Mutation T1977I deleterious(0) 23 | 1 11188164 G C MTOR Missense_Mutation T1977R deleterious(0) 24 | 1 11188164 G T MTOR Missense_Mutation T1977K deleterious(0) 25 | 1 11188165 T A MTOR Missense_Mutation T1977S deleterious(0) 26 | 1 11188183 C A MTOR Missense_Mutation A1971S deleterious(0) 27 | 1 11188183 C G MTOR Missense_Mutation A1971P deleterious(0) 28 | 1 11188183 C T MTOR Missense_Mutation A1971T deleterious(0) 29 | 1 11189845 G C MTOR Missense_Mutation F1888L deleterious(0.01) 30 | 1 11189847 A C MTOR Missense_Mutation F1888V deleterious(0) 31 | 1 11189847 A G MTOR Missense_Mutation F1888L deleterious(0.01) 32 | 1 11189847 A T MTOR Missense_Mutation F1888I deleterious(0) 33 | 1 11190804 C T MTOR Missense_Mutation E1799K tolerated(0.08) 34 | 1 11217229 G C MTOR Missense_Mutation C1483W deleterious(0) 35 | 1 11217230 C A MTOR Missense_Mutation C1483F deleterious(0) 36 | 1 11217230 C T MTOR Missense_Mutation C1483Y deleterious(0) 37 | 1 11217231 A G MTOR Missense_Mutation C1483R deleterious(0) 38 | 1 11217275 TCCATTTTCTTGTCATAGGCCACAAGGGCA - MTOR DEL A1459_D1468del LoF 39 | 1 11217299 A G MTOR Missense_Mutation L1460P deleterious(0) 40 | 1 11217299 AGGGCATCCTCC - MTOR DEL A1459_D1468del LoF 41 | 1 11217302 G A MTOR Missense_Mutation A1459V deleterious(0) 42 | 1 11217302 G T MTOR Missense_Mutation A1459D deleterious(0) 43 | 1 11217303 C G MTOR Missense_Mutation A1459P deleterious(0) 44 | 1 11217304 - TCCTCCCACTCG MTOR INS A1459_D1468del LoF 45 | 1 11217310 CCACTCGTGCAGTTTCTCATA - MTOR DEL A1459_D1468del LoF 46 | 1 27087503 C T ARID1A Nonsense_Mutation R693* "" 47 | 1 27099008 C T ARID1A Nonsense_Mutation Q1142* "" 48 | 1 27099947 C T ARID1A Nonsense_Mutation R1276* "" 49 | 1 27099948 G A ARID1A Missense_Mutation R1276Q "" 50 | 1 27100207 C T ARID1A Nonsense_Mutation R1335* "" 51 | 1 27101099 C T ARID1A Nonsense_Mutation R1461* "" 52 | 1 27101100 G A ARID1A Missense_Mutation R1461Q "" 53 | 1 27105550 C T ARID1A Nonsense_Mutation R1721* "" 54 | 1 27105553 C T ARID1A Nonsense_Mutation R1722* "" 55 | 1 27106354 C T ARID1A Nonsense_Mutation R1989* "" 56 | 1 27106355 G A ARID1A Missense_Mutation R1989Q "" 57 | 1 27106648 G A ARID1A Missense_Mutation G2087R "" 58 | 1 27106649 G A ARID1A Missense_Mutation G2087E "" 59 | 1 27106861 C T ARID1A Nonsense_Mutation R2158* "" 60 | 1 27106862 G A ARID1A Missense_Mutation R2158Q "" 61 | 1 28605669 A G SESN2 Missense_Mutation I425V tolerated(0.18) 62 | 1 59248409 C G JUN Missense_Mutation E112Q deleterious(0.02) 63 | 1 59248409 C T JUN Missense_Mutation E112K deleterious(0.01) 64 | 1 65305399 A G JAK1 Missense_Mutation L910P deleterious(0) 65 | 1 65305399 AG GA JAK1 Missense_Mutation L910S deleterious(0) 66 | 1 78428510 C T FUBP1 Missense_Mutation R430H deleterious(0) 67 | 1 78428511 G A FUBP1 Missense_Mutation R430C deleterious(0) 68 | 1 85733478 T A BCL10 Missense_Mutation E178D tolerated(0.12) 69 | 1 85733491 A T BCL10 Nonsense_Mutation L174* "" 70 | 1 85733495 T G BCL10 Missense_Mutation N173H deleterious(0.01) 71 | 1 115256528 T A NRAS Missense_Mutation Q61H deleterious(0) 72 | 1 115256529 T A NRAS Missense_Mutation Q61L deleterious(0) 73 | 1 115256529 T C NRAS Missense_Mutation Q61R tolerated(0.06) 74 | 1 115256529 T G NRAS Missense_Mutation Q61P deleterious(0) 75 | 1 115256530 G A NRAS Nonsense_Mutation Q61* "" 76 | 1 115256530 G T NRAS Missense_Mutation Q61K deleterious(0.01) 77 | 1 115256532 C A NRAS Missense_Mutation G60V deleterious(0) 78 | 1 115256532 C T NRAS Missense_Mutation G60E deleterious(0) 79 | 1 115258744 C A NRAS Missense_Mutation G13V deleterious(0.02) 80 | 1 115258744 C T NRAS Missense_Mutation G13D deleterious(0.05) 81 | 1 115258744 CC AA NRAS Missense_Mutation G13F deleterious(0.01) 82 | 1 115258745 C A NRAS Missense_Mutation G13C deleterious(0.02) 83 | 1 115258745 C G NRAS Missense_Mutation G13R deleterious(0) 84 | 1 115258745 C T NRAS Missense_Mutation G13S deleterious(0.02) 85 | 1 115258747 C A NRAS Missense_Mutation G12V deleterious(0) 86 | 1 115258747 C G NRAS Missense_Mutation G12A deleterious(0.02) 87 | 1 115258747 C T NRAS Missense_Mutation G12D deleterious(0) 88 | 1 115258748 C A NRAS Missense_Mutation G12C deleterious(0.04) 89 | 1 115258748 C G NRAS Missense_Mutation G12R deleterious(0.03) 90 | 1 115258748 C T NRAS Missense_Mutation G12S deleterious(0.03) 91 | 1 120458147 G A NOTCH2 Nonsense_Mutation R2400* "" 92 | 1 120539668 T A NOTCH2 Missense_Mutation T235S deleterious(0) 93 | 1 155874261 C T RIT1 Missense_Mutation M90I deleterious(0.02) 94 | 1 155874285 A T RIT1 Missense_Mutation F82L deleterious(0.04) 95 | 1 155874286 A C RIT1 Missense_Mutation F82C deleterious(0) 96 | 1 155874530 C A RIT1 Missense_Mutation A77S deleterious(0) 97 | 1 155874530 C G RIT1 Missense_Mutation A77P deleterious(0) 98 | 1 155874530 C T RIT1 Missense_Mutation A77T deleterious(0.03) 99 | 1 226252135 A G H3F3A Missense_Mutation K28R deleterious_low_confidence(0.02) 100 | 1 226252135 A T H3F3A Missense_Mutation K28M deleterious_low_confidence(0.01) 101 | 1 226252155 G A H3F3A Missense_Mutation G35R deleterious_low_confidence(0.02) 102 | 1 226252155 G T H3F3A Missense_Mutation G35W deleterious_low_confidence(0) 103 | 1 226252156 G T H3F3A Missense_Mutation G35V deleterious_low_confidence(0.01) 104 | 1 241667442 C T FH Missense_Mutation M336I deleterious(0) 105 | 1 241667444 T G FH Missense_Mutation M336L deleterious(0.03) 106 | 1 243859016 C A AKT3 Nonsense_Mutation E17* "" 107 | 1 243859016 C T AKT3 Missense_Mutation E17K deleterious(0) 108 | 2 16082316 CC TT MYCN Missense_Mutation P44F deleterious(0) 109 | 2 16082317 C T MYCN Missense_Mutation P44L deleterious(0) 110 | 2 25457242 C G DNMT3A Missense_Mutation R882P deleterious(0.01) 111 | 2 25457242 C T DNMT3A Missense_Mutation R882H deleterious(0) 112 | 2 25457243 G A DNMT3A Missense_Mutation R882C deleterious(0.02) 113 | 2 25976476 G A ASXL2 Nonsense_Mutation R357* "" 114 | 2 25978933 T G ASXL2 Missense_Mutation E330D deleterious(0) 115 | 2 25978935 C G ASXL2 Missense_Mutation E330Q deleterious(0) 116 | 2 25978935 C T ASXL2 Missense_Mutation E330K deleterious(0) 117 | 2 29432664 C A ALK Missense_Mutation R1275L deleterious(0) 118 | 2 29432664 C T ALK Missense_Mutation R1275Q deleterious(0) 119 | 2 29432665 G A ALK Nonsense_Mutation R1275* "" 120 | 2 29436860 A C ALK Missense_Mutation F1245V deleterious(0) 121 | 2 29436860 A T ALK Missense_Mutation F1245I deleterious(0) 122 | 2 29443695 G C ALK Missense_Mutation F1174L deleterious(0.03) 123 | 2 29443696 A C ALK Missense_Mutation F1174C deleterious(0) 124 | 2 29443697 A C ALK Missense_Mutation F1174V deleterious(0.01) 125 | 2 29443697 A G ALK Missense_Mutation F1174L deleterious(0.03) 126 | 2 29606678 C A ALK Missense_Mutation R401L deleterious(0.01) 127 | 2 29606678 C T ALK Missense_Mutation R401Q tolerated(0.48) 128 | 2 29606679 G A ALK Nonsense_Mutation R401* "" 129 | 2 29606696 C T ALK Missense_Mutation R395H tolerated(0.25) 130 | 2 39281778 T A SOS1 Missense_Mutation N233Y tolerated(1) 131 | 2 39285890 G A SOS1 Missense_Mutation A90V deleterious(0) 132 | 2 39285891 C T SOS1 Missense_Mutation A90T deleterious(0) 133 | 2 46607402 C G EPAS1 Missense_Mutation P531A deleterious(0) 134 | 2 46607402 C T EPAS1 Missense_Mutation P531S deleterious(0) 135 | 2 46607403 C T EPAS1 Missense_Mutation P531L deleterious(0) 136 | 2 46607406 A G EPAS1 Missense_Mutation Y532C deleterious(0) 137 | 2 47698180 G T MSH2 Nonsense_Mutation E580* "" 138 | 2 61715367 C T XPO1 Missense_Mutation R749Q deleterious(0) 139 | 2 61715368 G A XPO1 Nonsense_Mutation R749* "" 140 | 2 61719471 T A XPO1 Missense_Mutation E571V deleterious(0) 141 | 2 61719471 T G XPO1 Missense_Mutation E571A deleterious(0) 142 | 2 61719472 C T XPO1 Missense_Mutation E571K deleterious(0) 143 | 2 111907692 G A BCL2L11 Missense_Mutation G156R deleterious(0) 144 | 2 111907692 G T BCL2L11 Nonsense_Mutation G156* "" 145 | 2 111907693 G A BCL2L11 Missense_Mutation G156E deleterious(0) 146 | 2 158622516 C A ACVR1 Missense_Mutation G328V deleterious(0) 147 | 2 158622516 C T ACVR1 Missense_Mutation G328E deleterious(0.03) 148 | 2 158626897 C A ACVR1 Missense_Mutation R258M deleterious(0) 149 | 2 158626898 T C ACVR1 Missense_Mutation R258G deleterious(0) 150 | 2 158630626 C T ACVR1 Missense_Mutation R206H deleterious(0) 151 | 2 178098784 CTGAATTGGGAGAAATTCACCTGTCTCTTCATCTAGTTGTAA - NFE2L2 DEL E79del LoF 152 | 2 178098799 T A NFE2L2 Missense_Mutation E82D deleterious(0) 153 | 2 178098799 TTCACCTGTCTCTTCATCTAG - NFE2L2 DEL E79del LoF 154 | 2 178098800 T C NFE2L2 Missense_Mutation E82G deleterious(0) 155 | 2 178098800 T G NFE2L2 Missense_Mutation E82A deleterious(0) 156 | 2 178098801 C G NFE2L2 Missense_Mutation E82Q deleterious(0) 157 | 2 178098803 C A NFE2L2 Missense_Mutation G81V deleterious(0) 158 | 2 178098803 C G NFE2L2 Missense_Mutation G81A deleterious(0) 159 | 2 178098803 C T NFE2L2 Missense_Mutation G81D deleterious(0) 160 | 2 178098804 C A NFE2L2 Missense_Mutation G81C deleterious(0) 161 | 2 178098804 C G NFE2L2 Missense_Mutation G81R deleterious(0) 162 | 2 178098804 C T NFE2L2 Missense_Mutation G81S deleterious(0) 163 | 2 178098806 G A NFE2L2 Missense_Mutation T80I deleterious(0) 164 | 2 178098806 G C NFE2L2 Missense_Mutation T80R deleterious(0) 165 | 2 178098806 G T NFE2L2 Missense_Mutation T80K deleterious(0) 166 | 2 178098806 GTCTCTTCATCTAGTTGTAACTGA - NFE2L2 DEL E79del LoF 167 | 2 178098807 T C NFE2L2 Missense_Mutation T80A deleterious(0) 168 | 2 178098807 T G NFE2L2 Missense_Mutation T80P deleterious(0) 169 | 2 178098808 C A NFE2L2 Missense_Mutation E79D deleterious(0) 170 | 2 178098809 T A NFE2L2 Missense_Mutation E79V deleterious(0) 171 | 2 178098809 T C NFE2L2 Missense_Mutation E79G deleterious(0) 172 | 2 178098809 TCT - NFE2L2 DEL E79del LoF 173 | 2 178098810 C A NFE2L2 Nonsense_Mutation E79* "" 174 | 2 178098810 C G NFE2L2 Missense_Mutation E79Q deleterious(0) 175 | 2 178098810 C T NFE2L2 Missense_Mutation E79K deleterious(0) 176 | 2 178098815 T A NFE2L2 Missense_Mutation D77V deleterious(0) 177 | 2 178098815 T C NFE2L2 Missense_Mutation D77G deleterious(0) 178 | 2 178098816 C A NFE2L2 Missense_Mutation D77Y deleterious(0) 179 | 2 178098816 C G NFE2L2 Missense_Mutation D77H deleterious(0) 180 | 2 178098919 TCGCTGACTGAAGTCAAATACTTC - NFE2L2 DEL D21_I22delinsE LoF 181 | 2 178098924 GACTGAAGTCAAATACTTCTC - NFE2L2 DEL D21_I22delinsE LoF 182 | 2 178098935 AAT - NFE2L2 DEL D21_I22delinsE LoF 183 | 2 178098936 ATACTTCTC - NFE2L2 DEL D21_I22delinsE LoF 184 | 2 178098943 TCGACT - NFE2L2 DEL D21_I22delinsE LoF 185 | 2 178098944 C A NFE2L2 Missense_Mutation R34L deleterious(0) 186 | 2 178098944 C G NFE2L2 Missense_Mutation R34P deleterious(0) 187 | 2 178098944 C T NFE2L2 Missense_Mutation R34Q deleterious(0) 188 | 2 178098945 G A NFE2L2 Nonsense_Mutation R34* "" 189 | 2 178098945 G C NFE2L2 Missense_Mutation R34G deleterious(0) 190 | 2 178098945 GACTTACTCCAA - NFE2L2 DEL D21_I22delinsE LoF 191 | 2 178098951 CTC - NFE2L2 DEL D21_I22delinsE LoF 192 | 2 178098953 C A NFE2L2 Missense_Mutation G31V deleterious(0) 193 | 2 178098953 C G NFE2L2 Missense_Mutation G31A deleterious(0.02) 194 | 2 178098953 C T NFE2L2 Missense_Mutation G31E deleterious(0) 195 | 2 178098954 C T NFE2L2 Missense_Mutation G31R deleterious(0) 196 | 2 178098956 A C NFE2L2 Missense_Mutation L30R deleterious(0) 197 | 2 178098956 A G NFE2L2 Missense_Mutation L30P deleterious(0) 198 | 2 178098956 A T NFE2L2 Missense_Mutation L30H deleterious(0) 199 | 2 178098957 G A NFE2L2 Missense_Mutation L30F deleterious(0) 200 | 2 178098959 T C NFE2L2 Missense_Mutation D29G deleterious(0) 201 | 2 178098959 TCTATATCTTGCCTCCAAAGTATG - NFE2L2 DEL D21_I22delinsE LoF 202 | 2 178098960 C A NFE2L2 Missense_Mutation D29Y deleterious(0) 203 | 2 178098960 C G NFE2L2 Missense_Mutation D29H deleterious(0) 204 | 2 178098960 C T NFE2L2 Missense_Mutation D29N deleterious(0) 205 | 2 178098960 CTATATCTTGCCTCC - NFE2L2 DEL D21_I22delinsE LoF 206 | 2 178098962 A G NFE2L2 Missense_Mutation I28T deleterious(0) 207 | 2 178098964 ATC - NFE2L2 DEL D21_I22delinsE LoF 208 | 2 178098967 T G NFE2L2 Missense_Mutation Q26H deleterious(0) 209 | 2 178098968 T A NFE2L2 Missense_Mutation Q26L deleterious(0) 210 | 2 178098968 T C NFE2L2 Missense_Mutation Q26R deleterious(0) 211 | 2 178098968 T G NFE2L2 Missense_Mutation Q26P deleterious(0) 212 | 2 178098969 G T NFE2L2 Missense_Mutation Q26K deleterious(0) 213 | 2 178098973 C G NFE2L2 Missense_Mutation W24C deleterious(0) 214 | 2 178098974 C G NFE2L2 Missense_Mutation W24S deleterious(0) 215 | 2 178098975 A G NFE2L2 Missense_Mutation W24R deleterious(0) 216 | 2 178098980 ATG - NFE2L2 DEL D21_I22delinsE LoF 217 | 2 198265452 T C SF3B1 Missense_Mutation E902G deleterious(0.01) 218 | 2 198265453 C G SF3B1 Missense_Mutation E902Q deleterious(0.03) 219 | 2 198265453 C T SF3B1 Missense_Mutation E902K deleterious(0.01) 220 | 2 198265476 T C SF3B1 Missense_Mutation D894G deleterious(0) 221 | 2 198265476 T G SF3B1 Missense_Mutation D894A deleterious(0) 222 | 2 198265477 C A SF3B1 Missense_Mutation D894Y deleterious(0) 223 | 2 198265477 C T SF3B1 Missense_Mutation D894N deleterious(0.01) 224 | 2 198266611 C T SF3B1 Missense_Mutation G742D tolerated(0.06) 225 | 2 198266709 C A SF3B1 Missense_Mutation K741N deleterious(0) 226 | 2 198266710 T G SF3B1 Missense_Mutation K741T deleterious(0) 227 | 2 198266711 T A SF3B1 Nonsense_Mutation K741* "" 228 | 2 198266711 T C SF3B1 Missense_Mutation K741E deleterious(0) 229 | 2 198266711 T G SF3B1 Missense_Mutation K741Q deleterious(0.01) 230 | 2 198266712 TC AA SF3B1 Missense_Mutation G740V deleterious(0) 231 | 2 198266713 C A SF3B1 Missense_Mutation G740V deleterious(0) 232 | 2 198266713 C T SF3B1 Missense_Mutation G740E deleterious(0.01) 233 | 2 198266830 A G SF3B1 Missense_Mutation V701A deleterious(0) 234 | 2 198266831 C A SF3B1 Missense_Mutation V701F deleterious(0) 235 | 2 198266831 C T SF3B1 Missense_Mutation V701I tolerated(0.06) 236 | 2 198266833 T C SF3B1 Missense_Mutation K700R deleterious(0.04) 237 | 2 198266834 T C SF3B1 Missense_Mutation K700E deleterious(0) 238 | 2 198267359 C G SF3B1 Missense_Mutation K666N deleterious(0) 239 | 2 198267360 T A SF3B1 Missense_Mutation K666M deleterious(0) 240 | 2 198267360 T G SF3B1 Missense_Mutation K666T deleterious(0) 241 | 2 198267361 T C SF3B1 Missense_Mutation K666E deleterious(0) 242 | 2 198267361 T G SF3B1 Missense_Mutation K666Q deleterious(0) 243 | 2 198267481 T A SF3B1 Missense_Mutation N626Y deleterious(0) 244 | 2 198267481 T C SF3B1 Missense_Mutation N626D deleterious(0) 245 | 2 198267481 T G SF3B1 Missense_Mutation N626H deleterious(0) 246 | 2 198267483 C A SF3B1 Missense_Mutation R625L deleterious(0) 247 | 2 198267483 C T SF3B1 Missense_Mutation R625H deleterious(0) 248 | 2 198267484 G A SF3B1 Missense_Mutation R625C deleterious(0) 249 | 2 198267484 G C SF3B1 Missense_Mutation R625G deleterious(0) 250 | 2 198267489 T C SF3B1 Missense_Mutation Y623C deleterious(0) 251 | 2 198267489 T G SF3B1 Missense_Mutation Y623S deleterious(0) 252 | 2 198267490 A G SF3B1 Missense_Mutation Y623H deleterious(0) 253 | 2 202131411 C T CASP8 Nonsense_Mutation R127* "" 254 | 2 202131412 G A CASP8 Missense_Mutation R127Q tolerated(0.09) 255 | 2 202141586 C T CASP8 Missense_Mutation R292W deleterious(0) 256 | 2 202141587 G A CASP8 Missense_Mutation R292Q deleterious(0.02) 257 | 2 202150030 C T CASP8 Nonsense_Mutation R491* "" 258 | 2 202150031 G A CASP8 Missense_Mutation R491Q tolerated(0.29) 259 | 2 202150039 C T CASP8 Nonsense_Mutation R494* "" 260 | 2 204732714 A G CTLA4 Missense_Mutation T17A tolerated_low_confidence(0.21) 261 | 2 209113112 C A IDH1 Missense_Mutation R132L deleterious_low_confidence(0) 262 | 2 209113112 C T IDH1 Missense_Mutation R132H deleterious_low_confidence(0.01) 263 | 2 209113112 CG AT IDH1 Missense_Mutation R132I deleterious_low_confidence(0) 264 | 2 209113113 G A IDH1 Missense_Mutation R132C deleterious_low_confidence(0.03) 265 | 2 209113113 G C IDH1 Missense_Mutation R132G deleterious_low_confidence(0) 266 | 2 209113113 G T IDH1 Missense_Mutation R132S deleterious_low_confidence(0) 267 | 2 212248402 A C ERBB4 Missense_Mutation S1289A tolerated_low_confidence(0.8) 268 | 2 212248599 T A ERBB4 Missense_Mutation K1223M tolerated(0.05) 269 | 2 212248599 T C ERBB4 Missense_Mutation K1223R tolerated(0.39) 270 | 2 212248599 T G ERBB4 Missense_Mutation K1223T tolerated(0.47) 271 | 2 212251754 A C ERBB4 Missense_Mutation F1102C tolerated(0.11) 272 | 2 212285296 T C ERBB4 Missense_Mutation K1002R tolerated(0.27) 273 | 2 212285296 T G ERBB4 Missense_Mutation K1002T tolerated(0.41) 274 | 2 212426722 A C ERBB4 Missense_Mutation L798R deleterious(0) 275 | 2 212426722 A G ERBB4 Missense_Mutation L798P deleterious(0) 276 | 2 212426722 A T ERBB4 Missense_Mutation L798H deleterious(0) 277 | 2 212426794 C T ERBB4 Missense_Mutation S774N deleterious(0.01) 278 | 2 212426795 T C ERBB4 Missense_Mutation S774G tolerated(0.35) 279 | 2 212426795 T G ERBB4 Missense_Mutation S774R deleterious(0) 280 | 2 212488730 G C ERBB4 Missense_Mutation Q707E deleterious(0) 281 | 2 225371708 A C CUL3 Missense_Mutation M299R deleterious(0) 282 | 2 225371709 T C CUL3 Missense_Mutation M299V deleterious(0.05) 283 | 3 10183724 T A VHL Missense_Mutation S65T deleterious(0) 284 | 3 10183724 T C VHL Missense_Mutation S65P deleterious(0) 285 | 3 10183725 C A VHL Nonsense_Mutation S65* "" 286 | 3 10183725 C G VHL Missense_Mutation S65W deleterious(0) 287 | 3 10183725 C T VHL Missense_Mutation S65L deleterious(0) 288 | 3 10183733 T C VHL Missense_Mutation S68P deleterious(0.02) 289 | 3 10183734 C A VHL Nonsense_Mutation S68* "" 290 | 3 10183735 - CGCGAGCCCTCCCAGGTCATCTTCTGCAAT VHL INS F76del LoF 291 | 3 10183752 T A VHL Missense_Mutation V74D deleterious(0) 292 | 3 10183752 T G VHL Missense_Mutation V74G deleterious(0) 293 | 3 10183753 CATCTTCTG - VHL DEL F76del LoF 294 | 3 10183755 TCT - VHL DEL F76del LoF 295 | 3 10183763 A G VHL Missense_Mutation N78D deleterious(0.01) 296 | 3 10183763 A T VHL Missense_Mutation N78Y deleterious(0.02) 297 | 3 10183764 A G VHL Missense_Mutation N78S deleterious(0) 298 | 3 10183765 T A VHL Missense_Mutation N78K deleterious(0) 299 | 3 10183765 TCGCAG - VHL DEL F76del LoF 300 | 3 10183769 A C VHL Missense_Mutation S80R deleterious(0) 301 | 3 10183770 G A VHL Missense_Mutation S80N deleterious(0) 302 | 3 10183770 G T VHL Missense_Mutation S80I deleterious(0) 303 | 3 10183771 T G VHL Missense_Mutation S80R deleterious(0) 304 | 3 10183787 C A VHL Missense_Mutation P86T deleterious(0) 305 | 3 10183787 C T VHL Missense_Mutation P86S deleterious(0.01) 306 | 3 10183788 C G VHL Missense_Mutation P86R deleterious(0) 307 | 3 10183788 C T VHL Missense_Mutation P86L tolerated(0.07) 308 | 3 10183793 T C VHL Missense_Mutation W88R deleterious(0) 309 | 3 10183794 G A VHL Nonsense_Mutation W88* "" 310 | 3 10183794 G T VHL Missense_Mutation W88L deleterious(0.03) 311 | 3 10183797 T A VHL Missense_Mutation L89H deleterious(0) 312 | 3 10183797 T C VHL Missense_Mutation L89P deleterious(0) 313 | 3 10183862 AGC CCT VHL Missense_Mutation S111P tolerated(0.05) 314 | 3 10183863 G A VHL Missense_Mutation S111N tolerated(0.09) 315 | 3 10183864 C G VHL Missense_Mutation S111R tolerated(0.06) 316 | 3 10183865 - A VHL Nonsense_Mutation Y112* "" 317 | 3 10183865 T G VHL Missense_Mutation Y112D deleterious(0) 318 | 3 10183866 A G VHL Missense_Mutation Y112C deleterious(0) 319 | 3 10183867 C A VHL Nonsense_Mutation Y112* "" 320 | 3 10183871 G C VHL Missense_Mutation G114R deleterious(0.01) 321 | 3 10183871 G T VHL Missense_Mutation G114C deleterious(0.03) 322 | 3 10188198 G C VHL Missense_Mutation G114A deleterious(0.02) 323 | 3 10188200 C A VHL Missense_Mutation H115N deleterious(0) 324 | 3 10188200 C T VHL Missense_Mutation H115Y deleterious(0) 325 | 3 10188202 C A VHL Missense_Mutation H115Q deleterious(0) 326 | 3 10188207 G A VHL Nonsense_Mutation W117* "" 327 | 3 10188207 G T VHL Missense_Mutation W117L deleterious(0) 328 | 3 10188208 G A VHL Nonsense_Mutation W117* "" 329 | 3 10188208 G C VHL Missense_Mutation W117C deleterious(0) 330 | 3 10188218 G T VHL Missense_Mutation D121Y deleterious(0) 331 | 3 10188219 A G VHL Missense_Mutation D121G deleterious(0) 332 | 3 10188219 A T VHL Missense_Mutation D121V deleterious(0) 333 | 3 10188261 T G VHL Nonsense_Mutation L135* "" 334 | 3 10188262 A T VHL Missense_Mutation L135F deleterious(0.02) 335 | 3 10188308 A T VHL Missense_Mutation I151F deleterious(0) 336 | 3 10188309 T A VHL Missense_Mutation I151N deleterious(0) 337 | 3 10188309 T C VHL Missense_Mutation I151T deleterious(0) 338 | 3 10188309 T G VHL Missense_Mutation I151S deleterious(0) 339 | 3 10191479 C G VHL Missense_Mutation L158V deleterious(0) 340 | 3 10191480 T A VHL Missense_Mutation L158Q deleterious(0) 341 | 3 10191480 T C VHL Missense_Mutation L158P deleterious(0) 342 | 3 10191488 C T VHL Nonsense_Mutation R161* "" 343 | 3 10191489 G A VHL Missense_Mutation R161Q deleterious(0.03) 344 | 3 10191489 G T VHL Missense_Mutation R161L deleterious(0.02) 345 | 3 10191491 T C VHL Missense_Mutation C162R deleterious(0) 346 | 3 10191492 G A VHL Missense_Mutation C162Y deleterious(0) 347 | 3 10191492 G T VHL Missense_Mutation C162F deleterious(0) 348 | 3 10191493 C A VHL Nonsense_Mutation C162* "" 349 | 3 10191493 C G VHL Missense_Mutation C162W deleterious(0) 350 | 3 10191513 T C VHL Missense_Mutation L169P deleterious(0) 351 | 3 12645693 G A RAF1 Missense_Mutation S259F deleterious(0) 352 | 3 12645693 G C RAF1 Missense_Mutation S259C deleterious(0) 353 | 3 12645694 A G RAF1 Missense_Mutation S259P deleterious(0) 354 | 3 12645699 G A RAF1 Missense_Mutation S257L deleterious(0.01) 355 | 3 12645699 G C RAF1 Missense_Mutation S257W deleterious(0) 356 | 3 30715678 G A TGFBR2 Missense_Mutation D471N deleterious(0) 357 | 3 30715678 G T TGFBR2 Missense_Mutation D471Y deleterious(0) 358 | 3 30715679 A T TGFBR2 Missense_Mutation D471V deleterious(0) 359 | 3 30729962 C T TGFBR2 Nonsense_Mutation R520* "" 360 | 3 30732942 G A TGFBR2 Missense_Mutation E544K deleterious(0) 361 | 3 30732969 C G TGFBR2 Missense_Mutation R553G deleterious(0) 362 | 3 30732969 C T TGFBR2 Missense_Mutation R553C deleterious(0) 363 | 3 30732970 G A TGFBR2 Missense_Mutation R553H deleterious(0) 364 | 3 30732970 G T TGFBR2 Missense_Mutation R553L deleterious(0) 365 | 3 38181484 C T MYD88 Missense_Mutation P166L tolerated(0.06) 366 | 3 38182259 T C MYD88 Missense_Mutation M232T tolerated(0.06) 367 | 3 38182292 G A MYD88 Missense_Mutation S243N deleterious(0.01) 368 | 3 38182641 T C MYD88 Missense_Mutation L265P deleterious(0) 369 | 3 41266069 TAGTCACTGGCAGCAACAGTCTTACCTGGACTC - CTNNB1 DEL S45del LoF 370 | 3 41266073 CACTGGCAGCAACAGTCTTACCTGGACTCTGGAATC - CTNNB1 DEL S45del LoF 371 | 3 41266074 ACTGGCAGCAACAGTCTTACCTGG - CTNNB1 DEL S45del LoF 372 | 3 41266080 AGCAACAGTCTTACCTGG - CTNNB1 DEL S45del LoF 373 | 3 41266086 AGTCTTACCTGG - CTNNB1 DEL S45del LoF 374 | 3 41266088 TCTTACCTGGAC - CTNNB1 DEL S45del LoF 375 | 3 41266093 CCTG - CTNNB1 DEL S45del LoF 376 | 3 41266094 CTGGACTCT - CTNNB1 DEL S45del LoF 377 | 3 41266097 G A CTNNB1 Missense_Mutation D32N deleterious(0.05) 378 | 3 41266097 G C CTNNB1 Missense_Mutation D32H deleterious(0) 379 | 3 41266097 G T CTNNB1 Missense_Mutation D32Y deleterious(0) 380 | 3 41266097 GACTCT - CTNNB1 DEL S45del LoF 381 | 3 41266098 A C CTNNB1 Missense_Mutation D32A deleterious(0) 382 | 3 41266098 A G CTNNB1 Missense_Mutation D32G deleterious(0.01) 383 | 3 41266098 A T CTNNB1 Missense_Mutation D32V deleterious(0) 384 | 3 41266098 ACTCTGGAATCCATT - CTNNB1 DEL S45del LoF 385 | 3 41266099 CTCTGGAATCCATTCTGGTGC - CTNNB1 DEL S45del LoF 386 | 3 41266100 T A CTNNB1 Missense_Mutation S33T deleterious(0.02) 387 | 3 41266100 T C CTNNB1 Missense_Mutation S33P deleterious(0.01) 388 | 3 41266100 T G CTNNB1 Missense_Mutation S33A deleterious(0) 389 | 3 41266100 TCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCCCAAGTCCTGTATGAGTGGGAACAGGGATTT - CTNNB1 DEL S45del LoF 390 | 3 41266101 C A CTNNB1 Missense_Mutation S33Y deleterious(0) 391 | 3 41266101 C G CTNNB1 Missense_Mutation S33C deleterious(0) 392 | 3 41266101 C T CTNNB1 Missense_Mutation S33F deleterious(0) 393 | 3 41266103 G A CTNNB1 Missense_Mutation G34R deleterious(0) 394 | 3 41266103 G T CTNNB1 Nonsense_Mutation G34* "" 395 | 3 41266103 GG TT CTNNB1 Missense_Mutation G34L deleterious(0) 396 | 3 41266104 G A CTNNB1 Missense_Mutation G34E deleterious(0.03) 397 | 3 41266104 G C CTNNB1 Missense_Mutation G34A deleterious(0) 398 | 3 41266104 G T CTNNB1 Missense_Mutation G34V deleterious(0) 399 | 3 41266107 T G CTNNB1 Missense_Mutation I35S deleterious(0) 400 | 3 41266109 C T CTNNB1 Missense_Mutation H36Y deleterious(0) 401 | 3 41266110 A C CTNNB1 Missense_Mutation H36P deleterious(0.04) 402 | 3 41266112 T C CTNNB1 Missense_Mutation S37P deleterious(0.01) 403 | 3 41266112 T G CTNNB1 Missense_Mutation S37A deleterious(0) 404 | 3 41266113 C A CTNNB1 Missense_Mutation S37Y deleterious(0) 405 | 3 41266113 C G CTNNB1 Missense_Mutation S37C deleterious(0) 406 | 3 41266113 C T CTNNB1 Missense_Mutation S37F deleterious(0) 407 | 3 41266113 CTGGTGCCACTACCACAGCTC - CTNNB1 DEL S45del LoF 408 | 3 41266122 CTACCACAGCTCCTT - CTNNB1 DEL S45del LoF 409 | 3 41266123 TACCACAGCTCCTTCTCTGAG - CTNNB1 DEL S45del LoF 410 | 3 41266124 A G CTNNB1 Missense_Mutation T41A deleterious(0) 411 | 3 41266125 C A CTNNB1 Missense_Mutation T41N deleterious(0.03) 412 | 3 41266125 C T CTNNB1 Missense_Mutation T41I deleterious(0) 413 | 3 41266127 ACAGCTCCTTCTCTGAGTGGTAAA - CTNNB1 DEL S45del LoF 414 | 3 41266129 - GCTCCT CTNNB1 INS S45del LoF 415 | 3 41266132 - C CTNNB1 INS S45del LoF 416 | 3 41266133 CCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCC - CTNNB1 DEL S45del LoF 417 | 3 41266134 CTT - CTNNB1 DEL S45del LoF 418 | 3 41266136 T C CTNNB1 Missense_Mutation S45P deleterious(0) 419 | 3 41266136 T G CTNNB1 Missense_Mutation S45A deleterious(0.02) 420 | 3 41266137 C A CTNNB1 Missense_Mutation S45Y deleterious(0) 421 | 3 41266137 C G CTNNB1 Missense_Mutation S45C deleterious(0) 422 | 3 41266137 C T CTNNB1 Missense_Mutation S45F deleterious(0) 423 | 3 41267290 A G CTNNB1 Missense_Mutation K292E deleterious(0) 424 | 3 41267291 A C CTNNB1 Missense_Mutation K292T deleterious(0.02) 425 | 3 41268766 A C CTNNB1 Missense_Mutation K335T deleterious(0) 426 | 3 41268766 A T CTNNB1 Missense_Mutation K335I deleterious(0) 427 | 3 41274897 T C CTNNB1 Missense_Mutation W383R deleterious(0) 428 | 3 41274897 T G CTNNB1 Missense_Mutation W383G deleterious(0) 429 | 3 41274898 G C CTNNB1 Missense_Mutation W383S deleterious(0) 430 | 3 41274899 G C CTNNB1 Missense_Mutation W383C deleterious(0) 431 | 3 41274909 A T CTNNB1 Missense_Mutation N387Y deleterious(0) 432 | 3 41274910 A T CTNNB1 Missense_Mutation N387I deleterious(0) 433 | 3 41274911 T G CTNNB1 Missense_Mutation N387K deleterious(0) 434 | 3 41275708 C T CTNNB1 Nonsense_Mutation R535* "" 435 | 3 41275709 G A CTNNB1 Missense_Mutation R535Q deleterious(0.04) 436 | 3 47142965 A C SETD2 Nonsense_Mutation Y1666* "" 437 | 3 47142966 T C SETD2 Missense_Mutation Y1666C deleterious(0) 438 | 3 47142967 A G SETD2 Missense_Mutation Y1666H deleterious(0) 439 | 3 47144879 C A SETD2 Missense_Mutation R1625L deleterious(0) 440 | 3 47144879 C T SETD2 Missense_Mutation R1625H deleterious(0) 441 | 3 47144880 G A SETD2 Missense_Mutation R1625C deleterious(0) 442 | 3 47144880 G T SETD2 Missense_Mutation R1625S deleterious(0) 443 | 3 47147518 T C SETD2 Missense_Mutation H1603R deleterious(0) 444 | 3 47147519 GG AG SETD2 Missense_Mutation H1603Y "" 445 | 3 49397742 G A RHOA Missense_Mutation A161V deleterious(0.01) 446 | 3 49397743 C T RHOA Missense_Mutation A161T deleterious(0) 447 | 3 49405932 A C RHOA Missense_Mutation L69R deleterious(0) 448 | 3 49405932 A G RHOA Missense_Mutation L69P deleterious(0) 449 | 3 49405933 G T RHOA Missense_Mutation L69M deleterious(0) 450 | 3 49405953 C A RHOA Missense_Mutation G62V deleterious(0) 451 | 3 49405953 C T RHOA Missense_Mutation G62E deleterious(0) 452 | 3 49405954 C T RHOA Missense_Mutation G62R deleterious(0.03) 453 | 3 49405969 A C RHOA Missense_Mutation L57V deleterious(0.02) 454 | 3 49412884 C T RHOA Missense_Mutation E47K deleterious(0.04) 455 | 3 49412898 T A RHOA Missense_Mutation Y42F deleterious(0.03) 456 | 3 49412898 T C RHOA Missense_Mutation Y42C deleterious(0.01) 457 | 3 49412898 T G RHOA Missense_Mutation Y42S deleterious(0.01) 458 | 3 49412898 TA AT RHOA Missense_Mutation Y42I deleterious(0) 459 | 3 49412903 C G RHOA Missense_Mutation E40D tolerated(0.21) 460 | 3 49412904 T A RHOA Missense_Mutation E40V deleterious(0) 461 | 3 49412905 C A RHOA Nonsense_Mutation E40* "" 462 | 3 49412905 C G RHOA Missense_Mutation E40Q deleterious(0.04) 463 | 3 49412905 C T RHOA Missense_Mutation E40K deleterious(0) 464 | 3 49412913 G A RHOA Missense_Mutation T37I deleterious(0) 465 | 3 49412914 T A RHOA Missense_Mutation T37S deleterious(0.02) 466 | 3 49412914 T C RHOA Missense_Mutation T37A deleterious(0) 467 | 3 49412922 T A RHOA Missense_Mutation Y34F deleterious(0.01) 468 | 3 49412922 T C RHOA Missense_Mutation Y34C deleterious(0) 469 | 3 49412958 A C RHOA Missense_Mutation L22R deleterious(0.01) 470 | 3 49412958 A G RHOA Missense_Mutation L22P deleterious(0) 471 | 3 49412973 C A RHOA Missense_Mutation G17V deleterious(0) 472 | 3 49412973 C G RHOA Missense_Mutation G17A deleterious(0) 473 | 3 49412973 C T RHOA Missense_Mutation G17E deleterious(0) 474 | 3 49413009 C A RHOA Missense_Mutation R5L deleterious(0) 475 | 3 49413009 C T RHOA Missense_Mutation R5Q tolerated(0.06) 476 | 3 49413010 G A RHOA Missense_Mutation R5W deleterious(0.02) 477 | 3 49721622 C T MST1 Missense_Mutation G673S deleterious(0.04) 478 | 3 52443591 TCGTAGATCTCCTCCACTTGCACCCCC - BAP1 DEL E31del LoF 479 | 3 52443593 GTA - BAP1 DEL E31del LoF 480 | 3 52443599 CTC - BAP1 DEL E31del LoF 481 | 3 52443609 TGCACCCCCTTG - BAP1 DEL E31del LoF 482 | 3 52610694 C G PBRM1 Missense_Mutation R1160P deleterious(0.01) 483 | 3 52610694 C T PBRM1 Missense_Mutation R1160Q tolerated(0.25) 484 | 3 52610695 G A PBRM1 Nonsense_Mutation R1160* "" 485 | 3 52637555 G A PBRM1 Nonsense_Mutation R921* "" 486 | 3 52643768 G A PBRM1 Nonsense_Mutation R710* "" 487 | 3 52643768 G C PBRM1 Missense_Mutation R710G tolerated(0.14) 488 | 3 71021817 C T FOXP1 Missense_Mutation R514H deleterious(0) 489 | 3 71021818 G A FOXP1 Missense_Mutation R514C deleterious(0) 490 | 3 71026984 G A FOXP1 Missense_Mutation S448L deleterious(0.03) 491 | 3 89259262 C T EPHA3 Nonsense_Mutation R136* "" 492 | 3 128200749 A T GATA2 Nonsense_Mutation C352* "" 493 | 3 128200750 C A GATA2 Missense_Mutation C352F deleterious(0) 494 | 3 128200751 A G GATA2 Missense_Mutation C352R deleterious(0) 495 | 3 134920412 C T EPHB1 Missense_Mutation R743W deleterious(0) 496 | 3 134920413 G A EPHB1 Missense_Mutation R743Q deleterious(0.01) 497 | 3 138374244 T A PIK3CB Missense_Mutation D1067V deleterious(0) 498 | 3 138374244 T G PIK3CB Missense_Mutation D1067A deleterious(0) 499 | 3 138374245 C A PIK3CB Missense_Mutation D1067Y deleterious(0) 500 | 3 138374245 C G PIK3CB Missense_Mutation D1067H deleterious(0) 501 | 3 138374292 T C PIK3CB Missense_Mutation E1051G deleterious(0.02) 502 | 3 138374293 C T PIK3CB Missense_Mutation E1051K deleterious(0.03) 503 | 3 138453486 C T PIK3CB Missense_Mutation R321Q tolerated(0.6) 504 | 3 138665163 G C FOXL2 Missense_Mutation C134W deleterious(0) 505 | 3 138665213 C G FOXL2 Missense_Mutation E118Q deleterious(0.01) 506 | 3 138665213 C T FOXL2 Missense_Mutation E118K deleterious(0) 507 | 3 170013719 C A PRKCI Missense_Mutation R480S tolerated(0.2) 508 | 3 170013719 C T PRKCI Missense_Mutation R480C tolerated(0.06) 509 | 3 170013720 G A PRKCI Missense_Mutation R480H tolerated(0.31) 510 | 3 178916641 CTGTGGGGCATCCACTTGATG - PIK3CA DEL L10_M16del LoF 511 | 3 178916643 GTGGGGCATCCACTTGATGCCCCC - PIK3CA DEL L10_M16del LoF 512 | 3 178916645 GGGGCATCC - PIK3CA DEL L10_M16del LoF 513 | 3 178916725 C A PIK3CA Missense_Mutation R38S deleterious(0) 514 | 3 178916725 C G PIK3CA Missense_Mutation R38G deleterious(0) 515 | 3 178916725 C T PIK3CA Missense_Mutation R38C deleterious(0) 516 | 3 178916726 G A PIK3CA Missense_Mutation R38H deleterious(0.01) 517 | 3 178916726 G T PIK3CA Missense_Mutation R38L deleterious(0.01) 518 | 3 178916728 G A PIK3CA Missense_Mutation E39K deleterious(0.01) 519 | 3 178916729 A G PIK3CA Missense_Mutation E39G deleterious(0.01) 520 | 3 178916854 G A PIK3CA Missense_Mutation E81K deleterious(0) 521 | 3 178916854 G T PIK3CA Nonsense_Mutation E81* "" 522 | 3 178916876 G A PIK3CA Missense_Mutation R88Q tolerated(0.06) 523 | 3 178916881 T C PIK3CA Missense_Mutation C90R deleterious(0) 524 | 3 178916881 T G PIK3CA Missense_Mutation C90G deleterious(0.01) 525 | 3 178916882 G A PIK3CA Missense_Mutation C90Y deleterious(0) 526 | 3 178916882 G C PIK3CA Missense_Mutation C90S deleterious(0) 527 | 3 178916890 C T PIK3CA Missense_Mutation R93W deleterious(0) 528 | 3 178916891 G A PIK3CA Missense_Mutation R93Q deleterious(0.01) 529 | 3 178916891 G T PIK3CA Missense_Mutation R93L deleterious(0.01) 530 | 3 178916917 ATT - PIK3CA DEL G106_R108del LoF 531 | 3 178916918 TTG - PIK3CA DEL G106_R108del LoF 532 | 3 178916922 ACCAGT - PIK3CA DEL G106_R108del LoF 533 | 3 178916923 CC TT PIK3CA Missense_Mutation P104L deleterious(0.01) 534 | 3 178916924 C G PIK3CA Missense_Mutation P104R tolerated(0.1) 535 | 3 178916924 C T PIK3CA Missense_Mutation P104L deleterious(0.01) 536 | 3 178916928 AGGCAA - PIK3CA DEL G106_R108del LoF 537 | 3 178916929 G A PIK3CA Missense_Mutation G106S deleterious(0.03) 538 | 3 178916929 G C PIK3CA Missense_Mutation G106R deleterious(0.01) 539 | 3 178916929 G T PIK3CA Missense_Mutation G106C tolerated(0.09) 540 | 3 178916929 GGCAACCGT - PIK3CA DEL G106_R108del LoF 541 | 3 178916930 G T PIK3CA Missense_Mutation G106V deleterious(0.01) 542 | 3 178916930 GCAA TCAG PIK3CA Missense_Mutation N107S "" 543 | 3 178916933 A G PIK3CA Missense_Mutation N107S tolerated(0.07) 544 | 3 178916933 A T PIK3CA Missense_Mutation N107I deleterious(0) 545 | 3 178916934 CCG - PIK3CA DEL G106_R108del LoF 546 | 3 178916935 C A PIK3CA Missense_Mutation R108S deleterious(0.03) 547 | 3 178916936 G A PIK3CA Missense_Mutation R108H deleterious(0.03) 548 | 3 178916936 G T PIK3CA Missense_Mutation R108L tolerated(0.11) 549 | 3 178916938 - AAGAAA PIK3CA INS E110del LoF 550 | 3 178916944 A C PIK3CA Missense_Mutation K111Q deleterious(0) 551 | 3 178916944 A G PIK3CA Missense_Mutation K111E deleterious(0.03) 552 | 3 178916944 AAG - PIK3CA DEL E110del LoF 553 | 3 178916945 A G PIK3CA Missense_Mutation K111R deleterious(0.01) 554 | 3 178916946 G T PIK3CA Missense_Mutation K111N deleterious(0) 555 | 3 178916947 ATCCTC - PIK3CA DEL E110del LoF 556 | 3 178916948 TCC - PIK3CA DEL E110del LoF 557 | 3 178916954 ATC - PIK3CA DEL E110del LoF 558 | 3 178916957 G A PIK3CA Missense_Mutation R115Q tolerated(0.46) 559 | 3 178916957 G C PIK3CA Missense_Mutation R115P tolerated(0.19) 560 | 3 178916957 G T PIK3CA Missense_Mutation R115L tolerated(0.44) 561 | 3 178917478 G A PIK3CA Missense_Mutation G118D tolerated(0.05) 562 | 3 178921548 G A PIK3CA Missense_Mutation V344M deleterious(0) 563 | 3 178921549 T C PIK3CA Missense_Mutation V344A deleterious(0.01) 564 | 3 178921549 T G PIK3CA Missense_Mutation V344G deleterious(0) 565 | 3 178921551 A C PIK3CA Missense_Mutation N345H deleterious(0) 566 | 3 178921551 A G PIK3CA Missense_Mutation N345D deleterious(0.02) 567 | 3 178921551 A T PIK3CA Missense_Mutation N345Y deleterious(0) 568 | 3 178921552 A C PIK3CA Missense_Mutation N345T deleterious(0.05) 569 | 3 178921552 A T PIK3CA Missense_Mutation N345I deleterious(0) 570 | 3 178921553 T A PIK3CA Missense_Mutation N345K deleterious(0.01) 571 | 3 178921566 G A PIK3CA Missense_Mutation D350N tolerated(0.05) 572 | 3 178921567 A G PIK3CA Missense_Mutation D350G deleterious(0.01) 573 | 3 178921567 A T PIK3CA Missense_Mutation D350V deleterious(0) 574 | 3 178922300 C G PIK3CA Missense_Mutation R357G deleterious(0.01) 575 | 3 178922300 C T PIK3CA Nonsense_Mutation R357* "" 576 | 3 178922301 G A PIK3CA Missense_Mutation R357Q tolerated(0.09) 577 | 3 178922301 G T PIK3CA Missense_Mutation R357L deleterious(0.01) 578 | 3 178922321 G A PIK3CA Missense_Mutation G364R tolerated(0.27) 579 | 3 178922322 G C PIK3CA Missense_Mutation G364A tolerated(0.48) 580 | 3 178922324 G A PIK3CA Missense_Mutation E365K deleterious(0.05) 581 | 3 178922325 A T PIK3CA Missense_Mutation E365V deleterious(0) 582 | 3 178922363 T C PIK3CA Missense_Mutation C378R tolerated(0.31) 583 | 3 178922364 G A PIK3CA Missense_Mutation C378Y tolerated(0.86) 584 | 3 178922364 G T PIK3CA Missense_Mutation C378F tolerated(0.68) 585 | 3 178927977 CACTGT - PIK3CA DEL H419_C420del LoF 586 | 3 178927980 T C PIK3CA Missense_Mutation C420R tolerated(0.21) 587 | 3 178928025 - CTCTAGTATCTGGAAAAATGGCTTTGAATCTTTGGCCAGTAC PIK3CA INS E453del LoF 588 | 3 178928060 GCCAGTACCTCATGGATTAGAAGATTT - PIK3CA DEL E453del LoF 589 | 3 178928065 TACCTCATGGATTAGAAGATTTGC - PIK3CA DEL E453del LoF 590 | 3 178928069 TCATGGATTAGAAGATTT - PIK3CA DEL E453del LoF 591 | 3 178928071 ATGGATTAGAAG - PIK3CA DEL E453del LoF 592 | 3 178928072 TGGATTAGAAGATTTGCTGAACCCTAT - PIK3CA DEL E453del LoF 593 | 3 178928075 ATTAGAAGATTTGCTGAACCC - PIK3CA DEL E453del LoF 594 | 3 178928078 AGA - PIK3CA DEL E453del LoF 595 | 3 178928079 G A PIK3CA Missense_Mutation E453K tolerated(0.06) 596 | 3 178928079 G C PIK3CA Missense_Mutation E453Q tolerated(0.07) 597 | 3 178928079 GAAGAT - PIK3CA DEL E453del LoF 598 | 3 178928081 A C PIK3CA Missense_Mutation E453D tolerated(0.68) 599 | 3 178928087 GCTGAACCCTATTGG - PIK3CA DEL E453del LoF 600 | 3 178928110 GATCAA - PIK3CA DEL E453del LoF 601 | 3 178928225 C G PIK3CA Missense_Mutation P471A tolerated(0.06) 602 | 3 178928226 C T PIK3CA Missense_Mutation P471L deleterious(0) 603 | 3 178936074 C G PIK3CA Missense_Mutation P539R deleterious(0) 604 | 3 178936082 G A PIK3CA Missense_Mutation E542K deleterious(0.04) 605 | 3 178936082 G C PIK3CA Missense_Mutation E542Q tolerated(0.12) 606 | 3 178936083 A C PIK3CA Missense_Mutation E542A deleterious(0.04) 607 | 3 178936083 A G PIK3CA Missense_Mutation E542G tolerated(0.07) 608 | 3 178936083 A T PIK3CA Missense_Mutation E542V deleterious(0.01) 609 | 3 178936091 G A PIK3CA Missense_Mutation E545K deleterious(0.02) 610 | 3 178936091 G C PIK3CA Missense_Mutation E545Q tolerated(0.06) 611 | 3 178936092 A C PIK3CA Missense_Mutation E545A deleterious(0.02) 612 | 3 178936092 A G PIK3CA Missense_Mutation E545G deleterious(0.01) 613 | 3 178936093 G C PIK3CA Missense_Mutation E545D tolerated(0.17) 614 | 3 178936093 GC TA PIK3CA Missense_Mutation Q546K "" 615 | 3 178936094 C A PIK3CA Missense_Mutation Q546K deleterious(0.03) 616 | 3 178936094 C G PIK3CA Missense_Mutation Q546E tolerated(0.13) 617 | 3 178936095 A C PIK3CA Missense_Mutation Q546P deleterious(0.01) 618 | 3 178936095 A G PIK3CA Missense_Mutation Q546R deleterious(0.02) 619 | 3 178936095 A T PIK3CA Missense_Mutation Q546L tolerated(0.07) 620 | 3 178936096 G T PIK3CA Missense_Mutation Q546H tolerated(0.06) 621 | 3 178937422 T C PIK3CA Missense_Mutation C604R deleterious(0) 622 | 3 178938934 G A PIK3CA Missense_Mutation E726K tolerated(0.36) 623 | 3 178938935 A C PIK3CA Missense_Mutation E726A tolerated(0.12) 624 | 3 178947827 G T PIK3CA Missense_Mutation C901F deleterious(0) 625 | 3 178948044 A G PIK3CA Missense_Mutation D939G tolerated(0.83) 626 | 3 178948136 G A PIK3CA Missense_Mutation E970K tolerated(0.51) 627 | 3 178951955 A G PIK3CA Missense_Mutation M1004V deleterious(0.01) 628 | 3 178951957 G A PIK3CA Missense_Mutation M1004I deleterious(0.01) 629 | 3 178951964 G C PIK3CA Missense_Mutation G1007R tolerated(0.1) 630 | 3 178951965 G A PIK3CA Missense_Mutation G1007D tolerated(0.1) 631 | 3 178952006 T C PIK3CA Missense_Mutation Y1021H deleterious(0) 632 | 3 178952007 A G PIK3CA Missense_Mutation Y1021C deleterious(0) 633 | 3 178952018 A G PIK3CA Missense_Mutation T1025A deleterious(0.01) 634 | 3 178952018 A T PIK3CA Missense_Mutation T1025S tolerated(0.17) 635 | 3 178952072 A G PIK3CA Missense_Mutation M1043V tolerated(0.06) 636 | 3 178952072 A T PIK3CA Missense_Mutation M1043L tolerated(0.7) 637 | 3 178952073 T C PIK3CA Missense_Mutation M1043T deleterious(0.01) 638 | 3 178952074 G A PIK3CA Missense_Mutation M1043I tolerated(0.11) 639 | 3 178952075 A T PIK3CA Missense_Mutation N1044Y tolerated(0.5) 640 | 3 178952077 T A PIK3CA Missense_Mutation N1044K tolerated(0.14) 641 | 3 178952084 C T PIK3CA Missense_Mutation H1047Y tolerated(1) 642 | 3 178952085 A G PIK3CA Missense_Mutation H1047R tolerated(0.11) 643 | 3 178952085 A T PIK3CA Missense_Mutation H1047L tolerated(0.44) 644 | 3 178952086 T A PIK3CA Missense_Mutation H1047Q tolerated(0.24) 645 | 3 178952090 G C PIK3CA Missense_Mutation G1049R tolerated(0.09) 646 | 3 178952091 G C PIK3CA Missense_Mutation G1049A tolerated(0.07) 647 | 3 178952100 C A PIK3CA Missense_Mutation T1052K tolerated(0.13) 648 | 3 178952138 C T PIK3CA Missense_Mutation H1065Y tolerated_low_confidence(0.14) 649 | 3 178952139 A T PIK3CA Missense_Mutation H1065L tolerated_low_confidence(0.13) 650 | 3 187442853 C T BCL6 Missense_Mutation R618H deleterious(0) 651 | 3 187442854 G A BCL6 Missense_Mutation R618C deleterious(0) 652 | 3 187443345 C T BCL6 Missense_Mutation R594Q deleterious(0.01) 653 | 3 187443346 G C BCL6 Missense_Mutation R594G deleterious(0.01) 654 | 3 189586470 C A TP63 Nonsense_Mutation S365* "" 655 | 3 189586470 C T TP63 Missense_Mutation S365L tolerated(0.36) 656 | 3 189587118 C A TP63 Missense_Mutation R379S tolerated(0.2) 657 | 3 189587118 C T TP63 Missense_Mutation R379C deleterious(0) 658 | 3 189587119 G A TP63 Missense_Mutation R379H deleterious(0.01) 659 | 3 189612073 G A TP63 Missense_Mutation E609K deleterious(0.05) 660 | 4 1803564 C T FGFR3 Missense_Mutation R248C deleterious(0) 661 | 4 1803568 C G FGFR3 Missense_Mutation S249C deleterious(0.01) 662 | 4 1806089 G T FGFR3 Missense_Mutation G370C deleterious(0.04) 663 | 4 1806092 A T FGFR3 Missense_Mutation S371C deleterious(0.03) 664 | 4 1806099 A G FGFR3 Missense_Mutation Y373C deleterious(0) 665 | 4 1806119 G A FGFR3 Missense_Mutation G380R tolerated(0.07) 666 | 4 1807889 A G FGFR3 Missense_Mutation K650E deleterious(0) 667 | 4 1807890 A C FGFR3 Missense_Mutation K650T deleterious(0) 668 | 4 1807890 A T FGFR3 Missense_Mutation K650M deleterious(0) 669 | 4 1807891 G C FGFR3 Missense_Mutation K650N deleterious(0) 670 | 4 1976665 A G WHSC1 Missense_Mutation T1150A deleterious(0) 671 | 4 55131142 G A PDGFRA Missense_Mutation E229K deleterious(0) 672 | 4 55131142 G T PDGFRA Nonsense_Mutation E229* "" 673 | 4 55131143 A T PDGFRA Missense_Mutation E229V deleterious(0) 674 | 4 55131160 T C PDGFRA Missense_Mutation C235R deleterious(0) 675 | 4 55131161 G A PDGFRA Missense_Mutation C235Y deleterious(0) 676 | 4 55131161 G C PDGFRA Missense_Mutation C235S deleterious(0) 677 | 4 55144146 A T PDGFRA Missense_Mutation N659Y deleterious(0) 678 | 4 55144147 A G PDGFRA Missense_Mutation N659S deleterious(0) 679 | 4 55144148 C G PDGFRA Missense_Mutation N659K deleterious(0) 680 | 4 55152092 G C PDGFRA Missense_Mutation D842H deleterious(0) 681 | 4 55152092 GA AT PDGFRA Missense_Mutation D842I deleterious(0) 682 | 4 55152093 A T PDGFRA Missense_Mutation D842V deleterious(0) 683 | 4 55592178 - TGCCTA KIT INS A502_Y503dup LoF 684 | 4 55593582 AAACCC - KIT DEL W557_K558del LoF 685 | 4 55593584 ACCCATGTATGAAGT - KIT DEL W557_K558del LoF 686 | 4 55593586 CCATGT - KIT DEL W557_K558del LoF 687 | 4 55593587 CATGTATGAAGT - KIT DEL W557_K558del LoF 688 | 4 55593589 TGTATGAAG - KIT DEL W557_K558del LoF 689 | 4 55593590 GTATGA - KIT DEL W557_K558del LoF 690 | 4 55593591 TATGAA - KIT DEL W557_K558del LoF 691 | 4 55593599 ACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGA - KIT DEL W557_K558del LoF 692 | 4 55593600 CAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGAC - KIT DEL W557_K558del LoF 693 | 4 55593601 AGTGGA - KIT DEL W557_K558del LoF 694 | 4 55593602 GTGGAAGGTTGT - KIT DEL W557_K558del LoF 695 | 4 55593603 T C KIT Missense_Mutation W557R deleterious(0) 696 | 4 55593603 T G KIT Missense_Mutation W557G deleterious(0) 697 | 4 55593604 G C KIT Missense_Mutation W557S deleterious(0) 698 | 4 55593604 GGAAGG - KIT DEL W557_K558del LoF 699 | 4 55593605 G T KIT Missense_Mutation W557C deleterious(0) 700 | 4 55593606 AAGGTTGTT - KIT DEL W557_K558del LoF 701 | 4 55593607 AGGTTGTTG - KIT DEL W557_K558del LoF 702 | 4 55593608 GGTTGT - KIT DEL W557_K558del LoF 703 | 4 55593609 GTT - KIT DEL W557_K558del LoF 704 | 4 55593610 T A KIT Missense_Mutation V559D deleterious(0) 705 | 4 55593610 T C KIT Missense_Mutation V559A deleterious(0) 706 | 4 55593610 T G KIT Missense_Mutation V559G deleterious(0) 707 | 4 55593610 TTGT CTGA KIT Missense_Mutation V560D "" 708 | 4 55593610 TTGTTGAGGAGATAAATGGAA - KIT DEL W557_K558del LoF 709 | 4 55593613 T A KIT Missense_Mutation V560D deleterious(0) 710 | 4 55593613 T C KIT Missense_Mutation V560A deleterious(0) 711 | 4 55593613 T G KIT Missense_Mutation V560G deleterious(0.04) 712 | 4 55593628 GAAACAATTATGTTTACATAGACCCAA - KIT DEL W557_K558del LoF 713 | 4 55593629 AAACAATTATGTTTACATAGACCC - KIT DEL W557_K558del LoF 714 | 4 55593631 ACAATTATGTTTACATAGACCCAA - KIT DEL W557_K558del LoF 715 | 4 55593640 TTTACATAGACCCAACACAAC - KIT DEL W557_K558del LoF 716 | 4 55593653 - ACACAACTTCCTTATGATCAT KIT INS W557_K558del LoF 717 | 4 55593655 - ACAACTTCCTTATGAACA KIT INS W557_K558del LoF 718 | 4 55593656 ACA - KIT DEL W557_K558del LoF 719 | 4 55593660 CTT - KIT DEL W557_K558del LoF 720 | 4 55593661 T C KIT Missense_Mutation L576P deleterious(0.02) 721 | 4 55593662 - CCTTATGATCATTTG KIT INS W557_K558del LoF 722 | 4 55593667 ATG - KIT DEL W557_K558del LoF 723 | 4 55594221 A C KIT Missense_Mutation K642Q deleterious(0) 724 | 4 55594221 A G KIT Missense_Mutation K642E deleterious(0) 725 | 4 55594223 A C KIT Missense_Mutation K642N deleterious(0) 726 | 4 55594258 T C KIT Missense_Mutation V654A deleterious(0.02) 727 | 4 55599320 G C KIT Missense_Mutation D816H deleterious(0.01) 728 | 4 55599320 G T KIT Missense_Mutation D816Y deleterious(0) 729 | 4 55599321 A C KIT Missense_Mutation D816A deleterious(0) 730 | 4 55599321 A T KIT Missense_Mutation D816V deleterious(0) 731 | 4 55599332 G T KIT Missense_Mutation D820Y deleterious(0) 732 | 4 55599333 A C KIT Missense_Mutation D820A deleterious(0) 733 | 4 55599333 A G KIT Missense_Mutation D820G deleterious(0) 734 | 4 55599333 A T KIT Missense_Mutation D820V deleterious(0) 735 | 4 55599334 T G KIT Missense_Mutation D820E deleterious(0) 736 | 4 55599338 A T KIT Missense_Mutation N822Y deleterious(0) 737 | 4 55599339 A T KIT Missense_Mutation N822I deleterious(0) 738 | 4 55599340 T A KIT Missense_Mutation N822K deleterious(0) 739 | 4 55599341 T G KIT Missense_Mutation Y823D deleterious(0) 740 | 4 55599342 A G KIT Missense_Mutation Y823C deleterious(0) 741 | 4 55602952 C T KIT Missense_Mutation R888W deleterious(0) 742 | 4 55602953 G A KIT Missense_Mutation R888Q tolerated(0.11) 743 | 4 55956205 G A KDR Missense_Mutation S1037L deleterious(0) 744 | 4 55956206 A T KDR Missense_Mutation S1037T deleterious(0.01) 745 | 4 55956220 C T KDR Missense_Mutation R1032Q deleterious(0) 746 | 4 55956221 G A KDR Nonsense_Mutation R1032* "" 747 | 4 55972944 A T KDR Nonsense_Mutation C482* "" 748 | 4 55972946 A G KDR Missense_Mutation C482R deleterious(0) 749 | 4 106156747 C T TET2 Nonsense_Mutation R550* "" 750 | 4 153244091 C T FBXW7 Missense_Mutation R689Q deleterious(0) 751 | 4 153244092 G A FBXW7 Missense_Mutation R689W deleterious(0) 752 | 4 153244184 C T FBXW7 Missense_Mutation R658Q tolerated(0.15) 753 | 4 153244185 G A FBXW7 Nonsense_Mutation R658* "" 754 | 4 153245446 G A FBXW7 Missense_Mutation S582L tolerated(0.15) 755 | 4 153245447 A G FBXW7 Missense_Mutation S582P deleterious(0) 756 | 4 153247165 G A FBXW7 Missense_Mutation S546L deleterious(0) 757 | 4 153247165 G C FBXW7 Nonsense_Mutation S546* "" 758 | 4 153247166 A G FBXW7 Missense_Mutation S546P deleterious(0) 759 | 4 153247167 A C FBXW7 Nonsense_Mutation Y545* "" 760 | 4 153247168 T C FBXW7 Missense_Mutation Y545C deleterious(0) 761 | 4 153247207 G A FBXW7 Missense_Mutation T532I tolerated(0.11) 762 | 4 153247208 T G FBXW7 Missense_Mutation T532P tolerated(0.14) 763 | 4 153247243 T A FBXW7 Missense_Mutation D520V deleterious(0) 764 | 4 153247243 T C FBXW7 Missense_Mutation D520G deleterious(0) 765 | 4 153247244 C A FBXW7 Missense_Mutation D520Y deleterious(0) 766 | 4 153247244 C G FBXW7 Missense_Mutation D520H deleterious(0) 767 | 4 153247244 C T FBXW7 Missense_Mutation D520N deleterious(0) 768 | 4 153247288 C A FBXW7 Missense_Mutation R505L deleterious(0) 769 | 4 153247288 C G FBXW7 Missense_Mutation R505P deleterious(0) 770 | 4 153247288 C T FBXW7 Missense_Mutation R505H deleterious(0) 771 | 4 153247289 G A FBXW7 Missense_Mutation R505C deleterious(0) 772 | 4 153247289 G C FBXW7 Missense_Mutation R505G deleterious(0) 773 | 4 153247289 G T FBXW7 Missense_Mutation R505S deleterious(0.03) 774 | 4 153247366 C A FBXW7 Missense_Mutation R479L deleterious(0.02) 775 | 4 153247366 C G FBXW7 Missense_Mutation R479P deleterious(0) 776 | 4 153247366 C T FBXW7 Missense_Mutation R479Q deleterious(0.03) 777 | 4 153247367 G A FBXW7 Nonsense_Mutation R479* "" 778 | 4 153247367 G C FBXW7 Missense_Mutation R479G deleterious(0) 779 | 4 153249384 C A FBXW7 Missense_Mutation R465L deleterious(0) 780 | 4 153249384 C G FBXW7 Missense_Mutation R465P deleterious(0) 781 | 4 153249384 C T FBXW7 Missense_Mutation R465H deleterious(0) 782 | 4 153249385 G A FBXW7 Missense_Mutation R465C deleterious(0) 783 | 4 153249385 G C FBXW7 Missense_Mutation R465G deleterious(0) 784 | 4 153249385 G T FBXW7 Missense_Mutation R465S deleterious(0.01) 785 | 4 153249456 C A FBXW7 Missense_Mutation R441L deleterious(0) 786 | 4 153249456 C T FBXW7 Missense_Mutation R441Q deleterious(0.03) 787 | 4 153249457 G A FBXW7 Missense_Mutation R441W deleterious(0) 788 | 4 153249457 G C FBXW7 Missense_Mutation R441G deleterious(0) 789 | 4 153249468 C A FBXW7 Missense_Mutation G437V deleterious(0) 790 | 4 153249468 C T FBXW7 Missense_Mutation G437E deleterious(0) 791 | 4 153249469 C A FBXW7 Nonsense_Mutation G437* "" 792 | 4 153249510 C A FBXW7 Missense_Mutation G423V deleterious(0) 793 | 4 153249510 C G FBXW7 Missense_Mutation G423A deleterious(0.01) 794 | 4 153249511 C A FBXW7 Nonsense_Mutation G423* "" 795 | 4 153250882 C T FBXW7 Missense_Mutation R393Q deleterious(0.02) 796 | 4 153250883 G A FBXW7 Nonsense_Mutation R393* "" 797 | 4 153250906 G A FBXW7 Missense_Mutation T385I deleterious(0) 798 | 4 153250906 G T FBXW7 Missense_Mutation T385K deleterious(0) 799 | 4 153250907 T G FBXW7 Missense_Mutation T385P deleterious(0) 800 | 4 153251906 C G FBXW7 Missense_Mutation R367P tolerated(0.1) 801 | 4 153251907 G A FBXW7 Nonsense_Mutation R367* "" 802 | 4 153258954 C A FBXW7 Missense_Mutation E287D deleterious(0.01) 803 | 4 153258955 T A FBXW7 Missense_Mutation E287V deleterious(0) 804 | 4 153258956 C G FBXW7 Missense_Mutation E287Q deleterious(0) 805 | 4 153258956 C T FBXW7 Missense_Mutation E287K deleterious(0) 806 | 4 153258983 G A FBXW7 Nonsense_Mutation R278* "" 807 | 4 153268137 C T FBXW7 Missense_Mutation R224Q tolerated(0.06) 808 | 4 153268138 G A FBXW7 Nonsense_Mutation R224* "" 809 | 4 153332915 C T FBXW7 Missense_Mutation R14Q deleterious_low_confidence(0.03) 810 | 4 153332916 G A FBXW7 Nonsense_Mutation R14* "" 811 | 4 187542860 C T FAT1 Missense_Mutation R1627Q "" 812 | 4 187542861 G A FAT1 Nonsense_Mutation R1627* "" 813 | 5 236616 C T SDHA Missense_Mutation S445L deleterious_low_confidence(0.02) 814 | 5 256455 C G SDHA Missense_Mutation L639V tolerated_low_confidence(0.06) 815 | 5 256470 G A SDHA Missense_Mutation V644M deleterious_low_confidence(0) 816 | 5 256470 G T SDHA Missense_Mutation V644L deleterious_low_confidence(0) 817 | 5 35873660 C T IL7R Nonsense_Mutation R206* "" 818 | 5 35873661 G A IL7R Missense_Mutation R206Q deleterious(0) 819 | 5 35874565 A C IL7R Missense_Mutation I241L tolerated(0.12) 820 | 5 35874565 A G IL7R Missense_Mutation I241V tolerated(1) 821 | 5 35874565 A T IL7R Missense_Mutation I241F deleterious(0.03) 822 | 5 35874567 C G IL7R Missense_Mutation I241M tolerated(0.08) 823 | 5 35876392 A C IL7R Missense_Mutation K395T tolerated(0.46) 824 | 5 35876392 A G IL7R Missense_Mutation K395R tolerated(0.72) 825 | 5 35876392 A T IL7R Missense_Mutation K395M tolerated(0.2) 826 | 5 35876393 G T IL7R Missense_Mutation K395N tolerated(0.4) 827 | 5 38950648 G A RICTOR Missense_Mutation S1101L deleterious(0) 828 | 5 56161270 T C MAP3K1 Missense_Mutation L380S deleterious(0) 829 | 5 56181765 C G MAP3K1 Missense_Mutation S1330W deleterious(0) 830 | 5 56181765 C T MAP3K1 Missense_Mutation S1330L deleterious(0) 831 | 5 57754228 A G PLK2 Missense_Mutation L208P tolerated(0.06) 832 | 5 57754229 G C PLK2 Missense_Mutation L208V deleterious(0.03) 833 | 5 67588951 C T PIK3R1 Nonsense_Mutation R348* "" 834 | 5 67589138 G A PIK3R1 Missense_Mutation G376R deleterious(0) 835 | 5 67589146 CAA - PIK3R1 DEL L380del LoF 836 | 5 67589147 A G PIK3R1 Missense_Mutation K379E deleterious(0) 837 | 5 67589147 AAA - PIK3R1 DEL L380del LoF 838 | 5 67589149 A T PIK3R1 Missense_Mutation K379N deleterious(0) 839 | 5 67589149 ATT - PIK3R1 DEL L380del LoF 840 | 5 67589199 TAACCTTCAGTTCTG - PIK3R1 DEL I405del LoF 841 | 5 67589207 AGTTCTGTGGTTGAATTA - PIK3R1 DEL I405del LoF 842 | 5 67589212 TGTGGTTGAATTAATAAA - PIK3R1 DEL I405del LoF 843 | 5 67589213 GTGGTTGAATTAATAAACCAC - PIK3R1 DEL I405del LoF 844 | 5 67589216 GTTGAATTAATAAACCACTACCGGAATGAATCTCTA - PIK3R1 DEL I405del LoF 845 | 5 67589217 TTGAAT - PIK3R1 DEL I405del LoF 846 | 5 67589220 AAT - PIK3R1 DEL I405del LoF 847 | 5 67589223 TAA - PIK3R1 DEL I405del LoF 848 | 5 67589550 AAG - PIK3R1 DEL E451_Y452del LoF 849 | 5 67589552 GAAGATAATATTGAAGCTGTAGGGAAAAAATTACAT - PIK3R1 DEL E451_Y452del LoF 850 | 5 67589553 AAGATAATATTGAAGCTGTAGGGAAAA - PIK3R1 DEL E451_Y452del LoF 851 | 5 67589555 GAT - PIK3R1 DEL E451_Y452del LoF 852 | 5 67589556 ATAATATTGAAGCTGTAGGGAAAAAATTACATGAAT - PIK3R1 DEL E451_Y452del LoF 853 | 5 67589557 TAATATTGAAGCTGTAGGGAAAAAATTACATGAATATAACAC - PIK3R1 DEL E451_Y452del LoF 854 | 5 67589562 TTG - PIK3R1 DEL E451_Y452del LoF 855 | 5 67589572 AGGGAAAAAATTACATGA - PIK3R1 DEL E451_Y452del LoF 856 | 5 67589574 GGAAAAAAT - PIK3R1 DEL E451_Y452del LoF 857 | 5 67589577 AAAAATTACATGAATATAACACTCAGTTTCAAG - PIK3R1 DEL E451_Y452del LoF 858 | 5 67589579 AAATTACATGAATATAAC - PIK3R1 DEL E451_Y452del LoF 859 | 5 67589581 ATT - PIK3R1 DEL E451_Y452del LoF 860 | 5 67589582 TTACATGAATATAACACTCAG - PIK3R1 DEL E451_Y452del LoF 861 | 5 67589583 - ACATGAATATAACACTCA PIK3R1 INS E451_Y452del LoF 862 | 5 67589584 ACATGA - PIK3R1 DEL E451_Y452del LoF 863 | 5 67589585 CAT - PIK3R1 DEL E451_Y452del LoF 864 | 5 67589586 ATGAAT - PIK3R1 DEL E451_Y452del LoF 865 | 5 67589588 GAA - PIK3R1 DEL E451_Y452del LoF 866 | 5 67589589 AATATAACACTCAGTTTC - PIK3R1 DEL E451_Y452del LoF 867 | 5 67589590 - TAT PIK3R1 INS E451_Y452del LoF 868 | 5 67589591 - ATAACACTCAGTTTCAAGAAAAAAGTCGAGAATATG PIK3R1 INS E451_Y452del LoF 869 | 5 67589591 T A PIK3R1 Missense_Mutation Y452N deleterious(0.01) 870 | 5 67589591 T C PIK3R1 Missense_Mutation Y452H deleterious(0.03) 871 | 5 67589592 - TTT PIK3R1 INS E451_Y452del LoF 872 | 5 67589592 A G PIK3R1 Missense_Mutation Y452C deleterious(0) 873 | 5 67589594 AAC - PIK3R1 DEL E451_Y452del LoF 874 | 5 67589595 ACACTC - PIK3R1 DEL E451_Y452del LoF 875 | 5 67589598 - TCAGTTTCAAGAAAAAAG PIK3R1 INS E451_Y452del LoF 876 | 5 67589599 TCAGTT - PIK3R1 DEL E451_Y452del LoF 877 | 5 67589601 AGTTTCAAGAAA - PIK3R1 DEL E451_Y452del LoF 878 | 5 67589605 TCAAGAAAAAAG - PIK3R1 DEL E451_Y452del LoF 879 | 5 67589606 CAAGAAAAAAGTCGAGAA - PIK3R1 DEL E451_Y452del LoF 880 | 5 67589607 AAGAAA - PIK3R1 DEL E451_Y452del LoF 881 | 5 67589608 - GAAAAAAGTCGAGAATAT PIK3R1 INS E451_Y452del LoF 882 | 5 67589609 GAAAA AA PIK3R1 DEL E451_Y452del LoF 883 | 5 67589610 AAA - PIK3R1 DEL E451_Y452del LoF 884 | 5 67589615 AGTCGAGAATATGAT - PIK3R1 DEL E451_Y452del LoF 885 | 5 67589617 TCGAGAATATGA - PIK3R1 DEL E451_Y452del LoF 886 | 5 67589618 - GAGAATATGATAGATTATATGAAG PIK3R1 INS E451_Y452del LoF 887 | 5 67589619 GA - PIK3R1 DEL E451_Y452del LoF 888 | 5 67589620 - GAATATGATAGATTATAT PIK3R1 INS E451_Y452del LoF 889 | 5 67589622 AAT - PIK3R1 DEL E451_Y452del LoF 890 | 5 67589623 ATATGATAGATT - PIK3R1 DEL E451_Y452del LoF 891 | 5 67589626 - GATAGATTATATGAA PIK3R1 INS E451_Y452del LoF 892 | 5 67589628 ATAGATTAT - PIK3R1 DEL E451_Y452del LoF 893 | 5 67589629 - AGA PIK3R1 INS E451_Y452del LoF 894 | 5 67589630 - GATTATATGAAG PIK3R1 INS E451_Y452del LoF 895 | 5 67589632 ATT - PIK3R1 DEL E451_Y452del LoF 896 | 5 67589634 - ATATGAAGA PIK3R1 INS E451_Y452del LoF 897 | 5 67589635 ATATGAAGAATA - PIK3R1 DEL E451_Y452del LoF 898 | 5 67589636 TATGAAGAATAT - PIK3R1 DEL E451_Y452del LoF 899 | 5 67591076 CGAGAAATTGACAAA - PIK3R1 DEL T576del LoF 900 | 5 67591078 AGAAATTGACAA - PIK3R1 DEL T576del LoF 901 | 5 67591085 G A PIK3R1 Missense_Mutation D560N deleterious(0) 902 | 5 67591085 G C PIK3R1 Missense_Mutation D560H deleterious(0) 903 | 5 67591085 G T PIK3R1 Missense_Mutation D560Y deleterious(0) 904 | 5 67591086 A G PIK3R1 Missense_Mutation D560G deleterious(0) 905 | 5 67591095 TGAACAGCATTAAACCAGACC - PIK3R1 DEL T576del LoF 906 | 5 67591096 GAA - PIK3R1 DEL T576del LoF 907 | 5 67591097 A G PIK3R1 Missense_Mutation N564D deleterious(0.02) 908 | 5 67591098 ACAGCATTAAAC - PIK3R1 DEL T576del LoF 909 | 5 67591103 ATTAAACCAGACCTT - PIK3R1 DEL T576del LoF 910 | 5 67591104 TTAAACCAGACC - PIK3R1 DEL T576del LoF 911 | 5 67591105 - A PIK3R1 INS T576del LoF 912 | 5 67591106 A G PIK3R1 Missense_Mutation K567E deleterious(0) 913 | 5 67591108 ACCAGACCTTATCCAGCT - PIK3R1 DEL T576del LoF 914 | 5 67591111 AGACCTTATCCAGCTGAGAAAGACGAG - PIK3R1 DEL T576del LoF 915 | 5 67591113 ACC - PIK3R1 DEL T576del LoF 916 | 5 67591114 CCTTATCCAGCTGAGAAAGACGAGAGACCAATACTT - PIK3R1 DEL T576del LoF 917 | 5 67591116 - TTA PIK3R1 INS T576del LoF 918 | 5 67591118 ATCCAGCTGAGAAAG - PIK3R1 DEL T576del LoF 919 | 5 67591119 - CCG PIK3R1 INS T576del LoF 920 | 5 67591122 AGCTGAGAA - PIK3R1 DEL T576del LoF 921 | 5 67591123 GCT - PIK3R1 DEL T576del LoF 922 | 5 67591124 CTGAGA - PIK3R1 DEL T576del LoF 923 | 5 67591125 - GAGAAAGAC PIK3R1 INS T576del LoF 924 | 5 67591126 GAGAAAGAC - PIK3R1 DEL T576del LoF 925 | 5 67591127 AGA - PIK3R1 DEL T576del LoF 926 | 5 67591130 AAGACG - PIK3R1 DEL T576del LoF 927 | 5 67591131 AGACGAGAGACCAATACT - PIK3R1 DEL T576del LoF 928 | 5 67591132 GAC - PIK3R1 DEL T576del LoF 929 | 5 67591135 GAGAGACCAATACTTGA - PIK3R1 DEL T576del LoF 930 | 5 67591136 AGAGAC - PIK3R1 DEL T576del LoF 931 | 5 67591141 CCAATACTTGAT - PIK3R1 DEL T576del LoF 932 | 5 67591143 AATA - PIK3R1 DEL T576del LoF 933 | 5 67591146 A - PIK3R1 DEL T576del LoF 934 | 5 112116592 C T APC Nonsense_Mutation R213* "" 935 | 5 112174096 C A APC Nonsense_Mutation Y935* "" 936 | 5 112175171 C T APC Nonsense_Mutation Q1294* "" 937 | 5 112175198 C T APC Nonsense_Mutation Q1303* "" 938 | 5 112175235 C A APC Nonsense_Mutation S1315* "" 939 | 5 112175273 C T APC Nonsense_Mutation Q1328* "" 940 | 5 112175303 C T APC Nonsense_Mutation Q1338* "" 941 | 5 112175348 G T APC Nonsense_Mutation E1353* "" 942 | 5 112175390 C G APC Missense_Mutation Q1367E "" 943 | 5 112175390 C T APC Nonsense_Mutation Q1367* "" 944 | 5 112175423 C T APC Nonsense_Mutation Q1378* "" 945 | 5 112175426 G T APC Nonsense_Mutation E1379* "" 946 | 5 112175480 G T APC Nonsense_Mutation E1397* "" 947 | 5 112175507 C T APC Nonsense_Mutation Q1406* "" 948 | 5 112175509 G C APC Missense_Mutation Q1406H "" 949 | 5 112175513 G T APC Nonsense_Mutation E1408* "" 950 | 5 112175576 C T APC Nonsense_Mutation Q1429* "" 951 | 5 112175577 A G APC Missense_Mutation Q1429R "" 952 | 5 131895051 G A RAD50 Missense_Mutation D69N deleterious(0) 953 | 5 131895051 G T RAD50 Missense_Mutation D69Y deleterious(0) 954 | 5 176522416 C A FGFR4 Missense_Mutation N535K deleterious(0) 955 | 5 176522551 G A FGFR4 Missense_Mutation V550M deleterious(0) 956 | 5 176522551 G C FGFR4 Missense_Mutation V550L deleterious(0.01) 957 | 5 176687152 G A NSD1 Missense_Mutation C1710Y deleterious(0) 958 | 5 176687152 G C NSD1 Missense_Mutation C1710S deleterious(0) 959 | 5 176687153 C A NSD1 Nonsense_Mutation C1710* "" 960 | 6 394899 T C IRF4 Missense_Mutation C99R deleterious(0) 961 | 6 394900 G A IRF4 Missense_Mutation C99Y deleterious(0) 962 | 6 394972 A G IRF4 Missense_Mutation K123R tolerated(0.05) 963 | 6 407524 T C IRF4 Missense_Mutation Y428H tolerated(0.18) 964 | 6 407526 C G IRF4 Nonsense_Mutation Y428* "" 965 | 6 26031973 C G HIST1H3B Missense_Mutation E106Q deleterious_low_confidence(0) 966 | 6 26031973 C T HIST1H3B Missense_Mutation E106K deleterious_low_confidence(0) 967 | 6 26032136 C G HIST1H3B Missense_Mutation E51D deleterious_low_confidence(0.03) 968 | 6 26032138 C G HIST1H3B Missense_Mutation E51Q deleterious_low_confidence(0) 969 | 6 26032138 C T HIST1H3B Missense_Mutation E51K deleterious_low_confidence(0) 970 | 6 26032206 T A HIST1H3B Missense_Mutation K28M deleterious_low_confidence(0.01) 971 | 6 26032207 T C HIST1H3B Missense_Mutation K28E deleterious_low_confidence(0.01) 972 | 6 26045748 A T HIST1H3C Missense_Mutation K37M deleterious_low_confidence(0.01) 973 | 6 26056119 C G HIST1H1C Missense_Mutation A180P tolerated(0.09) 974 | 6 26056314 C T HIST1H1C Missense_Mutation E115K tolerated(0.24) 975 | 6 26056588 CTT - HIST1H1C DEL K23del LoF 976 | 6 27777960 A G HIST1H3H Missense_Mutation K37E deleterious_low_confidence(0) 977 | 6 27777961 A T HIST1H3H Missense_Mutation K37M deleterious_low_confidence(0.01) 978 | 6 30675161 CCTGGAAACCTTCTCAGCAGCTCTGAT - MDC1 DEL K1025del LoF 979 | 6 30675170 CTT - MDC1 DEL K1025del LoF 980 | 6 31324602 T G HLA-B Missense_Mutation E69A tolerated_low_confidence(0.22) 981 | 6 31324603 C T HLA-B Missense_Mutation E69K tolerated_low_confidence(0.1) 982 | 6 31940123 G A STK19 Missense_Mutation D89N tolerated_low_confidence(0.06) 983 | 6 33287888 - TCT DAXX INS E457del LoF 984 | 6 33287889 TCT - DAXX DEL E457del LoF 985 | 6 33287898 TCC - DAXX DEL E457del LoF 986 | 6 37138355 C G PIM1 Missense_Mutation L2V deleterious_low_confidence(0.01) 987 | 6 37138355 C T PIM1 Missense_Mutation L2F deleterious_low_confidence(0.01) 988 | 6 37138423 G C PIM1 Missense_Mutation K24N tolerated(0.48) 989 | 6 37138549 G A PIM1 Missense_Mutation G28D tolerated(0.09) 990 | 6 37138549 G C PIM1 Missense_Mutation G28A tolerated(0.83) 991 | 6 37138549 G T PIM1 Missense_Mutation G28V tolerated(0.37) 992 | 6 37138577 G T PIM1 Missense_Mutation Q37H tolerated(0.31) 993 | 6 37138804 G C PIM1 Missense_Mutation E79D tolerated(0.19) 994 | 6 37138950 G A PIM1 Missense_Mutation S97N deleterious(0.03) 995 | 6 37138950 G C PIM1 Missense_Mutation S97T tolerated(0.18) 996 | 6 37138951 C G PIM1 Missense_Mutation S97R tolerated(0.12) 997 | 6 41903688 A C CCND3 Missense_Mutation I290R deleterious(0) 998 | 6 41903688 A T CCND3 Missense_Mutation I290K deleterious(0) 999 | 6 41903731 G A CCND3 Nonsense_Mutation Q276* "" 1000 | 6 93967960 C T EPHA7 Missense_Mutation G656E deleterious(0) 1001 | 6 93967961 C A EPHA7 Missense_Mutation G656W deleterious(0) 1002 | 6 93967961 C T EPHA7 Missense_Mutation G656R deleterious(0) 1003 | 6 152332832 G C ESR1 Missense_Mutation E380Q deleterious(0) 1004 | 6 152382152 TGG - ESR1 DEL V422del LoF 1005 | 6 152419920 T A ESR1 Missense_Mutation L536H deleterious(0) 1006 | 6 152419920 T C ESR1 Missense_Mutation L536P deleterious(0.01) 1007 | 6 152419920 T G ESR1 Missense_Mutation L536R deleterious(0) 1008 | 6 152419920 TC AG ESR1 Missense_Mutation L536Q deleterious(0) 1009 | 6 152419922 T A ESR1 Missense_Mutation Y537N deleterious(0) 1010 | 6 152419922 T G ESR1 Missense_Mutation Y537D deleterious(0) 1011 | 6 152419922 TA AG ESR1 Missense_Mutation Y537S deleterious(0) 1012 | 6 152419923 A C ESR1 Missense_Mutation Y537S deleterious(0) 1013 | 6 152419923 A G ESR1 Missense_Mutation Y537C deleterious(0) 1014 | 6 152419926 A G ESR1 Missense_Mutation D538G deleterious(0) 1015 | 6 157488191 G A ARID1B Missense_Mutation G966D "" 1016 | 6 157505554 C T ARID1B Nonsense_Mutation Q1179* "" 1017 | 6 157505555 A C ARID1B Missense_Mutation Q1179P "" 1018 | 6 157525059 A G ARID1B Missense_Mutation T1652A "" 1019 | 6 157525060 C T ARID1B Missense_Mutation T1652M "" 1020 | 7 2963931 C A CARD11 Nonsense_Mutation E626* "" 1021 | 7 2963931 C G CARD11 Missense_Mutation E626Q tolerated(0.09) 1022 | 7 2963931 C T CARD11 Missense_Mutation E626K tolerated(0.16) 1023 | 7 2976744 C T CARD11 Missense_Mutation R423Q tolerated(0.11) 1024 | 7 2976745 G A CARD11 Missense_Mutation R423W deleterious(0) 1025 | 7 2976811 C T CARD11 Missense_Mutation D401N deleterious(0.01) 1026 | 7 2977614 T A CARD11 Missense_Mutation D357V deleterious(0) 1027 | 7 2977615 C T CARD11 Missense_Mutation D357N deleterious(0) 1028 | 7 2978320 C T CARD11 Missense_Mutation R337Q deleterious(0) 1029 | 7 2978321 G A CARD11 Nonsense_Mutation R337* "" 1030 | 7 2979495 A G CARD11 Missense_Mutation L251P tolerated(0.2) 1031 | 7 2983885 C G CARD11 Missense_Mutation K215N deleterious(0) 1032 | 7 2983886 T A CARD11 Missense_Mutation K215M deleterious(0) 1033 | 7 2983886 T G CARD11 Missense_Mutation K215T deleterious(0) 1034 | 7 2985532 C G CARD11 Missense_Mutation E93D deleterious(0) 1035 | 7 2985534 C G CARD11 Missense_Mutation E93Q deleterious(0) 1036 | 7 2985534 C T CARD11 Missense_Mutation E93K deleterious(0) 1037 | 7 6026444 T C PMS2 Missense_Mutation K651R deleterious(0.04) 1038 | 7 6414400 G A RAC1 Missense_Mutation G12R deleterious(0.02) 1039 | 7 6414401 G T RAC1 Missense_Mutation G12V deleterious(0.01) 1040 | 7 6426860 G A RAC1 Missense_Mutation C18Y deleterious(0) 1041 | 7 6426860 G C RAC1 Missense_Mutation C18S deleterious(0.05) 1042 | 7 6426860 G T RAC1 Missense_Mutation C18F deleterious(0) 1043 | 7 6426892 C A RAC1 Missense_Mutation P29T deleterious(0.01) 1044 | 7 6426892 C T RAC1 Missense_Mutation P29S deleterious(0) 1045 | 7 6426892 CC TT RAC1 Missense_Mutation P29F deleterious(0) 1046 | 7 6426893 C T RAC1 Missense_Mutation P29L deleterious(0.02) 1047 | 7 6426907 C T RAC1 Missense_Mutation P34S deleterious(0.01) 1048 | 7 6426908 C A RAC1 Missense_Mutation P34H deleterious(0) 1049 | 7 6426908 C G RAC1 Missense_Mutation P34R deleterious(0) 1050 | 7 6431628 C A RAC1 Missense_Mutation Q61K deleterious(0.01) 1051 | 7 6431629 A G RAC1 Missense_Mutation Q61R deleterious(0.02) 1052 | 7 6439806 A G RAC1 Missense_Mutation N111S deleterious(0) 1053 | 7 6439806 A T RAC1 Missense_Mutation N111I deleterious(0) 1054 | 7 6439807 T A RAC1 Missense_Mutation N111K deleterious(0.01) 1055 | 7 6441557 A G RAC1 Missense_Mutation K135R deleterious(0) 1056 | 7 6441558 A C RAC1 Missense_Mutation K135N deleterious(0) 1057 | 7 6441974 C T RAC1 Missense_Mutation A178V deleterious(0) 1058 | 7 50467675 G A IKZF1 Missense_Mutation E304K deleterious(0) 1059 | 7 50467675 G C IKZF1 Missense_Mutation E304Q deleterious(0.01) 1060 | 7 55210075 T G EGFR Missense_Mutation L62R deleterious(0.01) 1061 | 7 55211079 A G EGFR Missense_Mutation R108G deleterious(0) 1062 | 7 55211080 G A EGFR Missense_Mutation R108K deleterious(0) 1063 | 7 55220274 C T EGFR Missense_Mutation R222C deleterious(0) 1064 | 7 55220275 G A EGFR Missense_Mutation R222H deleterious(0.04) 1065 | 7 55221710 C T EGFR Missense_Mutation R252C deleterious(0.03) 1066 | 7 55221711 G A EGFR Missense_Mutation R252H tolerated(0.12) 1067 | 7 55221711 G C EGFR Missense_Mutation R252P tolerated(0.06) 1068 | 7 55221743 A C EGFR Missense_Mutation T263P tolerated(0.19) 1069 | 7 55221744 C T EGFR Missense_Mutation T263I tolerated(0.13) 1070 | 7 55221821 G A EGFR Missense_Mutation A289T deleterious(0) 1071 | 7 55221821 GC AA EGFR Missense_Mutation A289N deleterious(0) 1072 | 7 55221821 GC AT EGFR Missense_Mutation A289I deleterious(0) 1073 | 7 55221822 C A EGFR Missense_Mutation A289D deleterious(0) 1074 | 7 55221822 C T EGFR Missense_Mutation A289V deleterious(0.02) 1075 | 7 55223543 C T EGFR Missense_Mutation H304Y tolerated(1) 1076 | 7 55224306 A G EGFR Missense_Mutation T363A deleterious(0.02) 1077 | 7 55224307 C A EGFR Missense_Mutation T363N deleterious(0.03) 1078 | 7 55224307 C T EGFR Missense_Mutation T363I deleterious(0) 1079 | 7 55233036 C T EGFR Missense_Mutation P596S deleterious(0) 1080 | 7 55233037 C G EGFR Missense_Mutation P596R deleterious(0.01) 1081 | 7 55233037 C T EGFR Missense_Mutation P596L deleterious(0) 1082 | 7 55233043 G A EGFR Missense_Mutation G598E deleterious(0) 1083 | 7 55233043 G C EGFR Missense_Mutation G598A deleterious(0.01) 1084 | 7 55233043 G T EGFR Missense_Mutation G598V deleterious(0) 1085 | 7 55241677 G A EGFR Missense_Mutation E709K deleterious(0.01) 1086 | 7 55241677 G C EGFR Missense_Mutation E709Q deleterious(0) 1087 | 7 55241678 A C EGFR Missense_Mutation E709A deleterious(0) 1088 | 7 55241679 AAC - EGFR DEL E709_T710delinsD LoF 1089 | 7 55241707 G A EGFR Missense_Mutation G719S deleterious(0) 1090 | 7 55241707 G T EGFR Missense_Mutation G719C deleterious(0) 1091 | 7 55241708 G A EGFR Missense_Mutation G719D deleterious(0) 1092 | 7 55241708 G C EGFR Missense_Mutation G719A deleterious(0) 1093 | 7 55242448 - TTCCCGTCGCTATCAAGG EGFR INS E746_A750del LoF 1094 | 7 55242465 GGAATTAAGAGAAGC - EGFR DEL E746_A750del LoF 1095 | 7 55242466 GAATTAAGAGAAGCA - EGFR DEL E746_A750del LoF 1096 | 7 55242467 AATTAAGAGAAGCAA - EGFR DEL E746_A750del LoF 1097 | 7 55242468 ATTAAGAGAAGCAAC - EGFR DEL E746_A750del LoF 1098 | 7 55242469 TT CC EGFR Missense_Mutation L747P deleterious(0) 1099 | 7 55242469 TTAAGAGAA C EGFR DEL E746_A750del LoF 1100 | 7 55242470 T C EGFR Missense_Mutation L747S deleterious(0) 1101 | 7 55242470 TAAGAGAAGCAACATCTC - EGFR DEL E746_A750del LoF 1102 | 7 55242471 A C EGFR Missense_Mutation L747F deleterious(0) 1103 | 7 55242476 AAGCAACATCTCCGA - EGFR DEL E746_A750del LoF 1104 | 7 55242478 G C EGFR Missense_Mutation A750P tolerated(0.18) 1105 | 7 55242480 AACATCTCCGAAAGCCAACAAGGA - EGFR DEL E746_A750del LoF 1106 | 7 55242483 ATCTCCGAAAGCCAACAAGGAAAT - EGFR DEL E746_A750del LoF 1107 | 7 55242484 TCTCCGAAAGCCAACAAGGAAATC - EGFR DEL E746_A750del LoF 1108 | 7 55242490 A G EGFR Missense_Mutation K754E deleterious(0.02) 1109 | 7 55242490 AAAGCCAACAAGGAAATC - EGFR DEL E746_A750del LoF 1110 | 7 55242491 A T EGFR Missense_Mutation K754I deleterious(0) 1111 | 7 55248990 - CTACGTGATGGCCAGCGTGGA EGFR INS N771_H773dup LoF 1112 | 7 55248998 - TGGCCAGCG EGFR INS N771_H773dup LoF 1113 | 7 55249002 - CAGCGTGGA EGFR INS N771_H773dup LoF 1114 | 7 55249005 G C EGFR Missense_Mutation S768T deleterious(0.01) 1115 | 7 55249005 G T EGFR Missense_Mutation S768I deleterious(0) 1116 | 7 55249009 - GACAACCCC EGFR INS N771_H773dup LoF 1117 | 7 55249010 - ACAACCCCC EGFR INS N771_H773dup LoF 1118 | 7 55249011 - CAACCCCACACC EGFR INS N771_H773dup LoF 1119 | 7 55249012 - GGGTTT EGFR INS N771_H773dup LoF 1120 | 7 55249013 - ACCCCC EGFR INS N771_H773dup LoF 1121 | 7 55249014 - CGT EGFR INS N771_H773dup LoF 1122 | 7 55249017 - CCA EGFR INS N771_H773dup LoF 1123 | 7 55249071 C T EGFR Missense_Mutation T790M deleterious(0) 1124 | 7 55259439 T A EGFR Missense_Mutation L833M tolerated(0.09) 1125 | 7 55259439 T G EGFR Missense_Mutation L833V deleterious(0) 1126 | 7 55259441 G T EGFR Missense_Mutation L833F deleterious(0) 1127 | 7 55259454 C A EGFR Missense_Mutation L838M deleterious(0) 1128 | 7 55259455 T C EGFR Missense_Mutation L838P deleterious(0) 1129 | 7 55259515 T G EGFR Missense_Mutation L858R deleterious(0) 1130 | 7 55259524 T A EGFR Missense_Mutation L861Q deleterious(0) 1131 | 7 74146970 T A GTF2I Missense_Mutation L424H deleterious(0.05) 1132 | 7 74148279 A G GTF2I Missense_Mutation N440S tolerated(0.17) 1133 | 7 74159268 T G GTF2I Missense_Mutation F641C deleterious(0) 1134 | 7 81374376 C G HGF Missense_Mutation G229A deleterious(0) 1135 | 7 81374376 C T HGF Missense_Mutation G229D deleterious(0) 1136 | 7 116412023 A G MET Missense_Mutation Y1003C deleterious(0) 1137 | 7 116412023 A T MET Missense_Mutation Y1003F deleterious(0.01) 1138 | 7 116412024 C G MET Nonsense_Mutation Y1003* "" 1139 | 7 116412043 G A MET Missense_Mutation D1010N tolerated(0.18) 1140 | 7 116412043 G C MET Missense_Mutation D1010H deleterious(0.02) 1141 | 7 116412043 G T MET Missense_Mutation D1010Y deleterious(0.01) 1142 | 7 116415114 GT AG MET Missense_Mutation V1070R deleterious(0) 1143 | 7 116415115 T A MET Missense_Mutation V1070E deleterious(0) 1144 | 7 116415115 T C MET Missense_Mutation V1070A deleterious(0.01) 1145 | 7 116417463 C T MET Missense_Mutation H1094Y deleterious(0) 1146 | 7 116417464 A G MET Missense_Mutation H1094R deleterious(0) 1147 | 7 116422117 T A MET Missense_Mutation F1200I deleterious(0) 1148 | 7 116422117 T G MET Missense_Mutation F1200V deleterious(0) 1149 | 7 116423413 T C MET Missense_Mutation Y1230H deleterious(0) 1150 | 7 116423414 A C MET Missense_Mutation Y1230S deleterious(0) 1151 | 7 116423414 A G MET Missense_Mutation Y1230C deleterious(0) 1152 | 7 116423474 T C MET Missense_Mutation M1250T deleterious(0) 1153 | 7 128846398 C T SMO Missense_Mutation L412F deleterious(0) 1154 | 7 128846405 T C SMO Missense_Mutation V414A deleterious(0.04) 1155 | 7 128846405 TG GT SMO Missense_Mutation V414G deleterious(0) 1156 | 7 128850341 G T SMO Missense_Mutation W535L deleterious(0) 1157 | 7 140453122 TCCATCGAGATT - BRAF DEL T599dup LoF 1158 | 7 140453126 TCGAGATTTCAC - BRAF DEL T599dup LoF 1159 | 7 140453132 T A BRAF Missense_Mutation K601N deleterious(0.02) 1160 | 7 140453133 T G BRAF Missense_Mutation K601T deleterious(0.01) 1161 | 7 140453134 T C BRAF Missense_Mutation K601E deleterious(0) 1162 | 7 140453134 TCA - BRAF DEL T599dup LoF 1163 | 7 140453135 CA TT BRAF Missense_Mutation V600E deleterious(0) 1164 | 7 140453136 A C BRAF Missense_Mutation V600G deleterious(0) 1165 | 7 140453136 A T BRAF Missense_Mutation V600E deleterious(0) 1166 | 7 140453136 AC CT BRAF Missense_Mutation V600R deleterious(0) 1167 | 7 140453136 AC TT BRAF Missense_Mutation V600K deleterious(0) 1168 | 7 140453137 C T BRAF Missense_Mutation V600M deleterious(0) 1169 | 7 140453138 - GTA BRAF INS T599dup LoF 1170 | 7 140453141 - GCTAGACCAAAATCACCTATT BRAF INS T599dup LoF 1171 | 7 140453145 A C BRAF Missense_Mutation L597R deleterious(0.02) 1172 | 7 140453145 A T BRAF Missense_Mutation L597Q deleterious(0) 1173 | 7 140453145 AG GA BRAF Missense_Mutation L597S deleterious(0) 1174 | 7 140453146 G C BRAF Missense_Mutation L597V deleterious(0) 1175 | 7 140453148 C A BRAF Missense_Mutation G596V deleterious(0) 1176 | 7 140453148 C T BRAF Missense_Mutation G596D deleterious(0) 1177 | 7 140453149 C A BRAF Missense_Mutation G596C deleterious(0) 1178 | 7 140453149 C G BRAF Missense_Mutation G596R deleterious(0.01) 1179 | 7 140453149 C T BRAF Missense_Mutation G596S deleterious(0) 1180 | 7 140453153 A T BRAF Missense_Mutation D594E deleterious(0) 1181 | 7 140453154 T A BRAF Missense_Mutation D594V deleterious(0) 1182 | 7 140453154 T C BRAF Missense_Mutation D594G deleterious(0) 1183 | 7 140453155 C A BRAF Missense_Mutation D594Y deleterious(0) 1184 | 7 140453155 C G BRAF Missense_Mutation D594H deleterious(0) 1185 | 7 140453155 C T BRAF Missense_Mutation D594N deleterious(0) 1186 | 7 140453193 T A BRAF Missense_Mutation N581I deleterious(0) 1187 | 7 140453193 T C BRAF Missense_Mutation N581S deleterious(0.04) 1188 | 7 140453193 T G BRAF Missense_Mutation N581T deleterious(0) 1189 | 7 140453987 T A BRAF Missense_Mutation N581Y deleterious(0.01) 1190 | 7 140453987 T C BRAF Missense_Mutation N581D deleterious(0.04) 1191 | 7 140453987 T G BRAF Missense_Mutation N581H deleterious(0) 1192 | 7 140477827 TGCTGAGGTGTAGGT - BRAF DEL N486_P490del LoF 1193 | 7 140477831 GAGGTGTAGGTGCTG - BRAF DEL N486_P490del LoF 1194 | 7 140477832 AGGTGTAGGTGCTGT - BRAF DEL N486_P490del LoF 1195 | 7 140477837 TAGGTGCTGTCACAT - BRAF DEL N486_P490del LoF 1196 | 7 140477842 GCTGTCACA - BRAF DEL N486_P490del LoF 1197 | 7 140477853 C A BRAF Missense_Mutation L485F deleterious(0) 1198 | 7 140477854 A C BRAF Missense_Mutation L485W deleterious(0) 1199 | 7 140477854 A G BRAF Missense_Mutation L485S deleterious(0) 1200 | 7 140477854 A T BRAF Nonsense_Mutation L485* "" 1201 | 7 140481402 C A BRAF Missense_Mutation G469V deleterious(0) 1202 | 7 140481402 C G BRAF Missense_Mutation G469A deleterious(0.01) 1203 | 7 140481402 C T BRAF Missense_Mutation G469E deleterious(0) 1204 | 7 140481402 CC GA BRAF Missense_Mutation G469S deleterious(0.01) 1205 | 7 140481403 C A BRAF Nonsense_Mutation G469* "" 1206 | 7 140481403 C T BRAF Missense_Mutation G469R deleterious(0.01) 1207 | 7 140481411 C A BRAF Missense_Mutation G466V deleterious(0) 1208 | 7 140481411 C G BRAF Missense_Mutation G466A deleterious(0) 1209 | 7 140481411 C T BRAF Missense_Mutation G466E deleterious(0) 1210 | 7 148507460 T C EZH2 Missense_Mutation K665R deleterious(0) 1211 | 7 148507461 T C EZH2 Missense_Mutation K665E deleterious(0) 1212 | 7 148508727 T A EZH2 Missense_Mutation Y646F deleterious(0) 1213 | 7 148508727 T C EZH2 Missense_Mutation Y646C deleterious(0.01) 1214 | 7 148508727 T G EZH2 Missense_Mutation Y646S deleterious(0.02) 1215 | 7 148508728 A G EZH2 Missense_Mutation Y646H deleterious(0) 1216 | 7 148508728 A T EZH2 Missense_Mutation Y646N deleterious(0.04) 1217 | 7 148512600 T C EZH2 Missense_Mutation K515R tolerated(0.09) 1218 | 7 151188048 G C RHEB Nonsense_Mutation Y35* "" 1219 | 7 151188049 T C RHEB Missense_Mutation Y35C deleterious(0) 1220 | 7 151188049 T G RHEB Missense_Mutation Y35S deleterious(0) 1221 | 7 151188050 A G RHEB Missense_Mutation Y35H deleterious(0) 1222 | 7 151188050 A T RHEB Missense_Mutation Y35N deleterious(0) 1223 | 7 151845366 C T KMT2C Missense_Mutation R4549H "" 1224 | 7 151845367 G A KMT2C Missense_Mutation R4549C "" 1225 | 7 151845367 G T KMT2C Missense_Mutation R4549S "" 1226 | 7 152055755 C T KMT2C Missense_Mutation R56Q "" 1227 | 7 152055756 G A KMT2C Nonsense_Mutation R56* "" 1228 | 8 38272306 C A FGFR1 Missense_Mutation K687N deleterious(0) 1229 | 8 38272308 T A FGFR1 Nonsense_Mutation K687* "" 1230 | 8 38272308 T C FGFR1 Missense_Mutation K687E deleterious(0) 1231 | 8 38274849 G C FGFR1 Missense_Mutation N577K deleterious(0) 1232 | 8 38274851 T C FGFR1 Missense_Mutation N577D deleterious(0) 1233 | 8 55370985 C G SOX17 Missense_Mutation A96G deleterious(0) 1234 | 8 55372518 G T SOX17 Missense_Mutation S403I deleterious(0) 1235 | 8 56910944 A C LYN Missense_Mutation I364L deleterious(0.02) 1236 | 8 56910945 T A LYN Missense_Mutation I364N deleterious(0) 1237 | 8 68930087 T G PREX2 Missense_Mutation L50V deleterious(0.04) 1238 | 8 70964514 C T PRDM14 Missense_Mutation R505H deleterious(0) 1239 | 8 70964515 G A PRDM14 Missense_Mutation R505C deleterious(0.03) 1240 | 8 70981486 A C PRDM14 Missense_Mutation F204V tolerated(0.15) 1241 | 8 74858967 G T TCEB1 Nonsense_Mutation Y79* "" 1242 | 8 74858968 T A TCEB1 Missense_Mutation Y79F deleterious(0.04) 1243 | 8 74858968 T C TCEB1 Missense_Mutation Y79C deleterious(0.02) 1244 | 8 74858968 T G TCEB1 Missense_Mutation Y79S deleterious(0) 1245 | 8 74858969 A T TCEB1 Missense_Mutation Y79N deleterious(0.02) 1246 | 8 128748858 G A MYC Missense_Mutation V7M tolerated_low_confidence(0.09) 1247 | 8 128750680 A C MYC Missense_Mutation T73P deleterious(0.03) 1248 | 8 128750680 A G MYC Missense_Mutation T73A deleterious(0.02) 1249 | 8 128750681 C T MYC Missense_Mutation T73I deleterious(0) 1250 | 8 128750683 C A MYC Missense_Mutation P74T deleterious(0.02) 1251 | 8 128750683 C T MYC Missense_Mutation P74S deleterious(0) 1252 | 8 128750684 C A MYC Missense_Mutation P74Q deleterious(0) 1253 | 8 128750684 C G MYC Missense_Mutation P74R deleterious(0) 1254 | 8 128750684 C T MYC Missense_Mutation P74L deleterious(0) 1255 | 8 128750945 C T MYC Missense_Mutation S161L deleterious(0) 1256 | 8 128752729 CTT - MYC DEL S298del LoF 1257 | 9 8518099 G A PTPRD Missense_Mutation S431L deleterious(0.01) 1258 | 9 8518099 G T PTPRD Nonsense_Mutation S431* "" 1259 | 9 21970969 A C CDKN2A Missense_Mutation L130R deleterious(0) 1260 | 9 21970969 A T CDKN2A Missense_Mutation L130Q deleterious(0) 1261 | 9 21970970 G C CDKN2A Missense_Mutation L130V deleterious(0) 1262 | 9 21970971 G C CDKN2A Nonsense_Mutation Y129* "" 1263 | 9 21970972 T C CDKN2A Missense_Mutation Y129C deleterious(0) 1264 | 9 21970998 C A CDKN2A Missense_Mutation E120D tolerated(0.05) 1265 | 9 21971000 C A CDKN2A Nonsense_Mutation E120* "" 1266 | 9 21971000 C T CDKN2A Missense_Mutation E120K tolerated(0.08) 1267 | 9 21971016 G A CDKN2A Missense_Mutation P114P tolerated_low_confidence(0.19) 1268 | 9 21971016 GG AA CDKN2A Missense_Mutation P114L deleterious(0) 1269 | 9 21971017 G A CDKN2A Missense_Mutation P114L deleterious(0) 1270 | 9 21971017 G T CDKN2A Missense_Mutation P114H deleterious(0) 1271 | 9 21971017 GG AA CDKN2A Missense_Mutation P114F deleterious(0) 1272 | 9 21971018 G A CDKN2A Missense_Mutation P114S deleterious(0) 1273 | 9 21971018 G T CDKN2A Missense_Mutation P114T deleterious(0) 1274 | 9 21971028 C T CDKN2A Nonsense_Mutation W110* "" 1275 | 9 21971029 C T CDKN2A Nonsense_Mutation W110* "" 1276 | 9 21971035 T A CDKN2A Missense_Mutation D108V deleterious(0) 1277 | 9 21971035 T C CDKN2A Missense_Mutation D108G deleterious(0) 1278 | 9 21971036 C A CDKN2A Missense_Mutation D108Y deleterious(0) 1279 | 9 21971036 C G CDKN2A Missense_Mutation D108H deleterious(0) 1280 | 9 21971036 C T CDKN2A Missense_Mutation D108N deleterious(0.03) 1281 | 9 21971096 C A CDKN2A Nonsense_Mutation E88* "" 1282 | 9 21971096 C T CDKN2A Missense_Mutation E88K deleterious(0.05) 1283 | 9 21971106 G A CDKN2A Missense_Mutation D84D tolerated_low_confidence(0.08) 1284 | 9 21971107 T A CDKN2A Missense_Mutation D84V deleterious(0) 1285 | 9 21971107 T C CDKN2A Missense_Mutation D84G deleterious(0) 1286 | 9 21971107 T G CDKN2A Missense_Mutation D84A deleterious(0) 1287 | 9 21971108 C A CDKN2A Missense_Mutation D84Y deleterious(0) 1288 | 9 21971108 C T CDKN2A Missense_Mutation D84N deleterious(0) 1289 | 9 21971109 G C CDKN2A Missense_Mutation H83Q deleterious(0) 1290 | 9 21971110 T C CDKN2A Missense_Mutation H83R deleterious(0) 1291 | 9 21971111 G A CDKN2A Missense_Mutation H83Y deleterious(0) 1292 | 9 21971111 G C CDKN2A Missense_Mutation H83D deleterious(0) 1293 | 9 21971111 GC TG CDKN2A Missense_Mutation H83N "" 1294 | 9 21971119 C T CDKN2A Missense_Mutation R80Q tolerated(0.13) 1295 | 9 21971120 G A CDKN2A Nonsense_Mutation R80* "" 1296 | 9 21971137 T A CDKN2A Missense_Mutation D74V deleterious(0) 1297 | 9 21971137 T C CDKN2A Missense_Mutation D74G deleterious(0) 1298 | 9 21971138 C A CDKN2A Missense_Mutation D74Y deleterious(0) 1299 | 9 21971138 C T CDKN2A Missense_Mutation D74N deleterious(0) 1300 | 9 21971184 T G CDKN2A Missense_Mutation R58R tolerated_low_confidence(0.43) 1301 | 9 21971186 G A CDKN2A Nonsense_Mutation R58* "" 1302 | 9 21974677 C A CDKN2A Missense_Mutation Q50H deleterious(0) 1303 | 9 21974678 T C CDKN2A Missense_Mutation Q50R deleterious(0) 1304 | 9 21974679 GG AT CDKN2A Nonsense_Mutation Q50* "" 1305 | 9 21974684 G A CDKN2A Missense_Mutation P48L deleterious(0) 1306 | 9 21974684 G C CDKN2A Missense_Mutation P48R deleterious(0) 1307 | 9 21974701 A C CDKN2A Missense_Mutation N42K deleterious(0) 1308 | 9 21974702 T A CDKN2A Missense_Mutation N42I deleterious(0) 1309 | 9 21974702 TTCGGTGCGTTG - CDKN2A DEL V28_E33del LoF 1310 | 9 21974703 T A CDKN2A Missense_Mutation N42Y deleterious(0) 1311 | 9 21974703 T G CDKN2A Missense_Mutation N42H deleterious(0) 1312 | 9 21974712 TGGGCAGCG - CDKN2A DEL V28_E33del LoF 1313 | 9 21974715 GCAGCGCCCCCGCCTCCA - CDKN2A DEL V28_E33del LoF 1314 | 9 21974719 CGCCCC - CDKN2A DEL V28_E33del LoF 1315 | 9 21974725 CGCCTCCAGCAGCGCCCG - CDKN2A DEL V28_E33del LoF 1316 | 9 21974727 CCTCCAGCAGCGCCCGCA - CDKN2A DEL V28_E33del LoF 1317 | 9 21974745 CCT - CDKN2A DEL V28_E33del LoF 1318 | 9 21974792 G A CDKN2A Missense_Mutation S12L tolerated(0.81) 1319 | 9 21974792 G T CDKN2A Nonsense_Mutation S12* "" 1320 | 9 37020768 A C PAX5 Missense_Mutation V26G deleterious(0) 1321 | 9 80409487 T G GNAQ Missense_Mutation Q209H deleterious(0) 1322 | 9 80409488 T A GNAQ Missense_Mutation Q209L deleterious(0) 1323 | 9 80409488 T G GNAQ Missense_Mutation Q209P deleterious(0) 1324 | 9 80412493 C T GNAQ Missense_Mutation R183Q deleterious(0.03) 1325 | 9 80412494 G A GNAQ Nonsense_Mutation R183* "" 1326 | 9 80537112 T A GNAQ Missense_Mutation T96S tolerated(0.23) 1327 | 9 80537255 C A GNAQ Missense_Mutation G48V deleterious(0) 1328 | 9 80537255 CC AA GNAQ Missense_Mutation G48L deleterious(0) 1329 | 9 80537256 C A GNAQ Nonsense_Mutation G48* "" 1330 | 9 101900288 C A TGFBR1 Nonsense_Mutation S241* "" 1331 | 9 101900288 C T TGFBR1 Missense_Mutation S241L deleterious(0) 1332 | 9 101900342 T A TGFBR1 Missense_Mutation I259N deleterious(0) 1333 | 9 101907164 C A TGFBR1 Missense_Mutation T375K deleterious(0) 1334 | 9 101907164 C G TGFBR1 Missense_Mutation T375R deleterious(0) 1335 | 9 101907164 C T TGFBR1 Missense_Mutation T375I deleterious(0) 1336 | 9 101911534 C T TGFBR1 Missense_Mutation R487W deleterious(0) 1337 | 9 101911535 G A TGFBR1 Missense_Mutation R487Q deleterious(0) 1338 | 9 110249346 C G KLF4 Missense_Mutation K409N deleterious(0) 1339 | 9 110249348 T G KLF4 Missense_Mutation K409Q deleterious(0) 1340 | 9 127912061 G A PPP6C Missense_Mutation S270L deleterious(0.02) 1341 | 9 127912080 G A PPP6C Missense_Mutation R264C deleterious(0) 1342 | 9 137328351 C A RXRA Missense_Mutation S427Y deleterious(0) 1343 | 9 137328351 C T RXRA Missense_Mutation S427F deleterious(0) 1344 | 9 139405633 A C NOTCH1 Missense_Mutation F853C deleterious(0) 1345 | 9 139405634 A T NOTCH1 Missense_Mutation F853I deleterious(0) 1346 | 9 139412233 A G NOTCH1 Missense_Mutation I471T deleterious(0.03) 1347 | 9 139412282 C T NOTCH1 Missense_Mutation E455K deleterious(0) 1348 | 9 139412325 A C NOTCH1 Missense_Mutation C440W deleterious(0) 1349 | 9 139412326 C A NOTCH1 Missense_Mutation C440F deleterious(0) 1350 | 9 139412326 C G NOTCH1 Missense_Mutation C440S deleterious(0) 1351 | 9 139412327 A G NOTCH1 Missense_Mutation C440R deleterious(0) 1352 | 9 139413049 G A NOTCH1 Missense_Mutation R365C deleterious(0.01) 1353 | 9 139413049 G T NOTCH1 Missense_Mutation R365S tolerated(0.07) 1354 | 9 139413065 GCA - NOTCH1 DEL F357del LoF 1355 | 9 139413067 AGT - NOTCH1 DEL F357del LoF 1356 | 9 139413070 AGA - NOTCH1 DEL F357del LoF 1357 | 9 139413073 AGG - NOTCH1 DEL F357del LoF 1358 | 9 139413129 TCA - NOTCH1 DEL D338del LoF 1359 | 9 139413213 C T NOTCH1 Missense_Mutation G310E deleterious(0) 1360 | 9 139413214 C T NOTCH1 Missense_Mutation G310R deleterious(0) 1361 | 10 8106058 T A GATA3 Missense_Mutation M293K deleterious(0) 1362 | 10 8106058 T G GATA3 Missense_Mutation M293R deleterious(0) 1363 | 10 8115744 A G GATA3 Missense_Mutation R364G deleterious(0) 1364 | 10 8115745 G C GATA3 Missense_Mutation R364T deleterious(0) 1365 | 10 8115746 A T GATA3 Missense_Mutation R364S deleterious(0.04) 1366 | 10 8115750 C T GATA3 Nonsense_Mutation R366* "" 1367 | 10 8115751 G A GATA3 Missense_Mutation R366Q deleterious(0) 1368 | 10 43617416 T C RET Missense_Mutation M918T deleterious(0) 1369 | 10 70446314 C T TET1 Missense_Mutation P1752S deleterious(0.01) 1370 | 10 89624272 - A PTEN Nonsense_Mutation Y16* "" 1371 | 10 89624272 T G PTEN Missense_Mutation Y16D deleterious(0) 1372 | 10 89624274 T A PTEN Nonsense_Mutation Y16* "" 1373 | 10 89624296 G A PTEN Missense_Mutation D24N deleterious(0) 1374 | 10 89624296 G C PTEN Missense_Mutation D24H deleterious(0) 1375 | 10 89624297 A G PTEN Missense_Mutation D24G deleterious(0) 1376 | 10 89624297 A T PTEN Missense_Mutation D24V deleterious(0.01) 1377 | 10 89624298 C G PTEN Missense_Mutation D24E tolerated(0.06) 1378 | 10 89624305 T A PTEN Missense_Mutation Y27N deleterious(0.01) 1379 | 10 89624305 T C PTEN Missense_Mutation Y27H deleterious(0.01) 1380 | 10 89624305 T G PTEN Missense_Mutation Y27D deleterious(0.04) 1381 | 10 89653782 A G PTEN Missense_Mutation Y27C tolerated(0.05) 1382 | 10 89653783 T A PTEN Nonsense_Mutation Y27* "" 1383 | 10 89653805 A G PTEN Missense_Mutation M35V deleterious(0) 1384 | 10 89653805 A T PTEN Missense_Mutation M35L deleterious(0.05) 1385 | 10 89653807 G T PTEN Missense_Mutation M35I deleterious(0) 1386 | 10 89653814 C T PTEN Missense_Mutation P38S deleterious(0) 1387 | 10 89653814 CC TT PTEN Missense_Mutation P38F deleterious(0) 1388 | 10 89653815 C T PTEN Missense_Mutation P38L deleterious(0) 1389 | 10 89685286 C A PTEN Missense_Mutation H61N deleterious(0) 1390 | 10 89685286 C T PTEN Missense_Mutation H61Y deleterious(0.03) 1391 | 10 89685287 A G PTEN Missense_Mutation H61R deleterious(0) 1392 | 10 89685300 C A PTEN Nonsense_Mutation Y65* "" 1393 | 10 89685304 A G PTEN Missense_Mutation I67V tolerated(0.3) 1394 | 10 89685305 T A PTEN Missense_Mutation I67K deleterious(0) 1395 | 10 89685305 T C PTEN Missense_Mutation I67T deleterious(0) 1396 | 10 89685307 T A PTEN Missense_Mutation Y68N deleterious(0.02) 1397 | 10 89685307 T C PTEN Missense_Mutation Y68H deleterious(0.01) 1398 | 10 89685308 A G PTEN Missense_Mutation Y68C deleterious(0) 1399 | 10 89685309 C G PTEN Nonsense_Mutation Y68* "" 1400 | 10 89690805 G A PTEN Missense_Mutation C71Y deleterious(0) 1401 | 10 89690805 G T PTEN Missense_Mutation C71F deleterious(0) 1402 | 10 89690806 T A PTEN Nonsense_Mutation C71* "" 1403 | 10 89692790 G A PTEN Missense_Mutation D92N deleterious(0) 1404 | 10 89692790 G C PTEN Missense_Mutation D92H deleterious(0) 1405 | 10 89692790 G T PTEN Missense_Mutation D92Y deleterious(0) 1406 | 10 89692791 A G PTEN Missense_Mutation D92G deleterious(0) 1407 | 10 89692791 A T PTEN Missense_Mutation D92V deleterious(0) 1408 | 10 89692792 C G PTEN Missense_Mutation D92E deleterious(0) 1409 | 10 89692793 C T PTEN Missense_Mutation H93Y deleterious(0) 1410 | 10 89692794 A C PTEN Missense_Mutation H93P deleterious(0) 1411 | 10 89692794 A G PTEN Missense_Mutation H93R deleterious(0.03) 1412 | 10 89692794 A T PTEN Missense_Mutation H93L deleterious(0) 1413 | 10 89692818 T C PTEN Missense_Mutation I101T deleterious(0) 1414 | 10 89692829 T A PTEN Missense_Mutation C105S deleterious(0) 1415 | 10 89692829 T C PTEN Missense_Mutation C105R deleterious(0) 1416 | 10 89692829 T G PTEN Missense_Mutation C105G deleterious(0.01) 1417 | 10 89692830 G A PTEN Missense_Mutation C105Y deleterious(0) 1418 | 10 89692831 T A PTEN Nonsense_Mutation C105* "" 1419 | 10 89692831 T G PTEN Missense_Mutation C105W deleterious(0) 1420 | 10 89692847 T C PTEN Missense_Mutation W111R deleterious(0) 1421 | 10 89692847 T G PTEN Missense_Mutation W111G deleterious(0) 1422 | 10 89692848 G A PTEN Nonsense_Mutation W111* "" 1423 | 10 89692848 G C PTEN Missense_Mutation W111S deleterious(0) 1424 | 10 89692849 G A PTEN Nonsense_Mutation W111* "" 1425 | 10 89692886 T A PTEN Missense_Mutation C124S deleterious(0) 1426 | 10 89692886 T C PTEN Missense_Mutation C124R deleterious(0) 1427 | 10 89692886 T G PTEN Missense_Mutation C124G deleterious(0.01) 1428 | 10 89692887 G A PTEN Missense_Mutation C124Y deleterious(0) 1429 | 10 89692887 G C PTEN Missense_Mutation C124S deleterious(0) 1430 | 10 89692892 G T PTEN Missense_Mutation A126S deleterious(0) 1431 | 10 89692893 C A PTEN Missense_Mutation A126D deleterious(0) 1432 | 10 89692893 C G PTEN Missense_Mutation A126G deleterious(0) 1433 | 10 89692893 C T PTEN Missense_Mutation A126V deleterious(0.03) 1434 | 10 89692895 G A PTEN Missense_Mutation G127R deleterious(0) 1435 | 10 89692895 G T PTEN Nonsense_Mutation G127* "" 1436 | 10 89692896 G A PTEN Missense_Mutation G127E deleterious(0.03) 1437 | 10 89692896 G T PTEN Missense_Mutation G127V deleterious(0) 1438 | 10 89692901 G A PTEN Missense_Mutation G129R deleterious(0) 1439 | 10 89692901 G T PTEN Nonsense_Mutation G129* "" 1440 | 10 89692902 G A PTEN Missense_Mutation G129E deleterious(0) 1441 | 10 89692902 G T PTEN Missense_Mutation G129V deleterious(0) 1442 | 10 89692903 ACGA CAGT PTEN Missense_Mutation R130S "" 1443 | 10 89692904 C G PTEN Missense_Mutation R130G deleterious(0) 1444 | 10 89692904 C T PTEN Nonsense_Mutation R130* "" 1445 | 10 89692905 G A PTEN Missense_Mutation R130Q deleterious(0.02) 1446 | 10 89692905 G C PTEN Missense_Mutation R130P deleterious(0) 1447 | 10 89692905 G T PTEN Missense_Mutation R130L deleterious(0) 1448 | 10 89692910 G A PTEN Missense_Mutation G132S deleterious(0) 1449 | 10 89692911 G A PTEN Missense_Mutation G132D deleterious(0.03) 1450 | 10 89692911 G C PTEN Missense_Mutation G132A deleterious(0) 1451 | 10 89692911 G T PTEN Missense_Mutation G132V deleterious(0) 1452 | 10 89692922 T C PTEN Missense_Mutation C136R deleterious(0.02) 1453 | 10 89692923 G A PTEN Missense_Mutation C136Y deleterious(0.04) 1454 | 10 89692923 G T PTEN Missense_Mutation C136F deleterious(0) 1455 | 10 89692924 T A PTEN Nonsense_Mutation C136* "" 1456 | 10 89692935 T G PTEN Nonsense_Mutation L140* "" 1457 | 10 89692936 A T PTEN Missense_Mutation L140F deleterious(0) 1458 | 10 89692953 T G PTEN Nonsense_Mutation L146* "" 1459 | 10 89692979 T C PTEN Missense_Mutation Y155H deleterious(0) 1460 | 10 89692980 A G PTEN Missense_Mutation Y155C deleterious(0) 1461 | 10 89711875 G A PTEN Missense_Mutation G165R deleterious(0) 1462 | 10 89711875 GGAGTAACTATTCCCAGTCAGAGGC TA PTEN Nonsense_Mutation G165* "" 1463 | 10 89711876 G A PTEN Missense_Mutation G165E deleterious(0) 1464 | 10 89711890 A G PTEN Missense_Mutation S170G deleterious(0) 1465 | 10 89711891 G A PTEN Missense_Mutation S170N deleterious(0) 1466 | 10 89711891 G T PTEN Missense_Mutation S170I deleterious(0) 1467 | 10 89711893 C A PTEN Missense_Mutation Q171K deleterious(0) 1468 | 10 89711893 C T PTEN Nonsense_Mutation Q171* "" 1469 | 10 89711894 A G PTEN Missense_Mutation Q171R deleterious(0) 1470 | 10 89711899 C T PTEN Missense_Mutation R173C deleterious(0.02) 1471 | 10 89711900 G A PTEN Missense_Mutation R173H deleterious(0.03) 1472 | 10 89711900 G C PTEN Missense_Mutation R173P deleterious(0) 1473 | 10 89711902 T C PTEN Missense_Mutation Y174H deleterious(0) 1474 | 10 89711902 T G PTEN Missense_Mutation Y174D deleterious(0) 1475 | 10 89711904 T A PTEN Nonsense_Mutation Y174* "" 1476 | 10 89711911 T G PTEN Missense_Mutation Y177D deleterious(0) 1477 | 10 89711912 A G PTEN Missense_Mutation Y177C deleterious(0) 1478 | 10 89711912 A T PTEN Missense_Mutation Y177F deleterious(0) 1479 | 10 89711913 T A PTEN Nonsense_Mutation Y177* "" 1480 | 10 89711914 T C PTEN Missense_Mutation Y178H deleterious(0) 1481 | 10 89711915 A G PTEN Missense_Mutation Y178C deleterious(0.01) 1482 | 10 89711916 T G PTEN Nonsense_Mutation Y178* "" 1483 | 10 89717672 C T PTEN Nonsense_Mutation R233* "" 1484 | 10 89717673 G A PTEN Missense_Mutation R233Q tolerated(0.12) 1485 | 10 89717715 T A PTEN Nonsense_Mutation L247* "" 1486 | 10 89717716 A C PTEN Missense_Mutation L247F deleterious(0.03) 1487 | 10 89717727 G A PTEN Missense_Mutation G251D deleterious(0.03) 1488 | 10 89717727 G C PTEN Missense_Mutation G251A deleterious(0) 1489 | 10 89717727 G T PTEN Missense_Mutation G251V deleterious(0) 1490 | 10 89720670 G A PTEN Nonsense_Mutation W274* "" 1491 | 10 89720670 GG CT PTEN Missense_Mutation W274S deleterious(0) 1492 | 10 89720671 G A PTEN Nonsense_Mutation W274* "" 1493 | 10 89720678 A G PTEN Missense_Mutation T277A deleterious(0) 1494 | 10 89720678 AC TA PTEN Nonsense_Mutation T277* "" 1495 | 10 89720679 C T PTEN Missense_Mutation T277I deleterious(0) 1496 | 10 89720679 CA AT PTEN Missense_Mutation T277N deleterious(0) 1497 | 10 89720807 T G PTEN Missense_Mutation L320V deleterious(0.01) 1498 | 10 89720808 T C PTEN Missense_Mutation L320S deleterious(0) 1499 | 10 89720808 T G PTEN Nonsense_Mutation L320* "" 1500 | 10 89720852 C G PTEN Missense_Mutation R335G deleterious(0) 1501 | 10 89720852 C T PTEN Nonsense_Mutation R335* "" 1502 | 10 89720853 G C PTEN Missense_Mutation R335P deleterious(0) 1503 | 10 89720857 C G PTEN Nonsense_Mutation Y336* "" 1504 | 10 89725053 T C PTEN Missense_Mutation Y346H tolerated(0.24) 1505 | 10 89725053 T G PTEN Missense_Mutation Y346D tolerated(0.09) 1506 | 10 89725054 A G PTEN Missense_Mutation Y346C tolerated(0.08) 1507 | 10 89725055 C G PTEN Nonsense_Mutation Y346* "" 1508 | 10 114925333 C A TCF7L2 Missense_Mutation R471S tolerated(0.05) 1509 | 10 114925333 C T TCF7L2 Missense_Mutation R471C deleterious(0) 1510 | 10 114925334 G A TCF7L2 Missense_Mutation R471H deleterious(0.05) 1511 | 10 123258034 A C FGFR2 Missense_Mutation N549K deleterious(0) 1512 | 10 123258035 T C FGFR2 Missense_Mutation N549S deleterious(0) 1513 | 10 123258035 T G FGFR2 Missense_Mutation N549T deleterious(0) 1514 | 10 123258036 T G FGFR2 Missense_Mutation N549H deleterious(0) 1515 | 10 123274773 C T FGFR2 Missense_Mutation C382Y deleterious(0.03) 1516 | 10 123274774 A G FGFR2 Missense_Mutation C382R deleterious(0.03) 1517 | 10 123274794 T C FGFR2 Missense_Mutation Y375C deleterious(0) 1518 | 10 123279605 A C FGFR2 Missense_Mutation F276C deleterious(0) 1519 | 10 123279606 A T FGFR2 Missense_Mutation F276I deleterious(0) 1520 | 10 123279674 G A FGFR2 Missense_Mutation P253L deleterious(0.03) 1521 | 10 123279674 G C FGFR2 Missense_Mutation P253R deleterious(0.01) 1522 | 10 123279677 G A FGFR2 Missense_Mutation S252L tolerated(0.08) 1523 | 10 123279677 G C FGFR2 Missense_Mutation S252W deleterious(0.01) 1524 | 10 123310820 C T FGFR2 Missense_Mutation R203H deleterious(0.03) 1525 | 10 123310821 G A FGFR2 Missense_Mutation R203C deleterious(0) 1526 | 11 533552 C G HRAS Missense_Mutation K117N deleterious(0.01) 1527 | 11 533553 T C HRAS Missense_Mutation K117R deleterious(0) 1528 | 11 533873 C A HRAS Missense_Mutation Q61H deleterious(0.03) 1529 | 11 533874 T A HRAS Missense_Mutation Q61L deleterious(0) 1530 | 11 533874 T C HRAS Missense_Mutation Q61R tolerated(0.07) 1531 | 11 533875 G T HRAS Missense_Mutation Q61K deleterious(0.02) 1532 | 11 534285 C A HRAS Missense_Mutation G13V deleterious(0.02) 1533 | 11 534285 C T HRAS Missense_Mutation G13D deleterious(0.04) 1534 | 11 534285 CC AT HRAS Missense_Mutation G13I deleterious(0) 1535 | 11 534285 CC TT HRAS Missense_Mutation G13N deleterious(0) 1536 | 11 534286 C A HRAS Missense_Mutation G13C deleterious(0.02) 1537 | 11 534286 C G HRAS Missense_Mutation G13R deleterious(0) 1538 | 11 534286 C T HRAS Missense_Mutation G13S deleterious(0.02) 1539 | 11 534288 C A HRAS Missense_Mutation G12V deleterious(0) 1540 | 11 534288 C G HRAS Missense_Mutation G12A deleterious(0.02) 1541 | 11 534288 C T HRAS Missense_Mutation G12D deleterious(0) 1542 | 11 534288 CC TT HRAS Missense_Mutation G12N deleterious(0) 1543 | 11 534289 C A HRAS Missense_Mutation G12C deleterious(0.04) 1544 | 11 534289 C T HRAS Missense_Mutation G12S deleterious(0.02) 1545 | 11 14316389 T A RRAS2 Missense_Mutation Q72H deleterious(0) 1546 | 11 14316390 T A RRAS2 Missense_Mutation Q72L deleterious(0) 1547 | 11 17741693 C A MYOD1 Missense_Mutation L122M deleterious(0) 1548 | 11 17741694 T G MYOD1 Missense_Mutation L122R deleterious(0) 1549 | 11 61197646 T G SDHAF2 Missense_Mutation S10A tolerated_low_confidence(0.96) 1550 | 11 61197647 C A SDHAF2 Nonsense_Mutation S10* "" 1551 | 11 61197647 C T SDHAF2 Missense_Mutation S10L tolerated_low_confidence(0.83) 1552 | 11 64129169 C T RPS6KA4 Missense_Mutation S236L tolerated(0.18) 1553 | 11 64137783 CC TT RPS6KA4 Missense_Mutation R629C "" 1554 | 11 64137784 C T RPS6KA4 Missense_Mutation R629C tolerated(0.06) 1555 | 11 64137785 G A RPS6KA4 Missense_Mutation R629H deleterious(0.02) 1556 | 11 69456106 G A CCND1 Missense_Mutation E9K deleterious(0) 1557 | 11 69456108 A T CCND1 Missense_Mutation E9D deleterious(0.01) 1558 | 11 69456211 T C CCND1 Missense_Mutation Y44H deleterious(0) 1559 | 11 69456211 T G CCND1 Missense_Mutation Y44D deleterious(0) 1560 | 11 69456212 A C CCND1 Missense_Mutation Y44S deleterious(0) 1561 | 11 69456212 A G CCND1 Missense_Mutation Y44C deleterious(0) 1562 | 11 69456212 A T CCND1 Missense_Mutation Y44F deleterious(0) 1563 | 11 69456213 C G CCND1 Nonsense_Mutation Y44* "" 1564 | 11 69456219 AT TG CCND1 Missense_Mutation C47G "" 1565 | 11 69456220 T A CCND1 Missense_Mutation C47S tolerated(0.05) 1566 | 11 69466018 A G CCND1 Missense_Mutation T286A deleterious(0.01) 1567 | 11 69466019 C T CCND1 Missense_Mutation T286I deleterious(0) 1568 | 11 69466021 C A CCND1 Missense_Mutation P287T deleterious(0) 1569 | 11 69466021 C G CCND1 Missense_Mutation P287A deleterious(0) 1570 | 11 69466021 C T CCND1 Missense_Mutation P287S deleterious(0) 1571 | 11 69466022 C G CCND1 Missense_Mutation P287R deleterious(0) 1572 | 11 69466022 C T CCND1 Missense_Mutation P287L deleterious(0) 1573 | 11 71939260 G A INPPL1 Missense_Mutation R70H deleterious(0) 1574 | 11 71949087 C A INPPL1 Missense_Mutation A1185D tolerated(0.09) 1575 | 11 100912815 C T PGR Missense_Mutation R836Q deleterious(0.01) 1576 | 11 100912816 G A PGR Nonsense_Mutation R836* "" 1577 | 11 108115600 C T ATM Nonsense_Mutation R250* "" 1578 | 11 108115601 G C ATM Missense_Mutation R250P deleterious(0.01) 1579 | 11 108117798 C T ATM Missense_Mutation R337C deleterious(0) 1580 | 11 108117799 G A ATM Missense_Mutation R337H deleterious(0.02) 1581 | 11 108160488 C T ATM Nonsense_Mutation R1466* "" 1582 | 11 108160489 G A ATM Missense_Mutation R1466Q tolerated(0.12) 1583 | 11 108160489 G C ATM Missense_Mutation R1466P deleterious(0) 1584 | 11 108216545 C A ATM Missense_Mutation R2832S deleterious(0) 1585 | 11 108216545 C T ATM Missense_Mutation R2832C deleterious(0) 1586 | 11 108218045 A C ATM Missense_Mutation N2875T deleterious(0) 1587 | 11 108218045 A G ATM Missense_Mutation N2875S deleterious(0) 1588 | 11 108218046 T A ATM Missense_Mutation N2875K deleterious(0) 1589 | 11 108218083 A T ATM Missense_Mutation I2888L deleterious(0) 1590 | 11 108218084 T C ATM Missense_Mutation I2888T deleterious(0) 1591 | 11 108218088 TC AA ATM Missense_Mutation L2890I "" 1592 | 11 108218089 C G ATM Missense_Mutation L2890V deleterious(0) 1593 | 11 108218090 T C ATM Missense_Mutation L2890P deleterious(0) 1594 | 11 108218090 T G ATM Missense_Mutation L2890R deleterious(0) 1595 | 11 108236086 C T ATM Missense_Mutation R3008C deleterious(0) 1596 | 11 108236087 G A ATM Missense_Mutation R3008H deleterious(0) 1597 | 11 108236087 G T ATM Missense_Mutation R3008L deleterious(0) 1598 | 11 118352585 C T KMT2A Nonsense_Mutation R1264* "" 1599 | 11 119148930 T C CBL Missense_Mutation C384R deleterious(0) 1600 | 11 119148932 T G CBL Missense_Mutation C384W deleterious(0) 1601 | 12 1023068 C T RAD52 Missense_Mutation R396H tolerated(1) 1602 | 12 12022745 C T ETV6 Missense_Mutation S284F tolerated(0.08) 1603 | 12 12037474 C T ETV6 Missense_Mutation R369W deleterious(0) 1604 | 12 12037475 G A ETV6 Missense_Mutation R369Q deleterious(0) 1605 | 12 12037475 G T ETV6 Missense_Mutation R369L deleterious(0) 1606 | 12 12870988 G A CDKN1B Missense_Mutation G72D tolerated(0.05) 1607 | 12 12870988 G C CDKN1B Missense_Mutation G72A tolerated(0.09) 1608 | 12 25378561 G A KRAS Missense_Mutation A146V deleterious(0.02) 1609 | 12 25378562 C G KRAS Missense_Mutation A146P deleterious(0) 1610 | 12 25378562 C T KRAS Missense_Mutation A146T deleterious(0.03) 1611 | 12 25378647 T G KRAS Missense_Mutation K117N deleterious(0.01) 1612 | 12 25378648 T C KRAS Missense_Mutation K117R deleterious(0) 1613 | 12 25380275 T G KRAS Missense_Mutation Q61H deleterious(0) 1614 | 12 25380275 TT AA KRAS Missense_Mutation Q61L deleterious(0) 1615 | 12 25380275 TT CG KRAS Missense_Mutation Q61P deleterious(0) 1616 | 12 25380275 TT GC KRAS Missense_Mutation Q61R tolerated(0.06) 1617 | 12 25380276 T A KRAS Missense_Mutation Q61L deleterious(0) 1618 | 12 25380276 T C KRAS Missense_Mutation Q61R tolerated(0.06) 1619 | 12 25380276 T G KRAS Missense_Mutation Q61P deleterious(0) 1620 | 12 25380276 TG GC KRAS Missense_Mutation Q61A deleterious(0) 1621 | 12 25380277 G C KRAS Missense_Mutation Q61E deleterious(0) 1622 | 12 25380277 G T KRAS Missense_Mutation Q61K deleterious(0.01) 1623 | 12 25380279 C T KRAS Missense_Mutation G60D deleterious(0) 1624 | 12 25380279 CCTG ACTC KRAS Missense_Mutation G60V "" 1625 | 12 25380280 C T KRAS Missense_Mutation G60S deleterious(0) 1626 | 12 25380282 G C KRAS Missense_Mutation A59G deleterious(0.01) 1627 | 12 25380282 G T KRAS Missense_Mutation A59E deleterious(0.02) 1628 | 12 25380283 C T KRAS Missense_Mutation A59T tolerated(0.06) 1629 | 12 25398220 A T KRAS Missense_Mutation D33E tolerated(0.08) 1630 | 12 25398253 C A KRAS Missense_Mutation Q22H deleterious(0) 1631 | 12 25398255 G T KRAS Missense_Mutation Q22K deleterious(0.01) 1632 | 12 25398262 C A KRAS Missense_Mutation L19F deleterious(0.01) 1633 | 12 25398280 GC AA KRAS Missense_Mutation G13V deleterious(0.02) 1634 | 12 25398280 GC TT KRAS Missense_Mutation G13E deleterious(0) 1635 | 12 25398281 C A KRAS Missense_Mutation G13V deleterious(0.02) 1636 | 12 25398281 C G KRAS Missense_Mutation G13A deleterious(0.02) 1637 | 12 25398281 C T KRAS Missense_Mutation G13D deleterious(0.04) 1638 | 12 25398282 C A KRAS Missense_Mutation G13C deleterious(0.02) 1639 | 12 25398282 C G KRAS Missense_Mutation G13R deleterious(0) 1640 | 12 25398284 C A KRAS Missense_Mutation G12V deleterious(0) 1641 | 12 25398284 C G KRAS Missense_Mutation G12A deleterious(0.02) 1642 | 12 25398284 C T KRAS Missense_Mutation G12D deleterious(0) 1643 | 12 25398284 CC AA KRAS Missense_Mutation G12F deleterious(0) 1644 | 12 25398284 CC AG KRAS Missense_Mutation G12L deleterious(0) 1645 | 12 25398284 CC AT KRAS Missense_Mutation G12I deleterious(0) 1646 | 12 25398284 CC GA KRAS Missense_Mutation G12S deleterious(0.03) 1647 | 12 25398285 C A KRAS Missense_Mutation G12C deleterious(0.04) 1648 | 12 25398285 C G KRAS Missense_Mutation G12R deleterious(0.03) 1649 | 12 25398285 C T KRAS Missense_Mutation G12S deleterious(0.03) 1650 | 12 25398288 C T KRAS Missense_Mutation A11T tolerated(0.15) 1651 | 12 25398306 T C KRAS Missense_Mutation K5E deleterious(0.03) 1652 | 12 46230641 C T ARID2 Missense_Mutation S297F deleterious(0) 1653 | 12 46230691 C A ARID2 Missense_Mutation R314S deleterious(0) 1654 | 12 46230691 C T ARID2 Missense_Mutation R314C deleterious(0.01) 1655 | 12 49416416 C T KMT2D Missense_Mutation R5432Q "" 1656 | 12 49416417 G A KMT2D Missense_Mutation R5432W "" 1657 | 12 49420213 C A KMT2D Missense_Mutation R5179L "" 1658 | 12 49420213 C G KMT2D Missense_Mutation R5179P "" 1659 | 12 49420213 C T KMT2D Missense_Mutation R5179H "" 1660 | 12 49420214 G A KMT2D Missense_Mutation R5179C "" 1661 | 12 49433394 G A KMT2D Nonsense_Mutation R2685* "" 1662 | 12 49436599 G A KMT2D Nonsense_Mutation R1903* "" 1663 | 12 49442450 G T KMT2D Missense_Mutation L1375I "" 1664 | 12 50481161 C T SMARCD1 Nonsense_Mutation R183* "" 1665 | 12 50481162 G A SMARCD1 Missense_Mutation R183Q deleterious(0) 1666 | 12 50481162 G T SMARCD1 Missense_Mutation R183L deleterious(0) 1667 | 12 56477631 T A ERBB3 Missense_Mutation M60K deleterious(0) 1668 | 12 56477631 T G ERBB3 Missense_Mutation M60R deleterious(0) 1669 | 12 56478817 G A ERBB3 Missense_Mutation M91I tolerated(0.23) 1670 | 12 56478851 C G ERBB3 Missense_Mutation R103G deleterious(0) 1671 | 12 56478852 G A ERBB3 Missense_Mutation R103H deleterious(0) 1672 | 12 56478853 CG AT ERBB3 Missense_Mutation V104L "" 1673 | 12 56478854 G A ERBB3 Missense_Mutation V104M deleterious(0.05) 1674 | 12 56478854 G C ERBB3 Missense_Mutation V104L deleterious(0.03) 1675 | 12 56478921 A T ERBB3 Missense_Mutation N126I deleterious(0) 1676 | 12 56478922 C A ERBB3 Missense_Mutation N126K tolerated(0.07) 1677 | 12 56481620 T C ERBB3 Missense_Mutation F219L deleterious(0.01) 1678 | 12 56481621 T G ERBB3 Missense_Mutation F219C deleterious(0) 1679 | 12 56481622 T A ERBB3 Missense_Mutation F219L deleterious(0.01) 1680 | 12 56481648 A G ERBB3 Missense_Mutation H228R deleterious(0) 1681 | 12 56481649 T G ERBB3 Missense_Mutation H228Q deleterious(0) 1682 | 12 56481659 G A ERBB3 Missense_Mutation A232T deleterious(0.04) 1683 | 12 56481660 C T ERBB3 Missense_Mutation A232V deleterious(0) 1684 | 12 56481922 G A ERBB3 Missense_Mutation G284R deleterious(0) 1685 | 12 56482341 G A ERBB3 Missense_Mutation D297N deleterious(0) 1686 | 12 56482341 G C ERBB3 Missense_Mutation D297H deleterious(0) 1687 | 12 56482341 G T ERBB3 Missense_Mutation D297Y deleterious(0) 1688 | 12 56482342 A C ERBB3 Missense_Mutation D297A deleterious(0) 1689 | 12 56482342 A T ERBB3 Missense_Mutation D297V deleterious(0) 1690 | 12 56482437 A G ERBB3 Missense_Mutation K329E deleterious(0) 1691 | 12 56482438 A C ERBB3 Missense_Mutation K329T deleterious(0) 1692 | 12 56482438 A G ERBB3 Missense_Mutation K329R deleterious(0) 1693 | 12 56482537 G A ERBB3 Missense_Mutation E332K tolerated(0.15) 1694 | 12 56482537 G C ERBB3 Missense_Mutation E332Q tolerated(0.13) 1695 | 12 56482606 A C ERBB3 Missense_Mutation T355P deleterious(0) 1696 | 12 56482606 A G ERBB3 Missense_Mutation T355A deleterious(0.02) 1697 | 12 56482607 C T ERBB3 Missense_Mutation T355I deleterious(0) 1698 | 12 56487277 C T ERBB3 Missense_Mutation R475W deleterious(0.01) 1699 | 12 56491645 G T ERBB3 Missense_Mutation S846I tolerated(0.32) 1700 | 12 56492632 G A ERBB3 Missense_Mutation E928K deleterious(0) 1701 | 12 56492633 A G ERBB3 Missense_Mutation E928G deleterious(0) 1702 | 12 57861837 C T GLI1 Nonsense_Mutation R380* "" 1703 | 12 57861838 G A GLI1 Missense_Mutation R380Q deleterious(0) 1704 | 12 58145430 C A CDK4 Missense_Mutation R24L deleterious(0) 1705 | 12 58145430 C T CDK4 Missense_Mutation R24H deleterious(0) 1706 | 12 58145431 G A CDK4 Missense_Mutation R24C deleterious(0.02) 1707 | 12 58145431 G T CDK4 Missense_Mutation R24S deleterious(0) 1708 | 12 58145436 T A CDK4 Missense_Mutation K22M deleterious(0) 1709 | 12 58145437 T G CDK4 Missense_Mutation K22Q deleterious(0) 1710 | 12 112888165 G A PTPN11 Missense_Mutation D61N deleterious(0.01) 1711 | 12 112888165 G T PTPN11 Missense_Mutation D61Y deleterious(0) 1712 | 12 112888189 G A PTPN11 Missense_Mutation E69K deleterious(0) 1713 | 12 112888191 G C PTPN11 Missense_Mutation E69D tolerated(0.05) 1714 | 12 112888198 G A PTPN11 Missense_Mutation A72T deleterious(0) 1715 | 12 112888198 G T PTPN11 Missense_Mutation A72S deleterious(0.02) 1716 | 12 112888199 C A PTPN11 Missense_Mutation A72D deleterious(0.05) 1717 | 12 112888199 C G PTPN11 Missense_Mutation A72G deleterious(0.01) 1718 | 12 112888199 C T PTPN11 Missense_Mutation A72V deleterious(0.02) 1719 | 12 112888210 G A PTPN11 Missense_Mutation E76K deleterious(0.01) 1720 | 12 112888210 G C PTPN11 Missense_Mutation E76Q deleterious(0.01) 1721 | 12 112888211 A C PTPN11 Missense_Mutation E76A deleterious(0) 1722 | 12 112888211 A G PTPN11 Missense_Mutation E76G deleterious(0) 1723 | 12 112910844 T G PTPN11 Missense_Mutation F285V deleterious(0.03) 1724 | 12 112915455 T C PTPN11 Missense_Mutation F285S deleterious(0) 1725 | 12 112915523 A G PTPN11 Missense_Mutation N308D deleterious(0.03) 1726 | 12 112915524 A G PTPN11 Missense_Mutation N308S tolerated(0.07) 1727 | 12 112926248 G A PTPN11 Missense_Mutation A461T deleterious(0.01) 1728 | 12 112926249 C G PTPN11 Missense_Mutation A461G deleterious(0) 1729 | 12 112926270 C T PTPN11 Missense_Mutation T468M deleterious(0) 1730 | 12 112926888 G T PTPN11 Missense_Mutation G503V deleterious(0) 1731 | 12 112926900 C A PTPN11 Missense_Mutation T507K deleterious(0) 1732 | 12 112926908 C G PTPN11 Missense_Mutation Q510E deleterious(0) 1733 | 12 112926909 A T PTPN11 Missense_Mutation Q510L deleterious(0) 1734 | 12 112926910 G C PTPN11 Missense_Mutation Q510H deleterious(0) 1735 | 12 115120667 C T TBX3 Nonsense_Mutation W113* "" 1736 | 12 115120668 C T TBX3 Nonsense_Mutation W113* "" 1737 | 12 115120669 A G TBX3 Missense_Mutation W113R deleterious(0) 1738 | 12 121416650 A C HNF1A Missense_Mutation I27L tolerated(0.07) 1739 | 12 121426649 C T HNF1A Missense_Mutation R114C deleterious(0) 1740 | 12 121426650 G A HNF1A Missense_Mutation R114H tolerated(0.25) 1741 | 12 121426650 G T HNF1A Missense_Mutation R114L tolerated(0.07) 1742 | 12 121434122 G C HNF1A Missense_Mutation G338A tolerated(0.13) 1743 | 12 121438871 C A HNF1A Missense_Mutation S591Y deleterious_low_confidence(0) 1744 | 12 133250289 C A POLE Missense_Mutation V411L deleterious(0) 1745 | 12 133253184 G A POLE Missense_Mutation P286L deleterious(0) 1746 | 12 133253184 G C POLE Missense_Mutation P286R deleterious(0) 1747 | 12 133253184 G T POLE Missense_Mutation P286H deleterious(0) 1748 | 12 133253185 G A POLE Missense_Mutation P286S deleterious(0) 1749 | 12 133253185 G T POLE Missense_Mutation P286T deleterious(0) 1750 | 12 133263850 C T POLE Missense_Mutation E18K tolerated(0.69) 1751 | 13 21562482 - GGGGCG LATS2 INS P479_A480dup LoF 1752 | 13 21562483 - GGGGCG LATS2 INS P479_A480dup LoF 1753 | 13 28592640 A C FLT3 Missense_Mutation D835E deleterious(0) 1754 | 13 28592641 T A FLT3 Missense_Mutation D835V deleterious(0) 1755 | 13 28592642 C A FLT3 Missense_Mutation D835Y deleterious(0) 1756 | 13 28592642 C G FLT3 Missense_Mutation D835H deleterious(0) 1757 | 13 28608218 - CAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATT FLT3 INS F594_D600dup LoF 1758 | 13 28608219 - AAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGCCCTG FLT3 INS F594_D600dup LoF 1759 | 13 28608240 - AAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGA FLT3 INS F594_D600dup LoF 1760 | 13 28608242 - ACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTACCCCCTCGGGGGG FLT3 INS F594_D600dup LoF 1761 | 13 28608244 - TCCCATTTGAGATCATAT FLT3 INS F594_D600dup LoF 1762 | 13 28608248 - ATTTGAGATCATATTCAT FLT3 INS F594_D600dup LoF 1763 | 13 28608250 - TTGAGATCATATTCATATTCTCTGAAATCAACG FLT3 INS F594_D600dup LoF 1764 | 13 28608251 - TGAGATCATATTCATATTCTC FLT3 INS F594_D600dup LoF 1765 | 13 28608255 - ATCATATTCATATTCTCTGAA FLT3 INS F594_D600dup LoF 1766 | 13 28608256 - TCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAG FLT3 INS F594_D600dup LoF 1767 | 13 28608258 - TATTCATATTCTCTGAAATCAACG FLT3 INS F594_D600dup LoF 1768 | 13 28608260 - ATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCAG FLT3 INS F594_D600dup LoF 1769 | 13 28608261 - TTCATATTCTCTGAAATCAACGTAGGCCAC FLT3 INS F594_D600dup LoF 1770 | 13 28608262 - TCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTCACCTGTACCATC FLT3 INS F594_D600dup LoF 1771 | 13 28608263 - CATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG FLT3 INS F594_D600dup LoF 1772 | 13 28608267 - TTCTCTGAAATCAACGTAGAAGTACTCATTATC FLT3 INS F594_D600dup LoF 1773 | 13 28608268 - TCTCTGAAATCAACGTAG FLT3 INS F594_D600dup LoF 1774 | 13 28608273 - GAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTACC FLT3 INS F594_D600dup LoF 1775 | 13 28608275 - AATCAACGTAGAAGTACTCATTATCTTCCGGGG FLT3 INS F594_D600dup LoF 1776 | 13 32918761 C T BRCA2 Missense_Mutation S2303F tolerated(0.06) 1777 | 13 41239736 C T FOXO1 Missense_Mutation S205N deleterious(0) 1778 | 13 41239736 CTGT TAGC FOXO1 Missense_Mutation S205Y "" 1779 | 13 41240278 GG CA FOXO1 Missense_Mutation T24M deleterious(0) 1780 | 13 41240279 G A FOXO1 Missense_Mutation T24I deleterious(0) 1781 | 13 41240285 G C FOXO1 Missense_Mutation S22W deleterious(0) 1782 | 13 41240286 A G FOXO1 Missense_Mutation S22P deleterious(0) 1783 | 13 48936983 C T RB1 Nonsense_Mutation R251* "" 1784 | 13 48936984 G A RB1 Missense_Mutation R251Q deleterious(0.05) 1785 | 13 48941648 C T RB1 Nonsense_Mutation R320* "" 1786 | 13 48953730 C T RB1 Nonsense_Mutation R445* "" 1787 | 13 48953760 C T RB1 Nonsense_Mutation R455* "" 1788 | 13 48954198 C T RB1 Nonsense_Mutation R467* "" 1789 | 13 48955538 C T RB1 Nonsense_Mutation R552* "" 1790 | 13 49027167 CC TT RB1 Nonsense_Mutation R579* "" 1791 | 13 49027168 C T RB1 Nonsense_Mutation R579* "" 1792 | 13 49030342 A G RB1 Missense_Mutation Y606C deleterious(0) 1793 | 13 49030343 T A RB1 Nonsense_Mutation Y606* "" 1794 | 13 49039373 TC AT RB1 Nonsense_Mutation R787* "" 1795 | 13 49039374 C T RB1 Nonsense_Mutation R787* "" 1796 | 13 49039375 G A RB1 Missense_Mutation R787Q tolerated(0.27) 1797 | 13 49281339 T A CYSLTR2 Missense_Mutation L129Q deleterious(0) 1798 | 13 73336063 T G DIS3 Missense_Mutation R780S deleterious(0) 1799 | 13 73336064 C G DIS3 Missense_Mutation R780T deleterious(0) 1800 | 13 73336064 C T DIS3 Missense_Mutation R780K deleterious(0) 1801 | 13 73336065 T C DIS3 Missense_Mutation R780G deleterious(0) 1802 | 13 73336102 T A DIS3 Missense_Mutation L767F deleterious(0) 1803 | 13 73337650 C T DIS3 Missense_Mutation R689Q deleterious(0) 1804 | 13 73337651 G C DIS3 Missense_Mutation R689G deleterious(0) 1805 | 13 73346337 T C DIS3 Missense_Mutation D488G deleterious(0) 1806 | 13 73346337 T G DIS3 Missense_Mutation D488A deleterious(0) 1807 | 13 73346338 C A DIS3 Missense_Mutation D488Y deleterious(0) 1808 | 13 73346338 C G DIS3 Missense_Mutation D488H deleterious(0) 1809 | 13 73346338 C T DIS3 Missense_Mutation D488N deleterious(0) 1810 | 13 73346364 T A DIS3 Missense_Mutation D479V deleterious(0) 1811 | 13 73346364 T C DIS3 Missense_Mutation D479G deleterious(0) 1812 | 13 73346365 C A DIS3 Missense_Mutation D479Y deleterious(0) 1813 | 13 73346365 C G DIS3 Missense_Mutation D479H deleterious(0) 1814 | 13 73347916 C T DIS3 Missense_Mutation R382Q deleterious(0.01) 1815 | 13 73347917 G C DIS3 Missense_Mutation R382G deleterious(0) 1816 | 13 110435231 C T IRS2 Missense_Mutation G1057D tolerated(0.61) 1817 | 14 38060763 GAG - FOXA1 DEL F254_N256delinsY LoF 1818 | 14 38060765 GGAGGACATGAGGTTGTTGATGGAGAACGGGTGGTTGAAGGAGTAGTGGGGGTCCCCTTTCAGGTGCAGCTGGGACTCGTGGGGTGCCAAGCCGTGTGCCGGGTGAGAGGCGGGCACAGAGGCCAGCGCCCCGGGCCCGGAGCTTATGGGGGGCGCAGTTGAGGAGGCTGGAGTCTTCAACTCCGAGGCGCCCCCTGTCGCCGTCGCCCCACTGTGGTCCAGAGTCTGGGGGCTGGCGGCGGGCCCGGGGGCCGGCGCGCCCTCTAGCTGGCCGGTCTTCCCGTGCACACCCCGATGGAGGGGCGAGTCGGCGCTGGGGTTAGAGGCGCCAGAGGGGTCCTTGCGGCTCTCAGGGCCGCCCTTGGCGCCGCTGCCCCCGCTTCCGCTCCCGCCCCCGCCGCCGGCCCCCGGCTGCTTCTCGCACTTGAAGCGCTTCTGGCGGCGCAAGTAGCAGCCGTTCTCGAACATGTT - FOXA1 DEL F254_N256delinsY LoF 1819 | 14 38060789 GAACGGGTGGTT - FOXA1 DEL F254_N256delinsY LoF 1820 | 14 38061010 CGGGGGCCGGCGCGCCCTCTAG - FOXA1 DEL F254_N256delinsY LoF 1821 | 14 38061102 TCCTTGCGGCTCTCAGGGCCGCCCTTGGCGCCGCTGCCCCCGCTTCCGCTCCCGCCCCCGCCGCCGGCCCCCGGCTGCTTCTCGCACTTGAAGCGCTTC - FOXA1 DEL F254_N256delinsY LoF 1822 | 14 38061120 CCGCCCTTGGCGCCGCTGCCC - FOXA1 DEL F254_N256delinsY LoF 1823 | 14 38061140 - CCGCTT FOXA1 INS F254_N256delinsY LoF 1824 | 14 38061147 CCGCTCCCGCCCCCGCCGCCGGCCCCCGGCTGCTTCTCGCACTTGAAGCGCTTCTGG - FOXA1 DEL F254_N256delinsY LoF 1825 | 14 38061178 GCTTCTCGCACTTGAAGC - FOXA1 DEL F254_N256delinsY LoF 1826 | 14 38061185 GCACTTGAAGCGCTTCTG - FOXA1 DEL F254_N256delinsY LoF 1827 | 14 38061187 - CTT FOXA1 INS F254_N256delinsY LoF 1828 | 14 38061188 CTTGAAGCGCTT - FOXA1 DEL F254_N256delinsY LoF 1829 | 14 38061191 G T FOXA1 Missense_Mutation F266L deleterious(0) 1830 | 14 38061192 A C FOXA1 Missense_Mutation F266C deleterious(0) 1831 | 14 38061192 A G FOXA1 Missense_Mutation F266S deleterious(0) 1832 | 14 38061193 A C FOXA1 Missense_Mutation F266V deleterious(0) 1833 | 14 38061193 A G FOXA1 Missense_Mutation F266L deleterious(0) 1834 | 14 38061193 A T FOXA1 Missense_Mutation F266I deleterious(0) 1835 | 14 38061196 - CTT FOXA1 INS F254_N256delinsY LoF 1836 | 14 38061200 CTG - FOXA1 DEL F254_N256delinsY LoF 1837 | 14 38061206 GCGCAAGTAGCA - FOXA1 DEL F254_N256delinsY LoF 1838 | 14 38061207 C T FOXA1 Missense_Mutation R261H deleterious(0) 1839 | 14 38061208 G A FOXA1 Missense_Mutation R261C deleterious(0) 1840 | 14 38061208 G C FOXA1 Missense_Mutation R261G deleterious(0) 1841 | 14 38061208 G T FOXA1 Missense_Mutation R261S deleterious(0) 1842 | 14 38061209 C - FOXA1 DEL F254_N256delinsY LoF 1843 | 14 38061211 AGTAGCAGCCGTTCTCGAACATGTTGCCGG - FOXA1 DEL F254_N256delinsY LoF 1844 | 14 38061212 GTAGCAGCCGTTCTCGAACAT - FOXA1 DEL F254_N256delinsY LoF 1845 | 14 38061213 T A FOXA1 Missense_Mutation Y259F deleterious(0) 1846 | 14 38061213 T C FOXA1 Missense_Mutation Y259C deleterious(0) 1847 | 14 38061213 T G FOXA1 Missense_Mutation Y259S deleterious(0) 1848 | 14 38061215 GCAGCCGTTCTCGAACATGTT - FOXA1 DEL F254_N256delinsY LoF 1849 | 14 38061218 GCCGTTCTCGAACATGTTGCC - FOXA1 DEL F254_N256delinsY LoF 1850 | 14 38061220 CGTTCT - FOXA1 DEL F254_N256delinsY LoF 1851 | 14 38061221 GTTCTCGAACAT - FOXA1 DEL F254_N256delinsY LoF 1852 | 14 38061223 TCTCGA - FOXA1 DEL F254_N256delinsY LoF 1853 | 14 38061224 CTCGAA - FOXA1 DEL F254_N256delinsY LoF 1854 | 14 38061225 TCGAACATGTTGCCGGAG - FOXA1 DEL F254_N256delinsY LoF 1855 | 14 38061226 CGAACATGTTGC - FOXA1 DEL F254_N256delinsY LoF 1856 | 14 38061227 GAACATGTTGCCGGA - FOXA1 DEL F254_N256delinsY LoF 1857 | 14 38061231 A C FOXA1 Missense_Mutation M253R deleterious(0) 1858 | 14 38061231 A G FOXA1 Missense_Mutation M253T deleterious(0) 1859 | 14 38061231 A T FOXA1 Missense_Mutation M253K deleterious(0) 1860 | 14 38061233 GTTGCCGGAGTC - FOXA1 DEL F254_N256delinsY LoF 1861 | 14 38061240 G A FOXA1 Missense_Mutation S250F deleterious(0) 1862 | 14 38061240 G T FOXA1 Missense_Mutation S250Y deleterious(0) 1863 | 14 38061248 G C FOXA1 Missense_Mutation H247Q deleterious(0) 1864 | 14 38061249 T A FOXA1 Missense_Mutation H247L deleterious(0) 1865 | 14 38061249 T C FOXA1 Missense_Mutation H247R deleterious(0) 1866 | 14 38061250 G A FOXA1 Missense_Mutation H247Y deleterious(0) 1867 | 14 38061264 G A FOXA1 Missense_Mutation S242F deleterious(0) 1868 | 14 38061264 G T FOXA1 Missense_Mutation S242Y deleterious(0) 1869 | 14 38061312 T C FOXA1 Missense_Mutation D226G deleterious(0) 1870 | 14 38061313 C T FOXA1 Missense_Mutation D226N deleterious(0) 1871 | 14 38061334 G A FOXA1 Missense_Mutation R219C deleterious(0) 1872 | 14 38061334 G C FOXA1 Missense_Mutation R219G deleterious(0) 1873 | 14 38061334 G T FOXA1 Missense_Mutation R219S deleterious(0) 1874 | 14 38061461 G C FOXA1 Missense_Mutation I176M deleterious(0) 1875 | 14 38061463 T C FOXA1 Missense_Mutation I176V deleterious(0) 1876 | 14 65544747 C T MAX Missense_Mutation R60Q deleterious(0) 1877 | 14 65544748 G A MAX Missense_Mutation R60W deleterious(0) 1878 | 14 65560491 T A MAX Missense_Mutation R36W deleterious(0) 1879 | 14 65560514 T C MAX Missense_Mutation H28R deleterious(0.03) 1880 | 14 95557629 T C DICER1 Missense_Mutation E1813G deleterious(0) 1881 | 14 95557629 T G DICER1 Missense_Mutation E1813A deleterious(0) 1882 | 14 95557630 C G DICER1 Missense_Mutation E1813Q deleterious(0) 1883 | 14 95557630 C T DICER1 Missense_Mutation E1813K deleterious(0) 1884 | 14 95557638 T A DICER1 Missense_Mutation D1810V deleterious(0) 1885 | 14 95557638 T G DICER1 Missense_Mutation D1810A deleterious(0) 1886 | 14 95557639 C A DICER1 Missense_Mutation D1810Y deleterious(0) 1887 | 14 95557639 C G DICER1 Missense_Mutation D1810H deleterious(0) 1888 | 14 95557639 C T DICER1 Missense_Mutation D1810N deleterious(0) 1889 | 14 95560464 C T DICER1 Missense_Mutation D1709N deleterious(0) 1890 | 14 95569702 G A DICER1 Missense_Mutation S1344L deleterious(0) 1891 | 14 95569702 GA AT DICER1 Missense_Mutation S1344I deleterious(0) 1892 | 14 105239419 T C AKT1 Missense_Mutation D323G tolerated(0.1) 1893 | 14 105239420 C A AKT1 Missense_Mutation D323Y deleterious(0) 1894 | 14 105239420 C T AKT1 Missense_Mutation D323N deleterious(0.03) 1895 | 14 105243048 G T AKT1 Missense_Mutation Q79K deleterious(0.02) 1896 | 14 105243050 - GGCAGCGGATGATGAAGGTGTTGGGCCGGG AKT1 INS P68_C77dup LoF 1897 | 14 105243057 - GATGATGAAGGTGTTGGGCCGGGGCCGCTCCGT AKT1 INS P68_C77dup LoF 1898 | 14 105246445 A C AKT1 Missense_Mutation L52R deleterious(0) 1899 | 14 105246445 A T AKT1 Missense_Mutation L52H deleterious(0) 1900 | 14 105246551 C A AKT1 Nonsense_Mutation E17* "" 1901 | 14 105246551 C T AKT1 Missense_Mutation E17K deleterious(0) 1902 | 15 38643575 A T SPRED1 Missense_Mutation R349W deleterious(0) 1903 | 15 38643577 G T SPRED1 Missense_Mutation R349S deleterious(0) 1904 | 15 40675071 T G KNSTRN Missense_Mutation V12G tolerated_low_confidence(0.17) 1905 | 15 40675100 T A KNSTRN Missense_Mutation C22S tolerated_low_confidence(0.72) 1906 | 15 40675101 G A KNSTRN Missense_Mutation C22Y tolerated_low_confidence(1) 1907 | 15 40675107 C T KNSTRN Missense_Mutation S24F deleterious_low_confidence(0.01) 1908 | 15 40675118 C T KNSTRN Missense_Mutation P28S tolerated_low_confidence(0.09) 1909 | 15 40675118 CC TT KNSTRN Missense_Mutation P28L deleterious_low_confidence(0.03) 1910 | 15 40675119 C T KNSTRN Missense_Mutation P28L deleterious_low_confidence(0.03) 1911 | 15 42021428 C T MGA Nonsense_Mutation R1242* "" 1912 | 15 45003764 T C B2M Missense_Mutation L7S deleterious(0.01) 1913 | 15 45003764 T G B2M Nonsense_Mutation L7* "" 1914 | 15 45003779 T A B2M Missense_Mutation L12Q tolerated(0.09) 1915 | 15 45003779 T C B2M Missense_Mutation L12P deleterious(0) 1916 | 15 66727441 T A MAP2K1 Missense_Mutation F53I deleterious(0) 1917 | 15 66727441 T C MAP2K1 Missense_Mutation F53L deleterious(0.03) 1918 | 15 66727441 T G MAP2K1 Missense_Mutation F53V deleterious(0.01) 1919 | 15 66727442 T G MAP2K1 Missense_Mutation F53C deleterious(0) 1920 | 15 66727443 T G MAP2K1 Missense_Mutation F53L deleterious(0.03) 1921 | 15 66727451 A C MAP2K1 Missense_Mutation Q56P deleterious(0.03) 1922 | 15 66727453 A G MAP2K1 Missense_Mutation K57E deleterious(0.02) 1923 | 15 66727454 A C MAP2K1 Missense_Mutation K57T deleterious(0) 1924 | 15 66727455 G C MAP2K1 Missense_Mutation K57N deleterious(0) 1925 | 15 66729086 AATTCATCTGGAGATCAA - MAP2K1 DEL E102_I103del LoF 1926 | 15 66729094 TGGAGA - MAP2K1 DEL E102_I103del LoF 1927 | 15 66729099 ATCAAA - MAP2K1 DEL E102_I103del LoF 1928 | 15 66729104 ACCCGC - MAP2K1 DEL E102_I103del LoF 1929 | 15 66729106 CCGCAA - MAP2K1 DEL E102_I103del LoF 1930 | 15 66729153 T A MAP2K1 Missense_Mutation C121S deleterious(0) 1931 | 15 66729154 G C MAP2K1 Missense_Mutation C121S deleterious(0) 1932 | 15 66729156 A G MAP2K1 Missense_Mutation N122D deleterious(0.04) 1933 | 15 66729162 C T MAP2K1 Missense_Mutation P124S tolerated(0.08) 1934 | 15 66729162 CC AT MAP2K1 Missense_Mutation P124M deleterious(0) 1935 | 15 66729163 C A MAP2K1 Missense_Mutation P124Q deleterious(0.03) 1936 | 15 66729163 C G MAP2K1 Missense_Mutation P124R deleterious(0.04) 1937 | 15 66729163 C T MAP2K1 Missense_Mutation P124L deleterious(0) 1938 | 15 66729174 G C MAP2K1 Missense_Mutation G128R deleterious(0) 1939 | 15 66729175 G A MAP2K1 Missense_Mutation G128D deleterious(0) 1940 | 15 66729175 G T MAP2K1 Missense_Mutation G128V deleterious(0) 1941 | 15 66729180 T A MAP2K1 Missense_Mutation Y130N deleterious(0) 1942 | 15 66729180 T C MAP2K1 Missense_Mutation Y130H deleterious(0.02) 1943 | 15 66729181 A G MAP2K1 Missense_Mutation Y130C deleterious(0) 1944 | 15 66774131 G A MAP2K1 Missense_Mutation E203K deleterious(0) 1945 | 15 66774132 A T MAP2K1 Missense_Mutation E203V deleterious(0) 1946 | 15 67473722 C T SMAD3 Missense_Mutation R268C deleterious(0.01) 1947 | 15 67473723 G A SMAD3 Missense_Mutation R268H deleterious(0.03) 1948 | 15 67473779 C T SMAD3 Missense_Mutation R287W deleterious(0) 1949 | 15 67473780 G A SMAD3 Missense_Mutation R287Q deleterious(0.01) 1950 | 15 90631837 C A IDH2 Missense_Mutation R172S deleterious_low_confidence(0) 1951 | 15 90631838 C A IDH2 Missense_Mutation R172M deleterious_low_confidence(0) 1952 | 15 90631838 C G IDH2 Missense_Mutation R172T deleterious_low_confidence(0) 1953 | 15 90631838 C T IDH2 Missense_Mutation R172K deleterious_low_confidence(0) 1954 | 15 90631839 T A IDH2 Missense_Mutation R172W deleterious_low_confidence(0) 1955 | 15 90631839 T C IDH2 Missense_Mutation R172G deleterious_low_confidence(0) 1956 | 15 90631934 C A IDH2 Missense_Mutation R140L deleterious_low_confidence(0) 1957 | 15 90631934 C T IDH2 Missense_Mutation R140Q deleterious_low_confidence(0) 1958 | 15 90631935 G A IDH2 Missense_Mutation R140W deleterious_low_confidence(0) 1959 | 15 99251081 G A IGF1R Missense_Mutation G129R deleterious(0) 1960 | 15 99251082 G C IGF1R Missense_Mutation G129A deleterious(0.01) 1961 | 16 2222281 C T TRAF7 Missense_Mutation R189W deleterious(0) 1962 | 16 2222282 G C TRAF7 Missense_Mutation R189P tolerated(0.08) 1963 | 16 2222282 GG TT TRAF7 Missense_Mutation R189L deleterious(0.05) 1964 | 16 2225555 A T TRAF7 Missense_Mutation N520Y deleterious(0) 1965 | 16 2225556 A G TRAF7 Missense_Mutation N520S tolerated(0.09) 1966 | 16 2647217 C T PDPK1 Missense_Mutation P499S deleterious(0) 1967 | 16 2647218 C T PDPK1 Missense_Mutation P499L deleterious(0) 1968 | 16 3781324 AGG - CREBBP DEL S1680del LoF 1969 | 16 3786703 T C CREBBP Missense_Mutation Y1503C "" 1970 | 16 3786703 T G CREBBP Missense_Mutation Y1503S "" 1971 | 16 3786704 A C CREBBP Missense_Mutation Y1503D "" 1972 | 16 3786704 A G CREBBP Missense_Mutation Y1503H "" 1973 | 16 3786704 A T CREBBP Missense_Mutation Y1503N "" 1974 | 16 3786705 C A CREBBP Missense_Mutation W1502C "" 1975 | 16 3786706 C A CREBBP Missense_Mutation W1502L "" 1976 | 16 3786706 C T CREBBP Nonsense_Mutation W1502* "" 1977 | 16 3786707 A T CREBBP Missense_Mutation W1502R "" 1978 | 16 3786715 A C CREBBP Missense_Mutation L1499R "" 1979 | 16 3786715 A G CREBBP Missense_Mutation L1499P "" 1980 | 16 3786715 A T CREBBP Missense_Mutation L1499Q "" 1981 | 16 3786766 T C CREBBP Missense_Mutation Y1482C "" 1982 | 16 3786767 A C CREBBP Missense_Mutation Y1482D "" 1983 | 16 3786767 A G CREBBP Missense_Mutation Y1482H "" 1984 | 16 3786767 A T CREBBP Missense_Mutation Y1482N "" 1985 | 16 3786795 C A CREBBP Missense_Mutation W1472C "" 1986 | 16 3786796 C G CREBBP Missense_Mutation W1472S "" 1987 | 16 3786797 A C CREBBP Missense_Mutation W1472G "" 1988 | 16 3786797 A G CREBBP Missense_Mutation W1472R "" 1989 | 16 3788605 T C CREBBP Missense_Mutation Y1450C "" 1990 | 16 3788606 A C CREBBP Missense_Mutation Y1450D "" 1991 | 16 3788606 A T CREBBP Missense_Mutation Y1450N "" 1992 | 16 3788617 C A CREBBP Missense_Mutation R1446L "" 1993 | 16 3788617 C G CREBBP Missense_Mutation R1446P "" 1994 | 16 3788617 C T CREBBP Missense_Mutation R1446H "" 1995 | 16 3788618 G A CREBBP Missense_Mutation R1446C "" 1996 | 16 3788618 G C CREBBP Missense_Mutation R1446G "" 1997 | 16 3788618 G T CREBBP Missense_Mutation R1446S "" 1998 | 16 3788650 T C CREBBP Missense_Mutation D1435G "" 1999 | 16 3788651 C A CREBBP Missense_Mutation D1435Y "" 2000 | 16 3788651 C G CREBBP Missense_Mutation D1435H "" 2001 | 16 3788651 C T CREBBP Missense_Mutation D1435N "" 2002 | 16 3788662 A C CREBBP Missense_Mutation I1431S "" 2003 | 16 3788662 A T CREBBP Missense_Mutation I1431N "" 2004 | 16 3788663 T C CREBBP Missense_Mutation I1431V "" 2005 | 16 11349328 G T SOCS1 Missense_Mutation A3E deleterious(0) 2006 | 16 11349328 GC CT SOCS1 Missense_Mutation A3R deleterious(0) 2007 | 16 11349329 C G SOCS1 Missense_Mutation A3P deleterious(0) 2008 | 16 11349329 C T SOCS1 Missense_Mutation A3T deleterious(0) 2009 | 16 56782199 G A NUP93 Missense_Mutation E14K deleterious(0.05) 2010 | 16 56782202 C A NUP93 Missense_Mutation Q15K tolerated(0.17) 2011 | 16 56782202 C T NUP93 Nonsense_Mutation Q15* "" 2012 | 16 67070594 G A CBFB Nonsense_Mutation W73* "" 2013 | 16 67070595 G A CBFB Nonsense_Mutation W73* "" 2014 | 16 67645412 A G CTCF Missense_Mutation Y226C deleterious(0.03) 2015 | 16 67645922 C A CTCF Missense_Mutation H284N deleterious(0) 2016 | 16 67645922 C T CTCF Missense_Mutation H284Y deleterious(0) 2017 | 16 67645923 A C CTCF Missense_Mutation H284P deleterious(0) 2018 | 16 67645934 C G CTCF Missense_Mutation H288D deleterious(0) 2019 | 16 67645934 C T CTCF Missense_Mutation H288Y deleterious(0) 2020 | 16 67645935 A G CTCF Missense_Mutation H288R deleterious(0) 2021 | 16 67650756 C A CTCF Missense_Mutation S354Y deleterious(0) 2022 | 16 67650756 C T CTCF Missense_Mutation S354F deleterious(0) 2023 | 16 67654642 C T CTCF Missense_Mutation R377C deleterious(0) 2024 | 16 67654643 G A CTCF Missense_Mutation R377H deleterious(0) 2025 | 16 67655479 C T CTCF Nonsense_Mutation R448* "" 2026 | 16 68772218 C T CDH1 Nonsense_Mutation Q23* "" 2027 | 16 68835596 C G CDH1 Missense_Mutation R63G tolerated(0.1) 2028 | 16 68835596 C T CDH1 Nonsense_Mutation R63* "" 2029 | 16 68835597 G C CDH1 Missense_Mutation R63P tolerated(0.15) 2030 | 16 68842633 A G CDH1 Missense_Mutation Y190C deleterious(0) 2031 | 16 68844172 G A CDH1 Missense_Mutation D254N deleterious(0) 2032 | 16 68844172 G T CDH1 Missense_Mutation D254Y deleterious(0) 2033 | 16 68844174 T A CDH1 Missense_Mutation D254E deleterious(0) 2034 | 16 68845616 G A CDH1 Missense_Mutation D288N deleterious(0) 2035 | 16 68845617 A T CDH1 Missense_Mutation D288V deleterious(0) 2036 | 16 68845757 C T CDH1 Nonsense_Mutation R335* "" 2037 | 16 68845758 G A CDH1 Missense_Mutation R335Q deleterious(0) 2038 | 16 89348566 TCTT - ANKRD11 DEL K1461del LoF 2039 | 16 89349903 TCGGGGCCATCCTTCTTCTCCTTC - ANKRD11 DEL K1012del LoF 2040 | 16 89349914 CTT - ANKRD11 DEL K1012del LoF 2041 | 16 89351844 T C ANKRD11 Missense_Mutation K369R "" 2042 | 17 7574002 C G TP53 Missense_Mutation R342P deleterious(0.01) 2043 | 17 7574003 G A TP53 Nonsense_Mutation R342* "" 2044 | 17 7574017 C A TP53 Missense_Mutation R337L deleterious(0.01) 2045 | 17 7574017 C G TP53 Missense_Mutation R337P deleterious(0.01) 2046 | 17 7574017 C T TP53 Missense_Mutation R337H tolerated(0.09) 2047 | 17 7574018 G A TP53 Missense_Mutation R337C tolerated(0.09) 2048 | 17 7574018 G C TP53 Missense_Mutation R337G deleterious(0.01) 2049 | 17 7574018 G T TP53 Missense_Mutation R337S deleterious(0.01) 2050 | 17 7576853 C A TP53 Missense_Mutation Q331H tolerated(0.13) 2051 | 17 7576855 G A TP53 Nonsense_Mutation Q331* "" 2052 | 17 7576897 G A TP53 Nonsense_Mutation Q317* "" 2053 | 17 7577021 C T TP53 Missense_Mutation R306Q tolerated(0.06) 2054 | 17 7577022 G A TP53 Nonsense_Mutation R306* "" 2055 | 17 7577046 C A TP53 Nonsense_Mutation E298* "" 2056 | 17 7577046 C G TP53 Missense_Mutation E298Q tolerated(0.17) 2057 | 17 7577058 C A TP53 Nonsense_Mutation E294* "" 2058 | 17 7577061 CTTTCTTGCGGAGATTCTCTTCCT - TP53 DEL I255del LoF 2059 | 17 7577077 CTCTTC - TP53 DEL I255del LoF 2060 | 17 7577081 T A TP53 Missense_Mutation E286V deleterious(0) 2061 | 17 7577081 T C TP53 Missense_Mutation E286G deleterious(0) 2062 | 17 7577081 T G TP53 Missense_Mutation E286A deleterious(0) 2063 | 17 7577082 C A TP53 Nonsense_Mutation E286* "" 2064 | 17 7577082 C G TP53 Missense_Mutation E286Q deleterious(0) 2065 | 17 7577082 C T TP53 Missense_Mutation E286K deleterious(0) 2066 | 17 7577082 CCTCTGTGCGCCGGTCTCTCCCAGGACAGG - TP53 DEL I255del LoF 2067 | 17 7577083 CTC TTT TP53 Missense_Mutation E285K deleterious(0) 2068 | 17 7577084 T A TP53 Missense_Mutation E285V deleterious(0) 2069 | 17 7577085 C A TP53 Nonsense_Mutation E285* "" 2070 | 17 7577085 C G TP53 Missense_Mutation E285Q deleterious(0.03) 2071 | 17 7577085 C T TP53 Missense_Mutation E285K deleterious(0) 2072 | 17 7577089 GC - TP53 DEL I255del LoF 2073 | 17 7577093 C A TP53 Missense_Mutation R282L deleterious(0) 2074 | 17 7577093 C G TP53 Missense_Mutation R282P deleterious(0) 2075 | 17 7577093 C T TP53 Missense_Mutation R282Q deleterious(0) 2076 | 17 7577093 CG - TP53 DEL I255del LoF 2077 | 17 7577094 G A TP53 Missense_Mutation R282W deleterious(0) 2078 | 17 7577094 G C TP53 Missense_Mutation R282G deleterious(0.03) 2079 | 17 7577095 G T TP53 Missense_Mutation D281E deleterious(0.01) 2080 | 17 7577096 T A TP53 Missense_Mutation D281V deleterious(0) 2081 | 17 7577096 T C TP53 Missense_Mutation D281G deleterious(0.01) 2082 | 17 7577096 T G TP53 Missense_Mutation D281A deleterious(0) 2083 | 17 7577096 TC GG TP53 Missense_Mutation D281P deleterious(0) 2084 | 17 7577097 C A TP53 Missense_Mutation D281Y deleterious(0) 2085 | 17 7577097 C G TP53 Missense_Mutation D281H tolerated(0.07) 2086 | 17 7577097 C T TP53 Missense_Mutation D281N deleterious(0.01) 2087 | 17 7577098 T G TP53 Missense_Mutation R280S deleterious(0.03) 2088 | 17 7577099 C A TP53 Missense_Mutation R280I deleterious(0) 2089 | 17 7577099 C G TP53 Missense_Mutation R280T deleterious(0) 2090 | 17 7577099 C T TP53 Missense_Mutation R280K deleterious(0.04) 2091 | 17 7577100 T A TP53 Nonsense_Mutation R280* "" 2092 | 17 7577100 T C TP53 Missense_Mutation R280G deleterious(0) 2093 | 17 7577102 CCAGGACAGGCACAAACA - TP53 DEL I255del LoF 2094 | 17 7577105 G A TP53 Missense_Mutation P278L deleterious(0) 2095 | 17 7577105 G C TP53 Missense_Mutation P278R deleterious(0) 2096 | 17 7577105 G T TP53 Missense_Mutation P278H deleterious(0) 2097 | 17 7577105 GG AA TP53 Missense_Mutation P278F deleterious(0) 2098 | 17 7577106 - ACAGGC TP53 INS I255del LoF 2099 | 17 7577106 G A TP53 Missense_Mutation P278S deleterious(0.03) 2100 | 17 7577106 G C TP53 Missense_Mutation P278A deleterious(0.01) 2101 | 17 7577106 G T TP53 Missense_Mutation P278T deleterious(0) 2102 | 17 7577107 - CAG TP53 INS I255del LoF 2103 | 17 7577107 A C TP53 Missense_Mutation C277W deleterious(0.03) 2104 | 17 7577107 A T TP53 Nonsense_Mutation C277* "" 2105 | 17 7577108 C A TP53 Missense_Mutation C277F deleterious(0) 2106 | 17 7577108 C T TP53 Missense_Mutation C277Y deleterious(0) 2107 | 17 7577109 A C TP53 Missense_Mutation C277G deleterious(0.04) 2108 | 17 7577111 - CACAAA TP53 INS I255del LoF 2109 | 17 7577113 A C TP53 Missense_Mutation C275W deleterious(0) 2110 | 17 7577113 A T TP53 Nonsense_Mutation C275* "" 2111 | 17 7577114 C A TP53 Missense_Mutation C275F deleterious(0) 2112 | 17 7577114 C G TP53 Missense_Mutation C275S deleterious(0) 2113 | 17 7577114 C T TP53 Missense_Mutation C275Y deleterious(0) 2114 | 17 7577115 - AAC TP53 INS I255del LoF 2115 | 17 7577115 A C TP53 Missense_Mutation C275G deleterious(0) 2116 | 17 7577115 A G TP53 Missense_Mutation C275R deleterious(0) 2117 | 17 7577117 A C TP53 Missense_Mutation V274G deleterious(0) 2118 | 17 7577117 A G TP53 Missense_Mutation V274A deleterious(0) 2119 | 17 7577117 A T TP53 Missense_Mutation V274D deleterious(0) 2120 | 17 7577118 C A TP53 Missense_Mutation V274F deleterious(0.03) 2121 | 17 7577118 C G TP53 Missense_Mutation V274L deleterious(0.04) 2122 | 17 7577120 - GCA TP53 INS I255del LoF 2123 | 17 7577120 C A TP53 Missense_Mutation R273L deleterious(0) 2124 | 17 7577120 C G TP53 Missense_Mutation R273P deleterious(0) 2125 | 17 7577120 C T TP53 Missense_Mutation R273H tolerated(0.13) 2126 | 17 7577121 G A TP53 Missense_Mutation R273C deleterious(0) 2127 | 17 7577121 G C TP53 Missense_Mutation R273G deleterious(0) 2128 | 17 7577121 G T TP53 Missense_Mutation R273S deleterious(0) 2129 | 17 7577123 A C TP53 Missense_Mutation V272G deleterious(0) 2130 | 17 7577123 A G TP53 Missense_Mutation V272A deleterious(0.01) 2131 | 17 7577123 A T TP53 Missense_Mutation V272E deleterious(0) 2132 | 17 7577123 AC TT TP53 Missense_Mutation V272K deleterious(0) 2133 | 17 7577124 C A TP53 Missense_Mutation V272L deleterious(0) 2134 | 17 7577124 C T TP53 Missense_Mutation V272M deleterious(0) 2135 | 17 7577125 CTCAAAG - TP53 DEL I255del LoF 2136 | 17 7577126 T A TP53 Missense_Mutation E271V deleterious(0) 2137 | 17 7577127 - A TP53 INS I255del LoF 2138 | 17 7577127 C A TP53 Nonsense_Mutation E271* "" 2139 | 17 7577127 C G TP53 Missense_Mutation E271Q deleterious(0) 2140 | 17 7577127 C T TP53 Missense_Mutation E271K deleterious(0) 2141 | 17 7577128 A C TP53 Missense_Mutation F270L deleterious(0) 2142 | 17 7577129 A C TP53 Missense_Mutation F270C deleterious(0) 2143 | 17 7577129 A G TP53 Missense_Mutation F270S deleterious(0) 2144 | 17 7577129 AAG - TP53 DEL I255del LoF 2145 | 17 7577130 A C TP53 Missense_Mutation F270V deleterious(0) 2146 | 17 7577130 A G TP53 Missense_Mutation F270L deleterious(0) 2147 | 17 7577130 A T TP53 Missense_Mutation F270I deleterious(0) 2148 | 17 7577133 TGTTCCGTCCCAGTAGAT - TP53 DEL I255del LoF 2149 | 17 7577135 TTCCGTCCCAGTAGA - TP53 DEL I255del LoF 2150 | 17 7577137 CC AA TP53 Missense_Mutation R267L deleterious(0) 2151 | 17 7577138 C A TP53 Missense_Mutation R267L deleterious(0) 2152 | 17 7577138 C G TP53 Missense_Mutation R267P deleterious(0) 2153 | 17 7577138 C T TP53 Missense_Mutation R267Q deleterious(0.01) 2154 | 17 7577139 G A TP53 Missense_Mutation R267W tolerated(0.05) 2155 | 17 7577139 G C TP53 Missense_Mutation R267G deleterious(0) 2156 | 17 7577141 C A TP53 Missense_Mutation G266V deleterious(0) 2157 | 17 7577141 C T TP53 Missense_Mutation G266E deleterious(0) 2158 | 17 7577141 CC GT TP53 Missense_Mutation G266T deleterious(0) 2159 | 17 7577141 CC TT TP53 Missense_Mutation G266K deleterious(0.01) 2160 | 17 7577142 C A TP53 Nonsense_Mutation G266* "" 2161 | 17 7577142 C T TP53 Missense_Mutation G266R deleterious(0.03) 2162 | 17 7577144 A C TP53 Missense_Mutation L265R deleterious(0) 2163 | 17 7577144 A G TP53 Missense_Mutation L265P deleterious(0) 2164 | 17 7577144 AGT - TP53 DEL I255del LoF 2165 | 17 7577145 G T TP53 Missense_Mutation L265M deleterious(0) 2166 | 17 7577146 - A TP53 INS I255del LoF 2167 | 17 7577152 A - TP53 DEL I255del LoF 2168 | 17 7577153 C A TP53 Missense_Mutation G262V deleterious(0) 2169 | 17 7577500 TGGAGTCTTCCAGTG - TP53 DEL I255del LoF 2170 | 17 7577505 T A TP53 Missense_Mutation D259V deleterious(0.01) 2171 | 17 7577506 C A TP53 Missense_Mutation D259Y deleterious(0.02) 2172 | 17 7577506 C T TP53 Missense_Mutation D259N tolerated(0.25) 2173 | 17 7577506 CT GA TP53 Missense_Mutation D259H "" 2174 | 17 7577507 T A TP53 Missense_Mutation E258D deleterious(0) 2175 | 17 7577508 T A TP53 Missense_Mutation E258V deleterious(0) 2176 | 17 7577508 T C TP53 Missense_Mutation E258G deleterious(0) 2177 | 17 7577508 T G TP53 Missense_Mutation E258A deleterious(0) 2178 | 17 7577509 C A TP53 Nonsense_Mutation E258* "" 2179 | 17 7577509 C G TP53 Missense_Mutation E258Q deleterious(0) 2180 | 17 7577509 C T TP53 Missense_Mutation E258K deleterious(0) 2181 | 17 7577511 A C TP53 Missense_Mutation L257R deleterious(0) 2182 | 17 7577511 A G TP53 Missense_Mutation L257P deleterious(0) 2183 | 17 7577511 A T TP53 Missense_Mutation L257Q deleterious(0) 2184 | 17 7577511 AGTGTGATGATGGTG - TP53 DEL I255del LoF 2185 | 17 7577512 G C TP53 Missense_Mutation L257V deleterious(0) 2186 | 17 7577514 - TGA TP53 INS I255del LoF 2187 | 17 7577515 TGA - TP53 DEL I255del LoF 2188 | 17 7577516 GA AG TP53 Missense_Mutation I255T deleterious(0) 2189 | 17 7577517 A C TP53 Missense_Mutation I255S deleterious(0) 2190 | 17 7577517 A G TP53 Missense_Mutation I255T deleterious(0) 2191 | 17 7577517 A T TP53 Missense_Mutation I255N deleterious(0) 2192 | 17 7577518 T A TP53 Missense_Mutation I255F deleterious(0) 2193 | 17 7577519 G C TP53 Missense_Mutation I254M deleterious(0) 2194 | 17 7577519 GATGGTGAG - TP53 DEL I255del LoF 2195 | 17 7577520 - TGG TP53 INS I255del LoF 2196 | 17 7577520 A C TP53 Missense_Mutation I254S deleterious(0) 2197 | 17 7577520 A T TP53 Missense_Mutation I254N deleterious(0) 2198 | 17 7577521 T A TP53 Missense_Mutation I254F deleterious(0) 2199 | 17 7577521 T C TP53 Missense_Mutation I254V deleterious(0) 2200 | 17 7577521 T G TP53 Missense_Mutation I254L deleterious(0.03) 2201 | 17 7577524 - GAG TP53 INS I255del LoF 2202 | 17 7577525 GAGGATGGG - TP53 DEL I255del LoF 2203 | 17 7577528 G C TP53 Missense_Mutation I251M deleterious(0) 2204 | 17 7577528 GA AT TP53 Missense_Mutation I251N deleterious(0.03) 2205 | 17 7577529 A C TP53 Missense_Mutation I251S deleterious(0) 2206 | 17 7577529 A T TP53 Missense_Mutation I251N deleterious(0.03) 2207 | 17 7577530 T A TP53 Missense_Mutation I251F deleterious(0) 2208 | 17 7577530 TGG - TP53 DEL I255del LoF 2209 | 17 7577531 GG AA TP53 Missense_Mutation P250L deleterious(0) 2210 | 17 7577532 G A TP53 Missense_Mutation P250L deleterious(0) 2211 | 17 7577532 G C TP53 Missense_Mutation P250R deleterious(0) 2212 | 17 7577533 GCCTCCGGTTCATGC - TP53 DEL I255del LoF 2213 | 17 7577534 C A TP53 Missense_Mutation R249S deleterious(0) 2214 | 17 7577534 CC AA TP53 Missense_Mutation R249I deleterious(0) 2215 | 17 7577534 CCT ACC TP53 Missense_Mutation R249G deleterious(0) 2216 | 17 7577535 C A TP53 Missense_Mutation R249M deleterious(0) 2217 | 17 7577535 C G TP53 Missense_Mutation R249T deleterious(0) 2218 | 17 7577535 C T TP53 Missense_Mutation R249K deleterious(0.04) 2219 | 17 7577536 T A TP53 Missense_Mutation R249W deleterious(0.02) 2220 | 17 7577536 T C TP53 Missense_Mutation R249G deleterious(0) 2221 | 17 7577537 CC TT TP53 Missense_Mutation R248Q deleterious(0) 2222 | 17 7577538 C A TP53 Missense_Mutation R248L deleterious(0) 2223 | 17 7577538 C G TP53 Missense_Mutation R248P deleterious(0) 2224 | 17 7577538 C T TP53 Missense_Mutation R248Q deleterious(0) 2225 | 17 7577539 G A TP53 Missense_Mutation R248W deleterious(0) 2226 | 17 7577539 G C TP53 Missense_Mutation R248G deleterious(0.03) 2227 | 17 7577540 GT TA TP53 Missense_Mutation N247I deleterious(0) 2228 | 17 7577541 T A TP53 Missense_Mutation N247I deleterious(0) 2229 | 17 7577543 C G TP53 Missense_Mutation M246I deleterious(0) 2230 | 17 7577544 A C TP53 Missense_Mutation M246R deleterious(0) 2231 | 17 7577544 A G TP53 Missense_Mutation M246T deleterious(0) 2232 | 17 7577544 A T TP53 Missense_Mutation M246K deleterious(0) 2233 | 17 7577545 T - TP53 DEL I255del LoF 2234 | 17 7577545 T C TP53 Missense_Mutation M246V deleterious(0) 2235 | 17 7577545 T G TP53 Missense_Mutation M246L deleterious(0) 2236 | 17 7577547 C A TP53 Missense_Mutation G245V deleterious(0) 2237 | 17 7577547 C G TP53 Missense_Mutation G245A deleterious(0) 2238 | 17 7577547 C T TP53 Missense_Mutation G245D deleterious(0) 2239 | 17 7577547 CC TT TP53 Missense_Mutation G245N deleterious(0) 2240 | 17 7577548 C A TP53 Missense_Mutation G245C deleterious(0) 2241 | 17 7577548 C G TP53 Missense_Mutation G245R deleterious(0) 2242 | 17 7577548 C T TP53 Missense_Mutation G245S deleterious(0) 2243 | 17 7577550 C A TP53 Missense_Mutation G244V deleterious(0) 2244 | 17 7577550 C G TP53 Missense_Mutation G244A deleterious(0) 2245 | 17 7577550 C T TP53 Missense_Mutation G244D deleterious(0) 2246 | 17 7577550 CC AA TP53 Missense_Mutation G244F deleterious(0) 2247 | 17 7577551 C A TP53 Missense_Mutation G244C deleterious(0) 2248 | 17 7577551 C G TP53 Missense_Mutation G244R deleterious(0) 2249 | 17 7577551 C T TP53 Missense_Mutation G244S deleterious(0) 2250 | 17 7577552 CATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAA - TP53 DEL I255del LoF 2251 | 17 7577554 TGCAGGAAC - TP53 DEL I255del LoF 2252 | 17 7577555 G C TP53 Missense_Mutation C242W deleterious(0) 2253 | 17 7577555 G T TP53 Nonsense_Mutation C242* "" 2254 | 17 7577555 GC CG TP53 Missense_Mutation C242S deleterious(0) 2255 | 17 7577556 - AGG TP53 INS I255del LoF 2256 | 17 7577556 C A TP53 Missense_Mutation C242F deleterious(0) 2257 | 17 7577556 C G TP53 Missense_Mutation C242S deleterious(0) 2258 | 17 7577556 C T TP53 Missense_Mutation C242Y deleterious(0) 2259 | 17 7577557 A C TP53 Missense_Mutation C242G deleterious(0) 2260 | 17 7577557 A G TP53 Missense_Mutation C242R deleterious(0) 2261 | 17 7577557 A T TP53 Missense_Mutation C242S deleterious(0) 2262 | 17 7577558 GG AA TP53 Missense_Mutation S241F deleterious(0) 2263 | 17 7577558 GGAACT - TP53 DEL I255del LoF 2264 | 17 7577559 G A TP53 Missense_Mutation S241F deleterious(0) 2265 | 17 7577559 G C TP53 Missense_Mutation S241C deleterious(0) 2266 | 17 7577559 G T TP53 Missense_Mutation S241Y deleterious(0) 2267 | 17 7577560 A - TP53 DEL I255del LoF 2268 | 17 7577560 A C TP53 Missense_Mutation S241A deleterious(0) 2269 | 17 7577560 A G TP53 Missense_Mutation S241P deleterious(0) 2270 | 17 7577560 A T TP53 Missense_Mutation S241T deleterious(0) 2271 | 17 7577561 ACTGTT - TP53 DEL I255del LoF 2272 | 17 7577562 - TGT TP53 INS I255del LoF 2273 | 17 7577563 TGTTACACA - TP53 DEL I255del LoF 2274 | 17 7577564 G T TP53 Missense_Mutation N239K deleterious(0) 2275 | 17 7577565 T C TP53 Missense_Mutation N239S deleterious(0.03) 2276 | 17 7577565 T G TP53 Missense_Mutation N239T deleterious(0) 2277 | 17 7577566 - A TP53 INS I255del LoF 2278 | 17 7577566 T C TP53 Missense_Mutation N239D deleterious(0) 2279 | 17 7577566 T G TP53 Missense_Mutation N239H deleterious(0) 2280 | 17 7577567 A C TP53 Missense_Mutation C238W deleterious(0) 2281 | 17 7577568 C A TP53 Missense_Mutation C238F deleterious(0) 2282 | 17 7577568 C G TP53 Missense_Mutation C238S deleterious(0) 2283 | 17 7577568 C T TP53 Missense_Mutation C238Y deleterious(0) 2284 | 17 7577569 A C TP53 Missense_Mutation C238G deleterious(0) 2285 | 17 7577569 A G TP53 Missense_Mutation C238R deleterious(0) 2286 | 17 7577569 A T TP53 Missense_Mutation C238S deleterious(0) 2287 | 17 7577569 ACATGTAGTTGT - TP53 DEL I255del LoF 2288 | 17 7577570 C T TP53 Missense_Mutation M237I deleterious(0) 2289 | 17 7577571 - TGTAGT TP53 INS I255del LoF 2290 | 17 7577571 A T TP53 Missense_Mutation M237K deleterious(0) 2291 | 17 7577572 T C TP53 Missense_Mutation M237V deleterious(0) 2292 | 17 7577572 TGT - TP53 DEL I255del LoF 2293 | 17 7577573 G T TP53 Nonsense_Mutation Y236* "" 2294 | 17 7577574 T C TP53 Missense_Mutation Y236C deleterious(0) 2295 | 17 7577574 T G TP53 Missense_Mutation Y236S deleterious(0) 2296 | 17 7577575 A C TP53 Missense_Mutation Y236D deleterious(0) 2297 | 17 7577575 A G TP53 Missense_Mutation Y236H deleterious(0) 2298 | 17 7577575 A T TP53 Missense_Mutation Y236N deleterious(0) 2299 | 17 7577576 GTT - TP53 DEL I255del LoF 2300 | 17 7577579 G T TP53 Nonsense_Mutation Y234* "" 2301 | 17 7577579 GTA - TP53 DEL I255del LoF 2302 | 17 7577580 T C TP53 Missense_Mutation Y234C deleterious(0) 2303 | 17 7577580 T G TP53 Missense_Mutation Y234S deleterious(0.01) 2304 | 17 7577581 A C TP53 Missense_Mutation Y234D deleterious(0.04) 2305 | 17 7577581 A G TP53 Missense_Mutation Y234H deleterious(0.01) 2306 | 17 7577581 A T TP53 Missense_Mutation Y234N deleterious(0) 2307 | 17 7577581 AGTGGATGGTGGTAC - TP53 DEL I255del LoF 2308 | 17 7577585 GATGGT - TP53 DEL I255del LoF 2309 | 17 7577586 - TGGTGGTACAGTCAG TP53 INS I255del LoF 2310 | 17 7577586 A C TP53 Missense_Mutation I232S deleterious(0) 2311 | 17 7577586 A G TP53 Missense_Mutation I232T deleterious(0) 2312 | 17 7577586 A T TP53 Missense_Mutation I232N deleterious(0) 2313 | 17 7577587 T A TP53 Missense_Mutation I232F deleterious(0) 2314 | 17 7577591 GGTACA - TP53 DEL I255del LoF 2315 | 17 7578189 A T TP53 Nonsense_Mutation Y220* "" 2316 | 17 7578190 T C TP53 Missense_Mutation Y220C deleterious(0) 2317 | 17 7578190 T G TP53 Missense_Mutation Y220S deleterious(0) 2318 | 17 7578191 A C TP53 Missense_Mutation Y220D deleterious(0) 2319 | 17 7578191 A G TP53 Missense_Mutation Y220H deleterious(0) 2320 | 17 7578191 A T TP53 Missense_Mutation Y220N deleterious(0) 2321 | 17 7578196 A C TP53 Missense_Mutation V218G deleterious(0) 2322 | 17 7578196 A T TP53 Missense_Mutation V218E deleterious(0) 2323 | 17 7578197 C A TP53 Missense_Mutation V218L deleterious(0.05) 2324 | 17 7578197 CC TT TP53 Missense_Mutation V218M "" 2325 | 17 7578202 A C TP53 Missense_Mutation V216G deleterious(0) 2326 | 17 7578202 A T TP53 Missense_Mutation V216E deleterious(0) 2327 | 17 7578203 C G TP53 Missense_Mutation V216L deleterious(0) 2328 | 17 7578203 C T TP53 Missense_Mutation V216M deleterious(0) 2329 | 17 7578204 A T TP53 Missense_Mutation S215R deleterious(0) 2330 | 17 7578205 C A TP53 Missense_Mutation S215I deleterious(0) 2331 | 17 7578205 C G TP53 Missense_Mutation S215T deleterious(0) 2332 | 17 7578205 C T TP53 Missense_Mutation S215N deleterious(0) 2333 | 17 7578206 T A TP53 Missense_Mutation S215C deleterious(0.02) 2334 | 17 7578206 T C TP53 Missense_Mutation S215G deleterious(0.01) 2335 | 17 7578206 T G TP53 Missense_Mutation S215R deleterious(0) 2336 | 17 7578207 A C TP53 Missense_Mutation H214Q tolerated(0.49) 2337 | 17 7578208 T A TP53 Missense_Mutation H214L deleterious(0) 2338 | 17 7578208 T C TP53 Missense_Mutation H214R deleterious(0.02) 2339 | 17 7578208 T G TP53 Missense_Mutation H214P deleterious(0) 2340 | 17 7578211 C A TP53 Missense_Mutation R213L deleterious(0) 2341 | 17 7578211 C G TP53 Missense_Mutation R213P deleterious(0) 2342 | 17 7578211 C T TP53 Missense_Mutation R213Q deleterious(0) 2343 | 17 7578212 G A TP53 Nonsense_Mutation R213* "" 2344 | 17 7578212 G C TP53 Missense_Mutation R213G deleterious(0.03) 2345 | 17 7578225 G T TP53 Missense_Mutation D208E deleterious(0) 2346 | 17 7578226 T A TP53 Missense_Mutation D208V deleterious(0) 2347 | 17 7578226 T C TP53 Missense_Mutation D208G deleterious(0.04) 2348 | 17 7578227 C T TP53 Missense_Mutation D208N deleterious(0.03) 2349 | 17 7578229 TC - TP53 DEL P191del LoF 2350 | 17 7578231 - AAAT TP53 INS P191del LoF 2351 | 17 7578234 - T TP53 Nonsense_Mutation Y205* "" 2352 | 17 7578235 T A TP53 Missense_Mutation Y205F deleterious(0) 2353 | 17 7578235 T C TP53 Missense_Mutation Y205C deleterious(0) 2354 | 17 7578235 T G TP53 Missense_Mutation Y205S deleterious(0) 2355 | 17 7578236 A C TP53 Missense_Mutation Y205D deleterious(0) 2356 | 17 7578236 A G TP53 Missense_Mutation Y205H deleterious(0.01) 2357 | 17 7578236 A T TP53 Missense_Mutation Y205N deleterious(0) 2358 | 17 7578238 TCCACACGCAAATTTCCT - TP53 DEL P191del LoF 2359 | 17 7578244 CGCAAATTTCCTTCCACT - TP53 DEL P191del LoF 2360 | 17 7578245 GCAAATTTCCTTCCACTCGGATAAGATGCTGAG - TP53 DEL P191del LoF 2361 | 17 7578249 ATTTCCTTCCAC - TP53 DEL P191del LoF 2362 | 17 7578251 TTCCTTCCACTCGGA - TP53 DEL P191del LoF 2363 | 17 7578257 C A TP53 Nonsense_Mutation E198* "" 2364 | 17 7578259 A C TP53 Missense_Mutation V197G deleterious(0) 2365 | 17 7578259 A T TP53 Missense_Mutation V197E deleterious(0) 2366 | 17 7578260 C A TP53 Missense_Mutation V197L deleterious(0.03) 2367 | 17 7578260 C T TP53 Missense_Mutation V197M deleterious(0.04) 2368 | 17 7578262 C A TP53 Missense_Mutation R196L deleterious(0) 2369 | 17 7578262 C G TP53 Missense_Mutation R196P deleterious(0) 2370 | 17 7578262 C T TP53 Missense_Mutation R196Q tolerated(0.07) 2371 | 17 7578263 G A TP53 Nonsense_Mutation R196* "" 2372 | 17 7578264 G C TP53 Missense_Mutation I195M deleterious(0.03) 2373 | 17 7578264 GA TT TP53 Missense_Mutation I195K deleterious(0) 2374 | 17 7578265 A C TP53 Missense_Mutation I195S deleterious(0) 2375 | 17 7578265 A G TP53 Missense_Mutation I195T deleterious(0) 2376 | 17 7578265 A T TP53 Missense_Mutation I195N deleterious(0) 2377 | 17 7578266 T A TP53 Missense_Mutation I195F deleterious(0) 2378 | 17 7578268 A C TP53 Missense_Mutation L194R deleterious(0) 2379 | 17 7578268 A G TP53 Missense_Mutation L194P deleterious(0) 2380 | 17 7578268 A T TP53 Missense_Mutation L194H deleterious(0) 2381 | 17 7578269 G A TP53 Missense_Mutation L194F deleterious(0) 2382 | 17 7578270 A T TP53 Missense_Mutation H193Q deleterious(0) 2383 | 17 7578271 T A TP53 Missense_Mutation H193L deleterious(0) 2384 | 17 7578271 T C TP53 Missense_Mutation H193R deleterious(0) 2385 | 17 7578271 T G TP53 Missense_Mutation H193P deleterious(0) 2386 | 17 7578271 TGC - TP53 DEL P191del LoF 2387 | 17 7578272 G A TP53 Missense_Mutation H193Y deleterious(0) 2388 | 17 7578272 G C TP53 Missense_Mutation H193D deleterious(0) 2389 | 17 7578272 G T TP53 Missense_Mutation H193N deleterious(0) 2390 | 17 7578274 T A TP53 Missense_Mutation Q192L deleterious(0.05) 2391 | 17 7578275 G A TP53 Nonsense_Mutation Q192* "" 2392 | 17 7578275 GAG - TP53 DEL P191del LoF 2393 | 17 7578280 G A TP53 Missense_Mutation P190L deleterious(0.05) 2394 | 17 7578280 G C TP53 Missense_Mutation P190R deleterious(0.02) 2395 | 17 7578281 G A TP53 Missense_Mutation P190S deleterious(0.04) 2396 | 17 7578281 G T TP53 Missense_Mutation P190T deleterious(0.02) 2397 | 17 7578371 CATCGCTATCTG - TP53 DEL P177_C182del LoF 2398 | 17 7578378 - TC TP53 INS P177_C182del LoF 2399 | 17 7578382 G - TP53 DEL P177_C182del LoF 2400 | 17 7578384 GCAGCGCTCATGGTGGGG - TP53 DEL P177_C182del LoF 2401 | 17 7578388 C G TP53 Missense_Mutation R181P deleterious(0.02) 2402 | 17 7578388 C T TP53 Missense_Mutation R181H deleterious(0.02) 2403 | 17 7578389 G A TP53 Missense_Mutation R181C tolerated(0.14) 2404 | 17 7578393 A C TP53 Missense_Mutation H179Q deleterious(0) 2405 | 17 7578394 T A TP53 Missense_Mutation H179L tolerated(0.12) 2406 | 17 7578394 T C TP53 Missense_Mutation H179R deleterious(0) 2407 | 17 7578394 T G TP53 Missense_Mutation H179P deleterious(0.01) 2408 | 17 7578394 TGG - TP53 DEL P177_C182del LoF 2409 | 17 7578395 G A TP53 Missense_Mutation H179Y deleterious(0) 2410 | 17 7578395 G C TP53 Missense_Mutation H179D deleterious(0) 2411 | 17 7578395 G T TP53 Missense_Mutation H179N deleterious(0) 2412 | 17 7578395 GGTGGG - TP53 DEL P177_C182del LoF 2413 | 17 7578396 G T TP53 Missense_Mutation H178Q deleterious(0) 2414 | 17 7578397 T G TP53 Missense_Mutation H178P deleterious(0) 2415 | 17 7578398 G C TP53 Missense_Mutation H178D deleterious(0) 2416 | 17 7578398 G T TP53 Missense_Mutation H178N deleterious(0) 2417 | 17 7578401 GG T TP53 DEL P177_C182del LoF 2418 | 17 7578402 G C TP53 Missense_Mutation C176W deleterious(0) 2419 | 17 7578402 G T TP53 Nonsense_Mutation C176* "" 2420 | 17 7578403 C A TP53 Missense_Mutation C176F deleterious(0) 2421 | 17 7578403 C G TP53 Missense_Mutation C176S deleterious(0) 2422 | 17 7578403 C T TP53 Missense_Mutation C176Y deleterious(0) 2423 | 17 7578404 A C TP53 Missense_Mutation C176G deleterious(0) 2424 | 17 7578404 A G TP53 Missense_Mutation C176R deleterious(0) 2425 | 17 7578404 A T TP53 Missense_Mutation C176S deleterious(0) 2426 | 17 7578406 C - TP53 DEL P177_C182del LoF 2427 | 17 7578406 C A TP53 Missense_Mutation R175L deleterious(0) 2428 | 17 7578406 C T TP53 Missense_Mutation R175H tolerated(0.11) 2429 | 17 7578407 G A TP53 Missense_Mutation R175C deleterious(0) 2430 | 17 7578407 G C TP53 Missense_Mutation R175G deleterious(0) 2431 | 17 7578411 C - TP53 DEL P177_C182del LoF 2432 | 17 7578412 A C TP53 Missense_Mutation V173G deleterious(0) 2433 | 17 7578412 A G TP53 Missense_Mutation V173A deleterious(0) 2434 | 17 7578412 A T TP53 Missense_Mutation V173E deleterious(0) 2435 | 17 7578413 C A TP53 Missense_Mutation V173L deleterious(0) 2436 | 17 7578413 C T TP53 Missense_Mutation V173M deleterious(0.02) 2437 | 17 7578415 A C TP53 Missense_Mutation V172G deleterious(0) 2438 | 17 7578415 A T TP53 Missense_Mutation V172D deleterious(0) 2439 | 17 7578416 C A TP53 Missense_Mutation V172F deleterious(0) 2440 | 17 7578427 T A TP53 Missense_Mutation H168L deleterious(0) 2441 | 17 7578427 T C TP53 Missense_Mutation H168R deleterious(0) 2442 | 17 7578427 T G TP53 Missense_Mutation H168P deleterious(0) 2443 | 17 7578428 GCTG ACTA TP53 Nonsense_Mutation H168Y "" 2444 | 17 7578431 G A TP53 Nonsense_Mutation Q167* "" 2445 | 17 7578435 C A TP53 Missense_Mutation Q165H deleterious(0) 2446 | 17 7578437 G A TP53 Nonsense_Mutation Q165* "" 2447 | 17 7578440 T A TP53 Nonsense_Mutation K164* "" 2448 | 17 7578440 T C TP53 Missense_Mutation K164E deleterious(0) 2449 | 17 7578441 G T TP53 Nonsense_Mutation Y163* "" 2450 | 17 7578442 T C TP53 Missense_Mutation Y163C deleterious(0) 2451 | 17 7578443 A C TP53 Missense_Mutation Y163D deleterious(0) 2452 | 17 7578443 A G TP53 Missense_Mutation Y163H deleterious(0) 2453 | 17 7578443 A T TP53 Missense_Mutation Y163N deleterious(0) 2454 | 17 7578443 AGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGT - TP53 DEL N131del LoF 2455 | 17 7578444 GATGGC - TP53 DEL N131del LoF 2456 | 17 7578446 TGGCCATGGCGCGGACGCGGG - TP53 DEL N131del LoF 2457 | 17 7578448 G A TP53 Missense_Mutation A161V deleterious(0) 2458 | 17 7578448 G T TP53 Missense_Mutation A161D deleterious(0) 2459 | 17 7578449 C A TP53 Missense_Mutation A161S deleterious(0) 2460 | 17 7578449 C T TP53 Missense_Mutation A161T deleterious(0) 2461 | 17 7578452 - GGCGCG TP53 INS N131del LoF 2462 | 17 7578453 GGCGCG - TP53 DEL N131del LoF 2463 | 17 7578454 G A TP53 Missense_Mutation A159V deleterious(0) 2464 | 17 7578454 G T TP53 Missense_Mutation A159D deleterious(0) 2465 | 17 7578454 GCGCGGACGCGGGT - TP53 DEL N131del LoF 2466 | 17 7578455 C G TP53 Missense_Mutation A159P deleterious(0) 2467 | 17 7578455 CGCGGA - TP53 DEL N131del LoF 2468 | 17 7578456 GCGGACGCGGGTGCCGGGCGGGGGTGT - TP53 DEL N131del LoF 2469 | 17 7578457 C A TP53 Missense_Mutation R158L deleterious(0) 2470 | 17 7578457 C G TP53 Missense_Mutation R158P deleterious(0) 2471 | 17 7578457 C T TP53 Missense_Mutation R158H tolerated(0.1) 2472 | 17 7578457 CG AA TP53 Missense_Mutation R158F deleterious(0) 2473 | 17 7578458 G A TP53 Missense_Mutation R158C deleterious(0) 2474 | 17 7578458 G C TP53 Missense_Mutation R158G deleterious(0) 2475 | 17 7578458 G T TP53 Missense_Mutation R158S deleterious(0) 2476 | 17 7578460 A C TP53 Missense_Mutation V157G deleterious(0) 2477 | 17 7578460 A G TP53 Missense_Mutation V157A deleterious(0) 2478 | 17 7578460 A T TP53 Missense_Mutation V157D deleterious(0) 2479 | 17 7578461 C A TP53 Missense_Mutation V157F deleterious(0) 2480 | 17 7578461 C G TP53 Missense_Mutation V157L tolerated(0.51) 2481 | 17 7578462 - C TP53 INS N131del LoF 2482 | 17 7578465 GGTGCC - TP53 DEL N131del LoF 2483 | 17 7578466 G A TP53 Missense_Mutation T155I deleterious(0.01) 2484 | 17 7578466 G T TP53 Missense_Mutation T155N deleterious(0.01) 2485 | 17 7578467 T G TP53 Missense_Mutation T155P deleterious(0.01) 2486 | 17 7578468 - CCGGGCGGGGGTGTGGAATCAGTG TP53 INS N131del LoF 2487 | 17 7578469 - CGGG TP53 INS N131del LoF 2488 | 17 7578469 C A TP53 Missense_Mutation G154V deleterious(0) 2489 | 17 7578469 C T TP53 Missense_Mutation G154D deleterious(0.02) 2490 | 17 7578470 - G TP53 INS N131del LoF 2491 | 17 7578470 C A TP53 Missense_Mutation G154C deleterious(0) 2492 | 17 7578475 G A TP53 Missense_Mutation P152L tolerated(0.08) 2493 | 17 7578475 G C TP53 Missense_Mutation P152R deleterious(0) 2494 | 17 7578475 G T TP53 Missense_Mutation P152Q deleterious(0) 2495 | 17 7578475 GG TT TP53 Missense_Mutation P152K deleterious(0) 2496 | 17 7578476 G A TP53 Missense_Mutation P152S deleterious(0) 2497 | 17 7578476 G T TP53 Missense_Mutation P152T deleterious(0) 2498 | 17 7578478 G A TP53 Missense_Mutation P151L deleterious(0.02) 2499 | 17 7578478 G C TP53 Missense_Mutation P151R deleterious(0) 2500 | 17 7578478 G T TP53 Missense_Mutation P151H deleterious(0) 2501 | 17 7578478 GG AA TP53 Missense_Mutation P151F deleterious(0) 2502 | 17 7578478 GGT - TP53 DEL N131del LoF 2503 | 17 7578479 G A TP53 Missense_Mutation P151S deleterious(0.01) 2504 | 17 7578479 G C TP53 Missense_Mutation P151A deleterious(0.01) 2505 | 17 7578479 G T TP53 Missense_Mutation P151T deleterious(0) 2506 | 17 7578480 TGTGGAATC - TP53 DEL N131del LoF 2507 | 17 7578485 A - TP53 DEL N131del LoF 2508 | 17 7578486 ATC - TP53 DEL N131del LoF 2509 | 17 7578492 C G TP53 Missense_Mutation W146C tolerated(0.18) 2510 | 17 7578492 C T TP53 Nonsense_Mutation W146* "" 2511 | 17 7578493 C G TP53 Missense_Mutation W146S tolerated(0.75) 2512 | 17 7578493 C T TP53 Nonsense_Mutation W146* "" 2513 | 17 7578494 A C TP53 Missense_Mutation W146G tolerated(0.47) 2514 | 17 7578495 CAGCTGCACAGGG - TP53 DEL N131del LoF 2515 | 17 7578498 C A TP53 Missense_Mutation Q144H deleterious(0.04) 2516 | 17 7578498 CT GG TP53 Missense_Mutation Q144P deleterious(0.01) 2517 | 17 7578499 T A TP53 Missense_Mutation Q144L tolerated(0.11) 2518 | 17 7578499 T G TP53 Missense_Mutation Q144P deleterious(0.01) 2519 | 17 7578500 G A TP53 Nonsense_Mutation Q144* "" 2520 | 17 7578502 A C TP53 Missense_Mutation V143G deleterious(0) 2521 | 17 7578502 A G TP53 Missense_Mutation V143A deleterious(0) 2522 | 17 7578502 A T TP53 Missense_Mutation V143E deleterious(0) 2523 | 17 7578503 C T TP53 Missense_Mutation V143M deleterious(0) 2524 | 17 7578504 - GGG TP53 INS N131del LoF 2525 | 17 7578505 G - TP53 DEL N131del LoF 2526 | 17 7578506 GGCAGGTCTTGGCCAGTT - TP53 DEL N131del LoF 2527 | 17 7578507 G C TP53 Missense_Mutation C141W deleterious(0) 2528 | 17 7578507 G T TP53 Nonsense_Mutation C141* "" 2529 | 17 7578508 C A TP53 Missense_Mutation C141F deleterious(0) 2530 | 17 7578508 C G TP53 Missense_Mutation C141S tolerated(0.19) 2531 | 17 7578508 C T TP53 Missense_Mutation C141Y deleterious(0) 2532 | 17 7578509 A C TP53 Missense_Mutation C141G deleterious(0.01) 2533 | 17 7578509 A G TP53 Missense_Mutation C141R deleterious(0) 2534 | 17 7578515 - GGCCAGTTGGCAAAACATCTTGTTGAG TP53 INS N131del LoF 2535 | 17 7578520 AGTTGG - TP53 DEL N131del LoF 2536 | 17 7578521 GTTGGCAAAAC - TP53 DEL N131del LoF 2537 | 17 7578522 T A TP53 Missense_Mutation Q136H deleterious(0) 2538 | 17 7578523 T A TP53 Missense_Mutation Q136L deleterious(0) 2539 | 17 7578523 T G TP53 Missense_Mutation Q136P deleterious(0) 2540 | 17 7578524 G A TP53 Nonsense_Mutation Q136* "" 2541 | 17 7578524 G C TP53 Missense_Mutation Q136E deleterious(0) 2542 | 17 7578525 G C TP53 Missense_Mutation C135W deleterious(0) 2543 | 17 7578525 G T TP53 Nonsense_Mutation C135* "" 2544 | 17 7578526 C A TP53 Missense_Mutation C135F deleterious(0) 2545 | 17 7578526 C G TP53 Missense_Mutation C135S deleterious(0) 2546 | 17 7578526 C T TP53 Missense_Mutation C135Y deleterious(0) 2547 | 17 7578527 A C TP53 Missense_Mutation C135G deleterious(0) 2548 | 17 7578527 A G TP53 Missense_Mutation C135R deleterious(0) 2549 | 17 7578527 A T TP53 Missense_Mutation C135S deleterious(0) 2550 | 17 7578528 A T TP53 Missense_Mutation F134L deleterious(0) 2551 | 17 7578529 A C TP53 Missense_Mutation F134C deleterious(0) 2552 | 17 7578529 A G TP53 Missense_Mutation F134S deleterious(0) 2553 | 17 7578530 A C TP53 Missense_Mutation F134V deleterious(0) 2554 | 17 7578530 A G TP53 Missense_Mutation F134L deleterious(0) 2555 | 17 7578530 A T TP53 Missense_Mutation F134I deleterious(0) 2556 | 17 7578531 C A TP53 Missense_Mutation M133I deleterious(0) 2557 | 17 7578532 A C TP53 Missense_Mutation M133R deleterious(0) 2558 | 17 7578532 A G TP53 Missense_Mutation M133T deleterious(0) 2559 | 17 7578532 A T TP53 Missense_Mutation M133K deleterious(0) 2560 | 17 7578534 C G TP53 Missense_Mutation K132N deleterious(0) 2561 | 17 7578535 T - TP53 DEL N131del LoF 2562 | 17 7578535 T A TP53 Missense_Mutation K132M tolerated(0.05) 2563 | 17 7578535 T C TP53 Missense_Mutation K132R deleterious(0.01) 2564 | 17 7578535 T G TP53 Missense_Mutation K132T deleterious(0) 2565 | 17 7578536 T A TP53 Nonsense_Mutation K132* "" 2566 | 17 7578536 T C TP53 Missense_Mutation K132E deleterious(0) 2567 | 17 7578536 T G TP53 Missense_Mutation K132Q deleterious(0) 2568 | 17 7578537 G C TP53 Missense_Mutation N131K deleterious(0) 2569 | 17 7578538 T A TP53 Missense_Mutation N131I deleterious(0) 2570 | 17 7578538 T C TP53 Missense_Mutation N131S deleterious(0) 2571 | 17 7578540 GAG - TP53 DEL N131del LoF 2572 | 17 7578541 A C TP53 Missense_Mutation L130R deleterious(0) 2573 | 17 7578541 A G TP53 Missense_Mutation L130P deleterious(0) 2574 | 17 7578541 A T TP53 Missense_Mutation L130H deleterious(0) 2575 | 17 7578542 G A TP53 Missense_Mutation L130F deleterious(0) 2576 | 17 7578542 G C TP53 Missense_Mutation L130V deleterious(0) 2577 | 17 7578547 G - TP53 DEL N131del LoF 2578 | 17 7578550 G A TP53 Missense_Mutation S127F deleterious(0) 2579 | 17 7578550 G C TP53 Missense_Mutation S127C deleterious(0) 2580 | 17 7578550 G T TP53 Missense_Mutation S127Y deleterious(0) 2581 | 17 7578551 A G TP53 Missense_Mutation S127P deleterious(0) 2582 | 17 7578551 A T TP53 Missense_Mutation S127T deleterious(0) 2583 | 17 7578552 G C TP53 Nonsense_Mutation Y126* "" 2584 | 17 7578553 T C TP53 Missense_Mutation Y126C deleterious(0) 2585 | 17 7578553 T G TP53 Missense_Mutation Y126S deleterious(0) 2586 | 17 7578554 A C TP53 Missense_Mutation Y126D deleterious(0) 2587 | 17 7578554 A G TP53 Missense_Mutation Y126H deleterious(0) 2588 | 17 7578554 A T TP53 Missense_Mutation Y126N deleterious(0) 2589 | 17 7579313 G A TP53 Missense_Mutation T125M deleterious(0.03) 2590 | 17 7579313 G C TP53 Missense_Mutation T125R deleterious(0) 2591 | 17 7579313 G T TP53 Missense_Mutation T125K deleterious(0) 2592 | 17 7579314 T C TP53 Missense_Mutation T125A deleterious(0) 2593 | 17 7579314 T G TP53 Missense_Mutation T125P deleterious(0) 2594 | 17 7579327 C A TP53 Missense_Mutation K120N deleterious(0) 2595 | 17 7579328 T A TP53 Missense_Mutation K120M deleterious(0) 2596 | 17 7579329 T A TP53 Nonsense_Mutation K120* "" 2597 | 17 7579329 T C TP53 Missense_Mutation K120E deleterious(0) 2598 | 17 7579348 G C TP53 Missense_Mutation F113L deleterious(0) 2599 | 17 7579348 GAA AGG TP53 Missense_Mutation F113P deleterious(0) 2600 | 17 7579349 A C TP53 Missense_Mutation F113C deleterious(0) 2601 | 17 7579349 A G TP53 Missense_Mutation F113S deleterious(0) 2602 | 17 7579350 A C TP53 Missense_Mutation F113V deleterious(0) 2603 | 17 7579355 A C TP53 Missense_Mutation L111R deleterious(0) 2604 | 17 7579355 A G TP53 Missense_Mutation L111P deleterious(0) 2605 | 17 7579355 A T TP53 Missense_Mutation L111Q deleterious(0) 2606 | 17 7579356 G T TP53 Missense_Mutation L111M deleterious(0.01) 2607 | 17 7579358 C A TP53 Missense_Mutation R110L deleterious(0.04) 2608 | 17 7579358 C G TP53 Missense_Mutation R110P deleterious(0.03) 2609 | 17 7579358 C T TP53 Missense_Mutation R110H tolerated(0.2) 2610 | 17 7579359 GG AA TP53 Missense_Mutation R110C "" 2611 | 17 7579361 A C TP53 Missense_Mutation F109C deleterious(0) 2612 | 17 7579361 A G TP53 Missense_Mutation F109S deleterious(0) 2613 | 17 7579362 A C TP53 Missense_Mutation F109V deleterious(0) 2614 | 17 7579362 A T TP53 Missense_Mutation F109I deleterious(0) 2615 | 17 7579366 G T TP53 Nonsense_Mutation Y107* "" 2616 | 17 7579368 A C TP53 Missense_Mutation Y107D deleterious(0.01) 2617 | 17 7579373 C A TP53 Missense_Mutation G105V deleterious(0) 2618 | 17 7579373 C T TP53 Missense_Mutation G105D deleterious(0) 2619 | 17 7579374 C A TP53 Missense_Mutation G105C deleterious(0) 2620 | 17 7579374 C G TP53 Missense_Mutation G105R deleterious(0) 2621 | 17 7579374 C T TP53 Missense_Mutation G105S tolerated(0.07) 2622 | 17 7579375 C A TP53 Missense_Mutation Q104H tolerated(0.11) 2623 | 17 7579377 G A TP53 Nonsense_Mutation Q104* "" 2624 | 17 7579414 C T TP53 Nonsense_Mutation W91* "" 2625 | 17 7579415 C T TP53 Nonsense_Mutation W91* "" 2626 | 17 7579528 C T TP53 Nonsense_Mutation W53* "" 2627 | 17 7579529 C T TP53 Nonsense_Mutation W53* "" 2628 | 17 11984782 C T MAP2K4 Nonsense_Mutation R110* "" 2629 | 17 11984783 G A MAP2K4 Missense_Mutation R110Q deleterious(0.02) 2630 | 17 11984783 G C MAP2K4 Missense_Mutation R110P deleterious(0) 2631 | 17 11984783 G T MAP2K4 Missense_Mutation R110L deleterious(0) 2632 | 17 11998898 C T MAP2K4 Missense_Mutation R134W deleterious(0) 2633 | 17 11998899 G A MAP2K4 Missense_Mutation R134Q deleterious(0.01) 2634 | 17 11998899 G T MAP2K4 Missense_Mutation R134L deleterious(0) 2635 | 17 12011144 C G MAP2K4 Missense_Mutation S184W deleterious(0) 2636 | 17 12011144 C T MAP2K4 Missense_Mutation S184L deleterious(0) 2637 | 17 29533315 C T NF1 Nonsense_Mutation R440* "" 2638 | 17 29533316 G A NF1 Missense_Mutation R440Q deleterious(0.01) 2639 | 17 29533378 C T NF1 Nonsense_Mutation R461* "" 2640 | 17 29533379 G A NF1 Missense_Mutation R461Q deleterious(0.01) 2641 | 17 29562641 C T NF1 Nonsense_Mutation R1241* "" 2642 | 17 29654856 C T NF1 Missense_Mutation R1870W deleterious(0) 2643 | 17 29654857 G A NF1 Missense_Mutation R1870Q deleterious(0) 2644 | 17 29677227 C T NF1 Nonsense_Mutation R2450* "" 2645 | 17 29677228 G A NF1 Missense_Mutation R2450Q deleterious(0) 2646 | 17 30267331 C T SUZ12 Nonsense_Mutation R101* "" 2647 | 17 30267332 G A SUZ12 Missense_Mutation R101Q deleterious(0) 2648 | 17 37667784 G A CDK12 Missense_Mutation R890H "" 2649 | 17 37864656 G A ERBB2 Missense_Mutation R103Q deleterious(0) 2650 | 17 37864760 C T ERBB2 Missense_Mutation R138W deleterious(0) 2651 | 17 37864761 G A ERBB2 Missense_Mutation R138Q tolerated(0.19) 2652 | 17 37866662 G C ERBB2 Missense_Mutation D277H tolerated(0.06) 2653 | 17 37866662 G T ERBB2 Missense_Mutation D277Y tolerated(0.06) 2654 | 17 37866663 A G ERBB2 Missense_Mutation D277G tolerated(0.15) 2655 | 17 37866663 A T ERBB2 Missense_Mutation D277V tolerated(0.29) 2656 | 17 37866710 G A ERBB2 Missense_Mutation A293T deleterious(0) 2657 | 17 37866710 G C ERBB2 Missense_Mutation A293P deleterious(0.01) 2658 | 17 37866711 C T ERBB2 Missense_Mutation A293V deleterious(0.02) 2659 | 17 37868208 C A ERBB2 Missense_Mutation S310Y deleterious(0) 2660 | 17 37868208 C T ERBB2 Missense_Mutation S310F deleterious(0) 2661 | 17 37879601 T A ERBB2 Missense_Mutation V659D deleterious(0.01) 2662 | 17 37879601 TT AG ERBB2 Missense_Mutation V659E deleterious(0.01) 2663 | 17 37879603 G C ERBB2 Missense_Mutation G660R deleterious(0) 2664 | 17 37879604 G A ERBB2 Missense_Mutation G660D deleterious(0) 2665 | 17 37879657 C T ERBB2 Missense_Mutation R678W deleterious(0) 2666 | 17 37879658 G A ERBB2 Missense_Mutation R678Q tolerated(0.19) 2667 | 17 37879794 G C ERBB2 Missense_Mutation V697L deleterious(0) 2668 | 17 37879903 C T ERBB2 Missense_Mutation T733I deleterious(0) 2669 | 17 37880219 T A ERBB2 Missense_Mutation L755M deleterious(0) 2670 | 17 37880219 TT CC ERBB2 Missense_Mutation L755P deleterious(0) 2671 | 17 37880219 TT GC ERBB2 Missense_Mutation L755A deleterious(0) 2672 | 17 37880220 T C ERBB2 Missense_Mutation L755S deleterious(0) 2673 | 17 37880220 T G ERBB2 Missense_Mutation L755W deleterious(0) 2674 | 17 37880257 C G ERBB2 Missense_Mutation I767M deleterious(0) 2675 | 17 37880261 G C ERBB2 Missense_Mutation D769H deleterious(0) 2676 | 17 37880261 G T ERBB2 Missense_Mutation D769Y deleterious(0) 2677 | 17 37880981 - GCATACGTGATG ERBB2 INS Y772_A775dup LoF 2678 | 17 37880984 - TACGTGATGGCT ERBB2 INS Y772_A775dup LoF 2679 | 17 37880988 - TGA ERBB2 INS Y772_A775dup LoF 2680 | 17 37880997 G A ERBB2 Missense_Mutation G776S tolerated(1) 2681 | 17 37880998 G T ERBB2 Missense_Mutation G776V deleterious(0.02) 2682 | 17 37881000 G A ERBB2 Missense_Mutation V777M tolerated(0.27) 2683 | 17 37881000 G T ERBB2 Missense_Mutation V777L deleterious(0.05) 2684 | 17 37881001 - GGGCTCCCC ERBB2 INS G778_P780dup LoF 2685 | 17 37881002 - GGCTCCCCA ERBB2 INS G778_P780dup LoF 2686 | 17 37881332 G A ERBB2 Missense_Mutation V842I deleterious(0) 2687 | 17 37881392 A G ERBB2 Missense_Mutation T862A deleterious(0) 2688 | 17 37881414 T G ERBB2 Missense_Mutation L869R deleterious(0) 2689 | 17 38510602 T A RARA Missense_Mutation F286I deleterious(0.02) 2690 | 17 38510603 T C RARA Missense_Mutation F286S deleterious(0) 2691 | 17 38510603 T G RARA Missense_Mutation F286C deleterious(0.01) 2692 | 17 40474419 T A STAT3 Missense_Mutation D661V tolerated(0.43) 2693 | 17 40474420 C A STAT3 Missense_Mutation D661Y deleterious(0.03) 2694 | 17 40475061 CTT - STAT3 DEL E616del LoF 2695 | 17 40475068 G T STAT3 Missense_Mutation S614R tolerated(0.35) 2696 | 17 40475070 T G STAT3 Missense_Mutation S614R tolerated(0.35) 2697 | 17 40481576 T C STAT3 Missense_Mutation H410R deleterious(0) 2698 | 17 40481576 T G STAT3 Missense_Mutation H410P deleterious(0) 2699 | 17 40481653 A C STAT3 Missense_Mutation F384L deleterious(0.02) 2700 | 17 40481654 A T STAT3 Missense_Mutation F384Y deleterious(0.02) 2701 | 17 40481655 A C STAT3 Missense_Mutation F384V deleterious(0) 2702 | 17 47696424 G C SPOP Missense_Mutation F133L tolerated(0.07) 2703 | 17 47696425 A C SPOP Missense_Mutation F133C deleterious(0.01) 2704 | 17 47696425 A G SPOP Missense_Mutation F133S deleterious(0) 2705 | 17 47696426 A C SPOP Missense_Mutation F133V deleterious(0.03) 2706 | 17 47696426 A G SPOP Missense_Mutation F133L tolerated(0.07) 2707 | 17 47696426 A T SPOP Missense_Mutation F133I deleterious(0.05) 2708 | 17 47696430 C G SPOP Missense_Mutation W131C deleterious(0.03) 2709 | 17 47696431 C A SPOP Missense_Mutation W131L deleterious(0.05) 2710 | 17 47696431 C G SPOP Missense_Mutation W131S deleterious(0.04) 2711 | 17 47696432 A C SPOP Missense_Mutation W131G deleterious(0.03) 2712 | 17 47696432 A G SPOP Missense_Mutation W131R tolerated(0.1) 2713 | 17 47696438 T C SPOP Missense_Mutation K129E tolerated(0.12) 2714 | 17 47696448 A C SPOP Missense_Mutation F125L deleterious(0.04) 2715 | 17 47696449 A C SPOP Missense_Mutation F125C deleterious(0) 2716 | 17 47696450 A C SPOP Missense_Mutation F125V deleterious(0.01) 2717 | 17 47696450 A G SPOP Missense_Mutation F125L deleterious(0.04) 2718 | 17 47696450 A T SPOP Missense_Mutation F125I deleterious(0.03) 2719 | 17 47696599 T C SPOP Missense_Mutation M117V tolerated(0.12) 2720 | 17 47696642 G C SPOP Missense_Mutation F102L tolerated(0.09) 2721 | 17 47696643 A C SPOP Missense_Mutation F102C deleterious(0) 2722 | 17 47696643 A G SPOP Missense_Mutation F102S deleterious(0) 2723 | 17 47696644 A C SPOP Missense_Mutation F102V tolerated(0.11) 2724 | 17 47696644 A T SPOP Missense_Mutation F102I deleterious(0.04) 2725 | 17 47696688 T C SPOP Missense_Mutation Y87C tolerated(0.11) 2726 | 17 47696688 T G SPOP Missense_Mutation Y87S tolerated(0.06) 2727 | 17 47696689 A C SPOP Missense_Mutation Y87D deleterious(0.01) 2728 | 17 47696689 A T SPOP Missense_Mutation Y87N tolerated(0.1) 2729 | 17 56436026 G A RNF43 Nonsense_Mutation R371* "" 2730 | 17 56440904 G A RNF43 Nonsense_Mutation R145* "" 2731 | 17 56440943 G A RNF43 Nonsense_Mutation R132* "" 2732 | 17 56448390 T C RNF43 Missense_Mutation H86R deleterious(0) 2733 | 17 56448391 G A RNF43 Missense_Mutation H86Y deleterious(0) 2734 | 17 56770065 C A RAD51C Missense_Mutation P21T deleterious(0.05) 2735 | 17 56770065 C G RAD51C Missense_Mutation P21A tolerated(0.32) 2736 | 17 56770065 C T RAD51C Missense_Mutation P21S tolerated(0.16) 2737 | 17 56780655 T C RAD51C Missense_Mutation Y224H tolerated(0.35) 2738 | 17 58740668 G T PPM1D Nonsense_Mutation E525* "" 2739 | 17 62006798 T A CD79B Missense_Mutation Y197F deleterious(0) 2740 | 17 62006798 T C CD79B Missense_Mutation Y197C deleterious(0) 2741 | 17 62006798 T G CD79B Missense_Mutation Y197S deleterious(0) 2742 | 17 62006798 TA CG CD79B Missense_Mutation Y197R deleterious(0) 2743 | 17 62006799 A C CD79B Missense_Mutation Y197D deleterious(0) 2744 | 17 62006799 A G CD79B Missense_Mutation Y197H deleterious(0) 2745 | 17 62006799 A T CD79B Missense_Mutation Y197N deleterious(0) 2746 | 17 70118877 AGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACA - SOX9 DEL K167del LoF 2747 | 17 70118881 GCG - SOX9 DEL K167del LoF 2748 | 17 70118924 AAG - SOX9 DEL K167del LoF 2749 | 17 74732896 CCGTAGCCACCGCCCCCGTACCTGCGGGGTGGCGGTCCCCGGCGGCTGTGGTGTGAGTCCGGGGGGCGG - SRSF2 DEL P95_H99del LoF 2750 | 17 74732936 GGCGGCTGTGGTGTGAGTCCGGGG - SRSF2 DEL P95_H99del LoF 2751 | 17 74732943 GTGGTGTGAGTCCGGGGGGCGGCCGTA - SRSF2 DEL P95_H99del LoF 2752 | 17 74732945 GGTGTGAGTCCGGGG - SRSF2 DEL P95_H99del LoF 2753 | 17 74732946 GTGTGAGTCCGGGGGGCGGCCGTA - SRSF2 DEL P95_H99del LoF 2754 | 17 74732959 G A SRSF2 Missense_Mutation P95L tolerated(0.57) 2755 | 17 74732959 G C SRSF2 Missense_Mutation P95R tolerated(0.12) 2756 | 17 74732959 G T SRSF2 Missense_Mutation P95H deleterious(0.04) 2757 | 17 78681708 G A RPTOR Missense_Mutation R139H deleterious(0) 2758 | 18 45368211 G C SMAD2 Nonsense_Mutation S464* "" 2759 | 18 45368213 G T SMAD2 Nonsense_Mutation C463* "" 2760 | 18 45368214 C A SMAD2 Missense_Mutation C463F deleterious(0) 2761 | 18 45374881 C T SMAD2 Missense_Mutation R321Q deleterious(0.03) 2762 | 18 45374882 G A SMAD2 Nonsense_Mutation R321* "" 2763 | 18 45374929 G A SMAD2 Missense_Mutation P305L deleterious(0.03) 2764 | 18 45374929 G T SMAD2 Missense_Mutation P305Q deleterious(0) 2765 | 18 45374930 G T SMAD2 Missense_Mutation P305T deleterious(0.02) 2766 | 18 45374935 G A SMAD2 Missense_Mutation T303I deleterious(0) 2767 | 18 45374935 G C SMAD2 Missense_Mutation T303R deleterious(0.02) 2768 | 18 45394805 G A SMAD2 Nonsense_Mutation R182* "" 2769 | 18 48575089 T C SMAD4 Missense_Mutation Y95H deleterious(0) 2770 | 18 48575090 A G SMAD4 Missense_Mutation Y95C deleterious(0) 2771 | 18 48575091 T G SMAD4 Nonsense_Mutation Y95* "" 2772 | 18 48575159 C T SMAD4 Missense_Mutation A118V deleterious(0.04) 2773 | 18 48581229 C A SMAD4 Nonsense_Mutation S178* "" 2774 | 18 48591825 G A SMAD4 Missense_Mutation E330K deleterious(0) 2775 | 18 48591825 G C SMAD4 Missense_Mutation E330Q deleterious(0) 2776 | 18 48591825 G T SMAD4 Nonsense_Mutation E330* "" 2777 | 18 48591826 A G SMAD4 Missense_Mutation E330G deleterious(0) 2778 | 18 48591888 G A SMAD4 Missense_Mutation D351N deleterious(0) 2779 | 18 48591888 G C SMAD4 Missense_Mutation D351H deleterious(0) 2780 | 18 48591888 G T SMAD4 Missense_Mutation D351Y deleterious(0) 2781 | 18 48591889 A C SMAD4 Missense_Mutation D351A deleterious(0) 2782 | 18 48591889 A G SMAD4 Missense_Mutation D351G deleterious(0.04) 2783 | 18 48591889 A T SMAD4 Missense_Mutation D351V deleterious(0) 2784 | 18 48591891 G A SMAD4 Missense_Mutation G352R deleterious(0) 2785 | 18 48591891 G T SMAD4 Nonsense_Mutation G352* "" 2786 | 18 48591891 GG TT SMAD4 Missense_Mutation G352L deleterious(0) 2787 | 18 48591892 G A SMAD4 Missense_Mutation G352E deleterious(0) 2788 | 18 48591892 G C SMAD4 Missense_Mutation G352A deleterious(0) 2789 | 18 48591892 G T SMAD4 Missense_Mutation G352V deleterious(0) 2790 | 18 48591894 T A SMAD4 Missense_Mutation Y353N tolerated(0.13) 2791 | 18 48591894 T G SMAD4 Missense_Mutation Y353D tolerated(0.06) 2792 | 18 48591895 A G SMAD4 Missense_Mutation Y353C deleterious(0.02) 2793 | 18 48591900 G T SMAD4 Missense_Mutation D355Y deleterious(0) 2794 | 18 48591901 A G SMAD4 Missense_Mutation D355G deleterious(0) 2795 | 18 48591901 A T SMAD4 Missense_Mutation D355V deleterious(0) 2796 | 18 48591903 C T SMAD4 Missense_Mutation P356S deleterious(0) 2797 | 18 48591904 C A SMAD4 Missense_Mutation P356H deleterious(0) 2798 | 18 48591904 C G SMAD4 Missense_Mutation P356R deleterious(0) 2799 | 18 48591904 C T SMAD4 Missense_Mutation P356L deleterious(0) 2800 | 18 48591905 TTCTGGAGGAGATCGCTTTTGTTTGGG - SMAD4 DEL R361_G365del LoF 2801 | 18 48591908 TGGAGGAGA - SMAD4 DEL R361_G365del LoF 2802 | 18 48591917 TCGCTTTTGTTTGGG - SMAD4 DEL R361_G365del LoF 2803 | 18 48591918 C A SMAD4 Missense_Mutation R361S deleterious(0.04) 2804 | 18 48591918 C G SMAD4 Missense_Mutation R361G deleterious(0) 2805 | 18 48591918 C T SMAD4 Missense_Mutation R361C deleterious(0) 2806 | 18 48591918 CGCTTTTGTTTG - SMAD4 DEL R361_G365del LoF 2807 | 18 48591919 G A SMAD4 Missense_Mutation R361H deleterious(0.03) 2808 | 18 48591919 G C SMAD4 Missense_Mutation R361P deleterious(0) 2809 | 18 48591919 G T SMAD4 Missense_Mutation R361L deleterious(0) 2810 | 18 48591920 CTTTTGTTTGGGTCAACTCTCCAATGTCCA - SMAD4 DEL R361_G365del LoF 2811 | 18 48591923 TTG - SMAD4 DEL R361_G365del LoF 2812 | 18 48591924 T C SMAD4 Missense_Mutation C363R deleterious(0) 2813 | 18 48591925 G A SMAD4 Missense_Mutation C363Y deleterious(0) 2814 | 18 48591925 G C SMAD4 Missense_Mutation C363S deleterious(0) 2815 | 18 48591925 G T SMAD4 Missense_Mutation C363F deleterious(0) 2816 | 18 48591929 GGGTCAACTCTCCAATGTCCACAGGACAGAAGCCATTGA - SMAD4 DEL R361_G365del LoF 2817 | 18 48593405 G A SMAD4 Missense_Mutation G386S deleterious(0.04) 2818 | 18 48593405 G C SMAD4 Missense_Mutation G386R deleterious(0) 2819 | 18 48593405 G T SMAD4 Missense_Mutation G386C deleterious(0) 2820 | 18 48593406 G A SMAD4 Missense_Mutation G386D deleterious(0.01) 2821 | 18 48593406 G C SMAD4 Missense_Mutation G386A deleterious(0) 2822 | 18 48593406 G T SMAD4 Missense_Mutation G386V deleterious(0) 2823 | 18 48593504 G A SMAD4 Missense_Mutation G419R deleterious(0) 2824 | 18 48593504 G T SMAD4 Missense_Mutation G419W deleterious(0) 2825 | 18 48593505 G T SMAD4 Missense_Mutation G419V deleterious(0) 2826 | 18 48603032 C T SMAD4 Nonsense_Mutation R445* "" 2827 | 18 48603033 G A SMAD4 Missense_Mutation R445Q tolerated(0.17) 2828 | 18 48604655 G A SMAD4 Missense_Mutation D493N deleterious(0) 2829 | 18 48604655 G C SMAD4 Missense_Mutation D493H deleterious(0) 2830 | 18 48604656 A C SMAD4 Missense_Mutation D493A deleterious(0) 2831 | 18 48604656 A G SMAD4 Missense_Mutation D493G deleterious(0.01) 2832 | 18 48604706 G A SMAD4 Missense_Mutation G510R deleterious(0) 2833 | 18 48604706 G T SMAD4 Nonsense_Mutation G510* "" 2834 | 18 48604707 G A SMAD4 Missense_Mutation G510E deleterious(0) 2835 | 18 48604707 G C SMAD4 Missense_Mutation G510A deleterious(0) 2836 | 18 48604748 T A SMAD4 Missense_Mutation W524R deleterious(0) 2837 | 18 48604749 G C SMAD4 Missense_Mutation W524S deleterious(0) 2838 | 18 48604749 G T SMAD4 Missense_Mutation W524L deleterious(0) 2839 | 18 48604750 G C SMAD4 Missense_Mutation W524C deleterious(0.04) 2840 | 18 48604754 G A SMAD4 Missense_Mutation E526K deleterious(0) 2841 | 18 48604754 G C SMAD4 Missense_Mutation E526Q deleterious(0) 2842 | 18 48604754 G T SMAD4 Nonsense_Mutation E526* "" 2843 | 18 48604755 A C SMAD4 Missense_Mutation E526A deleterious(0) 2844 | 18 48604755 A T SMAD4 Missense_Mutation E526V deleterious(0) 2845 | 18 48604756 A C SMAD4 Missense_Mutation E526D deleterious(0) 2846 | 18 48604778 C T SMAD4 Nonsense_Mutation Q534* "" 2847 | 18 48604779 A C SMAD4 Missense_Mutation Q534P deleterious(0) 2848 | 18 48604785 T A SMAD4 Missense_Mutation L536Q deleterious(0) 2849 | 18 48604785 T C SMAD4 Missense_Mutation L536P deleterious(0) 2850 | 18 48604785 T G SMAD4 Missense_Mutation L536R deleterious(0) 2851 | 18 48604785 TAGACG - SMAD4 DEL L536_E538delinsQ LoF 2852 | 18 48604787 G C SMAD4 Missense_Mutation D537H deleterious(0) 2853 | 18 48604787 G T SMAD4 Missense_Mutation D537Y deleterious(0) 2854 | 18 48604788 A C SMAD4 Missense_Mutation D537A deleterious(0) 2855 | 18 48604788 A G SMAD4 Missense_Mutation D537G deleterious(0) 2856 | 18 48604788 A T SMAD4 Missense_Mutation D537V deleterious(0) 2857 | 18 48604789 C G SMAD4 Missense_Mutation D537E deleterious(0) 2858 | 18 48604792 AGTACTTCATACCATGCCGATTGC - SMAD4 DEL L536_E538delinsQ LoF 2859 | 18 48604796 CTT - SMAD4 DEL L536_E538delinsQ LoF 2860 | 18 60985384 GTT CTG BCL2 Missense_Mutation N172Q tolerated(0.07) 2861 | 18 60985385 T C BCL2 Missense_Mutation N172S tolerated(0.46) 2862 | 18 60985508 G A BCL2 Missense_Mutation A131V tolerated(0.4) 2863 | 18 60985508 G T BCL2 Missense_Mutation A131D tolerated(0.25) 2864 | 18 60985509 C T BCL2 Missense_Mutation A131T tolerated(0.35) 2865 | 18 60985803 C T BCL2 Missense_Mutation G33R tolerated(0.39) 2866 | 18 60985835 T C BCL2 Missense_Mutation K22R deleterious(0.01) 2867 | 18 60985836 T A BCL2 Nonsense_Mutation K22* "" 2868 | 19 1207162 A T STK11 Nonsense_Mutation K84* "" 2869 | 19 1220400 G A STK11 Missense_Mutation E165K deleterious(0.02) 2870 | 19 1220400 G C STK11 Missense_Mutation E165Q deleterious(0.03) 2871 | 19 1220400 G T STK11 Nonsense_Mutation E165* "" 2872 | 19 1220427 C G STK11 Missense_Mutation H174D deleterious(0) 2873 | 19 1220427 C T STK11 Missense_Mutation H174Y deleterious(0.01) 2874 | 19 1220428 A G STK11 Missense_Mutation H174R deleterious(0) 2875 | 19 1220428 A T STK11 Missense_Mutation H174L deleterious(0) 2876 | 19 1220443 C A STK11 Missense_Mutation P179Q deleterious(0) 2877 | 19 1220443 C G STK11 Missense_Mutation P179R deleterious(0) 2878 | 19 1220443 C T STK11 Missense_Mutation P179L deleterious(0) 2879 | 19 1220448 A T STK11 Missense_Mutation N181Y deleterious(0) 2880 | 19 1220449 A C STK11 Missense_Mutation N181T deleterious(0) 2881 | 19 1220449 A G STK11 Missense_Mutation N181S deleterious(0) 2882 | 19 1220449 A T STK11 Missense_Mutation N181I deleterious(0) 2883 | 19 1220487 G A STK11 Missense_Mutation D194N deleterious(0) 2884 | 19 1220487 G C STK11 Missense_Mutation D194H deleterious(0) 2885 | 19 1220487 G T STK11 Missense_Mutation D194Y deleterious(0) 2886 | 19 1220488 A G STK11 Missense_Mutation D194G deleterious(0) 2887 | 19 1220488 A T STK11 Missense_Mutation D194V deleterious(0) 2888 | 19 1220493 G C STK11 Missense_Mutation G196R deleterious(0) 2889 | 19 1220494 G T STK11 Missense_Mutation G196V deleterious(0) 2890 | 19 1220629 C T STK11 Missense_Mutation S216F deleterious(0) 2891 | 19 1220640 C T STK11 Nonsense_Mutation Q220* "" 2892 | 19 1220641 A C STK11 Missense_Mutation Q220P deleterious(0) 2893 | 19 1220643 C T STK11 Missense_Mutation P221S tolerated(0.07) 2894 | 19 1220644 C T STK11 Missense_Mutation P221L deleterious(0) 2895 | 19 1220649 G A STK11 Missense_Mutation E223K deleterious(0) 2896 | 19 1220649 G T STK11 Nonsense_Mutation E223* "" 2897 | 19 1220650 A T STK11 Missense_Mutation E223V deleterious(0) 2898 | 19 1220698 G C STK11 Missense_Mutation W239S deleterious(0) 2899 | 19 1220699 G A STK11 Nonsense_Mutation W239* "" 2900 | 19 1220699 G T STK11 Missense_Mutation W239C deleterious(0) 2901 | 19 1220706 G A STK11 Missense_Mutation G242R deleterious(0) 2902 | 19 1220706 G T STK11 Missense_Mutation G242W deleterious(0) 2903 | 19 1220707 G T STK11 Missense_Mutation G242V deleterious(0) 2904 | 19 1221228 G C STK11 Missense_Mutation G251R deleterious(0) 2905 | 19 1221228 G T STK11 Missense_Mutation G251C deleterious(0) 2906 | 19 1221229 G T STK11 Missense_Mutation G251V deleterious(0) 2907 | 19 1222986 G T STK11 Missense_Mutation W308L deleterious(0) 2908 | 19 1222987 G A STK11 Nonsense_Mutation W308* "" 2909 | 19 1222987 G T STK11 Missense_Mutation W308C deleterious(0) 2910 | 19 1612366 A C TCF3 Missense_Mutation N551K deleterious(0) 2911 | 19 3115012 C T GNA11 Missense_Mutation R183C deleterious(0) 2912 | 19 3115013 G A GNA11 Missense_Mutation R183H deleterious(0) 2913 | 19 3118942 A C GNA11 Missense_Mutation Q209P deleterious(0) 2914 | 19 3118942 A T GNA11 Missense_Mutation Q209L deleterious(0) 2915 | 19 3118943 G T GNA11 Missense_Mutation Q209H deleterious(0) 2916 | 19 4117549 A T MAP2K2 Missense_Mutation F57L tolerated(0.06) 2917 | 19 4117551 A C MAP2K2 Missense_Mutation F57V deleterious(0.01) 2918 | 19 4117551 A G MAP2K2 Missense_Mutation F57L tolerated(0.06) 2919 | 19 5214591 C T PTPRS Missense_Mutation R1492Q deleterious(0) 2920 | 19 5214592 G A PTPRS Missense_Mutation R1492W deleterious(0) 2921 | 19 10267124 C T DNMT1 Missense_Mutation E432K tolerated(0.14) 2922 | 19 10291528 C T DNMT1 Missense_Mutation E51K tolerated_low_confidence(0.11) 2923 | 19 10597401 C A KEAP1 Missense_Mutation R601L deleterious(0.02) 2924 | 19 10597402 G A KEAP1 Missense_Mutation R601W deleterious(0) 2925 | 19 10600416 C A KEAP1 Missense_Mutation G480V deleterious(0) 2926 | 19 10600417 C A KEAP1 Missense_Mutation G480W deleterious(0) 2927 | 19 10600446 C T KEAP1 Missense_Mutation R470H tolerated(0.05) 2928 | 19 10600447 G A KEAP1 Missense_Mutation R470C deleterious(0.01) 2929 | 19 10600447 G T KEAP1 Missense_Mutation R470S tolerated(0.1) 2930 | 19 10602328 C A KEAP1 Missense_Mutation G417V deleterious(0) 2931 | 19 10602328 C T KEAP1 Missense_Mutation G417E deleterious(0) 2932 | 19 10602329 C A KEAP1 Missense_Mutation G417W deleterious(0) 2933 | 19 10602329 C T KEAP1 Missense_Mutation G417R deleterious(0) 2934 | 19 10602580 CC AA KEAP1 Missense_Mutation G333F deleterious(0) 2935 | 19 10602581 C A KEAP1 Missense_Mutation G333C deleterious(0) 2936 | 19 10602581 C T KEAP1 Missense_Mutation G333S deleterious(0) 2937 | 19 10602619 C A KEAP1 Missense_Mutation R320L deleterious(0) 2938 | 19 10602619 C G KEAP1 Missense_Mutation R320P deleterious(0.04) 2939 | 19 10602619 C T KEAP1 Missense_Mutation R320Q deleterious(0) 2940 | 19 10602619 CG AT KEAP1 Missense_Mutation R320M deleterious(0) 2941 | 19 10602620 G A KEAP1 Missense_Mutation R320W deleterious(0) 2942 | 19 10602763 C A KEAP1 Missense_Mutation R272L deleterious(0) 2943 | 19 10602763 C G KEAP1 Missense_Mutation R272P deleterious(0) 2944 | 19 10602763 C T KEAP1 Missense_Mutation R272H tolerated(0.19) 2945 | 19 10602764 G A KEAP1 Missense_Mutation R272C deleterious(0) 2946 | 19 10602799 C A KEAP1 Missense_Mutation R260L deleterious(0) 2947 | 19 10602799 C T KEAP1 Missense_Mutation R260Q deleterious(0) 2948 | 19 10602800 G A KEAP1 Nonsense_Mutation R260* "" 2949 | 19 10610246 A G KEAP1 Missense_Mutation V155A deleterious(0) 2950 | 19 10610247 C A KEAP1 Missense_Mutation V155F deleterious(0.01) 2951 | 19 10610380 C T KEAP1 Missense_Mutation M110I deleterious(0) 2952 | 19 10610382 T C KEAP1 Missense_Mutation M110V deleterious(0) 2953 | 19 11106926 AGA - SMARCA4 DEL K546del LoF 2954 | 19 11123691 A G SMARCA4 Missense_Mutation M781V "" 2955 | 19 11123691 A T SMARCA4 Missense_Mutation M781L "" 2956 | 19 11123693 G C SMARCA4 Missense_Mutation M781I "" 2957 | 19 11129655 G A SMARCA4 Missense_Mutation E821K "" 2958 | 19 11129657 G T SMARCA4 Missense_Mutation E821D "" 2959 | 19 11132512 A G SMARCA4 Missense_Mutation T910A "" 2960 | 19 11132513 C G SMARCA4 Missense_Mutation T910R "" 2961 | 19 11132513 C T SMARCA4 Missense_Mutation T910M "" 2962 | 19 11134251 C T SMARCA4 Missense_Mutation R973W "" 2963 | 19 11134252 G A SMARCA4 Missense_Mutation R973Q "" 2964 | 19 11141426 C T SMARCA4 Missense_Mutation R1135W "" 2965 | 19 11141427 G A SMARCA4 Missense_Mutation R1135Q "" 2966 | 19 11141492 C T SMARCA4 Missense_Mutation R1157W "" 2967 | 19 11141493 G A SMARCA4 Missense_Mutation R1157Q "" 2968 | 19 11143984 C G SMARCA4 Missense_Mutation R1189G "" 2969 | 19 11143984 C T SMARCA4 Nonsense_Mutation R1189* "" 2970 | 19 11143985 G A SMARCA4 Missense_Mutation R1189Q "" 2971 | 19 11143985 G T SMARCA4 Missense_Mutation R1189L "" 2972 | 19 11143993 C T SMARCA4 Missense_Mutation R1192C "" 2973 | 19 11143994 G A SMARCA4 Missense_Mutation R1192H "" 2974 | 19 11143994 G C SMARCA4 Missense_Mutation R1192P "" 2975 | 19 11144113 G A SMARCA4 Missense_Mutation G1232S "" 2976 | 19 11144113 G T SMARCA4 Missense_Mutation G1232C "" 2977 | 19 11144114 G A SMARCA4 Missense_Mutation G1232D "" 2978 | 19 11144114 G T SMARCA4 Missense_Mutation G1232V "" 2979 | 19 11144146 C G SMARCA4 Missense_Mutation R1243G "" 2980 | 19 11144146 C T SMARCA4 Missense_Mutation R1243W "" 2981 | 19 11144147 G C SMARCA4 Missense_Mutation R1243P "" 2982 | 19 11144147 G T SMARCA4 Missense_Mutation R1243L "" 2983 | 19 15350809 G C BRD4 Missense_Mutation P1065R "" 2984 | 19 18273784 G A PIK3R2 Missense_Mutation G373R deleterious(0) 2985 | 19 18278049 G A PIK3R2 Missense_Mutation D557N deleterious(0) 2986 | 19 18278049 G C PIK3R2 Missense_Mutation D557H deleterious(0) 2987 | 19 18278049 G T PIK3R2 Missense_Mutation D557Y deleterious(0) 2988 | 19 18278050 A G PIK3R2 Missense_Mutation D557G deleterious(0) 2989 | 19 19261535 T C MEF2B Missense_Mutation K4E deleterious(0) 2990 | 19 33792390 - CGGGTTCTGCTT CEBPA INS N307_E309delinsK LoF 2991 | 19 33792395 - CCA CEBPA INS N307_E309delinsK LoF 2992 | 19 40761100 - ATGACTGTGGTCCACTGCAGGCAGCGT AKT2 INS C60_I75dup LoF 2993 | 19 40761115 - TGCAGGCAGCGTATGACAAAGGTGTTGGCG AKT2 INS C60_I75dup LoF 2994 | 19 40761117 - CAGGCAGCGTATGACAAAGGTGTTGGGTCGCGGCCT AKT2 INS C60_I75dup LoF 2995 | 19 40761126 - TATGACAAAGGTGTTGGGTCGCGGCCTCTCGGTCTTCATCAGCTGGCA AKT2 INS C60_I75dup LoF 2996 | 19 41743882 G C AXL Missense_Mutation A273P tolerated(0.27) 2997 | 19 41743883 C T AXL Missense_Mutation A273V tolerated(0.29) 2998 | 19 42791715 C T CIC Missense_Mutation R201W "" 2999 | 19 42791718 C T CIC Missense_Mutation R202W "" 3000 | 19 42791719 G A CIC Missense_Mutation R202Q "" 3001 | 19 42791721 C G CIC Missense_Mutation P203A "" 3002 | 19 42791721 C T CIC Missense_Mutation P203S "" 3003 | 19 42791722 C T CIC Missense_Mutation P203L "" 3004 | 19 42791728 A G CIC Missense_Mutation N205S "" 3005 | 19 42791757 C T CIC Missense_Mutation R215W "" 3006 | 19 42791758 G A CIC Missense_Mutation R215Q "" 3007 | 19 42791805 A G CIC Missense_Mutation S231G "" 3008 | 19 42791806 G A CIC Missense_Mutation S231N "" 3009 | 19 42791806 G T CIC Missense_Mutation S231I "" 3010 | 19 42791826 T A CIC Missense_Mutation W238R "" 3011 | 19 42791828 G A CIC Nonsense_Mutation W238* "" 3012 | 19 42799050 C A CIC Missense_Mutation R1512S "" 3013 | 19 42799050 C T CIC Missense_Mutation R1512C "" 3014 | 19 42799051 G A CIC Missense_Mutation R1512H "" 3015 | 19 42799051 G T CIC Missense_Mutation R1512L "" 3016 | 19 42799059 C T CIC Missense_Mutation R1515C "" 3017 | 19 42799060 G A CIC Missense_Mutation R1515H "" 3018 | 19 45856345 G T ERCC2 Missense_Mutation D609E deleterious(0) 3019 | 19 45856346 T C ERCC2 Missense_Mutation D609G deleterious(0) 3020 | 19 45856355 T C ERCC2 Missense_Mutation E606G deleterious(0) 3021 | 19 45856356 C G ERCC2 Missense_Mutation E606Q deleterious(0) 3022 | 19 45860556 G A ERCC2 Missense_Mutation T484M deleterious(0) 3023 | 19 45860557 T C ERCC2 Missense_Mutation T484A deleterious(0.01) 3024 | 19 45860619 G A ERCC2 Missense_Mutation P463L deleterious(0.01) 3025 | 19 45860619 G T ERCC2 Missense_Mutation P463Q deleterious(0) 3026 | 19 45860620 G A ERCC2 Missense_Mutation P463S deleterious(0) 3027 | 19 45867570 GG AA ERCC2 Missense_Mutation S246F deleterious(0) 3028 | 19 45867571 G A ERCC2 Missense_Mutation S246F deleterious(0) 3029 | 19 45867571 G T ERCC2 Missense_Mutation S246Y deleterious(0) 3030 | 19 45867687 T C ERCC2 Missense_Mutation N238S deleterious(0) 3031 | 19 45872219 T C ERCC2 Missense_Mutation Y72C deleterious(0) 3032 | 19 45873425 T C ERCC2 Missense_Mutation Y24C deleterious(0) 3033 | 19 45873455 T C ERCC2 Missense_Mutation Y14C deleterious(0) 3034 | 19 52715971 C G PPP2R1A Missense_Mutation P179R deleterious(0) 3035 | 19 52715971 C T PPP2R1A Missense_Mutation P179L deleterious(0.02) 3036 | 19 52715979 C T PPP2R1A Missense_Mutation R182W deleterious(0) 3037 | 19 52715982 C G PPP2R1A Missense_Mutation R183G deleterious(0) 3038 | 19 52715982 C T PPP2R1A Missense_Mutation R183W deleterious(0) 3039 | 19 52715983 G A PPP2R1A Missense_Mutation R183Q deleterious(0) 3040 | 19 52716323 C A PPP2R1A Missense_Mutation S256Y deleterious(0) 3041 | 19 52716323 C T PPP2R1A Missense_Mutation S256F deleterious(0) 3042 | 20 9561263 C T PAK7 Missense_Mutation M173I tolerated(0.4) 3043 | 20 31376690 G A DNMT3B Missense_Mutation V229M deleterious(0.01) 3044 | 20 31376690 G T DNMT3B Missense_Mutation V229L deleterious(0.02) 3045 | 20 40944418 A C PTPRT Missense_Mutation L695R deleterious(0) 3046 | 20 40944419 G A PTPRT Missense_Mutation L695F deleterious(0.01) 3047 | 20 40944500 A C PTPRT Missense_Mutation L668V deleterious(0) 3048 | 20 40980843 T C PTPRT Missense_Mutation E548G deleterious(0.01) 3049 | 20 40980844 C T PTPRT Missense_Mutation E548K tolerated(0.08) 3050 | 20 41306568 C T PTPRT Missense_Mutation R364Q deleterious(0) 3051 | 20 41306569 G A PTPRT Nonsense_Mutation R364* "" 3052 | 20 46252809 C T NCOA3 Missense_Mutation R80C deleterious(0.01) 3053 | 20 46252810 G A NCOA3 Missense_Mutation R80H deleterious(0) 3054 | 20 57480483 C T GNAS Missense_Mutation R160C tolerated(0.1) 3055 | 20 57480484 G A GNAS Missense_Mutation R160H tolerated(0.14) 3056 | 20 57480484 G C GNAS Missense_Mutation R160P deleterious(0.05) 3057 | 20 57484420 C A GNAS Missense_Mutation R201S deleterious(0.03) 3058 | 20 57484420 C T GNAS Missense_Mutation R201C deleterious(0.02) 3059 | 20 57484421 G A GNAS Missense_Mutation R201H deleterious(0.04) 3060 | 20 57484421 G T GNAS Missense_Mutation R201L deleterious(0) 3061 | 20 57484595 C A GNAS Missense_Mutation Q227K deleterious(0.01) 3062 | 20 57484596 A T GNAS Missense_Mutation Q227L tolerated(0.27) 3063 | 20 57484597 G T GNAS Missense_Mutation Q227H deleterious(0) 3064 | 21 36231782 C T RUNX1 Missense_Mutation R201Q tolerated(0.05) 3065 | 21 36231783 G A RUNX1 Nonsense_Mutation R201* "" 3066 | 21 36231783 G C RUNX1 Missense_Mutation R201G deleterious(0) 3067 | 21 36252876 C A RUNX1 Missense_Mutation R162S deleterious(0) 3068 | 21 36252877 C T RUNX1 Missense_Mutation R162K deleterious(0) 3069 | 21 36252878 T C RUNX1 Missense_Mutation R162G deleterious(0) 3070 | 21 44513281 - CCG U2AF1 INS G222_G223del LoF 3071 | 21 44513282 CCACCG - U2AF1 DEL G222_G223del LoF 3072 | 21 44513300 CCA - U2AF1 DEL G222_G223del LoF 3073 | 21 44514777 T C U2AF1 Missense_Mutation Q157R deleterious(0) 3074 | 21 44514777 T G U2AF1 Missense_Mutation Q157P deleterious(0) 3075 | 21 44524456 G A U2AF1 Missense_Mutation S34F deleterious(0) 3076 | 21 44524456 G T U2AF1 Missense_Mutation S34Y deleterious(0) 3077 | 21 44524486 A G U2AF1 Missense_Mutation I24T deleterious(0.03) 3078 | 21 44524487 T C U2AF1 Missense_Mutation I24V deleterious(0.02) 3079 | 22 22127163 T G MAPK1 Missense_Mutation E322A deleterious(0) 3080 | 22 22127164 C A MAPK1 Nonsense_Mutation E322* "" 3081 | 22 22127164 C T MAPK1 Missense_Mutation E322K deleterious(0) 3082 | 22 24175857 AGA - SMARCB1 DEL K364del LoF 3083 | 22 24176329 C T SMARCB1 Missense_Mutation R374W deleterious(0) 3084 | 22 24176330 G A SMARCB1 Missense_Mutation R374Q deleterious(0.01) 3085 | 22 24176338 C T SMARCB1 Missense_Mutation R377C deleterious(0) 3086 | 22 24176339 G A SMARCB1 Missense_Mutation R377H deleterious(0) 3087 | 22 24176339 G T SMARCB1 Missense_Mutation R377L deleterious(0) 3088 | 22 29092947 C T CHEK2 Missense_Mutation R346H deleterious(0) 3089 | 22 29092948 G A CHEK2 Missense_Mutation R346C deleterious(0) 3090 | 22 29092948 G C CHEK2 Missense_Mutation R346G deleterious(0) 3091 | 22 29092948 G T CHEK2 Missense_Mutation R346S deleterious(0) 3092 | 22 41525969 T C EP300 Missense_Mutation L415P "" 3093 | 22 41553402 G A EP300 Missense_Mutation C1164Y "" 3094 | 22 41553402 G C EP300 Missense_Mutation C1164S "" 3095 | 22 41565529 G A EP300 Missense_Mutation D1399N "" 3096 | 22 41565529 G T EP300 Missense_Mutation D1399Y "" 3097 | 22 41565531 T A EP300 Missense_Mutation D1399E "" 3098 | 22 41565574 T G EP300 Missense_Mutation Y1414D "" 3099 | 22 41565575 A G EP300 Missense_Mutation Y1414C "" 3100 | 22 41566475 A C EP300 Missense_Mutation H1451P "" 3101 | 22 41566475 A G EP300 Missense_Mutation H1451R "" 3102 | 22 41566475 A T EP300 Missense_Mutation H1451L "" 3103 | 22 41566476 T A EP300 Missense_Mutation H1451Q "" 3104 | 22 41566487 A G EP300 Missense_Mutation Q1455R "" 3105 | 22 41566488 G C EP300 Missense_Mutation Q1455H "" 3106 | 22 41566519 T C EP300 Missense_Mutation W1466R "" 3107 | 22 41566519 T G EP300 Missense_Mutation W1466G "" 3108 | 22 41566520 G A EP300 Nonsense_Mutation W1466* "" 3109 | 22 41566520 G T EP300 Missense_Mutation W1466L "" 3110 | 22 41566521 G C EP300 Missense_Mutation W1466C "" 3111 | 22 41566522 T A EP300 Missense_Mutation Y1467N "" 3112 | 22 41566522 T C EP300 Missense_Mutation Y1467H "" 3113 | 22 41566522 T G EP300 Missense_Mutation Y1467D "" 3114 | 22 41566522 TAC AAA EP300 Missense_Mutation Y1467K "" 3115 | 22 41566523 A C EP300 Missense_Mutation Y1467S "" 3116 | 22 41566523 A G EP300 Missense_Mutation Y1467C "" 3117 | X 1321372 G A CRLF2 Missense_Mutation S128L tolerated(0.7) 3118 | X 20156713 C A EIF1AX Missense_Mutation G15V deleterious(0) 3119 | X 20156713 C T EIF1AX Missense_Mutation G15D deleterious(0) 3120 | X 20156719 C A EIF1AX Missense_Mutation R13L deleterious(0) 3121 | X 20156719 C G EIF1AX Missense_Mutation R13P deleterious(0) 3122 | X 20156719 C T EIF1AX Missense_Mutation R13H tolerated(0.08) 3123 | X 20156720 G A EIF1AX Missense_Mutation R13C deleterious(0.04) 3124 | X 20156720 G C EIF1AX Missense_Mutation R13G deleterious(0.02) 3125 | X 20156728 T G EIF1AX Missense_Mutation K10T deleterious(0) 3126 | X 20156729 T C EIF1AX Missense_Mutation K10E deleterious(0) 3127 | X 20156731 C A EIF1AX Missense_Mutation G9V deleterious(0) 3128 | X 20156731 C T EIF1AX Missense_Mutation G9D deleterious(0) 3129 | X 20156732 C G EIF1AX Missense_Mutation G9R tolerated(0.09) 3130 | X 20156734 C T EIF1AX Missense_Mutation G8E tolerated(0.06) 3131 | X 20156735 C T EIF1AX Missense_Mutation G8R deleterious(0.03) 3132 | X 20156740 C T EIF1AX Missense_Mutation G6D deleterious(0.01) 3133 | X 20159743 C A EIF1AX Missense_Mutation G6C deleterious(0) 3134 | X 20159743 C G EIF1AX Missense_Mutation G6R deleterious(0.01) 3135 | X 20159743 C T EIF1AX Missense_Mutation G6S deleterious(0.03) 3136 | X 20159748 T A EIF1AX Missense_Mutation N4I deleterious(0.02) 3137 | X 20159748 T C EIF1AX Missense_Mutation N4S tolerated(0.07) 3138 | X 20159749 T A EIF1AX Missense_Mutation N4Y deleterious(0) 3139 | X 20159753 GG AA EIF1AX Missense_Mutation P2L deleterious(0) 3140 | X 20159754 G A EIF1AX Missense_Mutation P2L deleterious(0) 3141 | X 20159755 G A EIF1AX Missense_Mutation P2S deleterious(0.01) 3142 | X 39921444 T C BCOR Missense_Mutation N1459S deleterious(0) 3143 | X 44922715 GG TA KDM6A Nonsense_Mutation G526* "" 3144 | X 44922716 G A KDM6A Missense_Mutation G526E deleterious(0) 3145 | X 44922716 GG TA KDM6A Missense_Mutation G526V deleterious(0) 3146 | X 44922802 C T KDM6A Nonsense_Mutation Q555* "" 3147 | X 44938459 C T KDM6A Nonsense_Mutation Q1003* "" 3148 | X 44938460 A C KDM6A Missense_Mutation Q1003P deleterious(0) 3149 | X 47038526 C G RBM10 Missense_Mutation R153G deleterious(0) 3150 | X 47038526 C T RBM10 Nonsense_Mutation R153* "" 3151 | X 47426120 T C ARAF Missense_Mutation S214P deleterious(0.01) 3152 | X 47426120 T G ARAF Missense_Mutation S214A deleterious(0.01) 3153 | X 47426121 C A ARAF Missense_Mutation S214Y deleterious(0) 3154 | X 47426121 C G ARAF Missense_Mutation S214C deleterious(0) 3155 | X 47426121 C T ARAF Missense_Mutation S214F deleterious(0) 3156 | X 47426127 C G ARAF Missense_Mutation P216R deleterious(0) 3157 | X 47426127 C T ARAF Missense_Mutation P216L deleterious(0) 3158 | X 66931463 T A AR Missense_Mutation L702H deleterious(0) 3159 | X 66937371 G T AR Missense_Mutation W742L deleterious(0.01) 3160 | X 66937372 G T AR Missense_Mutation W742C deleterious(0) 3161 | X 66943543 C T AR Missense_Mutation H875Y deleterious(0.01) 3162 | X 66943552 A G AR Missense_Mutation T878A deleterious(0.04) 3163 | X 66943553 C G AR Missense_Mutation T878S tolerated(0.08) 3164 | X 70339243 TGTAAAACAAGGTTTCAATAACCAGCCTGCTGTCTC - MED12 DEL G44_F45del LoF 3165 | X 70339247 AAACAAGGTTTCAAT - MED12 DEL G44_F45del LoF 3166 | X 70339253 G A MED12 Missense_Mutation G44S "" 3167 | X 70339253 G T MED12 Missense_Mutation G44C "" 3168 | X 70339253 GGTTTC - MED12 DEL G44_F45del LoF 3169 | X 70339254 G A MED12 Missense_Mutation G44D "" 3170 | X 70339254 G C MED12 Missense_Mutation G44A "" 3171 | X 70339254 G T MED12 Missense_Mutation G44V "" 3172 | X 70339258 CAATAACCAGCCTGCTGTCTC - MED12 DEL G44_F45del LoF 3173 | X 70339266 AGCCTGCTGTCTCTGGGGATG - MED12 DEL G44_F45del LoF 3174 | X 70349255 G C MED12 Missense_Mutation V1223L "" 3175 | X 70349257 TC GT MED12 Missense_Mutation L1224F "" 3176 | X 70349258 C G MED12 Missense_Mutation L1224V "" 3177 | X 70349258 C T MED12 Missense_Mutation L1224F "" 3178 | X 76909629 G A ATRX Nonsense_Mutation R1426* "" 3179 | X 76938029 G A ATRX Nonsense_Mutation R907* "" 3180 | X 123179197 C T STAG2 Nonsense_Mutation R216* "" 3181 | X 123179198 G A STAG2 Missense_Mutation R216Q deleterious(0) 3182 | -------------------------------------------------------------------------------- /src/somaticfreq.c: -------------------------------------------------------------------------------- 1 | #include 2 | #include 3 | #include 4 | #include 5 | #include 6 | #include 7 | #include 8 | #include 9 | #include 10 | 11 | #define PBSTR "||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||" 12 | #define PBWIDTH 60 13 | 14 | void is_bam(char *fname); 15 | void printhead(FILE *fn, char *bam_fn); 16 | void printrow(FILE *fn, char *chrom, char *start, char *ref, char *alt, char *gene, char *vc, char *pc, char *cosid, float vaf, float counts[]); 17 | void printargtbl(FILE *fn, int mapq, char *bam, int tot_var, int som_vars, float vaf, int cov, float doc, int treads); 18 | void printfooter(FILE *fn); 19 | char *basename(char const *path); 20 | char *removeExt(char* myStr); 21 | int countlines(char *filename); 22 | void printProgress(double percentage, int done, int tot); 23 | 24 | char *VERSION = "0.1.0"; 25 | 26 | void usage(); 27 | 28 | int main (int argc, char **argv){ 29 | 30 | int d = 30; 31 | int t = 8; 32 | char *fafile = NULL; 33 | char *op = NULL; 34 | int c; 35 | char *bedfile = NULL; 36 | char *bam = NULL; 37 | float v = 0.05; 38 | int nloci = 0; 39 | 40 | 41 | uint32_t q = 10; //BAM default MAPQ 42 | uint16_t F = 1024; //BAM default FLAG 43 | int vars_gt = 1; //No. of BED entries 44 | int som_vars = 0; //vars with somatic evidance 45 | float mean_doc = 0.0; //mean depth of coverage 46 | int novaf = 0; //entries for which VAF could not be estimated 47 | 48 | opterr = 0; 49 | hts_verbose = 0; //suppresses htslib warnings 50 | 51 | //Parse cl args 52 | while ((c = getopt (argc, argv, "q:f:F:t:d:v:o:")) != -1){ 53 | switch (c) 54 | { 55 | case 'q': 56 | q = atoi(optarg); 57 | break; 58 | case 'f': 59 | fafile = optarg; 60 | break; 61 | case 'd': 62 | d = atoi(optarg); 63 | break; 64 | case 'o': 65 | op = optarg; 66 | break; 67 | case 'v': 68 | v = atof(optarg); 69 | break; 70 | case 'F': 71 | F = atoi(optarg); 72 | break; 73 | case 't': 74 | t = atoi(optarg); 75 | break; 76 | case '?': 77 | if (optopt == 'm'){ 78 | fprintf (stderr, "MAPQ must be provided when -%c is specified.\n", optopt); 79 | usage(); 80 | } 81 | if (optopt == 'v'){ 82 | fprintf (stderr, "VAF must be provided when -%c is specified.\n", optopt); 83 | usage(); 84 | } 85 | if (optopt == 'F'){ 86 | fprintf (stderr, "FLAG must be provided when -%c is specified.\n", optopt); 87 | usage(); 88 | } 89 | 90 | if (optopt == 'f'){ 91 | usage(); 92 | fprintf (stderr, "Input fasta file must provided when -%c is specified.\n", optopt); 93 | } else if (isprint (optopt)){ 94 | fprintf (stderr, "Unknown option `-%c'.\n", optopt); 95 | usage(); 96 | }else{ 97 | fprintf (stderr, "Unknown option character `\\x%x'.\n", optopt); 98 | usage(); 99 | } 100 | 101 | return 1; 102 | default: 103 | abort (); 104 | } 105 | } 106 | 107 | bedfile = argv[optind]; 108 | if(bedfile == NULL){ 109 | usage(); 110 | fprintf(stderr, "Missing loci file!\n"); 111 | return 0; 112 | } 113 | bam = argv[optind+1]; 114 | if(bam == NULL){ 115 | usage(); 116 | fprintf(stderr, "Missing BAM file!\n"); 117 | return 0; 118 | } 119 | 120 | is_bam(bam); //Check the file extension to to figure out BAM file or not 121 | 122 | //Output files 123 | char html_file[1000]; 124 | char tsv_file[1000]; 125 | char *bn = basename(bam); //get basename of the file 126 | char *bnn = removeExt(bn); //remove extension from the basename 127 | if(op == NULL){ 128 | strcpy(html_file, bnn); 129 | strcat(html_file, ".html"); 130 | strcpy(tsv_file, bnn); 131 | strcat(tsv_file, ".tsv"); 132 | }else{ 133 | strcpy(html_file, op); 134 | strcat(html_file, ".html"); 135 | strcpy(tsv_file, op); 136 | strcat(tsv_file, ".tsv"); 137 | } 138 | 139 | //Open bed file 140 | FILE *bed_fp; 141 | nloci = countlines(bedfile); 142 | bed_fp = fopen(bedfile, "r"); 143 | char buff[1000]; 144 | 145 | //Open HTML report file and print HTML header 146 | FILE *html_fp; 147 | html_fp = fopen(html_file, "w" ); 148 | printhead(html_fp, bnn); 149 | 150 | //Open TSV report file and print HTML header 151 | FILE *tsv_fp; 152 | tsv_fp = fopen(tsv_file, "w" ); 153 | fprintf(tsv_fp, "loci\tfa_ref\tNT_change\tHugo_Symbol\tVariant_Classification\tAA_change\tMeta\tVAF\tA\tT\tG\tC\tIns\tDel\n"); 154 | 155 | //fasta file 156 | char *seq; 157 | faidx_t *fa = fai_load(fafile); 158 | 159 | //BAM file 160 | samFile *fp_in = hts_open(bam,"r"); //open bam file 161 | hts_idx_t *fp_idx = sam_index_load(fp_in, bam); 162 | bam_hdr_t *bamHdr = sam_hdr_read(fp_in); //read header 163 | bam1_t *aln = bam_init1(); //initialize an alignment 164 | 165 | fprintf(stderr, "Input BAM file : %s\n", bam); 166 | fprintf(stderr, "Variants : %s\n", bedfile); 167 | fprintf(stderr, "VAF filter : %.3f\n", v); 168 | fprintf(stderr, "min reads for t_allele : %d\n", t); 169 | fprintf(stderr, "MAPQ filter : %d\n", q); 170 | fprintf(stderr, "FLAG filter : %d\n", F); 171 | fprintf(stderr, "Coverage filter : %d\n", d); 172 | fprintf(stderr, "HTSlib version : %s\n\n", hts_version()); 173 | 174 | //For every loci in the BED file 175 | while(fgets(buff,1000,bed_fp) != NULL){ 176 | 177 | //Remove trailing new line chars 178 | int len = strlen(buff); 179 | if(buff[len-1] == '\n' ){ 180 | buff[len-1] = 0; 181 | } 182 | 183 | char *chrom = strtok(buff,"\t"); 184 | char *start = strtok(NULL,"\t"); 185 | char *ref = strtok(NULL,"\t"); 186 | char *alt = strtok(NULL,"\t"); 187 | char *gene = strtok(NULL,"\t"); 188 | char *vc = strtok(NULL,"\t"); 189 | char *pc = strtok(NULL,"\t"); 190 | char *cosid = strtok(NULL,"\t"); 191 | 192 | char loci[250] = ""; 193 | strcat(loci, chrom); strcat(loci, ":"); strcat(loci, start); strcat(loci, "-"); strcat(loci, start); 194 | 195 | //Fetch base at target loci from fasta file 196 | if(fa != NULL){ 197 | int templen = 100; 198 | seq = fai_fetch(fa, loci, &templen); 199 | fprintf(tsv_fp, "%s:%s\t%s\t%s>%s\t%s\t%s\t%s\t%s", chrom, start, seq, ref, alt, gene, vc, pc, cosid); 200 | free(seq); 201 | }else{ 202 | fprintf(tsv_fp, "%s:%s\tNA\t%s>%s\t%s\t%s\t%s\t%s", chrom, start, ref, alt, gene, vc, pc, cosid); 203 | } 204 | 205 | int32_t target_pos = atoi(start) -1; //input position are 1 based 206 | 207 | //load reads in target loci 208 | hts_itr_t *samitr = sam_itr_querys(fp_idx, bamHdr, loci); 209 | 210 | //Keep track of total reads and nt counts per loci 211 | int32_t tot_reads = 0; 212 | float nt[6] = {0.0, 0.0, 0.0, 0.0, 0.0, 0.0}; 213 | 214 | printProgress(vars_gt/(double)nloci, vars_gt, nloci); 215 | vars_gt = vars_gt + 1; 216 | 217 | /*if(vars_gt % 1000 == 0){ 218 | fprintf(stderr, "Processed %d entries..\n", vars_gt); 219 | }*/ 220 | 221 | //For every read in the BAM file of target region 222 | while(sam_itr_next(fp_in, samitr, aln) > 0){ 223 | 224 | int32_t pos = aln->core.pos ; //left most position of alignment in zero based coordianate (0-based) 225 | uint32_t len = aln->core.l_qseq; //length of the read. 226 | uint32_t* cig = bam_get_cigar(aln); 227 | uint8_t *qs = bam_get_seq(aln); //quality string 228 | //char *chr = bamHdr->target_name[aln->core.tid] ; //contig name (chromosome) 229 | //uint16_t samflag = aln->core.flag; // flag 230 | //uint32_t q2 = aln->core.qual ; //mapping quality 231 | 232 | 233 | //MAPQ and FLAG filter 234 | if(aln->core.qual <= q){ 235 | continue; 236 | } 237 | 238 | if(aln->core.flag >= F){ 239 | continue; 240 | } 241 | 242 | tot_reads = tot_reads +1; 243 | //char ins_seq[100]; char del_seq[100]; 244 | 245 | //get nucleotide id and converts them into IUPAC id. 246 | char *qseq = (char *)malloc(len); 247 | int i = 0; 248 | for(i=0; i< len ; i++){ 249 | qseq[i] = seq_nt16_str[bam_seqi(qs,i)]; 250 | } 251 | 252 | //target position on the read 253 | int32_t pos_onread = 0; 254 | 255 | //For every CIGAR string 256 | int k = 0; 257 | for(k=0;k< aln->core.n_cigar ;++k){ 258 | int cop =cig[k] & BAM_CIGAR_MASK; // CIGAR string 259 | int cl = cig[k] >> BAM_CIGAR_SHIFT; // CIGAR length 260 | 261 | if(BAM_CIGAR_STR[cop] == 'M'){ 262 | pos_onread = pos_onread + cl; 263 | pos = pos + cl; 264 | }else if(BAM_CIGAR_STR[cop] == 'S'){ 265 | pos_onread = pos_onread + cl; 266 | }else if(BAM_CIGAR_STR[cop] == 'I'){ 267 | pos_onread = pos_onread + cl; 268 | }else if(BAM_CIGAR_STR[cop] == 'D'){ 269 | pos = pos + cl; 270 | } 271 | 272 | if(pos > target_pos){ 273 | if(BAM_CIGAR_STR[cop] == 'M'){ 274 | pos_onread = pos_onread - (pos - target_pos); 275 | if(qseq[pos_onread] == 'A'){ 276 | nt[0] = nt[0] + 1; 277 | }else if(qseq[pos_onread] == 'T'){ 278 | nt[1] = nt[1] + 1; 279 | }else if(qseq[pos_onread] == 'G'){ 280 | nt[2] = nt[2] + 1; 281 | }else if(qseq[pos_onread] == 'C'){ 282 | nt[3] = nt[3] + 1; 283 | } 284 | break; 285 | } 286 | }else if(pos == target_pos){ 287 | if(BAM_CIGAR_STR[cop] == 'I'){ 288 | nt[4] = nt[4] + 1; 289 | // insertion sequence 290 | // for(int i = 0; i < cl; i++){ 291 | // //strcat(ins_seq, &qseq[pos_onread+i]); 292 | // } 293 | break; 294 | }else if(BAM_CIGAR_STR[cop] == 'D'){ 295 | nt[5] = nt[5] + 1; 296 | // deletion sequence 297 | // for(int i = 0; i < cl; i++){ 298 | // strcat(del_seq, qseq[pos_onread+i]); 299 | // } 300 | break; 301 | } 302 | } 303 | } 304 | 305 | free(qseq); 306 | } 307 | 308 | int pass_treads = 1; //Tumor supporting reads 309 | float vaf = 0.0; 310 | if(strcmp(vc, "INS") == 0){ 311 | if(nt[4] < t){ 312 | pass_treads = 0; 313 | } 314 | vaf = nt[4]/tot_reads; 315 | }else if(strcmp(vc, "DEL") == 0){ 316 | if(nt[5] < t){ 317 | pass_treads = 0; 318 | } 319 | vaf = nt[5]/tot_reads; 320 | }else{ 321 | if(strcmp(alt, "A") == 0 && strcmp(ref, "-") != 0){ 322 | if(nt[0] < t){ 323 | pass_treads = 0; 324 | } 325 | vaf = nt[0]/tot_reads; 326 | }else if(strcmp(alt, "T") == 0 && strcmp(ref, "-") != 0){ 327 | if(nt[1] < t){ 328 | pass_treads = 0; 329 | } 330 | vaf = nt[1]/tot_reads; 331 | }else if(strcmp(alt, "G") == 0 && strcmp(ref, "-") != 0){ 332 | if(nt[2] < t){ 333 | pass_treads = 0; 334 | } 335 | vaf = nt[2]/tot_reads; 336 | }else if(strcmp(alt, "C") == 0 && strcmp(ref, "-") != 0){ 337 | if(nt[3] < t){ 338 | pass_treads = 0; 339 | } 340 | vaf = nt[3]/tot_reads; 341 | }else{ 342 | vaf = -1; 343 | novaf = novaf + 1; 344 | } 345 | 346 | } 347 | 348 | 349 | mean_doc = mean_doc + tot_reads; 350 | 351 | hts_itr_destroy(samitr); 352 | fprintf(tsv_fp, "\t%.3f\t%.f\t%.f\t%.f\t%.f\t%.f\t%.f\n", vaf, nt[0], nt[1], nt[2], nt[3], nt[4], nt[5]); 353 | //write nt counts as table row 354 | if(!isnan(vaf)){ 355 | //fprintf(stderr, "%s\t%s\t%.3f\n", ref, alt, vaf); 356 | if(vaf >= v && tot_reads > d && pass_treads == 1){ 357 | som_vars = som_vars + 1; 358 | printrow(html_fp, chrom, start, ref, alt, gene, vc, pc, cosid, vaf, nt); 359 | } 360 | } 361 | } 362 | 363 | mean_doc = mean_doc/vars_gt; 364 | //Close all open connections and destroy objects 365 | printargtbl(html_fp, q, bn, vars_gt, som_vars, v, d, mean_doc, t); 366 | printfooter(html_fp); 367 | bam_destroy1(aln); 368 | bam_hdr_destroy(bamHdr); 369 | fai_destroy(fa); 370 | sam_close(fp_in); 371 | fclose(bed_fp); 372 | fclose(html_fp); 373 | fclose(tsv_fp); 374 | 375 | free(bn); 376 | free(bnn); 377 | 378 | fprintf(stderr, "Done!\n\n"); 379 | fprintf(stderr, "Summary:\n"); 380 | fprintf(stderr, "Total variants processed : %d\n", vars_gt); 381 | fprintf(stderr, "Variants > %.2f threshold: %d\n", v, som_vars); 382 | fprintf(stderr, "Avg. depth of coverage : %.2f\n", mean_doc); 383 | fprintf(stderr, "Output html report : %s\n", html_file); 384 | fprintf(stderr, "Output TSV file : %s\n", tsv_file); 385 | 386 | if(novaf > 0){ 387 | fprintf(stderr, "Could not estimate VAF for %d variants. VAF has been set to -1 in %s.\nManually inspect them in IGV.\n", novaf, tsv_file); 388 | } 389 | 390 | return 0; 391 | } 392 | 393 | void is_bam(char *fname){ 394 | int l = strlen(fname); 395 | if (l>=4 && strcasecmp(fname+l-4, ".bam") != 0){ 396 | usage(); 397 | fprintf(stderr, "%s is not a BAM file!\n", fname); 398 | exit(0); 399 | }else if(l<4){ 400 | fprintf(stderr, "%s is not a BAM file!\n", fname); 401 | usage(); 402 | exit(0); 403 | } 404 | } 405 | 406 | //from: https://stackoverflow.com/questions/3288006/are-there-any-c-apis-to-extract-the-base-file-name-from-its-full-path-in-linux 407 | char *basename(char const *path){ 408 | char *s = strrchr(path, '/'); 409 | if (!s){ 410 | return strdup(path); 411 | }else{ 412 | return strdup(s + 1); 413 | } 414 | } 415 | 416 | //from: https://stackoverflow.com/questions/2736753/how-to-remove-extension-from-file-name 417 | char *removeExt(char* myStr) { 418 | char *retStr; 419 | char *lastExt; 420 | if (myStr == NULL) return NULL; 421 | if ((retStr = malloc (strlen (myStr) + 1)) == NULL) return NULL; 422 | strcpy (retStr, myStr); 423 | lastExt = strrchr (retStr, '.'); 424 | if (lastExt != NULL) 425 | *lastExt = '\0'; 426 | return retStr; 427 | } 428 | 429 | void printhead(FILE *fn, char *bam_fn){ 430 | fprintf(fn , "\n"); 431 | fprintf(fn, ""); 432 | 433 | fprintf(fn, "\n"); 434 | fprintf(fn, "\n"); 435 | fprintf(fn, "\n"); 436 | fprintf(fn , "%s | somatic variants\n", bam_fn); 437 | fprintf(fn, "\n"); 438 | fprintf(fn, "\n"); 439 | fprintf(fn, "\n"); 440 | fprintf(fn, "\n"); 453 | fprintf(fn, "\n"); 457 | fprintf(fn, "\n"); 458 | 459 | 460 | //fprintf(fn, "

somaticfreq report

"); 461 | fprintf(fn, "

somaticfreq report

"); 462 | 463 | time_t t = time(NULL); 464 | struct tm cutime = *localtime(&t); 465 | fprintf(fn, "\n"); 466 | fprintf(fn, "", cutime.tm_year + 1900, cutime.tm_mon + 1, cutime.tm_mday, cutime.tm_hour, cutime.tm_min, cutime.tm_sec); 467 | fprintf(fn, "", bam_fn); 468 | fprintf(fn, "
Date%d-%02d-%02d %02d:%02d:%02d
Sample%s
\n"); 469 | 470 | fprintf(fn, "

\n

\n"); 471 | fprintf(fn, "

\n

\n"); 472 | fprintf(fn, "

\n

\n"); 473 | 474 | fprintf(fn, "\n"); 475 | fprintf(fn, "\n"); 476 | fprintf(fn, "\n"); 477 | } 478 | 479 | void printargtbl(FILE *fn, int mapq, char *bam, int tot_var, int som_vars, float vaf, int cov, float doc, int treads){ 480 | fprintf(fn, "
ChrPosRefAltGeneTypeAA changeMetaVAFATGCInsDel
\n"); //end previous table before printing summary 481 | fprintf(fn, "

Summary

"); 482 | fprintf(fn, "\n"); 483 | fprintf(fn, "", bam); 484 | fprintf(fn, "", tot_var); 485 | fprintf(fn, "", som_vars, vaf); 486 | fprintf(fn, "", doc); 487 | fprintf(fn, "", mapq); 488 | fprintf(fn, "", cov); 489 | fprintf(fn, "", vaf); 490 | fprintf(fn, "", treads); 491 | fprintf(fn, "
BAM%s
Variants queried%d
Variants with somatic evidance%d [VAF > %.2f]
Avg. depth of coverage%.2f
MAPQ filter%d
Coverage filter%d
VAF filter%.2f
Min. number of reads supporting tumor allele %d
\n"); 492 | fprintf(fn, "\n"); 493 | fprintf(fn, "\n"); 494 | fprintf(fn, "\n"); 495 | 496 | } 497 | 498 | void printrow(FILE *fn, char *chrom, char *start, char *ref, char *alt, char *gene, char *vc, char *pc, char *cosid, float vaf, float counts[]){ 499 | fprintf(fn, "%s%s%s%s %s%s%s%s%.3f%.f%.f%.f%.f%.f%.f\n", 500 | chrom, start, ref, alt, gene, gene, vc, pc, cosid, vaf, counts[0], counts[1], counts[2], counts[3], counts[4], counts[5]); 501 | } 502 | 503 | void printfooter(FILE *fn){ 504 | fprintf(fn, "

\n

\n"); 505 | fprintf(fn, "
\n"); 506 | fprintf(fn, "Generated by somaticfreq %s", VERSION); 507 | fprintf(fn, "
"); 508 | } 509 | 510 | void usage(){ 511 | fprintf(stderr, "-------------------------------------------------------------------------\n"); 512 | fprintf(stderr, "somaticfreq: A tool to extract nucleotide counts/variant allele frequencies\n"); 513 | fprintf(stderr, " of targeted (somatic) variants from the BAM file. Version: %s\n", VERSION); 514 | fprintf(stderr, "USAGE:\n"); 515 | fprintf(stderr, " somaticfreq [OPTIONS] \n"); 516 | fprintf(stderr, " e.g; somaticfreq cancer_hotspots_GRCh37.tsv Tumor.bam\n"); 517 | fprintf(stderr, "OPTIONS:\n"); 518 | fprintf(stderr, " -f Indexed fasta file. If provided, extracts and adds reference base to the ouput tsv\n"); 519 | fprintf(stderr, " -q Min. mapping quality threshold. Default 10 [Read filter]\n"); 520 | fprintf(stderr, " -F Exclude reads with FLAGS >= INT. Default 1024 (i.e, read is PCR or optical duplicate) [Read filter]\n"); 521 | fprintf(stderr, " -v VAF threshold. Default 0.05 [Variant filter]\n"); 522 | fprintf(stderr, " -d Depth of coverage threshold. Default 30 [Variant filter]\n"); 523 | fprintf(stderr, " -t Min. number of reads supporting tumor allele . Default 8 [Variant filter]\n"); 524 | fprintf(stderr, " -o Output file basename. Default parses from basename of BAM file\n"); 525 | fprintf(stderr, "ARGS:\n"); 526 | fprintf(stderr, " variant file\n"); 527 | fprintf(stderr, " Indexed BAM file\n"); 528 | fprintf(stderr, "OUPUT:\n"); 529 | fprintf(stderr, " .html A browsable html report of variants post filtering\n"); 530 | fprintf(stderr, " .tsv TSV file with nucletide counts and VAF for all variants\n"); 531 | fprintf(stderr, "-------------------------------------------------------------------------\n"); 532 | } 533 | 534 | int countlines(char *filename){ 535 | // count the number of lines in the file called filename 536 | FILE *fp = fopen(filename,"r"); 537 | int ch=0; 538 | int lines=0; 539 | 540 | if (fp == NULL){ 541 | return 0; 542 | } 543 | 544 | while(!feof(fp)){ 545 | ch = fgetc(fp); 546 | if(ch == '\n'){ 547 | lines++; 548 | } 549 | } 550 | fclose(fp); 551 | return lines; 552 | } 553 | 554 | // Progress bar modified from: https://stackoverflow.com/a/36315819 555 | void printProgress(double percentage, int done, int tot) { 556 | int val = (int) (percentage * 100); 557 | int lpad = (int) (percentage * PBWIDTH); 558 | int rpad = PBWIDTH - lpad; 559 | fprintf(stderr, "\r%3d%% [%.*s%*s] %d/%d", val, lpad, PBSTR, rpad, "", done, tot); 560 | fflush(stdout); 561 | } 562 | --------------------------------------------------------------------------------