Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID transcript_name strand transcript_status amino_acid_change ucsc_cons normal_depth normal_vaf tumor_depth tumor_vaf rna_depth rna_vaf polyphen sift condel domain TEKT2 27285 genome.wustl.edu 37 1 36553096 36553096 + Silent SNP G G T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_014466.2 +1 reviewed p.L304 0.993 67 0% 41 61% 3 100% - - - HMMPfam_Tektin COL9A2 1298 genome.wustl.edu 37 1 40766972 40766972 + Missense_Mutation SNP C C T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_001852.3 -1 reviewed p.R651Q 0.146 18 0% 21 28.6% 52 13.4% probably_damaging(0.998) tolerated(0.16) deleterious(0.534) HMMPfam_Collagen DOCK7 85440 genome.wustl.edu 37 1 62962100 62962100 + Missense_Mutation SNP A A T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_033407.2 -1 validated p.F1580L 1.000 218 0% 270 31.5% 13 46.1% probably_damaging(0.974) deleterious(0.03) deleterious(0.780) NULL SLC44A5 204962 genome.wustl.edu 37 1 75683549 75683549 + Splice_Site SNP A A T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_152697.4 -1 validated e17+2 1.000 167 0% 235 14.9% 0 - - - - - GCLM 2730 genome.wustl.edu 37 1 94354618 94354618 + Silent SNP C C T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_002061.2 -1 reviewed p.S251 0.000 183 0.5% 202 11.4% 56 21.4% - - - superfamily_NAD(P)-linked oxidoreductase LCE2B 26239 genome.wustl.edu 37 1 152659555 152659555 + Missense_Mutation SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_014357.4 +1 reviewed p.R79H 0.000 130 0% 110 47.3% 0 - unknown(0) - - NULL AXDND1 126859 genome.wustl.edu 37 1 179461992 179461992 + Missense_Mutation SNP G G T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_144696.4 +1 validated p.C765F 1.000 290 0% 333 11.4% 0 - unknown(0) tolerated(0.06) - NULL ASPM 259266 genome.wustl.edu 37 1 197115334 197115334 + Silent SNP C C T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_018136.4 -1 reviewed p.K78 0.000 53 0% 60 11.7% 2 0% - - - NULL H3F3A 3020 genome.wustl.edu 37 1 226253376 226253376 + Missense_Mutation SNP C C T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_002107.3 +1 reviewed p.R50C 1.000 430 0% 509 11% 686 17.7% probably_damaging(0.984) - - HMMSmart_SM00428,superfamily_Histone-fold TRIM67 440730 genome.wustl.edu 37 1 231335933 231335933 + Missense_Mutation SNP C C T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_001004342.3 +1 validated p.R435C 1.000 111 0% 183 13.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00502 OR2B11 127623 genome.wustl.edu 37 1 247615234 247615234 + Missense_Mutation SNP G G C novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_001004492.1 -1 provisional p.I17M 0.999 330 0% 473 12.1% 0 - possibly_damaging(0.807) deleterious(0.01) deleterious(0.710) superfamily_SSF81321 PSME4 23198 genome.wustl.edu 37 2 54114420 54114420 + Missense_Mutation SNP G G T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_014614.2 -1 validated p.Q1569K 1.000 620 0% 585 17.6% 66 27.2% benign(0.001) tolerated(1) - superfamily_ARM repeat TTL 150465 genome.wustl.edu 37 2 113240044 113240044 + Silent SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_153712.4 +1 validated p.L41 1.000 24 0% 25 44% 7 42.8% - - - NULL XIRP2 129446 genome.wustl.edu 37 2 168105569 168105569 + Missense_Mutation SNP A A C novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_152381.4 +1 validated p.E2556A 1.000 132 0% 127 12.6% 0 - probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL VIL1 7429 genome.wustl.edu 37 2 219294067 219294067 + Silent SNP C C T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_007127.2 +1 reviewed p.G209 0.024 42 0% 64 26.6% 0 - - - - HMMSmart_GEL,HMMPfam_Gelsolin,superfamily_SSF55753 SCN5A 6331 genome.wustl.edu 37 3 38646358 38646358 + Silent SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_001099404.1 -1 reviewed p.S460 0.999 310 0% 342 39.8% 0 - - - - NULL CAMKV 79012 genome.wustl.edu 37 3 49898377 49898377 + Missense_Mutation SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d ENST00000480398 -1 known p.P123L 1.000 143 0% 157 24.2% 0 - unknown(0) deleterious(0) - NULL DNAH12 201625 genome.wustl.edu 37 3 57325992 57325992 + Missense_Mutation SNP A A C novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d ENST00000295941 -1 known p.L2494V 0.889 698 0% 714 35.9% 0 - probably_damaging(0.969) tolerated(0.2) neutral(0.460) NULL ZBTB38 253461 genome.wustl.edu 37 3 141161969 141161969 + Missense_Mutation SNP A A G novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_001080412.2 +1 validated p.N247D 0.000 89 0% 213 11.7% 8 37.5% benign(0) tolerated(0.36) neutral(0.020) NULL FETUB 26998 genome.wustl.edu 37 3 186369007 186369007 + Missense_Mutation SNP C C T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_014375.2 +1 reviewed p.P233S 0.997 373 0% 696 13.1% 1 0% probably_damaging(0.999) tolerated(0.21) deleterious(0.534) HMMPfam_Cystatin,HMMSmart_SM00043,superfamily_Cystatin/monellin MFSD7 84179 genome.wustl.edu 37 4 678562 678562 + Silent SNP G G C novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_032219.2 -1 provisional p.P223 0.908 23 0% 22 22.7% 7 0% - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter EVC2 132884 genome.wustl.edu 37 4 5699372 5699372 + Missense_Mutation SNP G G T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_147127.4 -1 reviewed p.D77E 0.848 237 0.4% 389 11.6% 1 0% possibly_damaging(0.792) deleterious(0) deleterious(0.742) NULL OCIAD1 54940 genome.wustl.edu 37 4 48851966 48851966 + Missense_Mutation SNP G G C novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_001079839.2 +1 validated p.A82P 1.000 220 0% 124 33.1% 101 46.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_OCIA LPHN3 23284 genome.wustl.edu 37 4 62936210 62936210 + Missense_Mutation SNP C C A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_015236.4 +1 reviewed p.P1332T 1.000 120 0% 193 11.4% 2 50% possibly_damaging(0.666) deleterious(0.03) deleterious(0.601) HMMPfam_Latrophilin SMR3A 26952 genome.wustl.edu 37 4 71227877 71227877 + Frame_Shift_Del DEL G G - rs62322478 byCluster;byFrequency;by1000genomes TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_012390.3 +1 validated p.C16fs 0.006 - - - - - - - - - NULL SOWAHB 345079 genome.wustl.edu 37 4 77818892 77818892 + Silent SNP G G C novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_001029870.1 -1 provisional p.P37 0.441 13 0% 19 47.4% 5 60% - - - NULL TLL1 7092 genome.wustl.edu 37 4 166913994 166913994 + Missense_Mutation SNP G G T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_012464.3 +1 reviewed p.A107S 1.000 547 0.2% 557 24.8% 1 0% benign(0.002) tolerated(0.76) neutral(0.001) NULL ODZ3 55714 genome.wustl.edu 37 4 183268060 183268060 + Missense_Mutation SNP A A C novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_001080477.1 +1 provisional p.E163D 0.601 227 0% 315 20.6% 0 - benign(0.001) tolerated(0.22) neutral(0.042) HMMPfam_Ten_N HELT 391723 genome.wustl.edu 37 4 185941786 185941786 + Missense_Mutation SNP C C T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_001029887.1 +1 provisional p.P282S 0.996 12 0% 21 23.8% 0 - probably_damaging(0.962) tolerated(0.54) neutral(0.413) NULL FAT1 2195 genome.wustl.edu 37 4 187541252 187541252 + Missense_Mutation SNP G G T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_005245.3 -1 reviewed p.A2163D 0.927 133 0% 163 35% 0 - possibly_damaging(0.845) deleterious(0.01) deleterious(0.730) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like OSMR 9180 genome.wustl.edu 37 5 38876369 38876369 + Missense_Mutation SNP G G T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_003999.2 +1 reviewed p.S47I 0.000 342 0% 664 22.6% 32 28.1% benign(0.125) tolerated(0.06) neutral(0.333) NULL PIK3R1 5295 genome.wustl.edu 37 5 67591124 67591129 + In_Frame_Del DEL CTGAGA CTGAGA - novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 CTGAGA CTGAGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_181523.1 +1 reviewed p.LR573in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL FAM151B 167555 genome.wustl.edu 37 5 79815573 79815573 + Missense_Mutation SNP C C T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_205548.1 +1 predicted p.P127S 0.999 284 0% 313 59.4% 7 85.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF2181 VCAN 1462 genome.wustl.edu 37 5 82815962 82815962 + Missense_Mutation SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_004385.4 +1 reviewed p.D613N 0.001 193 0% 160 16.3% 2 0% possibly_damaging(0.703) tolerated(0.06) deleterious(0.575) NULL KDM3B 51780 genome.wustl.edu 37 5 137722306 137722306 + Missense_Mutation SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_016604.3 +1 validated p.G459E 1.000 89 0% 95 48.4% 5 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DIAPH1 1729 genome.wustl.edu 37 5 140953568 140953568 + Missense_Mutation SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_005219.4 -1 reviewed p.P617S 0.199 57 0% 63 36.5% 12 75% unknown(0) deleterious(0) - HMMPfam_Drf_FH1 FOXF2 2295 genome.wustl.edu 37 6 1395086 1395086 + Missense_Mutation SNP G G A rs181428616 by1000genomes TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_001452.1 +1 reviewed p.V443I 1.000 320 0.3% 286 16.8% 0 - probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL MLIP 90523 genome.wustl.edu 37 6 53989384 53989384 + Silent SNP C C T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_138569.2 +1 validated p.F111 0.002 154 0% 190 13.7% 1 0% - - - NULL ZBTB24 9841 genome.wustl.edu 37 6 109798047 109798047 + Missense_Mutation SNP C C T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_014797.2 -1 validated p.E347K 1.000 87 0% 116 30.2% 7 28.5% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) superfamily_C2H2 and C2HC zinc fingers LAMA2 3908 genome.wustl.edu 37 6 129748968 129748968 + Silent SNP C C T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_000426.3 +1 reviewed p.N1979 0.998 320 0.3% 447 11.6% 0 - - - - superfamily_ConA_like_lec_gl MEOX2 4223 genome.wustl.edu 37 7 15725798 15725800 + In_Frame_Del DEL TGG TGG - rs138506557 byCluster;by1000genomes TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 TGG TGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_005924.4 -1 reviewed p.H80in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL DFNA5 1687 genome.wustl.edu 37 7 24789339 24789339 + Missense_Mutation SNP G G T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_001127453.1 -1 reviewed p.L19M 0.452 241 0.8% 225 16% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Gasdermin GLI3 2737 genome.wustl.edu 37 7 42004043 42004043 + Missense_Mutation SNP G G C novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_000168.5 -1 reviewed p.A1543G 0.415 232 0% 311 11.9% 1 0% probably_damaging(0.982) tolerated(0.22) neutral(0.468) NULL POM121L12 285877 genome.wustl.edu 37 7 53103605 53103605 + Missense_Mutation SNP C C T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_182595.3 +1 validated p.R81W 0.000 7 0.000 15 0.333 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL PION 54103 genome.wustl.edu 37 7 76941497 76941497 + Missense_Mutation SNP C C A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_017439.3 -1 validated p.R765I 0.000 252 0% 274 50.4% 6 66.6% probably_damaging(0.964) tolerated(0.25) neutral(0.443) NULL GNB2 2783 genome.wustl.edu 37 7 100274423 100274424 + Splice_Site DEL GT GT - rs138290543 by1000genomes TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_005273.3 +1 reviewed e3+1 1.000:1.000 - - - - - - - - - - MUC17 140453 genome.wustl.edu 37 7 100681610 100681610 + Missense_Mutation SNP G G T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_001040105.1 +1 provisional p.D2305Y 0.013 346 0% 514 47.9% 0 - unknown(0) - - NULL ARHGEF5 7984 genome.wustl.edu 37 7 144075925 144075925 + Silent SNP C C T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d ENST00000474817 +1 known p.P734L 0.013 205 0% 259 16.2% 26 26.9% - - - HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 ZNF786 136051 genome.wustl.edu 37 7 148768385 148768385 + Missense_Mutation SNP C C A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_152411.3 -1 validated p.E493D 0.000 34 0% 39 53.8% 8 87.5% benign(0.097) tolerated(0.15) neutral(0.248) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SSPO 23145 genome.wustl.edu 37 7 149488980 149488980 + Missense_Mutation SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d ENST00000378016 +1 known p.R1774Q 0.923 27 0% 12 33.3% 0 - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat NRG1 3084 genome.wustl.edu 37 8 32621448 32621448 + Missense_Mutation SNP C C A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_013956.3 +1 reviewed p.P489Q 0.889 115 0% 124 49.2% 1 0% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_Neuregulin ASH2L 9070 genome.wustl.edu 37 8 37996551 37996551 + Missense_Mutation SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_004674.3 +1 validated p.E617K 1.000 172 0% 367 44.4% 57 3.5% benign(0.036) tolerated(0.08) neutral(0.302) NULL SLC20A2 6575 genome.wustl.edu 37 8 42294897 42294897 + Missense_Mutation SNP C C T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_006749.3 -1 provisional p.R378Q 0.318 114 0.9% 84 13.1% 16 56.2% possibly_damaging(0.859) deleterious(0.02) deleterious(0.715) HMMPfam_PHO4 PRDM14 63978 genome.wustl.edu 37 8 70981465 70981465 + Missense_Mutation SNP G G T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_024504.2 -1 validated p.P211T 0.002 76 0% 107 18.7% 0 - benign(0.071) deleterious(0.01) neutral(0.411) NULL PAPPA 5069 genome.wustl.edu 37 9 119097222 119097222 + Silent SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_002581.3 +1 reviewed p.Q1160 1.000 50 0% 45 28.9% 0 - - - - superfamily_SSF55486 CACNB2 783 genome.wustl.edu 37 10 18807318 18807318 + Silent SNP A A G novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_201596.2 +1 reviewed p.L286 0.975 138 0% 222 26.1% 0 - - - - HMMPfam_Ca_channel_B,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases ANKRD30A 91074 genome.wustl.edu 37 10 37421200 37421200 + Silent SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_052997.2 +1 validated p.T125 0.000 272 0% 341 11.1% 0 - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat PTEN 5728 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G T rs121913292 TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d ENST00000371953 +1 known p.R130L 1.000 353 0% 387 31.3% 39 71.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II OR51E2 81285 genome.wustl.edu 37 11 4703452 4703452 + Missense_Mutation SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_030774.3 -1 validated p.R164W 0.002 44 0% 48 18.8% 0 - benign(0.265) deleterious(0.01) neutral(0.433) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like DNHD1 144132 genome.wustl.edu 37 11 6567732 6567732 + Silent SNP C C T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_144666.2 +1 provisional p.L1855 0.913 37 0% 45 11.1% 1 0% - - - NULL CAPRIN1 4076 genome.wustl.edu 37 11 34118080 34118080 + Missense_Mutation SNP A A G novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_005898.4 +1 validated p.H587R 1.000 146 0% 99 24.2% 151 51.6% probably_damaging(0.995) tolerated(0.12) deleterious(0.718) NULL ELF5 2001 genome.wustl.edu 37 11 34515199 34515199 + Missense_Mutation SNP T T A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_198381.1 -1 reviewed p.E71V 1.000 105 0% 125 27.2% 12 66.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_SAM/Pointed domain TTC17 55761 genome.wustl.edu 37 11 43400813 43400813 + Missense_Mutation SNP C C G novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_018259.5 +1 validated p.H64D 1.000 137 0% 115 37.4% 4 75% probably_damaging(0.991) tolerated(0.3) deleterious(0.473) NULL OR8K1 390157 genome.wustl.edu 37 11 56114229 56114229 + Missense_Mutation SNP G G T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_001002907.1 +1 provisional p.G239W 0.400 273 0% 360 31.4% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_7tm_1,superfamily_SSF81321 CCDC82 79780 genome.wustl.edu 37 11 96104265 96104265 + Missense_Mutation SNP A A G novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_024725.3 -1 validated p.L374P 1.000 261 0% 272 31.2% 5 40% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL FOXR1 283150 genome.wustl.edu 37 11 118851328 118851328 + Missense_Mutation SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_181721.2 +1 reviewed p.R247Q 0.978 61 0% 68 22.1% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Fork_head,HMMSmart_FH,superfamily_SSF46785 TECTA 7007 genome.wustl.edu 37 11 120989338 120989338 + Missense_Mutation SNP G G T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_005422.2 +1 reviewed p.G372C 0.920 87 0% 101 23.8% 0 - probably_damaging(0.978) tolerated(0.05) deleterious(0.766) HMMPfam_VWD,HMMSmart_SM00216 CPNE8 144402 genome.wustl.edu 37 12 39064600 39064600 + Missense_Mutation SNP C C T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_153634.2 -1 reviewed p.M479I 1.000 490 0% 463 11.4% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_VWA,superfamily_SSF53300 ZFC3H1 196441 genome.wustl.edu 37 12 72030803 72030803 + Silent SNP A A G novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_144982.4 -1 validated p.L588 0.997 394 0% 326 32.2% 1 100% - - - NULL MYO1H 283446 genome.wustl.edu 37 12 109872858 109872858 + Missense_Mutation SNP C C T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_001101421.3 +1 provisional p.R688C 1.000 521 0% 379 20.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases VPS33A 65082 genome.wustl.edu 37 12 122726975 122726975 + Silent SNP C C T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_022916.4 -1 validated p.S350 0.005 240 0% 253 20.6% 19 36.8% - - - HMMPfam_Sec1,superfamily_Sec1-like PSPC1 55269 genome.wustl.edu 37 13 20346552 20346552 + Silent SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_001042414.1 -1 validated p.S168 1.000 175 0% 193 45.1% 41 82.9% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD BRCA2 675 genome.wustl.edu 37 13 32911020 32911020 + Missense_Mutation SNP C C T rs80358517 TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_000059.3 +1 reviewed p.A843V 0.000 147 0% 136 15.4% 0 - benign(0.007) tolerated(0.45) neutral(0.012) NULL CDADC1 81602 genome.wustl.edu 37 13 49842027 49842027 + Missense_Mutation SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_030911.2 +1 validated p.D278N 1.000 177 0% 191 13.1% 3 33.3% benign(0.023) tolerated(0.3) neutral(0.030) NULL SLITRK1 114798 genome.wustl.edu 37 13 84454931 84454931 + Nonsense_Mutation SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_052910.1 -1 reviewed p.R238* 0.952 158 0% 114 43.9% 0 - - - - HMMSmart_LRRCT,superfamily_SSF52058 C14orf135 64430 genome.wustl.edu 37 14 60591771 60591771 + Missense_Mutation SNP T T C novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_022495.5 +1 validated p.I727T 1.000 336 0% 299 45.2% 2 100% possibly_damaging(0.84) deleterious(0) deleterious(0.766) NULL DDX24 57062 genome.wustl.edu 37 14 94526677 94526677 + Silent SNP C C T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_020414.3 -1 reviewed p.V560 0.996 383 0.3% 406 44.1% 58 82.7% - - - superfamily_SSF52540 MTMR10 54893 genome.wustl.edu 37 15 31251070 31251070 + Nonsense_Mutation SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_017762.2 -1 validated p.Q311* 1.000 174 0% 159 23.3% 5 0% - - - HMMPfam_Myotub-related,superfamily_(Phosphotyrosine protein) phosphatases II TRIM69 140691 genome.wustl.edu 37 15 45051858 45051858 + Silent SNP T T C novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_182985.3 +1 reviewed p.H278 0.294 332 0% 353 34.3% 4 50% - - - NULL DMXL2 23312 genome.wustl.edu 37 15 51792233 51792233 + Missense_Mutation SNP C C G novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_015263.3 -1 validated p.S1063T 1.000 305 0% 320 12.8% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMC7 79905 genome.wustl.edu 37 16 19034458 19034458 + Missense_Mutation SNP G G T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_024847.3 +1 validated p.V218L 0.003 405 0% 397 48.1% 1 100% benign(0) tolerated(0.39) neutral(0.016) NULL ENSG00000214581 0 genome.wustl.edu 37 16 34681749 34681749 + Silent SNP A A T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d ENST00000398617 -1 known p.P32 0.120 21 0% 21 28.6% 0 - - - - NULL LONP2 83752 genome.wustl.edu 37 16 48330006 48330006 + Missense_Mutation SNP A A G novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_031490.2 +1 provisional p.I488M 0.939 410 0% 429 33.6% 44 47.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540 ASGR2 433 genome.wustl.edu 37 17 7012178 7012178 + Missense_Mutation SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_001181.3 -1 reviewed p.R52C 0.956 84 0% 58 48.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lectin_N TP53 7157 genome.wustl.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_000546.4 -1 reviewed p.R282W 0.997 218 0% 207 54.1% 77 93.5% probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_p53-like transcription factors,HMMPfam_P53 DHRS7C 201140 genome.wustl.edu 37 17 9674904 9674904 + Silent SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_001105571.1 -1 validated p.P279 1.000 129 0% 105 21% 0 - - - - superfamily_NAD(P)-binding Rossmann-fold domains SUZ12 23512 genome.wustl.edu 37 17 30300205 30300205 + Silent SNP T T C novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_015355.2 +1 reviewed p.V182 1.000 304 0% 222 13.5% 11 27.2% - - - NULL MYOM1 8736 genome.wustl.edu 37 18 3100422 3100422 + Missense_Mutation SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_003803.3 -1 reviewed p.T1193M 1.000 185 0% 224 14.7% 0 - probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin DSC2 1824 genome.wustl.edu 37 18 28672233 28672233 + Missense_Mutation SNP T T C novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_024422.3 -1 reviewed p.N62S 0.029 195 0% 209 13.9% 9 33.3% benign(0.001) tolerated(1) - HMMPfam_Cadherin_pro,superfamily_Cadherin-like PHLPP1 23239 genome.wustl.edu 37 18 60562320 60562320 + Missense_Mutation SNP A A G novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_194449.2 +1 validated p.T203A 1.000 155 0% 155 18.1% 2 100% benign(0.355) tolerated(0.18) neutral(0.169) HMMSmart_SM00364,superfamily_L domain-like CDH7 1005 genome.wustl.edu 37 18 63511153 63511153 + Missense_Mutation SNP A A T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_004361.2 +1 reviewed p.T363S 0.570 255 0.4% 249 17.3% 0 - benign(0.006) tolerated(0.17) neutral(0.059) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like MKNK2 2872 genome.wustl.edu 37 19 2041047 2041047 + Missense_Mutation SNP C C T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_199054.2 -1 validated p.V368I 1.000 63 0% 86 15.1% 924 30.9% possibly_damaging(0.749) tolerated(0.62) neutral(0.279) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DNM2 1785 genome.wustl.edu 37 19 10906062 10906062 + Silent SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_001005360.1 +1 reviewed p.E381 1.000 146 0% 167 16.8% 69 30.4% - - - HMMPfam_Dynamin_M ENSG00000105520 0 genome.wustl.edu 37 19 11475235 11475235 + Missense_Mutation SNP C C T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d ENST00000427915 +1 known p.R385C 0.539 34 0% 38 34.2% 20 40% - - - NULL KCNN1 3780 genome.wustl.edu 37 19 18100534 18100534 + Missense_Mutation SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_002248.3 +1 reviewed p.A394T 0.998 285 0% 226 24.8% 1 100% benign(0.057) tolerated(0.16) neutral(0.063) HMMPfam_CaMBD,superfamily_Small-conductance potassium channel,superfamily_Voltage-gated potassium channels ZNF254 9534 genome.wustl.edu 37 19 24288743 24288743 + Missense_Mutation SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_203282.2 +1 validated p.G11E 0.671 435 0% 453 19.6% 2 50% benign(0.085) tolerated(0.17) neutral(0.065) superfamily_KRAB domain (Kruppel-associated box Pfam 01352) LGI4 163175 genome.wustl.edu 37 19 35622891 35622891 + Missense_Mutation SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_139284.2 -1 validated p.R124C 0.953 259 0.4% 313 20.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00369,superfamily_L domain-like KPTN 11133 genome.wustl.edu 37 19 47983624 47983624 + Silent SNP G G T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_007059.2 -1 validated p.R214 0.883 34 0% 42 42.9% 20 85% - - - NULL SIGLEC8 27181 genome.wustl.edu 37 19 51961440 51961440 + Missense_Mutation SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_014442.2 -1 validated p.R68W 0.221 289 0% 258 29.5% 0 - benign(0.001) deleterious(0.01) neutral(0.406) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ZNF841 284371 genome.wustl.edu 37 19 52569856 52569856 + Missense_Mutation SNP T T C novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_001136499.1 -1 validated p.K427E 1.000 268 0% 294 14.3% 8 25% possibly_damaging(0.713) deleterious(0) deleterious(0.702) superfamily_SSF57667 DYNLRB1 83658 genome.wustl.edu 37 20 33128423 33128423 + Missense_Mutation SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_014183.2 +1 reviewed p.E96K 0.996 332 0% 409 20.3% 367 30.2% probably_damaging(0.994) tolerated(0.06) deleterious(0.774) NULL COL6A1 1291 genome.wustl.edu 37 21 47404312 47404312 + Silent SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_001848.2 +1 reviewed p.A119 0.000 39 0% 24 25% 44 2.2% - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 KCTD17 79734 genome.wustl.edu 37 22 37452374 37452374 + Missense_Mutation SNP G G A novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_024681.2 +1 validated p.A112T 1.000 126 0% 188 50% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold CBX6 23466 genome.wustl.edu 37 22 39262368 39262368 + Missense_Mutation SNP A A T novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_014292.3 -1 validated p.M362K 1.000 33 0% 50 42% 14 92.8% benign(0.301) tolerated(0.11) neutral(0.365) NULL MTMR8 55613 genome.wustl.edu 37 X 63551614 63551614 + Missense_Mutation SNP G G C novel TCGA-BK-A139-01A-11D-A122-09 TCGA-BK-A139-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ed32c725-08ae-48eb-8fa2-719b9aeb7550 2ae69cba-be7f-46c3-b610-e27a48daef9d NM_017677.3 -1 reviewed p.S392C 0.992 136 0% 132 11.4% 7 42.8% possibly_damaging(0.776) deleterious(0.01) deleterious(0.695) HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II