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 CEP104 9731 genome.wustl.edu 37 1 3732040 3732040 + Missense_Mutation SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_014704.3 -1 validated p.K902E 0.005 72 0% 65 56.9% 21 76.1% possibly_damaging(0.811) tolerated(0.14) deleterious(0.555) NULL CEP104 9731 genome.wustl.edu 37 1 3740121 3740121 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000438539 -1 known p.S87L 0.000 165 0% 161 31.7% 17 29.4% - - - NULL RPL22 6146 ucsc.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T - - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_000983.3 -1 reviewed p.K15fs 1 - - - - - - - - - HMMPfam_Ribosomal_L22e CAMTA1 23261 genome.wustl.edu 37 1 7527961 7527961 + Missense_Mutation SNP G G T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_015215.1 +1 validated p.Q170H 1.000 282 0% 205 45.9% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_CG-1 CLCN6 1185 genome.wustl.edu 37 1 11879573 11879573 + Missense_Mutation SNP G G T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001286.2 +1 reviewed p.R103L 0.971 431 0% 367 44.7% 0 - possibly_damaging(0.828) deleterious(0.02) deleterious(0.697) superfamily_Clc chloride channel CTRC 11330 genome.wustl.edu 37 1 15764987 15764987 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_007272.2 +1 reviewed p.A9 0.000 99 0% 88 25% 0 - - - - NULL C1QB 713 genome.wustl.edu 37 1 22986097 22986097 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_000491.3 +1 reviewed p.D50N 0.102 51 0% 40 45% 7 0% benign(0.001) deleterious(0.01) neutral(0.406) NULL UBXN11 91544 genome.wustl.edu 37 1 26609226 26609226 + Missense_Mutation SNP C C A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_183008.2 -1 reviewed p.K402N 1.000 98 0% 81 45.7% 111 41.4% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Ubiquitin-like ARID1A 8289 genome.wustl.edu 37 1 27100120 27100120 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_006015.4 +1 reviewed p.Q1306* 1.000 106 0% 105 44.8% 6 33.3% - - - NULL CD164L2 388611 genome.wustl.edu 37 1 27706581 27706581 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_207397.2 -1 validated p.L160 0.000 87 0% 81 43.2% 5 60% - - - HMMPfam_MGC-24 FAM76A 199870 genome.wustl.edu 37 1 28071169 28071169 + Missense_Mutation SNP A A T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001143912.1 +1 validated p.D154V 1.000 247 0% 217 31.8% 4 50% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL NKAIN1 79570 genome.wustl.edu 37 1 31655387 31655387 + Missense_Mutation SNP C C A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_024522.2 -1 validated p.E130D 1.000 93 0% 103 42.7% 2 0% benign(0.09) tolerated(0.11) neutral(0.278) HMMPfam_NKAIN HDAC1 3065 genome.wustl.edu 37 1 32797831 32797833 + In_Frame_Del DEL GAG GAG - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_004964.2 +1 reviewed p.E455in_frame_del 1.000:1.000:0.967 - - - - - - - - - NULL HDAC1 3065 genome.wustl.edu 37 1 32798326 32798328 + In_Frame_Del DEL AGG AGG - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_004964.2 +1 reviewed p.E468in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL THRAP3 9967 genome.wustl.edu 37 1 36752266 36752267 + Frame_Shift_Del DEL CT CT - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_005119.3 +1 validated p.S146fs 1.000:1.000 - - - - - - - - - NULL CSF3R 1441 genome.wustl.edu 37 1 36945074 36945074 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_156039.2 -1 reviewed p.S8 0.139 90 0% 108 51.9% 0 - - - - NULL GRIK3 2899 genome.wustl.edu 37 1 37270770 37270770 + Missense_Mutation SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_000831.3 -1 reviewed p.M795V 1.000 40 0% 46 13% 0 - benign(0.161) deleterious(0) neutral(0.459) HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850,superfamily_SSF55620 NDUFS5 4725 genome.wustl.edu 37 1 39494495 39494495 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_004552.2 +1 reviewed p.C33 1.000 87 0% 122 21.3% 1263 15.5% - - - HMMPfam_Ndufs5 RLF 6018 genome.wustl.edu 37 1 40704268 40704268 + Missense_Mutation SNP T T A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_012421.3 +1 validated p.N1298K 0.968 57 0% 77 46.8% 1 0% benign(0.33) tolerated(0.59) neutral(0.108) NULL LRRC41 10489 genome.wustl.edu 37 1 46744478 46744478 + Missense_Mutation SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000254454 -1 known p.W810R 1.000 19 0% 27 48.1% 131 50.3% unknown(0) deleterious(0) - NULL ZFYVE9 9372 genome.wustl.edu 37 1 52811830 52811830 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_004799.2 +1 reviewed p.C1405 1.000 133 0% 120 41.7% 56 35.7% - - - NULL CACHD1 57685 genome.wustl.edu 37 1 65124555 65124555 + Silent SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_020925.2 +1 validated p.L599 0.994 61 0% 66 40.9% 1 0% - - - NULL PTGER3 5733 genome.wustl.edu 37 1 71512793 71512793 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_198718.1 -1 reviewed p.A156 0.985 15 0% 15 53.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 VAV3 10451 genome.wustl.edu 37 1 108292205 108292207 + In_Frame_Del DEL AAG AAG - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_006113.4 -1 reviewed p.F423in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like UBAP2L 9898 genome.wustl.edu 37 1 154242853 154242853 + Missense_Mutation SNP G G T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000310038 +1 known p.K372N 0.983 22 0% 15 53.3% 58 32.7% unknown(0) - - NULL FCRL2 79368 genome.wustl.edu 37 1 157737276 157737276 + Missense_Mutation SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_030764.3 -1 reviewed p.T303A 0.192 72 0% 59 37.3% 0 - possibly_damaging(0.886) deleterious(0.03) deleterious(0.711) superfamily_Immunoglobulin KIRREL 55243 genome.wustl.edu 37 1 158061294 158061294 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_018240.5 +1 validated p.T473 0.570 85 0% 74 45.9% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin IGSF8 93185 genome.wustl.edu 37 1 160064677 160064677 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_052868.2 -1 provisional p.G142S 1.000 44 0% 38 47.4% 25 56% benign(0.004) tolerated(0.2) neutral(0.049) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin OLFML2B 25903 genome.wustl.edu 37 1 161953860 161953860 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_015441.1 -1 provisional p.V620M 0.985 67 0% 70 40% 35 0% possibly_damaging(0.879) tolerated(0.24) neutral(0.380) HMMPfam_OLF,HMMSmart_SM00284 TDRD5 163589 genome.wustl.edu 37 1 179632591 179632591 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_173533.2 +1 provisional p.Q818* 0.896 137 0% 182 49.5% 0 - - - - NULL ENSG00000247866 0 genome.wustl.edu 37 1 180151476 180151476 + RNA SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000500066 -1 known NULL 0.000 90 0% 73 57.5% 0 - - - - - ZNF648 127665 genome.wustl.edu 37 1 182026004 182026004 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001009992.1 -1 provisional p.R381H 0.627 84 0% 58 32.8% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CRB1 23418 genome.wustl.edu 37 1 197396613 197396613 + Missense_Mutation SNP G G T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_201253.1 +1 reviewed p.D720Y 0.998 73 0% 83 37.3% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_Concanavalin A-like lectins/glucanases IPO9 55705 genome.wustl.edu 37 1 201824965 201824965 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_018085.4 +1 validated p.A342V 1.000 142 0% 172 45.3% 3 0% benign(0.009) tolerated(0.21) neutral(0.044) superfamily_ARM repeat URB2 9816 genome.wustl.edu 37 1 229773515 229773515 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_014777.2 +1 provisional p.G1052D 0.012 48 0% 51 19.6% 0 - possibly_damaging(0.614) tolerated(0.08) deleterious(0.513) NULL TRIM67 440730 genome.wustl.edu 37 1 231298873 231298873 + Missense_Mutation SNP G G A rs185070039 by1000genomes TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001004342.3 +1 validated p.R53Q 0.857 21 0% 23 47.8% 0 - benign(0.097) tolerated(0.21) neutral(0.051) HMMSmart_SM00184,superfamily_RING/U-box PCNXL2 80003 genome.wustl.edu 37 1 233372675 233372675 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_014801.3 -1 provisional p.P758 0.247 69 0% 75 33.3% 1 0% - - - NULL ZP4 57829 genome.wustl.edu 37 1 238050750 238050750 + Missense_Mutation SNP G G A rs140243550 by1000genomes TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_021186.2 -1 reviewed p.A222V 0.000 92 0% 98 16.3% 0 - benign(0) tolerated(0.25) neutral(0.037) HMMPfam_Zona_pellucida,HMMSmart_SM00241 ZP4 57829 genome.wustl.edu 37 1 238053462 238053462 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_021186.2 -1 reviewed p.L64 0.000 101 0% 122 44.3% 0 - - - - NULL OR11L1 391189 genome.wustl.edu 37 1 248004303 248004303 + Missense_Mutation SNP T T A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001001959.1 -1 provisional p.E299V 0.000 113 0% 116 37.1% 0 - benign(0.001) tolerated(0.35) neutral(0.021) superfamily_SSF81321 PGBD2 267002 genome.wustl.edu 37 1 249210872 249210872 + Missense_Mutation SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_170725.2 +1 validated p.M30T 0.802 59 0% 69 14.5% 3 0% benign(0) deleterious(0.05) neutral(0.345) NULL C2orf48 348738 genome.wustl.edu 37 2 10350626 10350626 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_182626.1 +1 predicted p.A128V 0.000 40 0% 32 37.5% 0 - unknown(0) - - NULL ABCG8 64241 genome.wustl.edu 37 2 44078856 44078856 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_022437.2 +1 reviewed p.R152 1.000 65 0% 55 41.8% 0 - - - - HMMPfam_ABC_tran,superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF638 27332 genome.wustl.edu 37 2 71650072 71650072 + Missense_Mutation SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001014972.1 +1 reviewed p.Q1143R 0.434 90 0% 74 41.9% 17 23.5% benign(0.03) deleterious(0) neutral(0.446) NULL POLR1A 25885 genome.wustl.edu 37 2 86297159 86297159 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_015425.3 -1 validated p.Q616 1.000 66 0% 68 50% 0 - - - - HMMSmart_SM00663,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase CNNM4 26504 genome.wustl.edu 37 2 97463291 97463291 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_020184.3 +1 reviewed p.R530C 0.956 27 0% 33 54.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL INPP4A 3631 genome.wustl.edu 37 2 99181149 99181149 + Missense_Mutation SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001134224.1 +1 reviewed p.L697P 1.000 55 0% 45 48.9% 1 0% possibly_damaging(0.76) tolerated(0.11) deleterious(0.552) NULL TBC1D8 11138 genome.wustl.edu 37 2 101650138 101650138 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001102426.1 -1 validated p.T547 0.000 165 0% 190 39.5% 11 36.3% - - - HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p RGPD8 727851 genome.wustl.edu 37 2 113147501 113147501 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000302558 -1 known p.Y1007 0.003 162 0% 194 37.1% 5 0% - - - NULL MYO7B 4648 genome.wustl.edu 37 2 128354115 128354115 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001080527.1 +1 provisional p.R775W 0.994 59 0% 52 48.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases HS6ST1 9394 genome.wustl.edu 37 2 129025925 129025925 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_004807.2 -1 reviewed p.D349 1.000 59 0% 50 40% 9 11.1% - - - HMMPfam_HS6ST LOC440917 440917 genome.wustl.edu 37 2 139045516 139045516 + RNA SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 XR_041289.2 -1 model NULL 0.459 171 0% 149 46.3% 0 - - - - - BAZ2B 29994 genome.wustl.edu 37 2 160206535 160206535 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_013450.2 -1 validated p.T1516M 0.991 103 0% 103 35.9% 2 50% probably_damaging(0.976) tolerated(0.18) deleterious(0.474) NULL B3GALT1 8708 genome.wustl.edu 37 2 168726420 168726420 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_020981.2 +1 reviewed p.A291T 1.000 44 0% 41 46.3% 0 - benign(0) tolerated(0.63) neutral(0.004) NULL TTN 7273 genome.wustl.edu 37 2 179591828 179591828 + Missense_Mutation SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000356127 -1 known p.V5511A 0.993 67 0% 73 37% 0 - unknown(0) - - HMMSmart_SM00409,HMMPfam_I-set SESTD1 91404 genome.wustl.edu 37 2 180008356 180008356 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_178123.4 -1 validated p.R271H 1.000 205 0% 207 43% 2 50% probably_damaging(0.999) tolerated(0.13) deleterious(0.743) NULL C2orf69 205327 genome.wustl.edu 37 2 200790024 200790024 + Silent SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_153689.5 +1 validated p.L191 1.000 118 0% 144 43.8% 0 - - - - HMMPfam_UPF0565 TMEM237 65062 genome.wustl.edu 37 2 202492869 202492869 + Silent SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001044385.1 -1 validated p.I291 0.969 101 0% 98 41.8% 15 53.3% - - - NULL ALS2 57679 genome.wustl.edu 37 2 202625720 202625720 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_020919.3 -1 reviewed p.A333T 0.001 222 0% 168 37.5% 6 50% possibly_damaging(0.767) deleterious(0.01) deleterious(0.690) NULL RAPH1 65059 genome.wustl.edu 37 2 204326612 204326612 + Missense_Mutation SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_213589.1 -1 validated p.R257G 1.000 383 0.3% 358 42.2% 1 0% possibly_damaging(0.926) deleterious(0.01) deleterious(0.780) NULL ADAM23 8745 genome.wustl.edu 37 2 207454233 207454236 + Frame_Shift_Del DEL CAAA CAAA - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 CAAA CAAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_003812.2 +1 reviewed p.K652fs 1.000:1.000:1.000:1.000 - - - - - - - - - HMMPfam_ADAM_CR,HMMSmart_SM00608 MDH1B 130752 genome.wustl.edu 37 2 207620066 207620066 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001039845.1 -1 validated p.R193C 0.203 87 0% 97 16.5% 0 - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) superfamily_NAD(P)-binding Rossmann-fold domains ERBB4 2066 genome.wustl.edu 37 2 212589909 212589909 + Silent SNP C C T rs142765774 by1000genomes TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000260943 -1 known p.R211Q 0.035 48 0% 49 40.8% 0 - - - - HMMPfam_Furin-like,HMMSmart_SM00261,superfamily_Growth factor receptor domain IKZF2 22807 genome.wustl.edu 37 2 214012391 214012392 + Frame_Shift_Ins INS - - AC novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000442445 -1 known p.P68fs 0.064:0.049 - - - - - - - - - NULL SH3BP5 9467 genome.wustl.edu 37 3 15311247 15311247 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_004844.3 -1 validated p.Q156 1.000 34 0% 36 36.1% 2 0% - - - HMMPfam_SH3BP5 ZNF385D 79750 genome.wustl.edu 37 3 21467058 21467058 + Missense_Mutation SNP T T A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_024697.2 -1 validated p.T260S 1.000 311 0% 277 44.4% 0 - benign(0.002) tolerated(1) - NULL XYLB 9942 genome.wustl.edu 37 3 38454445 38454445 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_005108.3 +1 reviewed p.P518S 0.511 170 0% 131 42.7% 4 75% benign(0) tolerated(0.67) neutral(0.003) superfamily_SSF53067 SCN11A 11280 genome.wustl.edu 37 3 38966905 38966905 + Splice_Site SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_014139.2 -1 validated e5+1 1.000 113 0% 102 36.3% 0 - - - - - FYCO1 79443 genome.wustl.edu 37 3 46014692 46014692 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_024513.2 -1 validated p.Q143* 1.000 105 0% 126 37.3% 0 - - - - NULL LTF 4057 genome.wustl.edu 37 3 46501249 46501249 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_002343.2 -1 reviewed p.A35V 0.000 126 0% 169 47.3% 1 0% benign(0.018) tolerated(0.5) neutral(0.011) HMMPfam_Transferrin,HMMSmart_TR_FER,superfamily_SSF53850 CELSR3 1951 genome.wustl.edu 37 3 48699203 48699203 + Missense_Mutation SNP G G T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001407.2 -1 reviewed p.Q289K 0.150 8 0.000 6 0.667 0 - benign(0.001) tolerated(0.17) neutral(0.059) NULL LAMB2 3913 genome.wustl.edu 37 3 49167132 49167132 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_002292.3 -1 reviewed p.R475W 0.624 94 0% 95 44.2% 4 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196 MST1R 4486 genome.wustl.edu 37 3 49928838 49928838 + Silent SNP A A T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000434765 -1 known p.L154H 0.991 63 0% 55 38.2% 37 40.5% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ABHD14A 25864 genome.wustl.edu 37 3 52012371 52012371 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000458031 +1 known p.P78L 0.965 92 0% 98 35.7% 104 51.9% unknown(0) deleterious(0) - NULL GLYCTK 132158 genome.wustl.edu 37 3 52324719 52324719 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_145262.3 +1 reviewed p.E121K 1.000 23 0% 25 32% 9 33.3% benign(0.089) tolerated(0.48) neutral(0.017) superfamily_GckA/TtuD-like DNAH1 25981 genome.wustl.edu 37 3 52422224 52422224 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_015512.4 +1 validated p.Y3015 0.956 67 0% 81 45.7% 0 - - - - NULL PBRM1 55193 genome.wustl.edu 37 3 52610557 52610557 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_018165.4 -1 validated p.G1199R 1.000 247 0.8% 259 22.4% 4 0% possibly_damaging(0.787) deleterious(0.04) deleterious(0.643) HMMPfam_BAH,HMMSmart_BAH SLMAP 7871 genome.wustl.edu 37 3 57893693 57893693 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000416658 +1 known p.A119T 1.000 112 0% 94 42.6% 5 60% - - - NULL EPHA6 285220 genome.wustl.edu 37 3 96533482 96533482 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001080448.2 +1 provisional p.S5 0.999 16 0% 11 54.5% 0 - - - - NULL MORC1 27136 genome.wustl.edu 37 3 108677946 108677946 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_014429.3 -1 reviewed p.E941K 0.970 64 0% 71 35.2% 0 - benign(0.14) deleterious(0.01) neutral(0.418) NULL MORC1 27136 genome.wustl.edu 37 3 108754191 108754191 + Silent SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_014429.3 -1 reviewed p.Q485 0.706 221 0% 236 44.9% 0 - - - - HMMPfam_zf-CW ARHGAP31 57514 genome.wustl.edu 37 3 119133695 119133695 + Missense_Mutation SNP C C A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_020754.2 +1 reviewed p.S973R 0.999 54 0% 64 46.9% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL MCM2 4171 genome.wustl.edu 37 3 127323763 127323763 + Missense_Mutation SNP G G A rs190889381 by1000genomes TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_004526.2 +1 reviewed p.R146H 1.000 30 0% 30 50% 7 42.8% possibly_damaging(0.951) tolerated(0.12) deleterious(0.655) NULL U2SURP 23350 genome.wustl.edu 37 3 142751663 142751663 + Missense_Mutation SNP A A T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001080415.1 +1 provisional p.T550S 1.000 146 0.7% 132 35.6% 18 61.1% benign(0.3) tolerated(0.14) neutral(0.343) HMMSmart_SM00582,superfamily_ENTH/VHS domain IGSF10 285313 genome.wustl.edu 37 3 151156014 151156014 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_178822.4 -1 validated p.A2112V 0.621 201 0% 177 31.1% 0 - probably_damaging(0.989) tolerated(0.06) deleterious(0.762) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin PLCH1 23007 genome.wustl.edu 37 3 155206545 155206545 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001130960.1 -1 validated p.E803K 1.000 169 0% 135 37% 2 0% possibly_damaging(0.604) deleterious(0) deleterious(0.654) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PRKCI 5584 genome.wustl.edu 37 3 170009668 170009668 + Silent SNP C C G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_002740.5 +1 reviewed p.T410 0.755 127 0% 130 34.6% 1 100% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase TNIK 23043 genome.wustl.edu 37 3 170893065 170893065 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_015028.2 -1 validated p.A250V 0.997 172 0% 164 43.9% 3 0% possibly_damaging(0.69) deleterious(0) deleterious(0.692) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CCDC39 339829 genome.wustl.edu 37 3 180381737 180381737 + Missense_Mutation SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_181426.1 -1 validated p.D43G 0.942 201 0% 180 33.9% 0 - possibly_damaging(0.949) tolerated(0.11) deleterious(0.665) NULL LAMP3 27074 genome.wustl.edu 37 3 182871803 182871803 + Silent SNP A A C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_014398.3 -1 validated p.A142 0.000 569 0% 504 45.8% 1 0% - - - HMMPfam_Lamp HTT 3064 genome.wustl.edu 37 4 3237960 3237960 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_002111.6 +1 reviewed p.R2957Q 1.000 135 0% 115 40% 12 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SORCS2 57537 genome.wustl.edu 37 4 7716020 7716020 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000507866 +1 known p.V648I 0.108 70 1.4% 59 44.1% 0 - - - - HMMSmart_SM00602 CC2D2A 57545 genome.wustl.edu 37 4 15539705 15539705 + Missense_Mutation SNP C C G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001080522.2 +1 reviewed p.L650V 0.225 65 0% 64 45.3% 1 100% probably_damaging(0.996) tolerated(0.19) deleterious(0.511) NULL ARAP2 116984 genome.wustl.edu 37 4 36168643 36168643 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_015230.2 -1 reviewed p.T628 0.217 151 0% 137 36.5% 0 - - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ATP10D 57205 genome.wustl.edu 37 4 47548693 47548693 + Missense_Mutation SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_020453.3 +1 validated p.I483M 0.077 107 0% 111 42.3% 0 - benign(0.156) tolerated(0.22) neutral(0.056) superfamily_HAD-like COPS4 51138 genome.wustl.edu 37 4 83987629 83987631 + In_Frame_Del DEL TTG TTG - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 TTG TTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_016129.2 +1 reviewed p.L310in_frame_del 1.000:1.000:1.000 - - - - - - - - - "HMMPfam_PCI,HMMSmart_SM00088,superfamily_""Winged helix"" DNA-binding domain" HERC6 55008 genome.wustl.edu 37 4 89317268 89317268 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_017912.3 +1 validated p.G287 0.000 88 0% 103 45.6% 0 - - - - HMMPfam_RCC1,superfamily_RCC1/BLIP-II PRDM5 11107 genome.wustl.edu 37 4 121702385 121702385 + Missense_Mutation SNP C C A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_018699.2 -1 reviewed p.Q452H 1.000 164 0% 128 38.3% 0 - probably_damaging(0.96) tolerated(0.07) deleterious(0.722) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers FBXW7 55294 genome.wustl.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G A rs149680468 TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_033632.2 -1 reviewed p.R505C 1.000 148 0% 125 47.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 DCHS2 54798 genome.wustl.edu 37 4 155411073 155411073 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001142552.1 -1 validated p.A479T 0.004 38 0% 25 40% 0 - benign(0.01) tolerated(0.1) neutral(0.287) HMMSmart_SM00112,superfamily_Cadherin-like FGA 2243 genome.wustl.edu 37 4 155507383 155507383 + Missense_Mutation SNP A A C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_000508.3 -1 reviewed p.S400A 0.003 128 0% 123 44.7% 0 - benign(0.24) tolerated(0.72) neutral(0.026) HMMPfam_Fib_alpha FAT1 2195 genome.wustl.edu 37 4 187527306 187527306 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_005245.3 -1 reviewed p.T3423M 0.983 123 0% 115 45.2% 2 50% probably_damaging(0.965) deleterious(0.01) deleterious(0.812) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like LRRC14B 389257 genome.wustl.edu 37 5 195288 195288 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001080478.1 +1 provisional p.A455 0.000 43 0% 53 15.1% 0 - - - - NULL SLC6A19 340024 genome.wustl.edu 37 5 1212576 1212576 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001003841.2 +1 reviewed p.R214C 1.000 45 0% 34 32.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF LPCAT1 79888 genome.wustl.edu 37 5 1466973 1466973 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_024830.3 -1 validated p.G437 0.000 51 0% 52 36.5% 2 50% - - - superfamily_SSF47473 NSUN2 54888 genome.wustl.edu 37 5 6622140 6622140 + Missense_Mutation SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_017755.4 -1 validated p.V204A 0.997 161 0% 117 47.9% 3 0% possibly_damaging(0.906) tolerated(0.75) neutral(0.361) HMMPfam_Nol1_Nop2_Fmu,superfamily_SSF53335 DNAH5 1767 genome.wustl.edu 37 5 13708443 13708443 + Missense_Mutation SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001369.2 -1 reviewed p.V4376A 1.000 91 0% 132 57.6% 0 - probably_damaging(0.994) deleterious(0.04) deleterious(0.801) HMMPfam_Dynein_heavy MTMR12 54545 genome.wustl.edu 37 5 32234009 32234009 + Missense_Mutation SNP G G T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001040446.1 -1 reviewed p.P515H 1.000 166 0% 178 46.6% 4 50% probably_damaging(0.974) deleterious(0.01) deleterious(0.822) superfamily_(Phosphotyrosine protein) phosphatases II NPR3 4883 genome.wustl.edu 37 5 32712493 32712493 + Missense_Mutation SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_000908.2 +1 validated p.Y204C 1.000 20 0% 20 35% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I HTR1A 3350 genome.wustl.edu 37 5 63256593 63256593 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_000524.2 -1 validated p.P318 0.001 62 0% 50 12% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MCTP1 79772 genome.wustl.edu 37 5 94050481 94050483 + Splice_Site DEL CTT CTT - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_024717.4 -1 validated e21-1 1.000:1.000:1.000 - - - - - - - - - - APC 324 genome.wustl.edu 37 5 112175273 112175273 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_000038.4 +1 reviewed p.Q1328* 0.986 48 0% 65 35.4% 0 - - - - NULL CATSPER3 347732 genome.wustl.edu 37 5 134346121 134346121 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_178019.2 +1 validated p.S332N 0.131 181 0% 161 41.6% 4 50% benign(0) deleterious(0.04) neutral(0.349) NULL PCDHA9 9752 genome.wustl.edu 37 5 140230206 140230206 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_031857.1 +1 reviewed p.S709N 1.000 79 0% 53 32.1% 0 - probably_damaging(1) tolerated(0.12) deleterious(0.760) NULL PCDHA10 56139 genome.wustl.edu 37 5 140236983 140236983 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_018901.2 +1 reviewed p.N450 0.906 91 0% 65 52.3% 0 - - - - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHB4 56131 genome.wustl.edu 37 5 140502844 140502844 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_018938.2 +1 reviewed p.V422I 0.143 102 0% 90 51.1% 0 - benign(0.321) tolerated(0.09) neutral(0.397) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHGB1 56104 genome.wustl.edu 37 5 140730522 140730522 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_018922.2 +1 reviewed p.A232V 0.997 62 0% 67 17.9% 0 - possibly_damaging(0.748) tolerated(0.21) neutral(0.319) HMMSmart_SM00112,PatternScan_CADHERIN_1 RBM27 54439 genome.wustl.edu 37 5 145610441 145610441 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_018989.1 +1 validated p.R271* 1.000 106 0% 110 48.2% 0 - - - - NULL DOCK2 1794 genome.wustl.edu 37 5 169461501 169461501 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_004946.2 +1 validated p.R1189Q 1.000 128 0% 104 40.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RPL26L1 51121 genome.wustl.edu 37 5 172395540 172395540 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_016093.2 +1 reviewed p.E83K 1.000 103 0% 101 46.5% 79 43% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_KOW,superfamily_Translation proteins SH3-like domain CPLX2 10814 genome.wustl.edu 37 5 175306032 175306032 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001008220.1 +1 reviewed p.K51 1.000 37 0% 30 46.7% 0 - - - - HMMPfam_Synaphin ZNF346 23567 genome.wustl.edu 37 5 176477893 176477893 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_012279.2 +1 reviewed p.A220V 1.000 99 0% 88 33% 3 33.3% possibly_damaging(0.919) tolerated(0.16) neutral(0.429) NULL EXOC2 55770 genome.wustl.edu 37 6 637718 637718 + Missense_Mutation SNP C C G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_018303.4 -1 reviewed p.G34A 1.000 106 0% 97 26.8% 0 - probably_damaging(0.995) tolerated(0.14) deleterious(0.707) HMMPfam_TIG,superfamily_Ig_E-set RREB1 6239 genome.wustl.edu 37 6 7231194 7231194 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001003699.3 +1 reviewed p.S954 0.000 64 0% 53 56.6% 3 33.3% - - - NULL PRSS16 10279 genome.wustl.edu 37 6 27222551 27222551 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_005865.3 +1 reviewed p.V410 1.000 81 0% 76 36.8% 1 0% - - - HMMPfam_Peptidase_S28,superfamily_SSF53474 MSH5 4439 genome.wustl.edu 37 6 31711921 31711921 + Silent SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_025259.5 +1 reviewed p.P181 0.001 70 0% 100 19% 0 - - - - NULL CUL7 9820 genome.wustl.edu 37 6 43014049 43014049 + Missense_Mutation SNP T T A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_014780.4 -1 reviewed p.K862M 1.000 128 0% 124 39.5% 8 37.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_APC10,superfamily_Gal_bind_like COL21A1 81578 genome.wustl.edu 37 6 55922493 55922493 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_030820.3 -1 reviewed p.A946T 0.964 118 0% 156 33.3% 1 100% unknown(0) tolerated(0.32) - NULL DOPEY1 23033 genome.wustl.edu 37 6 83863273 83863273 + Missense_Mutation SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_015018.2 +1 validated p.K2058R 1.000 471 0% 448 42.4% 2 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PM20D2 135293 genome.wustl.edu 37 6 89871857 89871857 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001010853.1 +1 validated p.R396W 1.000 72 0% 80 60% 1 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) superfamily_Zn-dependent exopeptidases CCNC 892 genome.wustl.edu 37 6 99997424 99997424 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_005190.3 -1 reviewed p.T186 0.996 110 0% 102 37.3% 12 16.6% - - - HMMSmart_SM00385,superfamily_Cyclin-like HBS1L 10767 genome.wustl.edu 37 6 135323934 135323934 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_006620.3 -1 reviewed p.V159 1.000 260 0% 228 38.6% 4 50% - - - HMMPfam_DUF1916 NHSL1 57224 genome.wustl.edu 37 6 138754487 138754487 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001144060.1 -1 validated p.A332V 0.828 92 0% 95 49.5% 2 100% probably_damaging(0.99) tolerated(0.31) deleterious(0.469) NULL ECT2L 345930 genome.wustl.edu 37 6 139186209 139186209 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001077706.1 +1 validated p.T456 0.004 74 0% 69 37.7% 0 - - - - NULL TULP4 56995 genome.wustl.edu 37 6 158924023 158924023 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_020245.3 +1 validated p.P1110S 0.100 45 0% 36 58.3% 0 - benign(0) tolerated(0.19) neutral(0.050) NULL IGF2R 3482 genome.wustl.edu 37 6 160448333 160448333 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_000876.2 +1 reviewed p.V255M 0.023 42 0% 48 39.6% 2 0% benign(0.001) tolerated(0.28) neutral(0.032) HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain PDE10A 10846 genome.wustl.edu 37 6 165806284 165806284 + Missense_Mutation SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001130690.1 -1 validated p.F503L 1.000 106 0% 88 38.6% 0 - benign(0.148) deleterious(0.03) neutral(0.378) superfamily_SSF109604 GPR146 115330 genome.wustl.edu 37 7 1097963 1097963 + Missense_Mutation SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_138445.2 +1 provisional p.L271P 0.000 77 0% 74 39.2% 8 37.5% possibly_damaging(0.716) tolerated(0.37) neutral(0.278) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like INTS1 26173 genome.wustl.edu 37 7 1528998 1528998 + Missense_Mutation SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001080453.2 -1 validated p.M767T 1.000 19 0% 27 33.3% 6 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL IQCE 23288 genome.wustl.edu 37 7 2629609 2629609 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_152558.3 +1 validated p.C371 0.000 23 0% 19 47.4% 4 75% - - - NULL CARD11 84433 genome.wustl.edu 37 7 2951847 2951847 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_032415.3 -1 validated p.E1035K 1.000 132 0% 160 46.9% 2 0% probably_damaging(0.983) tolerated(0.68) neutral(0.431) superfamily_SSF52540 SDK1 221935 genome.wustl.edu 37 7 4247753 4247753 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_152744.3 +1 validated p.S1746N 0.139 47 0% 59 40.7% 0 - benign(0.002) tolerated(0.31) neutral(0.027) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SCIN 85477 genome.wustl.edu 37 7 12684210 12684210 + Missense_Mutation SNP G G T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001112706.2 +1 validated p.E587D 1.000 59 0% 75 30.7% 1 0% benign(0) tolerated(0.64) neutral(0.003) HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins PDE1C 5137 genome.wustl.edu 37 7 31912929 31912929 + Silent SNP A A C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_005020.1 -1 provisional p.R195 0.999 104 0% 93 46.2% 0 - - - - superfamily_SSF109604 TRGV3 6976 genome.wustl.edu 37 7 38398576 38398576 + Missense_Mutation SNP C C A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000390346 -1 known p.R2L 0.000 164 0% 161 9.9% 0 - benign(0) tolerated(0.46) neutral(0.012) NULL URGCP 55665 genome.wustl.edu 37 7 43918300 43918300 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001077663.1 -1 validated p.S254 0.507 48 0% 57 50.9% 11 18.1% - - - NULL COBL 23242 genome.wustl.edu 37 7 51095567 51095567 + Missense_Mutation SNP C C A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_015198.3 -1 validated p.D1076Y 0.000 284 0% 294 43.2% 4 25% possibly_damaging(0.822) deleterious(0.01) deleterious(0.717) NULL AUTS2 26053 genome.wustl.edu 37 7 70229775 70229775 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_015570.2 +1 validated p.A418T 0.964 179 0% 139 48.2% 0 - benign(0) tolerated(0.06) neutral(0.323) NULL POM121 9883 genome.wustl.edu 37 7 72398921 72398921 + Splice_Site SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_172020.1 +1 reviewed e3-2 0.968 229 0% 224 38.4% 0 - - - - - GTF2IRD1 9569 genome.wustl.edu 37 7 73950543 73950543 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_016328.1 +1 reviewed p.P449 0.840 43 0% 52 38.5% 14 14.2% - - - NULL CDK6 1021 genome.wustl.edu 37 7 92355008 92355008 + Nonsense_Mutation SNP C C A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001145306.1 -1 reviewed p.G157* 1.000 159 0% 189 45% 2 50% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TECPR1 25851 genome.wustl.edu 37 7 97870246 97870246 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_015395.1 -1 provisional p.V284M 0.997 45 0% 58 41.4% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_Hyd_WA,HMMSmart_SM00706 BAIAP2L1 55971 genome.wustl.edu 37 7 97939843 97939843 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_018842.4 -1 reviewed p.G290D 0.995 209 0% 207 12.6% 25 0% possibly_damaging(0.694) tolerated(0.5) neutral(0.259) NULL TRRAP 8295 genome.wustl.edu 37 7 98609765 98609765 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000456197 +1 known p.R3518H 0.588 58 0% 42 45.2% 31 41.9% - - - HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat AP4M1 9179 genome.wustl.edu 37 7 99699386 99699386 + Missense_Mutation SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_004722.3 +1 reviewed p.Y17H 1.000 77 0% 69 33.3% 3 33.3% benign(0.023) tolerated(0.45) neutral(0.013) HMMPfam_Clat_adaptor_s,superfamily_Longin_like MLL5 55904 genome.wustl.edu 37 7 104702673 104702674 + Frame_Shift_Del DEL TA TA - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_018682.3 +1 reviewed p.T47fs 1.000:0.999 - - - - - - - - - NULL FLNC 2318 genome.wustl.edu 37 7 128493067 128493067 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001458.4 +1 reviewed p.V2064M 1.000 18 0% 22 40.9% 1 0% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin TRPV6 55503 genome.wustl.edu 37 7 142569570 142569570 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_018646.2 -1 validated p.R690C 1.000 76 0% 77 28.6% 3 66.6% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL ARHGEF5 7984 genome.wustl.edu 37 7 144069808 144069808 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000474817 +1 known p.R590Q 0.309 126 0% 108 18.5% 5 0% - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) CHPF2 54480 genome.wustl.edu 37 7 150935527 150935527 + Missense_Mutation SNP G G T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_019015.1 +1 provisional p.Q693H 1.000 44 0% 53 45.3% 53 58.4% possibly_damaging(0.578) deleterious(0.04) deleterious(0.547) HMMPfam_CHGN ATP6V1B2 526 genome.wustl.edu 37 8 20068742 20068742 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001693.3 +1 reviewed p.G173D 1.000 164 0% 163 32.5% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ATP-synt_ab,superfamily_P-loop containing nucleoside triphosphate hydrolases NEFL 4747 genome.wustl.edu 37 8 24813539 24813539 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000221169 -1 known p.R164H 1.000 10 0.000 8 0.750 0 - - - - HMMPfam_Filament EBF2 64641 genome.wustl.edu 37 8 25715990 25715990 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_022659.2 -1 validated p.P458L 1.000 252 0% 223 42.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DPYSL2 1808 genome.wustl.edu 37 8 26500973 26500973 + Missense_Mutation SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001386.4 +1 validated p.E277G 1.000 171 0% 151 49% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Amidohydro_1,superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases GPR124 25960 genome.wustl.edu 37 8 37688319 37688319 + Silent SNP C C A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_032777.8 +1 validated p.A270 1.000 34 0% 36 19.4% 3 0% - - - HMMSmart_SM00409 FAM110B 90362 genome.wustl.edu 37 8 59059805 59059805 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_147189.2 +1 validated p.P339L 1.000 74 0% 75 46.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MSC 9242 genome.wustl.edu 37 8 72755971 72755971 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_005098.3 -1 reviewed p.T148M 1.000 26 0% 28 35.7% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain SLC10A5 347051 genome.wustl.edu 37 8 82606437 82606438 + Frame_Shift_Ins INS - - TA novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001010893.2 -1 validated p.S258fs 0.989:1.000 - - - - - - - - - HMMPfam_SBF VPS13B 157680 genome.wustl.edu 37 8 100587947 100587947 + Nonsense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_017890.3 +1 reviewed p.R1696* 0.996 209 0% 206 39.3% 1 0% - - - NULL PKHD1L1 93035 genome.wustl.edu 37 8 110499007 110499007 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_177531.4 +1 validated p.R3279 0.179 222 0% 199 40.7% 0 - - - - superfamily_Pectin lyase-like KHDRBS3 10656 genome.wustl.edu 37 8 136569701 136569701 + Missense_Mutation SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_006558.1 +1 provisional p.D161G 1.000 116 0% 95 43.2% 10 70% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Eukaryotic type KH-domain (KH-domain type I) PLEC 5339 genome.wustl.edu 37 8 144996469 144996469 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_201380.2 -1 reviewed p.R2644H 0.130 11 0% 11 54.5% 14 35.7% benign(0.24) - - NULL PLEC 5339 genome.wustl.edu 37 8 144997105 144997105 + Missense_Mutation SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_201380.2 -1 reviewed p.L2468P 0.998 9 0.000 18 0.444 19 31.5% probably_damaging(0.997) - - NULL NFX1 4799 genome.wustl.edu 37 9 33351597 33351597 + Missense_Mutation SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_002504.3 +1 reviewed p.C822R 1.000 129 0% 120 44.2% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NOL6 65083 genome.wustl.edu 37 9 33469335 33469335 + Missense_Mutation SNP C C A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_022917.4 -1 reviewed p.K244N 1.000 107 0% 102 45.1% 3 66.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Nrap RUSC2 9853 genome.wustl.edu 37 9 35555237 35555237 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001135999.1 +1 validated p.A732V 0.237 38 0% 23 34.8% 4 0% benign(0.184) tolerated(0.1) neutral(0.303) NULL TMEM8B 51754 genome.wustl.edu 37 9 35846998 35846998 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_016446.3 +1 provisional p.C275 0.146 109 0% 105 54.3% 18 11.1% - - - NULL LOC646993 646993 genome.wustl.edu 37 9 36303798 36303798 + Missense_Mutation SNP G G C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 XM_929965.4 -1 model p.P108R 1.000 9 0.000 14 0.500 12 0% - - - HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box LOC100288765 100288765 genome.wustl.edu 37 9 69846733 69846733 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 XM_002342925.1 +1 model p.A276V 1.000 53 0% 41 19.5% 0 - - - - superfamily_C2H2 and C2HC zinc fingers FAM108B1 51104 genome.wustl.edu 37 9 74489617 74489617 + Missense_Mutation SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_016014.2 -1 validated p.Y127C 1.000 108 0% 131 48.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Abhydrolase_1,superfamily_SSF53474 GNA14 9630 genome.wustl.edu 37 9 80262685 80262685 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_004297.3 -1 reviewed p.A9T 0.989 19 0% 16 56.2% 1 0% benign(0.016) tolerated(0.45) neutral(0.013) HMMPfam_G-alpha SECISBP2 79048 genome.wustl.edu 37 9 91943768 91943770 + In_Frame_Del DEL AGA AGA - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_024077.3 +1 reviewed p.E257in_frame_del 0.323:0.364:0.354 - - - - - - - - - NULL AUH 549 genome.wustl.edu 37 9 93978355 93978357 + In_Frame_Del DEL CTT CTT - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001698.2 -1 reviewed p.E309in_frame_del 1.000:1.000:1.000 - - - - - - - - - superfamily_ClpP/crotonase SLC44A1 23446 genome.wustl.edu 37 9 108136923 108136923 + Silent SNP C C A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_080546.3 +1 validated p.T513 1.000 189 0% 182 19.2% 13 23% - - - HMMPfam_DUF580 KIF12 113220 genome.wustl.edu 37 9 116855768 116855770 + In_Frame_Del DEL GAG GAG - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_138424.1 -1 provisional p.L332in_frame_del 0.018:0.418:0.668 - - - - - - - - - NULL DBC1 1620 genome.wustl.edu 37 9 121929407 121929407 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_014618.2 -1 validated p.T747 0.010 246 0% 220 41.4% 1 0% - - - NULL C5 727 genome.wustl.edu 37 9 123731363 123731363 + Missense_Mutation SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001735.2 -1 reviewed p.Y1399C 0.593 160 0% 174 32.8% 0 - benign(0.261) tolerated(0.18) neutral(0.083) superfamily_AM_receptor_bind GLE1 2733 genome.wustl.edu 37 9 131295828 131295828 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001003722.1 +1 reviewed p.S450N 0.997 128 0% 133 42.1% 14 50% benign(0) tolerated(0.63) neutral(0.004) HMMPfam_GLE1 DOLPP1 57171 genome.wustl.edu 37 9 131849037 131849037 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_020438.4 +1 validated p.V214I 0.998 74 0% 86 40.7% 3 66.6% benign(0.001) tolerated(0.59) neutral(0.004) NULL C9orf50 375759 genome.wustl.edu 37 9 132377823 132377823 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_199350.3 -1 validated p.R274* 0.845 35 0% 34 38.2% 0 - - - - NULL FNBP1 23048 genome.wustl.edu 37 9 132662287 132662287 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000449089 -1 known p.P500L 0.804 130 0% 104 40.4% 6 16.6% - - - superfamily_SH3-domain BRD3 8019 genome.wustl.edu 37 9 136901205 136901205 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_007371.3 -1 reviewed p.L629 1.000 158 0% 149 35.6% 2 0% - - - NULL SOHLH1 402381 genome.wustl.edu 37 9 138585554 138585554 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001101677.1 -1 validated p.S351 0.953 28 0% 32 50% 0 - - - - NULL NOTCH1 4851 genome.wustl.edu 37 9 139395186 139395186 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_017617.3 -1 reviewed p.A1918T 1.000 41 0% 31 45.2% 12 41.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK PTGDS 5730 genome.wustl.edu 37 9 139872131 139872131 + Missense_Mutation SNP T T A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_000954.5 +1 reviewed p.F34Y 1.000 15 0% 18 50% 62 0% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_LIPOCALIN,superfamily_Lipocalins OGDHL 55753 genome.wustl.edu 37 10 50954894 50954894 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_018245.2 -1 validated p.A400T 1.000 74 0% 70 52.9% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_E1_dh,superfamily_SSF52518 PCDH15 65217 genome.wustl.edu 37 10 55996673 55996673 + Missense_Mutation SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001142763.1 -1 reviewed p.I304V 0.999 220 0% 218 41.3% 0 - benign(0) tolerated(0.68) neutral(0.002) HMMPfam_Cadherin,superfamily_Cadherin-like RHOBTB1 9886 genome.wustl.edu 37 10 62670738 62670738 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_014836.4 -1 reviewed p.R68H 1.000 102 0% 73 38.4% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_RHO,superfamily_SSF52540 ARID5B 84159 genome.wustl.edu 37 10 63851109 63851109 + Missense_Mutation SNP G G T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_032199.2 +1 validated p.K629N 1.000 48 0% 79 30.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SH2D4B 387694 genome.wustl.edu 37 10 82363341 82363341 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_207372.2 +1 validated p.R217Q 0.315 17 0% 12 66.7% 0 - probably_damaging(0.986) deleterious(0.03) deleterious(0.799) NULL PTEN 5728 genome.wustl.edu 37 10 89653819 89653822 + Frame_Shift_Del DEL AGAA AGAA - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 AGAA AGAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000371953 +1 known p.E40fs 1.000:1.000:1.000:1.000 - - - - - - - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PDCD11 22984 genome.wustl.edu 37 10 105177641 105177641 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_014976.1 +1 validated p.E621 0.001 141 0% 142 43.7% 0 - - - - superfamily_Nucleic_acid_OB TCF7L2 6934 genome.wustl.edu 37 10 114710595 114710597 + In_Frame_Del DEL AGG AGG - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_030756.4 +1 reviewed p.E29in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_CTNNB1_binding FAM24B 196792 genome.wustl.edu 37 10 124609947 124609947 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_152644.2 -1 validated p.A29T 0.000 278 0% 231 44.2% 0 - possibly_damaging(0.915) deleterious(0) deleterious(0.811) NULL CPXM2 119587 genome.wustl.edu 37 10 125639745 125639745 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_198148.2 -1 validated p.R129C 0.180 152 0% 159 44% 0 - possibly_damaging(0.56) deleterious(0.01) deleterious(0.597) NULL OAT 4942 genome.wustl.edu 37 10 126097526 126097526 + Silent SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_000274.3 -1 reviewed p.L70 0.072 125 0% 123 40.7% 3 0% - - - HMMPfam_Aminotran_3,superfamily_PyrdxlP-dep_Trfase_major DOCK1 1793 genome.wustl.edu 37 10 128821565 128821567 + In_Frame_Del DEL GAT GAT - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 GAT GAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000398025 +1 known p.D456in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL MUC5B 727897 genome.wustl.edu 37 11 1267049 1267049 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_002458.1 +1 validated p.T2983M 0.000 191 0% 144 15.3% 2 0% unknown(0) - - NULL OR52N1 79473 genome.wustl.edu 37 11 5810041 5810041 + Silent SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001001913.1 -1 provisional p.S2 0.009 23 0% 23 52.2% 0 - - - - superfamily_SSF81321 APBB1 322 genome.wustl.edu 37 11 6424562 6424562 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001164.2 -1 reviewed p.A343T 1.000 75 0% 78 42.3% 1 0% possibly_damaging(0.628) tolerated(0.27) neutral(0.253) superfamily_PH domain-like DNHD1 144132 genome.wustl.edu 37 11 6554961 6554961 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_144666.2 +1 provisional p.Y852 0.418 64 0% 69 58% 0 - - - - NULL LDHAL6A 160287 genome.wustl.edu 37 11 18487289 18487293 + Frame_Shift_Del DEL TTAAA TTAAA - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 TTAAA TTAAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001144071.1 +1 validated p.K118fs 1.000:1.000:1.000:0.998:0.620 - - - - - - - - - HMMPfam_Ldh_1_N,superfamily_NAD(P)-bd PTPN5 84867 genome.wustl.edu 37 11 18762246 18762246 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_006906.1 -1 validated p.S273 0.002 40 0% 29 37.9% 0 - - - - superfamily_(Phosphotyrosine protein) phosphatases II EHF 26298 genome.wustl.edu 37 11 34680226 34680228 + In_Frame_Del DEL AAG AAG - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_012153.4 +1 validated p.K253in_frame_del 1.000:1.000:1.000 - - - - - - - - - "HMMPfam_Ets,HMMSmart_SM00413,superfamily_""Winged helix"" DNA-binding domain" GYLTL1B 120071 genome.wustl.edu 37 11 45949753 45949753 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_152312.3 +1 validated p.A594T 0.991 39 0% 47 42.6% 135 53.3% possibly_damaging(0.525) tolerated(0.12) neutral(0.438) NULL AMBRA1 55626 genome.wustl.edu 37 11 46564856 46564856 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_017749.2 -1 validated p.T237 0.153 82 0% 70 52.9% 3 100% - - - NULL LRP4 4038 genome.wustl.edu 37 11 46884207 46884207 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_002334.3 -1 reviewed p.E1779K 1.000 554 0% 546 22.3% 32 18.7% possibly_damaging(0.653) deleterious(0) deleterious(0.674) NULL MADD 8567 genome.wustl.edu 37 11 47296642 47296642 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_003682.3 +1 reviewed p.K197 0.999 105 0% 99 30.3% 0 - - - - HMMPfam_DENN,HMMSmart_SM00799 OR4C15 81309 genome.wustl.edu 37 11 55322600 55322600 + Missense_Mutation SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001001920.1 +1 provisional p.V273A 0.023 232 0% 238 23.1% 0 - possibly_damaging(0.945) deleterious(0.03) deleterious(0.754) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR10Q1 219960 genome.wustl.edu 37 11 57995783 57995783 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001004471.2 -1 validated p.V189I 0.480 67 0% 72 11.1% 0 - benign(0.03) tolerated(0.16) neutral(0.061) HMMPfam_7tm_1,superfamily_SSF81321 FEN1 2237 genome.wustl.edu 37 11 61563826 61563826 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_004111.4 +1 reviewed p.S331 1.000 56 0% 51 15.7% 30 16.6% - - - superfamily_5' to 3' exonuclease C-terminal subdomain GANAB 23193 genome.wustl.edu 37 11 62396437 62396437 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_198335.2 -1 validated p.R684C 1.000 39 0% 61 31.1% 52 48% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_2 UBXN1 51035 genome.wustl.edu 37 11 62445882 62445882 + Splice_Site SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_015853.3 -1 provisional e4-2 0.881 128 0% 139 48.9% 6 100% - - - - C11orf95 65998 genome.wustl.edu 37 11 63533451 63533451 + Missense_Mutation SNP C C A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001144936.1 -1 predicted p.W155C 1.000 150 0% 123 43.9% 0 - - - - NULL ESRRA 2101 genome.wustl.edu 37 11 64074698 64074698 + Missense_Mutation SNP A A C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_004451.3 +1 reviewed p.E16A 0.997 59 0% 43 30.2% 5 40% benign(0.002) deleterious(0) neutral(0.445) NULL FOSL1 8061 genome.wustl.edu 37 11 65660428 65660428 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_005438.3 -1 reviewed p.R249C 1.000 48 0% 67 47.8% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CTTN 2017 genome.wustl.edu 37 11 70279799 70279799 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_005231.3 +1 reviewed p.A497 1.000 135 0% 123 48% 88 42% - - - HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 LOC220077 220077 genome.wustl.edu 37 11 71961323 71961323 + RNA SNP C C A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 XR_017002.2 -1 model NULL 0.980 36 0% 29 41.4% 0 - - - - - PGM2L1 283209 genome.wustl.edu 37 11 74056576 74056576 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_173582.3 -1 validated p.A386T 1.000 205 0% 193 46.6% 1 100% benign(0.011) tolerated(0.07) neutral(0.320) superfamily_Phosphoglucomutase first 3 domains MAML2 84441 genome.wustl.edu 37 11 95712363 95712363 + Missense_Mutation SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_032427.1 -1 validated p.T1074A 0.998 294 0% 247 38.5% 2 0% possibly_damaging(0.752) tolerated(0.2) neutral(0.325) NULL LAYN 143903 genome.wustl.edu 37 11 111414869 111414869 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_178834.3 +1 provisional p.R103C 0.147 117 0% 115 45.2% 5 0% possibly_damaging(0.732) tolerated(0.2) neutral(0.317) HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold NCAM1 4684 genome.wustl.edu 37 11 113085220 113085220 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000401611 +1 known p.S231N 1.000 85 0% 67 50.7% 0 - possibly_damaging(0.912) tolerated(0.07) deleterious(0.682) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 PHLDB1 23187 genome.wustl.edu 37 11 118514585 118514585 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001144758.1 +1 validated p.P982L 1.000 42 0% 50 54% 5 0% probably_damaging(0.994) tolerated(0.08) deleterious(0.752) NULL TECTA 7007 genome.wustl.edu 37 11 121028919 121028919 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_005422.2 +1 reviewed p.R1559W 1.000 44 2.3% 40 52.5% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_VWD,HMMSmart_SM00216 OR8G2 26492 genome.wustl.edu 37 11 124095512 124095512 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001007249.1 +1 provisional p.R39C 0.924 155 0% 152 42.8% 0 - - - - superfamily_SSF81321 ARHGAP32 9743 genome.wustl.edu 37 11 128848792 128848792 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001142685.1 -1 validated p.K651 0.997 106 0% 102 44.1% 0 - - - - NULL EFCAB4B 84766 genome.wustl.edu 37 12 3768785 3768785 + Missense_Mutation SNP A A C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001144958.1 -1 validated p.L236R 0.988 208 0% 146 37% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL AKAP3 10566 genome.wustl.edu 37 12 4736891 4736891 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_006422.2 -1 reviewed p.H393Y 0.003 166 0% 172 47.7% 0 - benign(0.011) deleterious(0.05) neutral(0.346) HMMPfam_AKAP_110,HMMSmart_SM00807 GRIN2B 2904 genome.wustl.edu 37 12 13716592 13716592 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_000834.3 -1 reviewed p.P1194S 1.000 80 0% 84 54.8% 0 - benign(0.013) tolerated(0.42) neutral(0.015) HMMPfam_NMDAR2_C KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 byCluster TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_033360.2 -1 reviewed p.G12D 1.000 173 0% 200 46.5% 1 0% possibly_damaging(0.886) deleterious(0) deleterious(0.791) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases CCNT1 904 genome.wustl.edu 37 12 49091968 49091969 + Splice_Site INS - - A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001240.2 -1 reviewed e6-2 1.000:0.991 - - - - - - - - - - RACGAP1 29127 genome.wustl.edu 37 12 50400226 50400226 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001126103.1 -1 validated p.C93 0.871 93 0% 113 46.9% 4 25% - - - NULL CALCOCO1 57658 genome.wustl.edu 37 12 54108446 54108446 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_020898.2 -1 validated p.T473I 0.998 101 0% 105 41% 12 58.3% possibly_damaging(0.923) tolerated(0.09) deleterious(0.669) HMMPfam_CALCOCO1 OR10P1 121130 genome.wustl.edu 37 12 56031382 56031382 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_206899.1 +1 provisional p.R236H 0.000 96 0% 79 35.4% 0 - benign(0.002) tolerated(0.58) neutral(0.005) HMMPfam_7tm_1,superfamily_SSF81321 MARS 4141 genome.wustl.edu 37 12 57908506 57908506 + Silent SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_004990.2 +1 reviewed p.A657 1.000 161 0% 138 47.8% 49 48.9% - - - superfamily_tRNAsyn_1a_bind,HMMPfam_tRNA-synt_1g TRHDE 29953 genome.wustl.edu 37 12 72666729 72666729 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_013381.2 +1 reviewed p.L57 0.915 8 0.000 12 0.417 0 - - - - NULL PLXNC1 10154 genome.wustl.edu 37 12 94694693 94694693 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_005761.1 +1 provisional p.L1416F 1.000 102 0% 102 29.4% 0 - unknown(0) tolerated(0.12) - superfamily_Rho_GAP,HMMPfam_Plexin_cytopl UTP20 27340 genome.wustl.edu 37 12 101750807 101750807 + Frame_Shift_Del DEL T T - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_014503.2 +1 validated p.F1880fs 0.999 - - - - - - - - - superfamily_ARM repeat STAB2 55576 genome.wustl.edu 37 12 104089546 104089546 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_017564.9 +1 reviewed p.A1169V 0.996 147 0% 161 47.2% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_Fasciclin,superfamily_BIgH3_FAS1 SSH1 54434 genome.wustl.edu 37 12 109182626 109182626 + Missense_Mutation SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_018984.3 -1 validated p.D763G 0.914 165 0% 191 48.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MYO1H 283446 genome.wustl.edu 37 12 109865337 109865337 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001101421.3 +1 provisional p.R626Q 1.000 120 0% 109 42.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases USPL1 10208 genome.wustl.edu 37 13 31232199 31232199 + Missense_Mutation SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_005800.4 +1 validated p.N662S 0.000 89 0% 101 40.6% 14 28.5% benign(0.01) tolerated(0.69) neutral(0.003) NULL HSPH1 10808 genome.wustl.edu 37 13 31722601 31722601 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_006644.2 -1 validated p.P385L 1.000 61 0% 76 23.7% 21 4.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HSP70 FRY 10129 genome.wustl.edu 37 13 32783015 32783015 + Missense_Mutation SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000261575 +1 known p.T153A 0.250 46 0% 34 38.2% 0 - benign(0) tolerated(0.63) neutral(0.004) NULL BRCA2 675 genome.wustl.edu 37 13 32950837 32950837 + Missense_Mutation SNP G G A rs80359124 byCluster TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_000059.3 +1 reviewed p.R2888H 0.023 90 0% 91 51.6% 1 0% possibly_damaging(0.855) tolerated(0.21) neutral(0.374) superfamily_Nucleic_acid_OB,superfamily_SSF81878 FREM2 341640 genome.wustl.edu 37 13 39262950 39262950 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_207361.4 +1 reviewed p.G490D 1.000 37 0% 63 55.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ZC3H13 23091 genome.wustl.edu 37 13 46542056 46542056 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_015070.3 -1 validated p.R1302* 0.952 267 0% 279 40.9% 5 60% - - - NULL HTR2A 3356 genome.wustl.edu 37 13 47469759 47469759 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_000621.3 -1 reviewed p.V95I 1.000 134 0.7% 113 36.3% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LOC647262 647262 genome.wustl.edu 37 13 64321145 64321145 + Missense_Mutation SNP G G T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 XM_934622.3 +1 model p.G71V 0.842 190 0% 124 46.8% 0 - unknown(0) deleterious(0.01) - NULL SPRY2 10253 genome.wustl.edu 37 13 80911671 80911671 + Missense_Mutation SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_005842.2 -1 reviewed p.E57G 1.000 79 0% 99 45.5% 29 55.1% probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL MCF2L 23263 genome.wustl.edu 37 13 113714940 113714940 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001112732.1 +1 validated p.V192M 0.997 68 0% 65 41.5% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00516 SALL2 6297 genome.wustl.edu 37 14 21992767 21992767 + Silent SNP G G T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_005407.1 -1 validated p.P365 1.000 96 0% 82 40.2% 0 - - - - NULL NYNRIN 57523 genome.wustl.edu 37 14 24880325 24880325 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_025081.2 +1 validated p.A820T 1.000 96 0% 114 47.4% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL EGLN3 112399 genome.wustl.edu 37 14 34398328 34398328 + Missense_Mutation SNP A A T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_022073.3 -1 validated p.S190T 1.000 112 0% 91 36.3% 20 35% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_2OG-FeII_Oxy,HMMSmart_P4Hc ZFYVE26 23503 genome.wustl.edu 37 14 68236463 68236465 + In_Frame_Del DEL AGG AGG - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000394455 -1 known p.P14in_frame_del 0.000:0.004:0.000 - - - - - - - - - HMMSmart_SM00064 FBLN5 10516 genome.wustl.edu 37 14 92347738 92347738 + Frame_Shift_Del DEL T T - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_006329.3 -1 reviewed p.N296fs 1.000 - - - - - - - - - HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin UNC79 57578 genome.wustl.edu 37 14 94173186 94173186 + Missense_Mutation SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_020818.3 +1 validated p.Q2438R 1.000 153 0% 118 47.5% 0 - benign(0.37) tolerated(0.19) neutral(0.167) NULL WARS 7453 genome.wustl.edu 37 14 100820803 100820803 + Missense_Mutation SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_004184.3 -1 reviewed p.I175V 1.000 91 0% 93 32.3% 19 26.3% benign(0.001) tolerated(0.45) neutral(0.012) superfamily_Nucleotidylyl transferase TECPR2 9895 genome.wustl.edu 37 14 102894613 102894613 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_014844.3 +1 validated p.S326 0.018 98 1% 72 36.1% 0 - - - - HMMSmart_TECPR,superfamily_WD40_like MKRN3 7681 genome.wustl.edu 37 15 23811819 23811819 + Missense_Mutation SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_005664.3 +1 reviewed p.M297T 1.000 133 0% 118 42.4% 2 50% probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL UBE3A 7337 genome.wustl.edu 37 15 25620631 25620631 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_000462.2 -1 reviewed p.G117 0.003 67 0% 79 45.6% 3 66.6% - - - NULL OCA2 4948 genome.wustl.edu 37 15 28096602 28096602 + Missense_Mutation SNP A A C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_000275.2 -1 reviewed p.L755R 1.000 41 0% 27 33.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CitMHS STARD9 57519 genome.wustl.edu 37 15 43010963 43010963 + Missense_Mutation SNP T T G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 XM_001129482.3 +1 model p.V4533G 0.862 97 0% 86 44.2% 0 - possibly_damaging(0.733) - - superfamily_Bet v1-like TRPM7 54822 genome.wustl.edu 37 15 50906374 50906374 + Silent SNP G G T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_017672.4 -1 reviewed p.T527 0.998 129 0% 137 35.8% 1 0% - - - NULL THSD4 79875 genome.wustl.edu 37 15 72040793 72040793 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_024817.2 +1 provisional p.R759C 1.000 240 0% 213 40.8% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat NPTN 27020 genome.wustl.edu 37 15 73889513 73889513 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_012428.3 -1 reviewed p.G97S 1.000 94 0% 96 42.7% 0 - possibly_damaging(0.807) tolerated(0.17) neutral(0.363) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 WDR61 80349 genome.wustl.edu 37 15 78578445 78578445 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_025234.1 -1 provisional p.S229 1.000 39 0% 35 37.1% 56 42.8% - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 TMC3 342125 genome.wustl.edu 37 15 81648870 81648870 + Missense_Mutation SNP C C T rs146506274 by1000genomes TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001080532.1 -1 provisional p.R270Q 1.000 71 0% 82 34.1% 0 - probably_damaging(0.978) deleterious(0.03) deleterious(0.785) NULL WHAMM 123720 genome.wustl.edu 37 15 83499654 83499656 + In_Frame_Del DEL CCG CCG - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 CCG CCG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001080435.1 +1 provisional p.P652in_frame_del 0.038:0.029:0.000 - - - - - - - - - NULL ALPK3 57538 genome.wustl.edu 37 15 85360217 85360217 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_020778.4 +1 validated p.A47V 0.000 50 0% 61 39.3% 0 - unknown(0) - - NULL ACAN 176 genome.wustl.edu 37 15 89401997 89401998 + Frame_Shift_Del DEL AC AC - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_013227.3 +1 reviewed p.P1949fs 0.975:0.966 - - - - - - - - - NULL FURIN 5045 genome.wustl.edu 37 15 91424572 91424572 + Missense_Mutation SNP G G T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_002569.2 +1 reviewed p.G617W 0.998 15 0% 30 36.7% 28 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_FU,superfamily_Grow_fac_recept TTC23 64927 genome.wustl.edu 37 15 99740199 99740199 + Silent SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001040655.1 -1 validated p.V228 0.002 280 0% 256 10.5% 2 0% - - - superfamily_TPR-like AXIN1 8312 genome.wustl.edu 37 16 343588 343588 + Missense_Mutation SNP G G T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_003502.2 -1 reviewed p.P696T 1.000 60 0% 68 52.9% 39 41% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RPUSD1 113000 genome.wustl.edu 37 16 837435 837435 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_058192.2 -1 validated p.C75 0.991 18 0% 30 46.7% 16 43.7% - - - HMMPfam_PseudoU_synth_2,superfamily_PsdUridine_synth_cat_dom CRAMP1L 57585 genome.wustl.edu 37 16 1716120 1716120 + Silent SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_020825.3 +1 validated p.A933 1.000 84 1.2% 85 55.3% 0 - - - - NULL C16orf79 283870 genome.wustl.edu 37 16 2259563 2259563 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_182563.2 -1 provisional p.R195* 0.000 36 0% 32 50% 21 38% - - - NULL NOMO2 283820 genome.wustl.edu 37 16 18554975 18554975 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001004060.1 -1 reviewed p.V233 1.000 325 0% 314 42.4% 0 - - - - superfamily_Carboxypeptidase regulatory domain IGSF6 10261 genome.wustl.edu 37 16 21652899 21652901 + In_Frame_Del DEL TGT TGT - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_005849.2 -1 validated p.N227in_frame_del 0.185:0.128:0.015 - - - - - - - - - NULL XPO6 23214 genome.wustl.edu 37 16 28181140 28181140 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_015171.2 -1 provisional p.V166M 1.000 90 0% 84 45.2% 1 0% possibly_damaging(0.793) tolerated(0.28) neutral(0.330) HMMPfam_Xpo1,superfamily_ARM repeat RRN3P2 653390 genome.wustl.edu 37 16 29110458 29110458 + Missense_Mutation SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000427965 +1 known p.W375R 0.991 67 3% 117 30.8% 2 0% benign(0) tolerated(1) - HMMPfam_RRN3 SLC5A2 6524 genome.wustl.edu 37 16 31499706 31499706 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_003041.3 +1 reviewed p.E342K 0.953 29 0% 17 41.2% 1 0% benign(0) tolerated(0.35) neutral(0.021) HMMPfam_SSF ABCC12 94160 genome.wustl.edu 37 16 48149471 48149471 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_033226.2 -1 reviewed p.R615H 0.987 83 0% 78 52.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases CDH1 999 genome.wustl.edu 37 16 68867224 68867224 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_004360.3 +1 reviewed p.A824V 1.000 133 0% 106 36.8% 38 36.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin_C JPH3 57338 genome.wustl.edu 37 16 87724010 87724010 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_020655.2 +1 reviewed p.R682W 0.998 16 0.000 9 0.444 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF469 84627 genome.wustl.edu 37 16 88496482 88496482 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001127464.1 +1 reviewed p.F868 0.014 14 0.000 9 0.444 0 - - - - NULL OR1A2 26189 genome.wustl.edu 37 17 3101013 3101013 + Silent SNP C C A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_012352.1 +1 provisional p.S67 0.049 261 0% 258 46.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 C17orf85 55421 genome.wustl.edu 37 17 3717712 3717712 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001114118.1 -1 provisional p.V511I 0.260 171 0% 170 38.8% 13 23% benign(0.007) tolerated(0.67) neutral(0.003) NULL SPNS3 201305 genome.wustl.edu 37 17 4350207 4350207 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_182538.4 +1 validated p.L191 0.965 80 0% 97 43.3% 0 - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter ZBTB4 57659 genome.wustl.edu 37 17 7365612 7365612 + Missense_Mutation SNP C C A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001128833.1 -1 validated p.G897W 0.990 17 0% 35 31.4% 3 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FXR2 9513 genome.wustl.edu 37 17 7496752 7496752 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_004860.3 -1 reviewed p.G433 1.000 78 0% 91 50.5% 12 75% - - - NULL LOC100287561 100287561 genome.wustl.edu 37 17 7983322 7983322 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 XM_002343488.1 +1 model p.G98R 0.000 17 0% 13 30.8% 0 - unknown(0) - - NULL ELAC2 60528 genome.wustl.edu 37 17 12896200 12896200 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_018127.6 -1 reviewed p.G806R 0.000 62 0% 52 51.9% 118 50.8% benign(0.001) tolerated(0.83) neutral(0.001) NULL LOC100287710 100287710 genome.wustl.edu 37 17 13399760 13399760 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 XM_002343489.1 +1 model p.A48T 1.000 125 0% 114 25.4% 1 0% - - - NULL ENSG00000205325 0 genome.wustl.edu 37 17 14683332 14683332 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000379640 -1 known p.S52L 0.000 111 0% 113 44.2% 0 - unknown(0) - - NULL SMCR8 140775 genome.wustl.edu 37 17 18220942 18220942 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_144775.2 +1 validated p.S613 0.973 32 0% 44 54.5% 1 100% - - - NULL CACNB1 782 genome.wustl.edu 37 17 37331630 37331630 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_000723.3 -1 reviewed p.G538D 0.996 73 0% 76 40.8% 1 0% possibly_damaging(0.484) tolerated(0.16) neutral(0.220) NULL IGFBP4 3487 genome.wustl.edu 37 17 38612718 38612718 + Silent SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001552.2 +1 reviewed p.D220 1.000 36 0% 43 34.9% 63 23.8% - - - HMMPfam_Thyroglobulin_1,HMMSmart_TY,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin_1 KRTAP4-3 85290 genome.wustl.edu 37 17 39324148 39324148 + Missense_Mutation SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_033187.1 -1 validated p.S93G 0.000 46 0% 46 34.8% 0 - unknown(0) tolerated(0.3) - HMMPfam_Keratin_B2 ACLY 47 genome.wustl.edu 37 17 40025822 40025822 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001096.2 -1 reviewed p.R986* 1.000 195 0% 155 43.2% 40 17.5% - - - superfamily_Citrate_synthase_core UBTF 7343 genome.wustl.edu 37 17 42284892 42284892 + Missense_Mutation SNP C C A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_014233.2 -1 validated p.G700V 0.990 321 0% 277 41.5% 147 39.4% benign(0.001) tolerated(0.24) neutral(0.037) NULL DBF4B 80174 genome.wustl.edu 37 17 42809601 42809601 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_145663.1 +1 validated p.R175H 0.997 128 0% 98 39.8% 0 - probably_damaging(1) tolerated(0.17) deleterious(0.559) NULL CCDC103 388389 genome.wustl.edu 37 17 42979968 42979968 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_213607.1 +1 provisional p.A171V 0.992 60 0% 68 52.9% 4 75% possibly_damaging(0.692) deleterious(0.05) deleterious(0.593) NULL CDK5RAP3 80279 genome.wustl.edu 37 17 46058166 46058166 + Splice_Site SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_176096.1 +1 reviewed e12+2 1.000 111 0% 102 18.6% 25 96% - - - - CA10 56934 genome.wustl.edu 37 17 49731062 49731062 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001082533.1 -1 reviewed p.T167 1.000 170 0% 135 39.3% 0 - - - - HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase ANKFN1 162282 genome.wustl.edu 37 17 54520268 54520268 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_153228.2 +1 validated p.T361M 0.995 113 0% 116 44.8% 0 - possibly_damaging(0.861) deleterious(0) deleterious(0.778) superfamily_Fibronectin type III RNF43 54894 genome.wustl.edu 37 17 56435317 56435317 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_017763.4 -1 validated p.S607L 0.095 91 0% 77 37.7% 7 57.1% benign(0.323) deleterious(0) deleterious(0.545) NULL ENSG00000214176 0 genome.wustl.edu 37 17 62820882 62820882 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000397718 -1 known p.A53T 1.000 54 0% 51 43.1% 3 33.3% probably_damaging(0.968) tolerated(0.74) neutral(0.411) HMMPfam_RUN SLC39A11 201266 genome.wustl.edu 37 17 70845927 70845927 + Silent SNP A A C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_139177.3 -1 validated p.G149 0.892 18 0% 27 22.2% 4 0% - - - HMMPfam_Zip SPHK1 8877 genome.wustl.edu 37 17 74382138 74382138 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_182965.2 +1 validated p.G114D 1.000 57 0% 48 47.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DAGK_cat,HMMSmart_SM00046 MFSD11 79157 genome.wustl.edu 37 17 74738063 74738063 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_024311.2 +1 provisional p.A91 1.000 382 0% 386 41.2% 0 - - - - HMMPfam_DUF895,superfamily_MFS general substrate transporter RNF213 57674 genome.wustl.edu 37 17 78313718 78313718 + Missense_Mutation SNP A A C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000508628 +1 known p.T1851P 0.249 25 0% 25 32% 1 100% possibly_damaging(0.467) - - NULL RNF213 57674 genome.wustl.edu 37 17 78350210 78350210 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000508628 +1 known p.A4432V 0.000 141 0% 108 55.6% 10 30% benign(0) tolerated(1) - NULL NOTUM 147111 genome.wustl.edu 37 17 79911087 79911087 + Missense_Mutation SNP C C A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_178493.5 -1 validated p.W414L 1.000 16 0% 15 26.7% 32 21.8% probably_damaging(0.968) deleterious(0) deleterious(0.855) HMMPfam_PAE NDUFV2 4729 genome.wustl.edu 37 18 9122638 9122638 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_021074.4 +1 reviewed p.R143Q 1.000 118 0% 137 55.5% 342 39.1% probably_damaging(0.996) tolerated(0.43) deleterious(0.475) HMMPfam_Complex1_24kDa,superfamily_Thiordxn-like_fd ENSG00000175388 0 genome.wustl.edu 37 18 10760952 10760952 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000383408 -1 known p.A399V 1.000 109 0% 77 46.8% 0 - benign(0) tolerated(0.1) neutral(0.286) NULL NF1P5 4768 genome.wustl.edu 37 18 14156240 14156240 + Silent SNP A A T rs75352733 TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000418350 -1 known p.I86 0.094 40 0% 28 32.1% 0 - - - - NULL NPC1 4864 genome.wustl.edu 37 18 21134742 21134742 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_000271.4 -1 reviewed p.T511 0.853 78 0% 94 40.4% 1 0% - - - HMMPfam_Patched EPG5 57724 genome.wustl.edu 37 18 43440128 43440128 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_020964.2 -1 validated p.A2317V 1.000 103 0% 83 37.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ALPK2 115701 genome.wustl.edu 37 18 56149187 56149187 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_052947.3 -1 validated p.M2127I 1.000 380 0% 344 47.4% 1 0% possibly_damaging(0.609) deleterious(0) deleterious(0.655) superfamily_Protein kinase-like (PK-like) LPPR3 79948 genome.wustl.edu 37 19 814698 814699 + Frame_Shift_Del DEL AT AT - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 AT AT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_024888.1 -1 provisional p.Y217fs 0.876:0.998 - - - - - - - - - HMMPfam_PAP2,HMMSmart_acidPPc,superfamily_AcPase_VanPerase MIDN 90007 genome.wustl.edu 37 19 1255464 1255464 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_177401.4 +1 validated p.R300 0.979 15 0% 17 47.1% 35 40% - - - NULL CIRBP 1153 genome.wustl.edu 37 19 1272432 1272434 + In_Frame_Del DEL ACA ACA - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001280.2 +1 validated p.N171in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL TCF3 6929 genome.wustl.edu 37 19 1625651 1625651 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_003200.2 -1 validated p.S141 0.031 14 0.000 8 0.750 24 41.6% - - - NULL GNA11 2767 genome.wustl.edu 37 19 3121127 3121127 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_002067.2 +1 validated p.V344M 1.000 43 2.3% 46 56.5% 13 30.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_G-alpha,superfamily_SSF52540 HDGFRP2 84717 genome.wustl.edu 37 19 4499492 4499492 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001001520.1 +1 reviewed p.R527H 1.000 17 0% 27 44.4% 142 47.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KDM4B 23030 genome.wustl.edu 37 19 5119673 5119673 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_015015.2 +1 validated p.R375 1.000 38 0% 43 46.5% 3 66.6% - - - NULL INSR 3643 genome.wustl.edu 37 19 7117407 7117407 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_000208.2 -1 reviewed p.R1270H 0.980 60 0% 43 32.6% 2 0% benign(0.013) deleterious(0.01) neutral(0.406) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ZNF317 57693 genome.wustl.edu 37 19 9271271 9271271 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_020933.3 +1 provisional p.R317Q 0.001 50 0% 42 61.9% 6 33.3% probably_damaging(0.994) tolerated(0.44) neutral(0.465) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers S1PR2 9294 genome.wustl.edu 37 19 10334726 10334726 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_004230.3 -1 validated p.V286I 0.718 48 0% 40 47.5% 0 - benign(0.022) tolerated(1) neutral(0.001) HMMPfam_7tm_1,superfamily_SSF81321 KLF1 10661 genome.wustl.edu 37 19 12997892 12997892 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_006563.3 -1 reviewed p.P21 0.974 93 0% 86 11.6% 0 - - - - NULL DDX39A 10212 genome.wustl.edu 37 19 14523389 14523389 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_005804.2 -1 reviewed p.Q104* 1.000 23 0% 18 27.8% 32 21.8% - - - HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 NDUFB7 4713 genome.wustl.edu 37 19 14677610 14677610 + Missense_Mutation SNP T T G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_004146.4 -1 reviewed p.E83A 1.000 54 0% 51 29.4% 369 45.2% possibly_damaging(0.61) deleterious(0.01) deleterious(0.617) HMMPfam_NDUF_B7 CYP4F12 66002 genome.wustl.edu 37 19 15791259 15791259 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_023944.2 +1 reviewed p.T152M 0.990 73 0% 66 39.4% 0 - probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_p450,superfamily_Cytochrome P450 EPS15L1 58513 genome.wustl.edu 37 19 16536020 16536020 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_021235.1 -1 provisional p.A222 0.923 32 0% 39 53.8% 6 33.3% - - - NULL GLT25D1 79709 genome.wustl.edu 37 19 17692190 17692190 + Silent SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_024656.2 +1 provisional p.R602 0.031 40 0% 48 47.9% 25 32% - - - NULL UNC13A 23025 genome.wustl.edu 37 19 17746841 17746841 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001080421.2 -1 validated p.C1157 1.000 74 0% 76 40.8% 0 - - - - HMMPfam_DUF1041 MAST3 23031 genome.wustl.edu 37 19 18235114 18235114 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_015016.1 +1 validated p.V266I 0.889 123 0% 107 41.1% 2 50% benign(0.003) tolerated(0.16) neutral(0.059) HMMPfam_DUF1908 MAST3 23031 genome.wustl.edu 37 19 18252717 18252717 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_015016.1 +1 validated p.A715V 0.997 68 0% 61 44.3% 0 - possibly_damaging(0.804) tolerated(0.07) deleterious(0.621) NULL SSBP4 170463 genome.wustl.edu 37 19 18541711 18541711 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_032627.3 +1 validated p.A114T 1.000 43 0% 35 31.4% 65 30.7% benign(0.01) tolerated(0.08) neutral(0.300) HMMPfam_SSDP ELL 8178 genome.wustl.edu 37 19 18557151 18557151 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_006532.3 -1 validated p.R558W 0.952 40 0% 22 40.9% 7 42.8% possibly_damaging(0.932) deleterious(0) deleterious(0.823) HMMPfam_Occludin_ELL CERS1 10715 genome.wustl.edu 37 19 18995061 18995061 + Missense_Mutation SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_021267.3 -1 reviewed p.M142T 1.000 54 0% 61 41% 1 100% possibly_damaging(0.561) tolerated(0.35) neutral(0.212) HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 CILP2 148113 genome.wustl.edu 37 19 19650495 19650495 + Silent SNP C C A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_153221.2 +1 validated p.T24 0.000 31 0% 30 50% 0 - - - - NULL ZNF420 147923 genome.wustl.edu 37 19 37619048 37619048 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_144689.3 +1 provisional p.H385 0.997 134 0% 113 41.6% 2 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF607 84775 genome.wustl.edu 37 19 38190423 38190423 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_032689.4 -1 validated p.G203 0.715 138 0% 171 40.9% 1 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PSMD8 5714 genome.wustl.edu 37 19 38869925 38869925 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_002812.4 +1 reviewed p.L194 1.000 97 0% 115 48.7% 157 42.6% - - - HMMPfam_SAC3_GANP RYR1 6261 genome.wustl.edu 37 19 39034482 39034482 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_000540.2 +1 reviewed p.H3993 1.000 77 0% 96 37.5% 0 - - - - HMMPfam_RIH_assoc CYP2S1 29785 genome.wustl.edu 37 19 41709508 41709508 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_030622.6 +1 reviewed p.R377Q 0.000 24 0% 19 31.6% 0 - benign(0.392) tolerated(0.4) neutral(0.142) HMMPfam_p450,superfamily_Cytochrome P450 CEACAM21 90273 genome.wustl.edu 37 19 42091797 42091797 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001098506.1 +1 validated p.A267T 0.056 89 0% 78 42.3% 0 - possibly_damaging(0.948) tolerated(0.55) neutral(0.398) NULL ERCC1 2067 genome.wustl.edu 37 19 45923589 45923589 + Missense_Mutation SNP A A T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_202001.2 -1 reviewed p.F140I 1.000 41 0% 48 39.6% 100 40% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Rad10 QPCTL 54814 genome.wustl.edu 37 19 46205071 46205071 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_017659.3 +1 validated p.R301H 0.994 59 0% 55 49.1% 27 70.3% possibly_damaging(0.942) deleterious(0.05) deleterious(0.732) HMMPfam_Peptidase_M28,superfamily_SSF53187 DMPK 1760 genome.wustl.edu 37 19 46283216 46283216 + Missense_Mutation SNP C C A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001081563.1 -1 reviewed p.K34N 0.001 147 0% 117 56.4% 3 33.3% benign(0.201) deleterious(0) neutral(0.464) NULL PRKD2 25865 genome.wustl.edu 37 19 47207593 47207595 + In_Frame_Del DEL GAG GAG - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001079880.1 -1 reviewed p.S242in_frame_del 0.138:0.145:0.144 - - - - - - - - - superfamily_Cysteine-rich domain SEPW1 6415 genome.wustl.edu 37 19 48284609 48284609 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000396715 +1 known p.A84 0.929 122 0% 112 42% 388 38.4% - - - NULL LIG1 3978 genome.wustl.edu 37 19 48654555 48654555 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_000234.1 -1 reviewed p.A170T 0.000 151 0% 133 49.6% 10 70% benign(0.002) tolerated(0.46) neutral(0.012) NULL FCGRT 2217 genome.wustl.edu 37 19 50027855 50027855 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001136019.2 +1 reviewed p.L231 0.663 58 0% 53 34% 190 32.6% - - - HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin PTOV1 53635 genome.wustl.edu 37 19 50361835 50361835 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_017432.3 +1 provisional p.S322 0.118 19 0% 20 35% 574 42.6% - - - NULL SIGLEC5 8778 genome.wustl.edu 37 19 52130419 52130419 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_003830.2 -1 validated p.C455 0.014 101 0% 93 44.1% 0 - - - - NULL EPS8L1 54869 genome.wustl.edu 37 19 55591638 55591638 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_133180.2 +1 reviewed p.R141C 0.147 17 0% 11 63.6% 9 55.5% benign(0.015) tolerated(0.07) neutral(0.320) HMMSmart_SM00462,HMMPfam_PTB PPP6R1 22870 genome.wustl.edu 37 19 55756917 55756917 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_014931.3 -1 validated p.L119 1.000 31 0% 37 43.2% 5 60% - - - NULL BRSK1 84446 genome.wustl.edu 37 19 55805697 55805697 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_032430.1 +1 validated p.G204R 1.000 146 0% 163 44.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CPXM1 56265 genome.wustl.edu 37 20 2778658 2778658 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_019609.4 -1 reviewed p.R213W 0.011 62 0% 69 44.9% 14 0% probably_damaging(0.982) tolerated(0.08) deleterious(0.726) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like PLCB1 23236 genome.wustl.edu 37 20 8665628 8665628 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_015192.2 +1 reviewed p.N304 0.998 141 0% 148 48% 0 - - - - HMMPfam_efhand_like,superfamily_EF-hand ABHD12 26090 genome.wustl.edu 37 20 25290161 25290161 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_015600.3 -1 validated p.A224T 1.000 45 0% 65 35.4% 28 25% possibly_damaging(0.794) tolerated(0.08) deleterious(0.598) HMMPfam_Abhydrolase_1,superfamily_SSF53474 NINL 22981 genome.wustl.edu 37 20 25470611 25470611 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_025176.4 -1 validated p.R499H 0.894 201 0% 165 41.8% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC32A1 140679 genome.wustl.edu 37 20 37356902 37356902 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_080552.2 +1 reviewed p.A400T 1.000 99 0% 79 36.7% 0 - benign(0.036) tolerated(0.26) neutral(0.036) HMMPfam_Aa_trans RIMS4 140730 genome.wustl.edu 37 20 43384857 43384857 + Missense_Mutation SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_182970.2 -1 validated p.D243G 1.000 43 0% 34 38.2% 0 - possibly_damaging(0.793) deleterious(0.02) deleterious(0.681) NULL SDC4 6385 genome.wustl.edu 37 20 43959164 43959164 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_002999.2 -1 reviewed p.G96E 0.077 103 0% 101 51.5% 29 48.2% probably_damaging(0.977) tolerated(0.59) neutral(0.423) NULL DOK5 55816 genome.wustl.edu 37 20 53208299 53208299 + Missense_Mutation SNP G G T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_018431.3 +1 reviewed p.R185L 1.000 240 0% 241 42.7% 2 0% probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_IRS,HMMSmart_SM00310,superfamily_PH domain-like KRTAP20-2 337976 genome.wustl.edu 37 21 32007684 32007684 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_181616.1 +1 provisional p.G34 0.017 327 0% 259 42.5% 0 - - - - NULL SYNJ1 8867 genome.wustl.edu 37 21 34012038 34012038 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_003895.3 -1 validated p.A1214T 0.869 201 0% 193 43.5% 0 - possibly_damaging(0.903) tolerated(0.13) deleterious(0.611) NULL SON 6651 genome.wustl.edu 37 21 34923049 34923049 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_138927.1 +1 reviewed p.T504 1.000 85 0% 55 43.6% 2 50% - - - NULL DYRK1A 1859 genome.wustl.edu 37 21 38853130 38853130 + Splice_Site SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001396.3 +1 reviewed e4+2 1.000 118 0% 124 43.5% 2 100% - - - - BRWD1 54014 genome.wustl.edu 37 21 40622742 40622745 + Frame_Shift_Del DEL TCTT TCTT - novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 TCTT TCTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_018963.3 -1 reviewed p.K776fs 0.653:0.951:0.999:1.000 - - - - - - - - - superfamily_WD40 repeat-like COL6A1 1291 genome.wustl.edu 37 21 47410311 47410311 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001848.2 +1 reviewed p.G326D 0.999 24 0% 19 63.2% 30 6.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Collagen POTEH 23784 genome.wustl.edu 37 22 16287605 16287605 + Missense_Mutation SNP A A T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001136213.1 -1 provisional p.L94H 0.013 194 0.5% 195 22.1% 0 - benign(0.258) deleterious(0) deleterious(0.472) NULL C22orf25 128989 genome.wustl.edu 37 22 20024461 20024461 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000401833 +1 known p.A8V 0.000 83 0% 81 45.7% 1 0% benign(0) deleterious(0) neutral(0.445) NULL ZNF280A 129025 genome.wustl.edu 37 22 22868784 22868784 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_080740.3 -1 reviewed p.E391K 0.936 159 0% 169 36.7% 1 0% benign(0.227) deleterious(0) neutral(0.467) NULL IGLV2-18 28814 genome.wustl.edu 37 22 23077391 23077391 + Missense_Mutation SNP G G C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000390310 +1 known p.W56C 0.997 160 0% 129 14% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin GATSL3 652968 genome.wustl.edu 37 22 30683426 30683426 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001037666.2 -1 validated p.A103V 0.989 22 0% 11 36.4% 9 33.3% possibly_damaging(0.824) tolerated(0.05) deleterious(0.657) NULL PRR14L 253143 genome.wustl.edu 37 22 32108841 32108841 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_173566.2 -1 validated p.G1662R 0.939 98 0% 80 36.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZBED4 9889 genome.wustl.edu 37 22 50277791 50277791 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_014838.2 +1 validated p.V161M 1.000 47 0% 53 45.3% 3 66.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-BED,HMMSmart_SM00614 ENSG00000211459 0 genome.wustl.edu 37 MT 944 944 + RNA SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000389680 +1 known NULL NULL 71 0% 97 93.8% 2481 91.2% - - - - ZBED1 9189 genome.wustl.edu 37 X 2406844 2406844 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_004729.3 -1 reviewed p.A639 0.985 68 1.5% 71 42.3% 10 60% - - - HMMPfam_hATC ZBED1 9189 genome.wustl.edu 37 X 2407647 2407647 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_004729.3 -1 reviewed p.A372T 0.967 59 0% 48 43.8% 5 60% benign(0.013) tolerated(0.65) neutral(0.004) NULL TBL1X 6907 genome.wustl.edu 37 X 9660259 9660259 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001139466.1 +1 reviewed p.P286S 1.000 127 0% 133 47.4% 0 - benign(0.108) tolerated(0.14) neutral(0.258) HMMSmart_SM00320 SHROOM2 357 genome.wustl.edu 37 X 9863222 9863222 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001649.2 +1 reviewed p.S425N 0.000 66 0% 62 33.9% 1 0% benign(0.039) tolerated(0.59) neutral(0.006) NULL SHROOM2 357 genome.wustl.edu 37 X 9863522 9863522 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001649.2 +1 reviewed p.G525D 0.000 9 0.000 13 0.385 1 0% benign(0) tolerated(0.51) neutral(0.009) NULL EIF2S3 1968 genome.wustl.edu 37 X 24075832 24075832 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001415.3 +1 reviewed p.T115M 1.000 123 0% 112 48.2% 37 13.5% benign(0.002) deleterious(0) neutral(0.445) HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases FAM47C 442444 genome.wustl.edu 37 X 37028001 37028001 + Silent SNP C C T rs149060980 by1000genomes TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001013736.2 +1 validated p.R506 0.000 176 0% 188 40.4% 0 - - - - NULL BCOR 54880 genome.wustl.edu 37 X 39931658 39931658 + Missense_Mutation SNP T T C novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001123385.1 -1 reviewed p.T981A 1.000 56 0% 48 43.8% 2 50% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL USP9X 8239 genome.wustl.edu 37 X 41089043 41089043 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001039590.2 +1 reviewed p.A2481V 0.098 154 0% 177 44.6% 9 22.2% benign(0) tolerated(0.54) neutral(0.007) NULL SLC35A2 7355 genome.wustl.edu 37 X 48762204 48762204 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_005660.1 -1 provisional p.A328T 1.000 78 0% 67 55.2% 11 72.7% benign(0.097) tolerated(0.35) neutral(0.028) HMMPfam_Nuc_sug_transp,superfamily_Multidrug resistance efflux transporter EmrE CXorf67 340602 genome.wustl.edu 37 X 51149947 51149947 + Missense_Mutation SNP G G T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000342995 +1 known p.A27S 0.000 75 0% 58 44.8% 0 - probably_damaging(0.967) deleterious(0) deleterious(0.853) NULL MED12 9968 genome.wustl.edu 37 X 70345250 70345250 + Missense_Mutation SNP G G T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_005120.2 +1 reviewed p.G759V 1.000 73 0% 64 46.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KLHL4 56062 genome.wustl.edu 37 X 86877277 86877277 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_057162.2 +1 reviewed p.L331F 1.000 172 0% 159 46.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BACK PCDH19 57526 genome.wustl.edu 37 X 99661801 99661801 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001105243.1 -1 reviewed p.E599K 1.000 136 0% 135 35.6% 0 - possibly_damaging(0.948) deleterious(0.04) deleterious(0.740) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDH19 57526 genome.wustl.edu 37 X 99662990 99662990 + Silent SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001105243.1 -1 reviewed p.S202 0.094 55 0% 57 36.8% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin MIR1911 100302222 genome.wustl.edu 37 X 113997762 113997762 + RNA SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000410783 +1 known NULL 1.000 124 0% 109 45.9% 0 - - - - - HTR2C 3358 genome.wustl.edu 37 X 114141212 114141212 + Missense_Mutation SNP A A G novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_000868.2 +1 reviewed p.N204S 0.956 118 0% 81 34.6% 0 - benign(0.054) tolerated(0.3) neutral(0.032) HMMPfam_7tm_1,superfamily_SSF81321 HS6ST2 90161 genome.wustl.edu 37 X 132090983 132090983 + Missense_Mutation SNP C C T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_001077188.1 -1 reviewed p.C267Y 1.000 43 0% 35 34.3% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HS6ST FMR1NB 158521 genome.wustl.edu 37 X 147090229 147090229 + Silent SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_152578.2 +1 validated p.R210 0.787 385 0% 395 40.3% 0 - - - - NULL AFF2 2334 genome.wustl.edu 37 X 148048589 148048589 + Silent SNP C C A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_002025.3 +1 reviewed p.P1061 1.000 264 0% 214 38.8% 0 - - - - HMMPfam_AF-4 SLC6A8 6535 genome.wustl.edu 37 X 152959495 152959495 + Missense_Mutation SNP G G T novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000328897 +1 known p.R431M 0.000 34 0% 42 38.1% 0 - benign(0.146) deleterious(0) neutral(0.457) HMMPfam_SNF PLXNB3 5365 genome.wustl.edu 37 X 153035876 153035876 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 NM_005393.2 +1 reviewed p.V624I 0.000 92 0% 69 43.5% 1 0% benign(0.227) tolerated(0.13) neutral(0.275) HMMSmart_PSI TAZ 6901 genome.wustl.edu 37 X 153648448 153648448 + Missense_Mutation SNP G G A novel TCGA-BS-A0U8-01A-11D-A10B-09 TCGA-BS-A0U8-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200a23d8-7c59-45c7-978c-f734c0f3ed83 7fde9da9-d516-42af-af38-d7765b5957f5 ENST00000369776 +1 known p.G152R 0.000 113 0% 96 45.8% 5 0% unknown(0) tolerated(0.49) - NULL