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 CHD5 26038 genome.wustl.edu 37 1 6185184 6185184 + Missense_Mutation SNP C C T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_015557.1 -1 provisional p.R1457Q 0.965 25 0% 30 20% - - probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_DUF1086 CSMD2 114784 genome.wustl.edu 37 1 34033265 34033265 + Missense_Mutation SNP G G A novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_052896.3 -1 validated p.R2747C 1.000 52 0% 71 14.1% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain OR6P1 128366 genome.wustl.edu 37 1 158533225 158533225 + Missense_Mutation SNP C C T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 ENST00000334632 -1 known p.R57H 0.101 31 0% 29 44.8% - - probably_damaging(0.984) tolerated(0.06) deleterious(0.753) HMMPfam_7tm_1,superfamily_SSF81321 LMX1A 4009 genome.wustl.edu 37 1 165173246 165173246 + Silent SNP G G A novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_177398.3 -1 validated p.S340 1.000 41 0% 16 25% - - - - - NULL LOC100287235 100287235 genome.wustl.edu 37 2 65298920 65298920 + Missense_Mutation SNP G G A novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 XM_002342207.1 -1 model p.P55L 0.549 19 0% 19 31.6% - - - - - NULL ERBB4 2066 genome.wustl.edu 37 2 212488692 212488692 + Silent SNP C C T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 ENST00000260943 -1 known p.R709K 0.996 110 0% 122 12.3% - - - - - HMMPfam_Pkinase_Tyr PASK 23178 genome.wustl.edu 37 2 242076557 242076557 + Silent SNP G G A novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 ENST00000433589 -1 known p.A148V 0.000 22 0% 24 33.3% - - - - - NULL COL7A1 1294 genome.wustl.edu 37 3 48621048 48621048 + Missense_Mutation SNP C C T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_000094.3 -1 reviewed p.G1448S 1.000 27 0% 23 26.1% - - unknown(0) deleterious(0) - HMMPfam_Collagen IMPDH2 3615 genome.wustl.edu 37 3 49065918 49065918 + Silent SNP C C A novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_000884.2 -1 reviewed p.L65 0.427 40 0% 45 22.2% - - - - - HMMPfam_IMPDH,superfamily_SSF51412 PET112 5188 genome.wustl.edu 37 4 152622574 152622574 + Missense_Mutation SNP C C G novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_004564.2 -1 validated p.Q368H 0.099 42 0% 44 20.5% - - possibly_damaging(0.456) tolerated(0.16) neutral(0.209) HMMPfam_GatB FBXW7 55294 genome.wustl.edu 37 4 153268138 153268138 + Nonsense_Mutation SNP G G A novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_033632.2 -1 reviewed p.R224* 1.000 162 0% 167 46.7% - - - - - superfamily_WD40 repeat-like SPOCK3 50859 genome.wustl.edu 37 4 167656107 167656107 + Missense_Mutation SNP C C T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_016950.2 -1 validated p.D426N 1.000 276 0% 224 11.6% - - unknown(0) - - NULL SORBS2 8470 genome.wustl.edu 37 4 186536018 186536018 + Silent SNP G G A novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_021069.4 -1 reviewed p.N950 0.569 199 0% 176 27.8% - - - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain WNT8A 7478 genome.wustl.edu 37 5 137426524 137426524 + Missense_Mutation SNP G G A novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_058244.2 +1 reviewed p.R273H 1.000 35 0% 50 44% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_wnt,HMMSmart_SM00097 PCDHA3 56145 genome.wustl.edu 37 5 140183011 140183011 + Silent SNP C C T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_018906.2 +1 reviewed p.S743 0.989 34 0% 61 16.4% - - - - - NULL PCDHB2 56133 genome.wustl.edu 37 5 140476542 140476542 + Missense_Mutation SNP C C T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_018936.2 +1 reviewed p.S723L 0.000 45 0% 59 13.6% - - probably_damaging(0.984) deleterious(0.01) deleterious(0.836) NULL PCDHB5 26167 genome.wustl.edu 37 5 140516510 140516510 + Silent SNP C C T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_015669.2 +1 reviewed p.R498 0.007 33 0% 54 31.5% - - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin OR2J2 26707 genome.wustl.edu 37 6 29141999 29141999 + Missense_Mutation SNP A A G novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_030905.2 +1 validated p.N196S 0.332 102 0% 125 17.6% - - probably_damaging(0.985) tolerated(0.13) deleterious(0.684) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GSTA5 221357 genome.wustl.edu 37 6 52697738 52697738 + Nonsense_Mutation SNP C C T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_153699.1 -1 provisional p.W155* 0.998 115 0% 119 16.8% - - - - - HMMPfam_GST_C,superfamily_GST_C_like ESR1 2099 genome.wustl.edu 37 6 152382234 152382234 + Silent SNP C C G novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 ENST00000427531 +1 known p.S353* 1.000 148 0% 131 36.6% - - - - - HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain MAS1 4142 genome.wustl.edu 37 6 160328587 160328587 + Silent SNP G G A novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_002377.2 +1 reviewed p.T200 0.791 70 0% 74 27% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 GTF2IRD1 9569 genome.wustl.edu 37 7 74015504 74015504 + Silent SNP C C T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_016328.1 +1 reviewed p.L936 1.000 62 0% 66 54.5% - - - - - NULL DCAF4L2 138009 genome.wustl.edu 37 8 88885215 88885215 + Missense_Mutation SNP C C T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_152418.3 -1 validated p.V329M 0.993 39 0% 66 34.8% - - benign(0.004) tolerated(0.1) neutral(0.286) HMMSmart_WD40,superfamily_WD40_like KANK1 23189 genome.wustl.edu 37 9 740853 740853 + Silent SNP C C T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_015158.2 +1 reviewed p.L1205 0.001 53 0% 38 36.8% - - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK SHC3 53358 genome.wustl.edu 37 9 91660725 91660725 + Silent SNP A A G novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_016848.4 -1 validated p.Y379 0.978 153 0% 122 21.3% - - - - - NULL BRD3 8019 genome.wustl.edu 37 9 136905382 136905382 + Missense_Mutation SNP C C T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_007371.3 -1 reviewed p.V473M 1.000 20 0% 30 63.3% - - possibly_damaging(0.46) tolerated(0.13) neutral(0.403) NULL ANKRD30A 91074 genome.wustl.edu 37 10 37441023 37441023 + Missense_Mutation SNP T T G novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_052997.2 +1 validated p.Y505D 0.004 298 0.3% 269 18.2% - - benign(0) tolerated(1) - NULL LOC646360 646360 genome.wustl.edu 37 10 37627448 37627450 + RNA DEL ATC ATC - novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 ATC ATC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 XR_078419.1 +1 model NULL 1.000:1.000:1.000 - - - - - - - - - - MYOF 26509 genome.wustl.edu 37 10 95085591 95085591 + Missense_Mutation SNP T T C novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_013451.3 -1 reviewed p.I1755V 0.952 85 0% 77 55.8% - - possibly_damaging(0.767) tolerated(0.13) deleterious(0.537) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) HMX2 3167 genome.wustl.edu 37 10 124907997 124907997 + Missense_Mutation SNP C C T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_005519.1 +1 provisional p.R35W 0.983 12 0% 19 31.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ADAM12 8038 genome.wustl.edu 37 10 127787041 127787041 + Missense_Mutation SNP C C A novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_003474.4 -1 reviewed p.G317C 1.000 32 0% 40 45% - - probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" TCERG1L 256536 genome.wustl.edu 37 10 133058658 133058658 + Silent SNP G G A novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_174937.3 -1 validated p.I240 0.022 20 0% 24 45.8% - - - - - NULL MUC5B 727897 genome.wustl.edu 37 11 1270433 1270433 + Missense_Mutation SNP C C T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_002458.1 +1 validated p.S4111L 0.045 110 0% 113 16.8% - - unknown(0) - - NULL EIF4G2 1982 genome.wustl.edu 37 11 10823295 10823295 + Missense_Mutation SNP C C G novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 ENST00000429377 -1 known p.Q515H 1.000 82 0% 88 13.6% - - benign(0.002) tolerated(0.21) neutral(0.044) NULL QSER1 79832 genome.wustl.edu 37 11 32975639 32975641 + In_Frame_Del DEL GAG GAG - novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_001076786.1 +1 provisional p.E1344in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL CTNND1 1500 genome.wustl.edu 37 11 57572170 57572171 + Frame_Shift_Ins INS - - ACTT novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_001085458.1 +1 validated p.R549fs 1.000:0.998 - - - - - - - - - HMMSmart_SM00185,superfamily_ARM repeat AHNAK 79026 genome.wustl.edu 37 11 62286963 62286963 + Nonsense_Mutation SNP T T A novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_001620.1 -1 validated p.K4976* 1.000 44 0% 49 42.9% - - - - - NULL DYNC2H1 79659 genome.wustl.edu 37 11 103068672 103068672 + Silent SNP C C T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_001080463.1 +1 reviewed p.Y2573 1.000 66 0% 40 20% - - - - - NULL CD163L1 283316 genome.wustl.edu 37 12 7531680 7531680 + Silent SNP C C T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_174941.4 -1 reviewed p.S755 0.000 42 0% 38 44.7% - - - - - HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like OR6C1 390321 genome.wustl.edu 37 12 55714571 55714571 + Missense_Mutation SNP A A T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_001005182.1 +1 provisional p.N63I 0.973 79 0% 60 50% - - possibly_damaging(0.948) deleterious(0) deleterious(0.836) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CEP290 80184 genome.wustl.edu 37 12 88519137 88519137 + Missense_Mutation SNP C C G novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_025114.3 -1 reviewed p.E359Q 1.000 131 0% 143 11.2% - - probably_damaging(0.999) tolerated(0.23) deleterious(0.532) NULL GNPTAB 79158 genome.wustl.edu 37 12 102147163 102147163 + Missense_Mutation SNP C C T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_024312.4 -1 reviewed p.E1197K 1.000 73 0% 78 11.5% - - probably_damaging(0.996) tolerated(0.06) deleterious(0.784) NULL SLITRK5 26050 genome.wustl.edu 37 13 88329608 88329608 + Silent SNP C C A novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_015567.1 +1 validated p.G655 0.002 48 0% 47 12.8% - - - - - NULL CPSF2 53981 genome.wustl.edu 37 14 92597338 92597338 + Missense_Mutation SNP A A G novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_017437.1 +1 validated p.I4V 1.000 84 0% 81 45.7% - - benign(0.169) tolerated(0.36) neutral(0.036) NULL MYO5A 4644 genome.wustl.edu 37 15 52681434 52681434 + Splice_Site SNP C C T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_000259.3 -1 reviewed e13+1 1.000 104 0% 70 32.9% - - - - - - ADAMTSL3 57188 genome.wustl.edu 37 15 84683327 84683327 + Missense_Mutation SNP G G T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_207517.2 +1 validated p.R1336I 1.000 136 0% 127 14.2% - - benign(0.167) tolerated(0.06) neutral(0.338) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin TP53 7157 genome.wustl.edu 37 17 7578500 7578500 + Nonsense_Mutation SNP G G A novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_000546.4 -1 reviewed p.Q144* 0.999 29 0% 26 57.7% - - - - - superfamily_p53-like transcription factors,HMMPfam_P53 SPOP 8405 genome.wustl.edu 37 17 47696599 47696599 + Missense_Mutation SNP T T C novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_001007226.1 -1 reviewed p.M117V 1.000 130 0% 149 75.8% - - possibly_damaging(0.774) tolerated(0.2) neutral(0.337) HMMPfam_MATH,HMMSmart_SM00061,superfamily_TRAF domain-like RNF213 57674 genome.wustl.edu 37 17 78320688 78320688 + Silent SNP C C T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 ENST00000508628 +1 known p.D2851 1.000 38 0% 29 48.3% - - - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ANKRD30B 374860 genome.wustl.edu 37 18 14763908 14763909 + Frame_Shift_Ins INS - - AT novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_001145029.1 +1 validated p.K348fs 0.009:0.009 - - - - - - - - - NULL NOL4 8715 genome.wustl.edu 37 18 31599446 31599446 + Missense_Mutation SNP C C T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_003787.3 -1 validated p.E298K 1.000 145 0% 150 16% - - probably_damaging(0.987) tolerated(0.11) deleterious(0.708) NULL LOC284288 284288 genome.wustl.edu 37 18 55506056 55506056 + Frame_Shift_Del DEL G G - rs141969765 byCluster;by1000genomes TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 XM_210365.1 +1 model p.E117fs 1.000 - - - - - - - - - NULL ZNF831 128611 genome.wustl.edu 37 20 57766598 57766598 + Missense_Mutation SNP C C T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_178457.1 +1 provisional p.A175V 0.179 8 0.000 20 0.700 - - possibly_damaging(0.495) tolerated(0.23) neutral(0.207) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 MEI1 150365 genome.wustl.edu 37 22 42166878 42166878 + Silent SNP C C A novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_152513.3 +1 validated p.T819 0.000 82 0% 61 31.1% - - - - - NULL ENSG00000212884 0 genome.wustl.edu 37 GL000205.1 117657 117657 + Silent SNP G G T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 ENST00000391571 +1 known p.T96 NULL 13 0% 37 21.6% - - - - - HMMPfam_2-Hacid_dh ENSG00000212884 0 genome.wustl.edu 37 GL000205.1 117722 117722 + Missense_Mutation SNP T T C novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 ENST00000391571 +1 known p.I118T NULL 22 0% 29 20.7% - - benign(0) tolerated(1) - NULL FAM47A 158724 genome.wustl.edu 37 X 34149707 34149707 + Missense_Mutation SNP G G C novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_203408.3 -1 validated p.T230S 0.001 38 0% 37 35.1% - - probably_damaging(0.998) tolerated(0.13) deleterious(0.727) NULL DDX3X 1654 genome.wustl.edu 37 X 41202521 41202521 + Missense_Mutation SNP G G C novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_001356.3 +1 reviewed p.R199P 1.000 84 0% 94 31.9% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases USP11 8237 genome.wustl.edu 37 X 47101047 47101047 + Silent SNP G G A novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_004651.3 +1 reviewed p.V419 1.000 89 0% 121 38% - - - - - HMMPfam_UCH,superfamily_SSF54001 ZNF81 347344 genome.wustl.edu 37 X 47775608 47775608 + Silent SNP T T C novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_007137.3 +1 reviewed p.T521 0.999 49 0% 33 42.4% - - - - - superfamily_SSF57667 HDAC6 10013 genome.wustl.edu 37 X 48673381 48673381 + Missense_Mutation SNP G G A novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_006044.2 +1 reviewed p.A358T 0.984 27 0% 29 34.5% - - benign(0.001) deleterious(0.02) neutral(0.383) HMMPfam_Hist_deacetyl,superfamily_SSF52768 RHOXF2B 727940 genome.wustl.edu 37 X 119211110 119211110 + Missense_Mutation SNP C C T novel TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_001099685.1 -1 provisional p.G75R 0.000 43 0% 58 44.8% - - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL OCRL 4952 genome.wustl.edu 37 X 128696373 128696373 + Missense_Mutation SNP C C T rs137853263 byCluster TCGA-DI-A1NN-01A-11D-A16D-09 TCGA-DI-A1NN-11A-21D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3ea3cc1-a60e-4cdf-aad1-fd89bd3a9041 7abfc125-0b77-4a32-98e9-350c6c66a770 NM_000276.3 +1 reviewed p.R318C 1.000 139 0% 132 36.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like