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 NADK 65220 genome.wustl.edu 37 1 1685773 1685773 + Missense_Mutation SNP T T A novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_023018.3 -1 validated p.N298I 1.000 31 0% 32 46.9% - - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_NAD_kinase,superfamily_NAD kinase (Pfam 01513) ARHGEF19 128272 genome.wustl.edu 37 1 16535180 16535181 + Frame_Shift_Ins INS - - CTGTGTGTGT novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_153213.3 -1 provisional p.P123fs 1.000:0.999 - - - - - - - - - NULL ARID1A 8289 genome.wustl.edu 37 1 27057741 27057742 + Frame_Shift_Ins INS - - CC novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_006015.4 +1 reviewed p.Y484fs 0.464:0.694 - - - - - - - - - NULL GCLM 2730 genome.wustl.edu 37 1 94354601 94354601 + Missense_Mutation SNP C C T novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_002061.2 -1 reviewed p.R257K 1.000 224 0% 245 37.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRIG2 9860 genome.wustl.edu 37 1 113661869 113661869 + Missense_Mutation SNP C C T novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_014813.1 +1 provisional p.R899W 0.998 67 0% 54 40.7% - - probably_damaging(0.994) tolerated(0.06) deleterious(0.774) NULL POLR3GL 84265 genome.wustl.edu 37 1 145460194 145460194 + Missense_Mutation SNP C C T novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_032305.1 -1 provisional p.R10H 0.997 27 0% 33 45.5% - - possibly_damaging(0.499) deleterious(0.03) deleterious(0.531) NULL CD5L 922 genome.wustl.edu 37 1 157804385 157804385 + Missense_Mutation SNP C C T novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_005894.2 -1 validated p.R177Q 0.998 63 0% 94 43.6% - - possibly_damaging(0.834) tolerated(0.1) deleterious(0.605) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like LYST 1130 genome.wustl.edu 37 1 235963685 235963685 + Missense_Mutation SNP C C A novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_000081.2 -1 reviewed p.G1314V 1.000 121 0% 71 39.4% - - possibly_damaging(0.876) tolerated(0.07) deleterious(0.660) NULL ADRA2B 151 genome.wustl.edu 37 2 96780986 96780987 + In_Frame_Ins INS - - TCCTCCTCT rs4426564 byCluster;byFrequency;by2Hit2Allele;by1000genomes TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 ENST00000409345 -1 known p.305in_frame_insEEE 0.205:0.289 - - - - - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like KANSL3 55683 genome.wustl.edu 37 2 97302679 97302679 + Missense_Mutation SNP C C A novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_001115016.1 -1 validated p.R65L 1.000 31 0% 54 40.7% - - possibly_damaging(0.456) tolerated(0.13) neutral(0.402) NULL BUB1 699 genome.wustl.edu 37 2 111398898 111398898 + Missense_Mutation SNP G G C novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_004336.3 -1 reviewed p.F923L 1.000 143 0% 126 42.9% - - probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like) SCN9A 6335 genome.wustl.edu 37 2 167133582 167133588 + Frame_Shift_Del DEL TCCACTC TCCACTC - novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 TCCACTC TCCACTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_002977.3 -1 reviewed p.E916fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels ARMC9 80210 genome.wustl.edu 37 2 232225535 232225536 + Frame_Shift_Ins INS - - G rs35889244 byCluster;by1000genomes TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 ENST00000359743 +1 known p.P735fs 0.000:0.000 - - - - - - - - - NULL ADAMTS9 56999 genome.wustl.edu 37 3 64666930 64666930 + Missense_Mutation SNP C C T novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_182920.1 -1 reviewed p.R209H 0.003 417 0.2% 479 40.9% - - benign(0) tolerated(0.3) neutral(0.029) NULL SI 6476 genome.wustl.edu 37 3 164786523 164786523 + Missense_Mutation SNP C C T novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_001041.3 -1 reviewed p.R157H 1.000 241 0.8% 214 36% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRRIQ4 344657 genome.wustl.edu 37 3 169540297 169540297 + Silent SNP C C T novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_001080460.1 +1 provisional p.D196 0.387 24 0% 31 29% - - - - - HMMPfam_LRR_1,superfamily_SSF52058 LYAR 55646 genome.wustl.edu 37 4 4276125 4276125 + Silent SNP G G A novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_001145725.1 -1 validated p.G267 0.000 185 0% 260 40.8% - - - - - NULL FAM184B 27146 genome.wustl.edu 37 4 17640922 17640922 + Missense_Mutation SNP T T C novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_015688.1 -1 validated p.S873G 1.000 27 0% 31 38.7% - - possibly_damaging(0.94) deleterious(0.03) deleterious(0.750) NULL PIK3R1 5295 genome.wustl.edu 37 5 67591135 67591149 + In_Frame_Del DEL GAGAGACCAATACTT GAGAGACCAATACTT - novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 GAGAGACCAATACTT GAGAGACCAATACTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_181523.1 +1 reviewed p.RDQYL577in_frame_del 0.016:0.975:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.989:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL RHOBTB3 22836 genome.wustl.edu 37 5 95115960 95115960 + Silent SNP G G A novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 ENST00000510313 +1 known p.R11Q 0.001 93 0% 108 43.5% - - - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB PCDHA2 56146 genome.wustl.edu 37 5 140174749 140174749 + Missense_Mutation SNP C C T novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_018905.2 +1 reviewed p.A67V 0.537 48 0% 45 46.7% - - benign(0.001) tolerated(1) - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like ANKS1A 23294 genome.wustl.edu 37 6 35053569 35053569 + Silent SNP G G A novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_015245.2 +1 validated p.T1053 0.399 43 0% 53 32.1% - - - - - HMMPfam_PID,HMMSmart_PTB,superfamily_SSF50729 TTK 7272 genome.wustl.edu 37 6 80732173 80732173 + Missense_Mutation SNP G G A novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_003318.4 +1 reviewed p.R414Q 0.003 94 0% 85 42.4% - - benign(0.006) tolerated(0.35) neutral(0.021) NULL ASCC3 10973 genome.wustl.edu 37 6 101248252 101248252 + Missense_Mutation SNP C C G novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_006828.2 -1 validated p.E351Q 1.000 579 0.2% 525 38.3% - - possibly_damaging(0.492) tolerated(0.58) neutral(0.169) NULL MGAM 8972 genome.wustl.edu 37 7 141747587 141747587 + Missense_Mutation SNP G G A novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_004668.2 +1 reviewed p.R834Q 0.997 145 0% 160 34.4% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KEL 3792 genome.wustl.edu 37 7 142651032 142651032 + Silent SNP G G A novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_000420.2 -1 reviewed p.P312 0.986 57 0% 92 38% - - - - - "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" PCM1 5108 genome.wustl.edu 37 8 17838200 17838200 + Silent SNP C C T novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_006197.3 +1 validated p.S1348 1.000 123 0% 76 35.5% - - - - - NULL SULF1 23213 genome.wustl.edu 37 8 70498601 70498601 + Missense_Mutation SNP G G T novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_001128204.1 +1 validated p.G141V 1.000 144 0% 95 33.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core SNTB1 6641 genome.wustl.edu 37 8 121644790 121644790 + Missense_Mutation SNP A A C novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_021021.3 -1 reviewed p.V297G 0.998 94 0% 155 40% - - possibly_damaging(0.49) deleterious(0) deleterious(0.608) HMMSmart_SM00233 CYP11B1 1584 genome.wustl.edu 37 8 143958607 143958607 + Missense_Mutation SNP G G A novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_000497.3 -1 reviewed p.R143W 0.046 27 0% 56 46.4% - - benign(0.002) tolerated(0.2) neutral(0.049) HMMPfam_p450,superfamily_Cytochrome_P450 FAM189A2 9413 genome.wustl.edu 37 9 72002911 72002912 + In_Frame_Ins INS - - GTTATA novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 ENST00000377216 +1 known p.20in_frame_insYS 0.000:0.000 - - - - - - - - - NULL ZNF367 195828 genome.wustl.edu 37 9 99160557 99160557 + Missense_Mutation SNP G G A novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_153695.3 -1 validated p.R154C 1.000 186 0.5% 169 35.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PRRC2B 84726 genome.wustl.edu 37 9 134340460 134340460 + Missense_Mutation SNP A A G novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_013318.3 +1 validated p.H572R 0.007 12 0% 26 50% - - benign(0) tolerated(1) - NULL FAM188A 80013 genome.wustl.edu 37 10 15828607 15828607 + Missense_Mutation SNP C C G novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_024948.2 -1 validated p.G357R 1.000 129 0% 86 34.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_EF-hand WDFY4 57705 genome.wustl.edu 37 10 49939578 49939578 + Missense_Mutation SNP G G A novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_020945.1 +1 validated p.R518Q 1.000 19 0% 33 30.3% - - probably_damaging(1) tolerated(0.25) deleterious(0.537) superfamily_ARM repeat ANXA7 310 genome.wustl.edu 37 10 75139703 75139703 + Nonsense_Mutation SNP G G A novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_004034.2 -1 reviewed p.R389* 1.000 144 0.7% 157 28% - - - - - superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_SM00335 NRAP 4892 genome.wustl.edu 37 10 115383389 115383389 + Missense_Mutation SNP A A G novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_198060.2 -1 validated p.Y786H 1.000 198 0.5% 184 34.8% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Nebulin,HMMSmart_SM00227 PNPLA2 57104 genome.wustl.edu 37 11 824410 824410 + Silent SNP G G A rs150770244 byCluster;by1000genomes TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_020376.2 +1 provisional p.R383 1.000 1 0.000 8 1.000 - - - - - NULL DCHS1 8642 genome.wustl.edu 37 11 6662745 6662746 + In_Frame_Ins INS - - CAG novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_003737.2 -1 reviewed p.33in_frame_insL 1.000:1.000 - - - - - - - - - NULL GYLTL1B 120071 genome.wustl.edu 37 11 45946345 45946345 + Missense_Mutation SNP C C T novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_152312.3 +1 validated p.A225V 0.998 41 0% 76 38.2% - - benign(0.001) tolerated(1) - HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases ENSG00000230416 0 genome.wustl.edu 37 11 56216372 56216372 + Missense_Mutation SNP C C A novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 ENST00000415874 +1 known p.P77T 1.000 106 0% 71 21.1% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZFP91 80829 genome.wustl.edu 37 11 58377419 58377419 + Missense_Mutation SNP C C T novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_053023.3 +1 reviewed p.R163C 1.000 96 0% 120 33.3% - - benign(0.021) deleterious(0.01) neutral(0.407) NULL CCND1 595 genome.wustl.edu 37 11 69466040 69466040 + Missense_Mutation SNP T T G novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_053056.2 +1 reviewed p.V293G 1.000 10 0% 13 38.5% - - probably_damaging(0.975) deleterious(0) deleterious(0.861) NULL TECTA 7007 genome.wustl.edu 37 11 121016477 121016477 + Missense_Mutation SNP G G C novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_005422.2 +1 reviewed p.E1253Q 1.000 95 0% 113 42.5% - - benign(0.001) tolerated(0.66) neutral(0.003) HMMPfam_VWD,HMMSmart_SM00216 C12orf60 144608 genome.wustl.edu 37 12 14976512 14976512 + Missense_Mutation SNP G G T novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_175874.3 +1 validated p.V215F 0.308 40 0% 39 35.9% - - probably_damaging(0.981) deleterious(0.01) deleterious(0.831) NULL SARNP 84324 genome.wustl.edu 37 12 56188666 56188666 + Splice_Site SNP T T A novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_033082.3 -1 reviewed e6-2 0.998 64 0% 91 40.7% - - - - - - CMKLR1 1240 genome.wustl.edu 37 12 108685821 108685821 + Missense_Mutation SNP C C A novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_001142343.1 -1 validated p.A307S 0.439 85 0% 115 12.2% - - benign(0.001) tolerated(0.08) neutral(0.300) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NALCN 259232 genome.wustl.edu 37 13 101712255 101712255 + Missense_Mutation SNP C C T novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_052867.2 -1 validated p.R1607Q 0.998 112 0% 126 48.4% - - benign(0.279) tolerated(0.22) neutral(0.072) NULL LOC643677 643677 genome.wustl.edu 37 13 103383899 103383899 + Missense_Mutation SNP G G A novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 XM_002344085.1 -1 model p.P6231L 0.017 138 0% 127 35.4% - - unknown(0) - - NULL IGHD3-10 28499 genome.wustl.edu 37 14 106370373 106370373 + Missense_Mutation SNP A A G novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 ENST00000390583 -1 known p.F5L 0.001 152 0.7% 231 34.6% - - unknown(0) - - NULL ATP10A 57194 genome.wustl.edu 37 15 26026347 26026347 + Missense_Mutation SNP C C T novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_024490.3 -1 reviewed p.R158Q 1.000 139 0% 151 39.1% - - benign(0.137) tolerated(0.59) neutral(0.016) HMMPfam_E1-E2_ATPase,superfamily_SSF81653 CILP 8483 genome.wustl.edu 37 15 65490022 65490022 + Missense_Mutation SNP G G A novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_003613.3 -1 reviewed p.R868W 0.006 82 0% 130 29.2% - - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL ISLR 3671 genome.wustl.edu 37 15 74467244 74467244 + Silent SNP G G A novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_005545.3 +1 validated p.L15 0.000 13 0% 20 40% - - - - - NULL MFGE8 4240 genome.wustl.edu 37 15 89450600 89450600 + Silent SNP G G C novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_005928.2 -1 validated p.V71 0.000 36 0% 52 30.8% - - - - - HMMSmart_SM00231,superfamily_Galactose-binding domain-like SRRM2 23524 genome.wustl.edu 37 16 2808547 2808547 + Missense_Mutation SNP C C T novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_016333.3 +1 validated p.R198C 1.000 142 0% 159 39.6% - - unknown(0) - - NULL DNAH3 55567 genome.wustl.edu 37 16 20994087 20994087 + Missense_Mutation SNP G G T novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_017539.1 -1 provisional p.N2605K 1.000 81 0% 84 28.6% - - benign(0.021) tolerated(0.53) neutral(0.009) superfamily_P-loop containing nucleoside triphosphate hydrolases ITGAL 3683 genome.wustl.edu 37 16 30495497 30495497 + Missense_Mutation SNP G G A novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_002209.2 +1 reviewed p.A307T 0.000 93 0% 102 43.1% - - benign(0.002) tolerated(0.26) neutral(0.034) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like,superfamily_Integrin alpha N-terminal domain IRX3 79191 genome.wustl.edu 37 16 54319128 54319128 + Missense_Mutation SNP C C T novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_024336.2 -1 validated p.G222D 0.569 64 1.6% 113 40.7% - - benign(0.153) tolerated(1) neutral(0.013) NULL CTCF 10664 genome.wustl.edu 37 16 67650722 67650722 + Missense_Mutation SNP T T C novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_006565.2 +1 reviewed p.Y343H 1.000 134 0.7% 202 34.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SPIRE2 84501 genome.wustl.edu 37 16 89911763 89911763 + Missense_Mutation SNP C C T novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_032451.1 +1 validated p.S93L 0.879 170 0% 175 38.9% - - benign(0.002) deleterious(0.02) neutral(0.383) HMMSmart_SM00750 COASY 80347 genome.wustl.edu 37 17 40717981 40717981 + Missense_Mutation SNP G G A novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_001042532.2 +1 validated p.D593N 0.000 19 0% 32 43.8% - - benign(0.001) tolerated(0.14) neutral(0.249) NULL SEPT4 5414 genome.wustl.edu 37 17 56599153 56599153 + Missense_Mutation SNP T T C novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_004574.2 -1 reviewed p.I287V 1.000 101 0% 148 29.1% - - benign(0) tolerated(1) - HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases HCN2 610 genome.wustl.edu 37 19 615947 615955 + In_Frame_Del DEL CCGCCGCCG CCGCCGCCG - novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 CCGCCGCCG CCGCCGCCG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_001194.3 +1 validated p.PPP718in_frame_del 0.991:0.983:0.975:0.967:0.966:0.968:0.999:0.999:0.546 - - - - - - - - - NULL DAPK3 1613 genome.wustl.edu 37 19 3964960 3964960 + Missense_Mutation SNP C C T novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_001348.1 -1 reviewed p.R31Q 1.000 22 0% 47 38.3% - - benign(0.024) tolerated(0.4) neutral(0.017) HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase TICAM1 148022 genome.wustl.edu 37 19 4817288 4817289 + In_Frame_Ins INS - - AGG novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_182919.2 -1 validated p.367in_frame_insP 0.000:0.000 - - - - - - - - - NULL ZNF724P 440519 genome.wustl.edu 37 19 23406636 23406636 + Missense_Mutation SNP C C A novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 ENST00000418100 -1 known p.L137F 0.000 127 0% 74 29.7% - - benign(0.029) tolerated(0.13) neutral(0.254) NULL SLC24A3 57419 genome.wustl.edu 37 20 19261705 19261705 + Missense_Mutation SNP G G A novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_020689.3 +1 validated p.R82Q 0.000 119 0.8% 145 38.6% - - benign(0.005) tolerated(0.85) neutral(0.001) NULL ZNRF3 84133 genome.wustl.edu 37 22 29444383 29444383 + Missense_Mutation SNP C C T novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_032173.2 +1 validated p.R207W 0.999 64 0% 91 79.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box ENSG00000211459 0 genome.wustl.edu 37 MT 1000 1000 + RNA SNP T T C novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 ENST00000389680 +1 known NULL NULL 36 0% 23 87% - - - - - - ENSG00000210082 0 genome.wustl.edu 37 MT 2997 2997 + RNA SNP A A G novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 ENST00000387347 +1 known NULL NULL 4 0.000 6 1.000 - - - - - - GUCY2F 2986 genome.wustl.edu 37 X 108691388 108691388 + Silent SNP A A G novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_001522.2 -1 reviewed p.R493 0.721 299 0% 277 37.2% - - - - - NULL RBMXL3 139804 genome.wustl.edu 37 X 114424064 114424064 + Silent SNP C C T novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_001145346.1 +1 validated p.D20 0.890 58 0% 64 39.1% - - - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 OR13H1 347468 genome.wustl.edu 37 X 130678908 130678908 + Silent SNP G G C novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_001004486.1 +1 provisional p.L287 0.059 136 0% 120 25% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 MAGEA11 4110 genome.wustl.edu 37 X 148794854 148794854 + Missense_Mutation SNP G G T novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_005366.4 +1 reviewed p.C12F 0.005 115 0% 138 34.8% - - possibly_damaging(0.952) - - NULL NSDHL 50814 genome.wustl.edu 37 X 152027348 152027348 + Missense_Mutation SNP T T C novel TCGA-BS-A0U5-01A-11D-A10G-09 TCGA-BS-A0U5-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 45fb474e-7c99-4678-8d96-ab60f1d02d87 a0138bfb-7eba-4650-8d06-29bb8ecc1357 NM_001129765.1 +1 reviewed p.V101A 1.000 194 0% 235 36.2% - - possibly_damaging(0.863) deleterious(0.04) deleterious(0.682) HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd