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 CAMTA1 23261 genome.wustl.edu 37 1 7730997 7730997 + Silent SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_015215.1 +1 validated p.G893 1.000 40 0% 26 15.4% 0 - - - - HMMPfam_TIG,superfamily_E set domains EPHA2 1969 genome.wustl.edu 37 1 16464530 16464530 + Missense_Mutation SNP C C A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_004431.3 -1 reviewed p.G377V 0.389 63 0% 25 56% 9 55.5% benign(0) tolerated(0.32) neutral(0.024) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like CROCC 9696 genome.wustl.edu 37 1 17250857 17250857 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_014675.3 +1 validated p.S78 0.015 27 0% 20 30% 3 33.3% - - - NULL DDOST 1650 genome.wustl.edu 37 1 20979344 20979347 + Frame_Shift_Del DEL CTTT CTTT - novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 CTTT CTTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_005216.4 -1 reviewed p.K371fs 1.000:0.980:1.000:1.000 - - - - - - - - - HMMPfam_DDOST_48kD C1QC 714 genome.wustl.edu 37 1 22973728 22973728 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001114101.1 +1 reviewed p.A64T 1.000 36 0% 36 44.4% 28 0% possibly_damaging(0.952) deleterious(0.03) deleterious(0.760) HMMPfam_Collagen ARID1A 8289 genome.wustl.edu 37 1 27100207 27100207 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_006015.4 +1 reviewed p.R1335* 0.945 217 0% 247 42.9% 12 66.6% - - - NULL ZCCHC17 51538 genome.wustl.edu 37 1 31810057 31810057 + Missense_Mutation SNP G G C novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_016505.2 +1 provisional p.V54L 1.000 585 0% 668 44.5% 40 52.5% benign(0.26) tolerated(0.11) neutral(0.299) HMMPfam_S1,superfamily_Nucleic acid-binding proteins,HMMSmart_SM00316 CDCA8 55143 genome.wustl.edu 37 1 38171158 38171158 + Silent SNP G G T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_018101.2 +1 validated p.R210 0.995 212 0% 180 46.7% 29 48.2% - - - HMMPfam_Borealin MSH4 4438 genome.wustl.edu 37 1 76365319 76365319 + Missense_Mutation SNP G G T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_002440.2 +1 validated p.E849D 0.381 75 0% 179 40.8% 0 - possibly_damaging(0.912) tolerated(0.23) neutral(0.405) HMMPfam_MutS_V,HMMSmart_MUTSac,superfamily_SSF52540 CCDC18 343099 genome.wustl.edu 37 1 93667456 93667456 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_206886.2 +1 validated p.R354* 1.000 70 0% 112 38.4% 0 - - - - NULL FNBP1L 54874 genome.wustl.edu 37 1 94009668 94009668 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c ENST00000271234 +1 known p.P391L 1.000 69 0% 85 48.2% 9 55.5% probably_damaging(0.985) tolerated(0.2) deleterious(0.481) NULL NTNG1 22854 genome.wustl.edu 37 1 107867389 107867389 + Silent SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001113226.1 +1 validated p.Y244 0.980 107 0% 179 43% 0 - - - - HMMPfam_Laminin_N,HMMSmart_SM00136 HIPK1 204851 genome.wustl.edu 37 1 114483872 114483872 + Silent SNP C C G novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_198268.1 +1 reviewed p.L289 1.000 312 0% 571 45.2% 3 33.3% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NBPF14 25832 genome.wustl.edu 37 1 148011763 148011763 + Silent SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c ENST00000310701 -1 known p.R500K 0.181 52 0% 35 20% 0 - - - - NULL TARS2 80222 genome.wustl.edu 37 1 150460464 150460464 + Missense_Mutation SNP C C A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_025150.3 +1 provisional p.P66H 0.999 135 0% 121 28.9% 20 25% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_TGS,superfamily_TGS-like SETDB1 9869 genome.wustl.edu 37 1 150923546 150923546 + Silent SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001145415.1 +1 reviewed p.C731 1.000 283 0% 309 30.7% 18 11.1% - - - HMMSmart_SM00468,HMMPfam_Pre-SET,superfamily_SET domain UBE2Q1 55585 genome.wustl.edu 37 1 154524423 154524423 + Missense_Mutation SNP C C A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_017582.6 -1 reviewed p.R333S 1.000 186 0% 245 27.8% 105 38% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like POGK 57645 genome.wustl.edu 37 1 166818940 166818940 + Missense_Mutation SNP G G T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_017542.3 +1 reviewed p.R375L 0.192 177 0% 230 27% 15 0% possibly_damaging(0.83) tolerated(0.12) deleterious(0.576) HMMPfam_DDE SCYL3 57147 genome.wustl.edu 37 1 169822886 169822888 + In_Frame_Del DEL CTT CTT - novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_181093.2 -1 validated p.E732in_frame_del 1.000:1.000:0.999 - - - - - - - - - NULL FAM5B 57795 genome.wustl.edu 37 1 177250656 177250657 + Frame_Shift_Del DEL TG TG - novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_021165.2 +1 provisional p.C782fs 1.000:1.000 - - - - - - - - - NULL CACNA1E 777 genome.wustl.edu 37 1 181690963 181690963 + Missense_Mutation SNP G G T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_000721.2 +1 reviewed p.G676C 1.000 490 0% 471 33.8% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels ZNF648 127665 genome.wustl.edu 37 1 182026425 182026425 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001009992.1 -1 provisional p.E241K 0.000 31 0% 46 32.6% 0 - benign(0.005) tolerated(0.14) neutral(0.249) NULL PRG4 10216 genome.wustl.edu 37 1 186276213 186276213 + Silent SNP C C A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_005807.3 +1 reviewed p.T454 0.000 66 0% 150 34.7% 0 - - - - NULL CNTN2 6900 genome.wustl.edu 37 1 205031627 205031627 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_005076.2 +1 reviewed p.S390 0.000 100 0% 132 24.2% 0 - - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 PM20D1 148811 genome.wustl.edu 37 1 205813294 205813294 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_152491.4 -1 validated p.V210I 0.363 125 0% 167 59.3% 0 - benign(0.001) tolerated(0.16) neutral(0.059) HMMPfam_Peptidase_M20,superfamily_Zn-dependent exopeptidases PTPN14 5784 genome.wustl.edu 37 1 214557049 214557051 + In_Frame_Del DEL CCT CCT - rs143136196 by1000genomes TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_005401.4 -1 reviewed p.E716in_frame_del 0.182:0.503:0.995 - - - - - - - - - NULL KCTD3 51133 genome.wustl.edu 37 1 215747445 215747445 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_016121.3 +1 validated p.R56Q 1.000 118 0% 242 36.4% 1 0% probably_damaging(0.963) tolerated(0.05) deleterious(0.751) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain USH2A 7399 genome.wustl.edu 37 1 215955394 215955394 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_206933.2 -1 reviewed p.T3577I 0.003 251 0% 444 30.4% 0 - benign(0.002) tolerated(0.19) neutral(0.050) superfamily_Fibronectin type III SDCCAG8 10806 genome.wustl.edu 37 1 243480154 243480154 + Missense_Mutation SNP G G T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_006642.2 +1 validated p.V343F 0.998 297 0% 714 30% 19 10.5% possibly_damaging(0.502) tolerated(0.21) neutral(0.212) NULL PUM2 23369 genome.wustl.edu 37 2 20512036 20512038 + In_Frame_Del DEL AGG AGG - novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_015317.1 -1 provisional p.P103in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL MCFD2 90411 genome.wustl.edu 37 2 47135063 47135063 + Silent SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_139279.4 -1 reviewed p.A65 0.645 240 0% 211 13.7% 23 30.4% - - - superfamily_EF-hand RAB11FIP5 26056 genome.wustl.edu 37 2 73302815 73302815 + Missense_Mutation SNP T T C novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_015470.2 -1 validated p.H599R 1.000 150 0% 89 41.6% 5 20% probably_damaging(0.98) tolerated(0.07) deleterious(0.743) NULL C2orf65 130951 genome.wustl.edu 37 2 74785965 74785965 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_138804.3 -1 predicted p.V491M 0.991 433 0% 156 39.7% 15 33.3% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL RNF103 7844 genome.wustl.edu 37 2 86831826 86831826 + Missense_Mutation SNP T T C novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_005667.2 -1 reviewed p.T400A 1.000 352 0% 519 41.4% 20 60% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL SULT1C3 442038 genome.wustl.edu 37 2 108875465 108875486 + Frame_Shift_Del DEL AAACTTGGTCAGGTGATGTTAT AAACTTGGTCAGGTGATGTTAT - rs72322214 byCluster TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 AAACTTGGTCAGGTGATGTTAT AAACTTGGTCAGGTGATGTTAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c ENST00000376700 +1 known p.W224fs 0.420:0.382:0.018:0.002:0.000:0.000:0.001:0.000:0.000:0.000:0.002:0.395:0.396:0.268:0.312:0.255:0.004:0.004:0.004:0.002:0.004:0.025 - - - - - - - - - HMMPfam_Sulfotransfer_1,superfamily_SSF52540 LIMS2 55679 genome.wustl.edu 37 2 128399619 128399619 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c ENST00000426981 -1 known p.A30T 1.000 14 0.000 6 0.667 3 100% benign(0.012) tolerated(0.44) neutral(0.013) HMMPfam_LIM,HMMSmart_SM00132 ABCB11 8647 genome.wustl.edu 37 2 169853172 169853172 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_003742.2 -1 reviewed p.V150 0.000 247 0% 338 45.9% 0 - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain PRKRA 8575 genome.wustl.edu 37 2 179312281 179312282 + Frame_Shift_Del DEL TA TA - novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_003690.4 -1 reviewed p.H89fs 1.000:1.000 - - - - - - - - - HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like TWIST2 117581 genome.wustl.edu 37 2 239757083 239757083 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_057179.1 +1 reviewed p.R76H 1.000 25 0% 18 44.4% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain CTNNB1 1499 genome.wustl.edu 37 3 41266125 41266125 + Missense_Mutation SNP C C T rs121913413 byCluster TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001098209.1 +1 reviewed p.T41I 1.000 93 0% 154 38.3% 58 46.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MINA 84864 genome.wustl.edu 37 3 97669669 97669669 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001042533.1 -1 validated p.D283 0.000 111 0% 105 37.1% 10 50% - - - HMMPfam_Cupin_4,superfamily_Clavaminate synthase-like NUP210P1 255330 genome.wustl.edu 37 3 126379503 126379503 + RNA SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c XR_040326.2 +1 model NULL 1.000 51 0% 22 54.5% 0 - - - - - COL6A6 131873 genome.wustl.edu 37 3 130284242 130284242 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001102608.1 +1 provisional p.R356* 0.948 101 0% 143 46.2% 0 - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like SLCO2A1 6578 genome.wustl.edu 37 3 133692561 133692561 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_005630.2 -1 validated p.L115F 0.997 217 0% 189 39.7% 22 31.8% probably_damaging(1) tolerated(0.21) deleterious(0.544) HMMPfam_OATP,superfamily_MFS_gen_substrate_transporter RNF13 11342 genome.wustl.edu 37 3 149613258 149613258 + Splice_Site SNP A A G novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_007282.4 +1 reviewed e4-2 1.000 81 0% 123 51.2% 0 - - - - - GPR87 53836 genome.wustl.edu 37 3 151012692 151012692 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_023915.3 -1 validated p.C114 1.000 353 0% 487 16.8% 1 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SI 6476 genome.wustl.edu 37 3 164741431 164741432 + Frame_Shift_Del DEL TT TT - novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001041.3 -1 reviewed p.K1009fs 0.000:0.000 - - - - - - - - - NULL PIK3CA 5290 genome.wustl.edu 37 3 178916725 178916725 + Missense_Mutation SNP C C A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_006218.2 +1 reviewed p.R38S 1.000 69 0% 118 45.8% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B ECE2 9718 genome.wustl.edu 37 3 184005670 184005670 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_014693.3 +1 validated p.A555T 0.997 1100 0% 237 38.4% 0 - benign(0.003) tolerated(1) - "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" EPHB3 2049 genome.wustl.edu 37 3 184290427 184290427 + Missense_Mutation SNP G G C novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_004443.3 +1 reviewed p.V107L 1.000 50 0% 27 48.1% 22 40.9% probably_damaging(0.988) deleterious(0.02) deleterious(0.821) HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,superfamily_Gal_bind_like PDE6B 5158 genome.wustl.edu 37 4 654294 654294 + Silent SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_000283.3 +1 reviewed p.Y502 0.994 101 0% 31 38.7% 0 - - - - superfamily_HD-domain/PDEase-like PTPN13 5783 genome.wustl.edu 37 4 87690982 87690982 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_080685.2 +1 reviewed p.R1522Q 1.000 52 0% 111 11.7% 0 - possibly_damaging(0.949) tolerated(0.14) deleterious(0.643) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ AGXT2L1 64850 genome.wustl.edu 37 4 109681400 109681400 + Missense_Mutation SNP T T C novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_031279.3 -1 validated p.Y40C 1.000 439 0% 289 41.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aminotran_3,superfamily_PLP-dependent transferases C4orf29 80167 genome.wustl.edu 37 4 128938542 128938542 + Silent SNP C C T rs145102002 by1000genomes TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001039717.1 +1 predicted p.S165 0.489 383 0% 496 45.8% 2 50% - - - HMMPfam_DUF2048,superfamily_alpha/beta-Hydrolases ZNF827 152485 genome.wustl.edu 37 4 146686736 146686736 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c ENST00000511659 -1 known p.A106V 1.000 133 0% 180 46.7% 3 66.6% - - - NULL POU4F2 5458 genome.wustl.edu 37 4 147561402 147561402 + Silent SNP C C A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_004575.2 +1 validated p.T224 1.000 89 0% 35 45.7% 0 - - - - NULL SDHA 6389 genome.wustl.edu 37 5 235382 235382 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_004168.2 +1 reviewed p.T396 1.000 82 0% 83 51.8% 152 40.7% - - - HMMPfam_FAD_binding_2,superfamily_FAD/NAD(P)-binding domain,superfamily_Succinate dehydrogenase/fumarate reductase flavoprotein catalytic domain SDHA 6389 genome.wustl.edu 37 5 251216 251216 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_004168.2 +1 reviewed p.R554Q 1.000 72 0% 135 13.3% 153 9.1% possibly_damaging(0.932) deleterious(0.03) deleterious(0.743) HMMPfam_Succ_DH_flav_C,superfamily_Succinate dehydrogenase/fumarate reductase flavoprotein C-terminal domain CDH18 1016 genome.wustl.edu 37 5 19483549 19483549 + Missense_Mutation SNP G G T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_004934.3 -1 reviewed p.S581R 1.000 190 0% 198 41.4% 0 - benign(0.277) deleterious(0) deleterious(0.474) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin SPEF2 79925 genome.wustl.edu 37 5 35753787 35753787 + Missense_Mutation SNP G G T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_024867.3 +1 validated p.R1131L 0.984 130 0% 237 50.2% 3 33.3% probably_damaging(0.998) tolerated(0.22) deleterious(0.516) NULL NNT 23530 genome.wustl.edu 37 5 43645559 43645559 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_012343.3 +1 reviewed p.A464V 0.996 89 0% 160 45% 5 60% benign(0) tolerated(0.47) neutral(0.011) NULL PPIP5K2 23262 genome.wustl.edu 37 5 102518985 102518985 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_015216.2 +1 provisional p.L991 1.000 100 0% 250 37.6% 0 - - - - NULL WDR36 134430 genome.wustl.edu 37 5 110461365 110461365 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_139281.2 +1 reviewed p.R860* 1.000 188 0% 424 13% 3 0% - - - HMMPfam_Utp21 HSD17B4 3295 genome.wustl.edu 37 5 118837772 118837772 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_000414.2 +1 reviewed p.P416S 1.000 345 0% 681 41.3% 17 29.4% benign(0.001) tolerated(0.09) neutral(0.296) superfamily_SSF54637 FBN2 2201 genome.wustl.edu 37 5 127673778 127673778 + Missense_Mutation SNP C C A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001999.3 -1 reviewed p.R1170M 1.000 129 0% 132 15.9% 2 0% probably_damaging(0.97) deleterious(0.01) deleterious(0.818) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin PCDHA7 56141 genome.wustl.edu 37 5 140216158 140216158 + Silent SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_018910.2 +1 reviewed p.G730 0.061 127 0% 86 39.5% 0 - - - - NULL PCDHGB2 56103 genome.wustl.edu 37 5 140741197 140741197 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_018923.2 +1 reviewed p.R499W 0.000 39 0% 20 75% 0 - probably_damaging(0.996) tolerated(0.18) deleterious(0.518) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA6 56109 genome.wustl.edu 37 5 140755560 140755560 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_018919.2 +1 reviewed p.A637V 0.061 46 0% 30 43.3% 0 - benign(0.021) deleterious(0.05) neutral(0.346) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like GPR151 134391 genome.wustl.edu 37 5 145895093 145895093 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_194251.2 -1 provisional p.A195V 1.000 141 0% 142 44.4% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_7tm_1,superfamily_SSF81321 RARS 5917 genome.wustl.edu 37 5 167937621 167937621 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_002887.3 +1 reviewed p.R461H 1.000 73 0% 168 48.8% 68 48.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA-synt_1d,superfamily_Nucleotidylyl transferase MAK 4117 genome.wustl.edu 37 6 10830784 10830784 + Missense_Mutation SNP T T C novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_005906.3 -1 reviewed p.K33R 1.000 565 0% 405 48.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase ALDH5A1 7915 genome.wustl.edu 37 6 24503568 24503568 + Silent SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_170740.1 +1 reviewed p.R172 0.906 138 0% 213 47.9% 4 25% - - - HMMPfam_Aldedh,superfamily_ALDH-like HIST1H4C 8364 genome.wustl.edu 37 6 26104307 26104307 + Silent SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_003542.3 +1 reviewed p.V44 0.998 122 0% 177 49.7% 1 0% - - - HMMSmart_SM00417,HMMSmart_SM00803,HMMPfam_Histone,superfamily_Histone-fold HIST1H4J 8363 genome.wustl.edu 37 6 27792005 27792005 + Missense_Mutation SNP A A G novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_021968.3 +1 reviewed p.I35V 1.000 202 0% 145 15.9% 24 37.5% benign(0.233) deleterious(0) neutral(0.468) HMMSmart_SM00417,HMMSmart_SM00803,HMMPfam_Histone,superfamily_Histone-fold KCNK16 83795 genome.wustl.edu 37 6 39284067 39284067 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001135106.1 -1 reviewed p.L271 0.000 23 0% 11 54.5% 0 - - - - NULL KCNK16 83795 genome.wustl.edu 37 6 39284090 39284090 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_032115.3 -1 reviewed p.L264F 1.000 34 0% 16 56.2% 0 - probably_damaging(0.962) deleterious(0) deleterious(0.850) NULL CUL9 23113 genome.wustl.edu 37 6 43152394 43152394 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_015089.2 +1 validated p.E116K 1.000 115 0% 61 16.4% 3 0% unknown(0) tolerated(0.61) - NULL GPR116 221395 genome.wustl.edu 37 6 46836765 46836765 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001098518.1 -1 validated p.C492 0.999 283 0% 537 37.2% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin TRAM2 9697 genome.wustl.edu 37 6 52369526 52369526 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_012288.3 -1 reviewed p.A301V 0.973 68 0% 50 52% 1 0% benign(0) tolerated(1) - HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 MDN1 23195 genome.wustl.edu 37 6 90442335 90442335 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_014611.1 -1 provisional p.S1628F 1.000 502 0% 476 10.5% 0 - probably_damaging(0.992) deleterious(0.02) deleterious(0.831) superfamily_P-loop containing nucleoside triphosphate hydrolases FIG4 9896 genome.wustl.edu 37 6 110112614 110112614 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_014845.5 +1 reviewed p.R739Q 1.000 28 0% 38 42.1% 36 41.6% probably_damaging(0.976) tolerated(0.19) neutral(0.467) NULL LOC728666 728666 genome.wustl.edu 37 6 126965050 126965050 + RNA SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c XR_015645.3 +1 model NULL 1.000 302 0% 252 39.3% 13 0% - - - - ENPP3 5169 genome.wustl.edu 37 6 132061441 132061441 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_005021.3 +1 reviewed p.T793I 0.555 263 0% 325 44% 141 47.5% possibly_damaging(0.589) tolerated(0.06) deleterious(0.526) HMMSmart_NUC,superfamily_SSF54060 MRPL18 29074 genome.wustl.edu 37 6 160218477 160218477 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_014161.3 +1 reviewed p.A133V 0.664 227 0% 196 49.5% 206 36.4% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_Translational machinery components HOXA6 3203 genome.wustl.edu 37 7 27185408 27185408 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_024014.2 -1 reviewed p.A191T 1.000 462 0% 262 12.2% 0 - probably_damaging(0.98) deleterious(0.03) deleterious(0.788) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 CHN2 1124 genome.wustl.edu 37 7 29539651 29539651 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_004067.2 +1 reviewed p.A303V 0.983 174 0.6% 158 48.1% 0 - benign(0.045) tolerated(0.14) neutral(0.252) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP HECW1 23072 genome.wustl.edu 37 7 43484440 43484440 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_015052.3 +1 validated p.R557W 0.903 77 0% 19 52.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ADCY1 107 genome.wustl.edu 37 7 45662260 45662260 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_021116.2 +1 reviewed p.T313M 1.000 118 0% 234 46.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase IGFBP3 3486 genome.wustl.edu 37 7 45956827 45956827 + Silent SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c ENST00000417621 -1 known p.A67T 0.991 193 0% 228 14.9% 116 1.7% - - - superfamily_Thyroglobulin type-1 domain CROT 54677 genome.wustl.edu 37 7 86991071 86991071 + Silent SNP A A G novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001143935.1 +1 reviewed p.G178 0.992 71 0% 128 46.1% 0 - - - - HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases CUX1 1523 genome.wustl.edu 37 7 101848402 101848402 + Missense_Mutation SNP T T A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_181552.2 +1 reviewed p.S1028T 0.998 308 0% 174 41.4% 3 100% benign(0.215) tolerated(0.45) neutral(0.033) NULL RELN 5649 genome.wustl.edu 37 7 103292125 103292125 + Silent SNP G G T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_005045.3 -1 reviewed p.S625 1.000 91 0% 178 11.2% 0 - - - - NULL LAMB4 22798 genome.wustl.edu 37 7 107708605 107708605 + Splice_Site SNP C C A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_007356.2 -1 validated e18-1 1.000 119 0% 226 13.3% 0 - - - - - PNPLA8 50640 genome.wustl.edu 37 7 108138020 108138020 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_015723.2 -1 provisional p.G454S 1.000 162 0% 208 40.4% 16 62.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Patatin,superfamily_FabD/lysophospholipase-like C7orf60 154743 genome.wustl.edu 37 7 112555379 112555379 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_152556.2 -1 validated p.R95H 1.000 439 0.2% 570 10.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RP1L1 94137 genome.wustl.edu 37 8 10467546 10467546 + Silent SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_178857.5 -1 validated p.A1354 0.001 489 0.2% 378 51.6% 0 - - - - NULL XKR6 286046 genome.wustl.edu 37 8 10755661 10755661 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_173683.3 -1 provisional p.R576H 1.000 214 0% 206 39.8% 0 - probably_damaging(0.997) tolerated(0.06) deleterious(0.788) NULL LONRF1 91694 genome.wustl.edu 37 8 12586681 12586681 + Splice_Site SNP A A G novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_152271.3 -1 provisional e9+2 1.000 149 0% 176 10.8% 0 - - - - - PIWIL2 55124 genome.wustl.edu 37 8 22147762 22147762 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001135721.1 +1 validated p.G362S 1.000 325 0% 348 40.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PAZ domain LOXL2 4017 genome.wustl.edu 37 8 23177436 23177436 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_002318.2 -1 reviewed p.R478C 1.000 187 0% 145 40.7% 41 14.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SRCR,HMMSmart_SR,superfamily_Srcr_receptor INTS9 55756 genome.wustl.edu 37 8 28628504 28628504 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_018250.3 -1 reviewed p.L553F 0.999 55 0% 74 10.8% 24 16.6% possibly_damaging(0.794) tolerated(0.11) deleterious(0.570) NULL WHSC1L1 54904 genome.wustl.edu 37 8 38205429 38205429 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c ENST00000419340 -1 known p.S56N 1.000 669 0.1% 903 45.7% 5 20% - - - NULL VPS13B 157680 genome.wustl.edu 37 8 100829917 100829917 + Silent SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_017890.3 +1 reviewed p.Y2774 0.999 267 0% 314 39.5% 5 0% - - - NULL SLC45A4 57210 genome.wustl.edu 37 8 142231681 142231681 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001080431.1 -1 provisional p.A91V 0.998 34 0% 25 16% 1 0% benign(0.002) tolerated(0.47) neutral(0.011) HMMPfam_MFS_1,superfamily_MFS general substrate transporter EEF1D 1936 genome.wustl.edu 37 8 144668937 144668937 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001130053.1 -1 reviewed p.E393K 1.000 83 0% 54 38.9% 511 41.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DAPK1 1612 genome.wustl.edu 37 9 90321976 90321976 + Silent SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_004938.2 +1 reviewed p.L1330 0.000 66 0% 47 55.3% 37 35.1% - - - HMMPfam_Death,HMMSmart_DEATH,superfamily_DEATH_like FBP1 2203 genome.wustl.edu 37 9 97367854 97367854 + Missense_Mutation SNP T T A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_000507.3 -1 reviewed p.N237I 0.999 173 0% 166 40.4% 7 57.1% possibly_damaging(0.773) deleterious(0.01) deleterious(0.693) HMMPfam_FBPase,superfamily_Carbohydrate phosphatase ENSG00000230984 0 genome.wustl.edu 37 9 99672393 99672393 + Silent SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c ENST00000418092 +1 known p.I12 0.641 84 0% 38 50% 0 - - - - HMMPfam_Prothymosin GABBR2 9568 genome.wustl.edu 37 9 101125089 101125089 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_005458.7 -1 reviewed p.V601M 1.000 136 0% 150 44% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_3 ABCA1 19 genome.wustl.edu 37 9 107594877 107594877 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_005502.2 -1 reviewed p.R496Q 1.000 463 0.9% 446 46.6% 1 0% benign(0) tolerated(0.7) neutral(0.002) NULL KIF12 113220 genome.wustl.edu 37 9 116859928 116859928 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_138424.1 -1 provisional p.V19I 0.625 208 0.5% 120 48.3% 56 50% benign(0.033) tolerated(0.16) neutral(0.061) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 ST6GALNAC6 30815 genome.wustl.edu 37 9 130658569 130658569 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_013443.3 -1 provisional p.R23 0.661 263 0% 207 43% 11 27.2% - - - NULL GPR107 57720 genome.wustl.edu 37 9 132853250 132853250 + Silent SNP A A G novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001136557.1 +1 validated p.T239 0.006 345 0% 442 11.3% 2 0% - - - HMMPfam_Lung_7-TM_R ABL1 25 genome.wustl.edu 37 9 133760754 133760754 + Frame_Shift_Del DEL C C - novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_007313.2 +1 reviewed p.I1046fs 1.000 - - - - - - - - - HMMPfam_F_actin_bind,HMMSmart_SM00808 PMPCA 23203 genome.wustl.edu 37 9 139306606 139306606 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_015160.1 +1 provisional p.R77C 0.985 362 0% 190 13.2% 18 5.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_LuxS/MPP-like metallohydrolase,HMMPfam_Peptidase_M16 MKX 283078 genome.wustl.edu 37 10 28023578 28023578 + Silent SNP G G T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_173576.2 -1 validated p.P215 1.000 804 0% 454 44.7% 1 100% - - - NULL GDF10 2662 genome.wustl.edu 37 10 48429245 48429245 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_004962.2 -1 reviewed p.R214H 0.730 18 0.000 9 0.778 0 - possibly_damaging(0.679) tolerated(0.12) deleterious(0.502) NULL ARHGAP22 58504 genome.wustl.edu 37 10 49667779 49667779 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_021226.2 -1 validated p.V203M 1.000 40 0% 27 48.1% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP LIPF 8513 genome.wustl.edu 37 10 90438299 90438299 + Missense_Mutation SNP T T C novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_004190.2 +1 reviewed p.L353P 0.000 377 0% 462 29.4% 0 - benign(0.028) tolerated(0.22) neutral(0.044) HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases POLL 27343 genome.wustl.edu 37 10 103340077 103340077 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_013274.3 -1 reviewed p.L431F 1.000 61 0% 26 53.8% 44 36.3% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMSmart_POLXc,PatternScan_DNA_POLYMERASE_X,superfamily_SSF81301 SORCS1 114815 genome.wustl.edu 37 10 108366924 108366924 + Missense_Mutation SNP C C A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001013031.1 -1 reviewed p.Q1055H 1.000 297 0% 265 48.3% 0 - probably_damaging(0.97) deleterious(0.01) deleterious(0.818) NULL ACSL5 51703 genome.wustl.edu 37 10 114168264 114168264 + Missense_Mutation SNP C C G novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_016234.3 +1 reviewed p.H229D 1.000 441 0% 467 41.8% 135 54.8% benign(0.103) deleterious(0) neutral(0.453) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACADSB 36 genome.wustl.edu 37 10 124800068 124800068 + Missense_Mutation SNP A A T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001609.3 +1 reviewed p.K130N 0.997 280 0% 293 12.3% 2 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Acyl-CoA_dh_N,superfamily_Acyl-CoA dehydrogenase NM domain-like MKI67 4288 genome.wustl.edu 37 10 129900903 129900903 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_002417.4 -1 reviewed p.S3067 0.000 824 0% 686 40.1% 20 40% - - - NULL KNDC1 85442 genome.wustl.edu 37 10 135027528 135027528 + Missense_Mutation SNP A A G novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_152643.6 +1 validated p.N1527D 0.738 162 0% 77 10.4% 0 - benign(0.026) tolerated(0.33) neutral(0.025) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF CDHR5 53841 genome.wustl.edu 37 11 624594 624594 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_021924.4 -1 reviewed p.G75E 0.000 48 0% 19 47.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112 TALDO1 6888 genome.wustl.edu 37 11 763825 763825 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_006755.1 +1 reviewed p.R239H 1.000 130 0% 85 48.2% 329 47.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Transaldolase,superfamily_SSF51569 MUC5B 727897 genome.wustl.edu 37 11 1262627 1262627 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_002458.1 +1 validated p.R1509Q 0.000 194 0.5% 42 47.6% 1 0% benign(0.287) - - NULL OR52K2 119774 genome.wustl.edu 37 11 4471401 4471401 + Missense_Mutation SNP C C A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001005172.2 +1 validated p.L278I 0.001 1273 0% 2293 42.9% 0 - benign(0.004) tolerated(0.24) neutral(0.037) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51E1 143503 genome.wustl.edu 37 11 4673853 4673853 + Missense_Mutation SNP C C A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_152430.3 +1 validated p.P33T 0.976 1158 0% 1295 44.2% 2 0% probably_damaging(0.988) deleterious(0) deleterious(0.882) superfamily_Family A G protein-coupled receptor-like OR52E2 119678 genome.wustl.edu 37 11 5080155 5080155 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001005164.2 -1 validated p.R235* 0.125 286 0% 320 12.8% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like DNHD1 144132 genome.wustl.edu 37 11 6540895 6540895 + Silent SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_173589.3 +1 validated p.I486 0.002 180 0% 164 11% 3 0% - - - NULL ZBED5 58486 genome.wustl.edu 37 11 10875745 10875745 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001143667.1 -1 reviewed p.R250C 0.997 278 0% 384 45.3% 49 48.9% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL MRGPRX3 117195 genome.wustl.edu 37 11 18158872 18158872 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_054031.3 +1 reviewed p.A41 0.993 252 0% 293 12.3% 0 - - - - superfamily_Family A G protein-coupled receptor-like DCDC1 341019 genome.wustl.edu 37 11 31349795 31349795 + Silent SNP T T C novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_181807.2 -1 validated p.E11 0.001 213 0% 368 12% 0 - - - - NULL LRP4 4038 genome.wustl.edu 37 11 46898348 46898348 + Missense_Mutation SNP C C A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_002334.3 -1 reviewed p.R1104M 1.000 156 0% 143 39.9% 64 59.3% benign(0.257) tolerated(0.11) neutral(0.298) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain ARFGAP2 84364 genome.wustl.edu 37 11 47193288 47193288 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_032389.3 -1 provisional p.R246W 1.000 149 0% 60 36.7% 13 23% unknown(0) deleterious(0.01) - NULL OR4C3 256144 genome.wustl.edu 37 11 48347429 48347429 + Missense_Mutation SNP A A G novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001004702.1 +1 provisional p.T313A 0.998 383 0% 680 33.5% 0 - possibly_damaging(0.865) deleterious(0.03) deleterious(0.700) superfamily_Family A G protein-coupled receptor-like PLCB3 5331 genome.wustl.edu 37 11 64022489 64022489 + Silent SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_000932.2 +1 reviewed p.A122 0.033 42 0% 19 57.9% 6 0% - - - NULL ATG2A 23130 genome.wustl.edu 37 11 64675055 64675055 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c ENST00000418259 -1 known p.R665W 0.000 12 0% 11 72.7% 1 100% - - - NULL PC 5091 genome.wustl.edu 37 11 66619964 66619964 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_000920.3 -1 reviewed p.A591T 0.704 73 0% 29 34.5% 5 20% possibly_damaging(0.641) deleterious(0) deleterious(0.669) HMMPfam_HMGL-like,superfamily_SSF51569 CTTN 2017 genome.wustl.edu 37 11 70275184 70275184 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_005231.3 +1 reviewed p.A352V 0.993 202 0% 132 42.4% 100 31% possibly_damaging(0.848) deleterious(0.04) deleterious(0.674) NULL INPPL1 3636 genome.wustl.edu 37 11 71948292 71948292 + Frame_Shift_Del DEL C C - novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001567.3 +1 reviewed p.S1003fs 1.000 - - - - - - - - - NULL LOC220077 220077 genome.wustl.edu 37 11 71961307 71961307 + RNA SNP A A G novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c XR_017002.2 -1 model NULL 0.992 26 0% 33 30.3% 0 - - - - - PGR 5241 genome.wustl.edu 37 11 100962560 100962560 + Missense_Mutation SNP T T C novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_000926.4 -1 reviewed p.K613E 1.000 559 0% 914 42.8% 6 100% possibly_damaging(0.936) deleterious(0) deleterious(0.826) HMMPfam_zf-C4,HMMSmart_SM00399,superfamily_Glucocorticoid receptor-like (DNA-binding domain) NPAT 4863 genome.wustl.edu 37 11 108040737 108040737 + Missense_Mutation SNP G G T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_002519.2 -1 validated p.P940H 1.000 313 0% 443 42.4% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL EXPH5 23086 genome.wustl.edu 37 11 108380885 108380885 + Silent SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_015065.2 -1 validated p.L1783 0.001 94 0% 122 48.4% 5 40% - - - NULL TMPRSS5 80975 genome.wustl.edu 37 11 113563820 113563820 + Missense_Mutation SNP T T C novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_030770.2 -1 reviewed p.R313G 0.998 67 0% 76 42.1% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases ZBTB16 7704 genome.wustl.edu 37 11 113934758 113934758 + Missense_Mutation SNP A A G novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001018011.1 +1 reviewed p.M246V 1.000 34 0.000 9 0.444 0 - probably_damaging(0.973) deleterious(0.03) deleterious(0.779) NULL CEP164 22897 genome.wustl.edu 37 11 117282596 117282596 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_014956.4 +1 validated p.R1417W 0.865 83 0% 77 45.5% 18 27.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CBL 867 genome.wustl.edu 37 11 119149368 119149368 + Missense_Mutation SNP A A T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_005188.2 +1 reviewed p.D459V 1.000 236 0% 284 37% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL ROBO4 54538 genome.wustl.edu 37 11 124766420 124766420 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_019055.5 -1 validated p.G183R 0.215 77 0% 64 50% 3 0% probably_damaging(1) tolerated(0.17) deleterious(0.559) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin PRDM10 56980 genome.wustl.edu 37 11 129780429 129780431 + In_Frame_Del DEL CTG CTG - novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_020228.2 -1 reviewed p.Q1039in_frame_del 0.107:0.998:1.000 - - - - - - - - - NULL KDM5A 5927 genome.wustl.edu 37 12 402268 402268 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001042603.1 -1 reviewed p.R1508Q 1.000 425 0% 514 10.7% 3 0% probably_damaging(0.994) tolerated(0.1) deleterious(0.738) NULL KCNA6 3742 genome.wustl.edu 37 12 4919242 4919242 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_002235.3 +1 reviewed p.P12L 0.805 11 0.000 9 0.556 0 - benign(0) deleterious(0) neutral(0.445) NULL KCNA1 3736 genome.wustl.edu 37 12 5021955 5021955 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_000217.2 +1 reviewed p.V471I 1.000 159 0% 101 43.6% 0 - benign(0) tolerated(0.18) neutral(0.056) NULL A2M 2 genome.wustl.edu 37 12 9264798 9264798 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_000014.4 -1 reviewed p.R147H 1.000 204 0% 241 36.9% 9 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_A2M_N SLC11A2 4891 genome.wustl.edu 37 12 51384628 51384628 + Missense_Mutation SNP C C A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_000617.2 -1 reviewed p.V509L 1.000 308 0% 303 41.6% 64 53.1% benign(0.011) tolerated(0.45) neutral(0.013) NULL NCKAP1L 3071 genome.wustl.edu 37 12 54930808 54930808 + Missense_Mutation SNP A A G novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_005337.4 +1 reviewed p.I1052V 1.000 478 0.2% 545 46.8% 6 0% benign(0.137) tolerated(0.14) neutral(0.261) HMMPfam_Nckap1 GLS2 27165 genome.wustl.edu 37 12 56873664 56873664 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_013267.2 -1 reviewed p.Q102* 1.000 189 0% 126 46.8% 1 0% - - - NULL ACSS3 79611 genome.wustl.edu 37 12 81545698 81545698 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_024560.2 +1 validated p.G333R 1.000 385 0% 932 42.2% 8 62.5% possibly_damaging(0.8) deleterious(0) deleterious(0.746) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ANKRD13A 88455 genome.wustl.edu 37 12 110456207 110456207 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_033121.1 +1 validated p.A153V 1.000 433 0.2% 374 44.7% 2 50% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL GCN1L1 10985 genome.wustl.edu 37 12 120613991 120613991 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_006836.1 -1 validated p.L290F 1.000 214 0% 181 47% 4 50% benign(0.418) tolerated(0.13) neutral(0.388) superfamily_ARM repeat HCAR2 338442 genome.wustl.edu 37 12 123187074 123187074 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_177551.3 -1 validated p.R253C 0.024 274 0% 231 38.5% 0 - possibly_damaging(0.912) tolerated(0.17) neutral(0.422) HMMPfam_7tm_1,superfamily_SSF81321 CCDC62 84660 genome.wustl.edu 37 12 123285675 123285675 + Missense_Mutation SNP G G T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_201435.3 +1 validated p.D328Y 1.000 144 0% 163 39.9% 0 - probably_damaging(0.974) deleterious(0) deleterious(0.861) NULL AACS 65985 genome.wustl.edu 37 12 125570874 125570874 + Splice_Site SNP A A G novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_023928.3 +1 validated e4-2 1.000 568 0% 699 37.6% 0 - - - - - RIMBP2 23504 genome.wustl.edu 37 12 130926531 130926531 + Missense_Mutation SNP A A G novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_015347.4 -1 validated p.Y439H 1.000 56 0% 35 68.6% 0 - probably_damaging(0.996) tolerated(0.5) deleterious(0.472) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III OR10G3 26533 genome.wustl.edu 37 14 22038134 22038134 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001005465.1 -1 validated p.V248M 0.773 225 0% 113 15.9% 0 - benign(0.043) tolerated(0.05) neutral(0.348) HMMPfam_7tm_1,superfamily_SSF81321 MYH6 4624 genome.wustl.edu 37 14 23854149 23854151 + In_Frame_Del DEL CTC CTC - novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_002471.3 -1 validated p.E1755in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_Myosin_tail_1 JPH4 84502 genome.wustl.edu 37 14 24040430 24040430 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_032452.2 -1 reviewed p.A504T 0.051 139 0% 62 19.4% 0 - benign(0.164) tolerated(0.43) neutral(0.028) NULL DACT1 51339 genome.wustl.edu 37 14 59113247 59113247 + Missense_Mutation SNP G G T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_016651.5 +1 validated p.G636C 0.000 6 0.000 19 0.526 1 100% possibly_damaging(0.781) tolerated(0.06) deleterious(0.615) NULL MAX 4149 genome.wustl.edu 37 14 65560514 65560514 + Missense_Mutation SNP T T C novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_002382.3 -1 reviewed p.H28R 1.000 422 0% 530 40.8% 32 46.8% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_HLH,superfamily_HLH helix-loop-helix DNA-binding domain PAPLN 89932 genome.wustl.edu 37 14 73739249 73739249 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c ENST00000381166 +1 known p.A1104T 1.000 322 0% 131 40.5% 3 66.6% unknown(0) - - NULL VRTN 55237 genome.wustl.edu 37 14 74824114 74824114 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_018228.2 +1 validated p.R210C 0.837 113 1.8% 118 43.2% 0 - benign(0.007) tolerated(0.21) neutral(0.044) NULL ANGEL1 23357 genome.wustl.edu 37 14 77269819 77269819 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_015305.3 -1 validated p.R505C 0.998 362 0% 92 18.5% 11 0% possibly_damaging(0.914) tolerated(0.05) deleterious(0.712) HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos AHSA1 10598 genome.wustl.edu 37 14 77935521 77935521 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_012111.2 +1 validated p.R316* 0.076 276 0% 170 39.4% 590 38.3% - - - HMMPfam_AHSA1,superfamily_Bet v1-like CYP46A1 10858 genome.wustl.edu 37 14 100191774 100191774 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_006668.1 +1 reviewed p.P408L 0.956 148 0% 99 10.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome_P450 TDRD9 122402 genome.wustl.edu 37 14 104506669 104506669 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_153046.2 +1 validated p.E1285K 0.933 178 0% 345 42.3% 0 - benign(0.015) tolerated(0.88) neutral(0.001) NULL PACS2 23241 genome.wustl.edu 37 14 105849172 105849172 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001100913.1 +1 validated p.T516M 1.000 30 0% 19 42.1% 55 29% probably_damaging(0.988) tolerated(0.12) deleterious(0.698) HMMPfam_Pacs-1 IGHV1-45 28466 genome.wustl.edu 37 14 106962945 106962945 + Missense_Mutation SNP A A G novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c ENST00000390621 -1 known p.Y113H 1.000 251 0% 329 44.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 TRPM1 4308 genome.wustl.edu 37 15 31329970 31329970 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_002420.4 -1 reviewed p.G817* 1.000 454 0% 617 42.9% 0 - - - - NULL SPG11 80208 genome.wustl.edu 37 15 44903051 44903051 + Missense_Mutation SNP C C A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_025137.3 -1 reviewed p.G1093V 1.000 197 0% 225 43.1% 5 80% probably_damaging(0.971) tolerated(0.36) neutral(0.433) NULL SLTM 79811 genome.wustl.edu 37 15 59186698 59186699 + Frame_Shift_Del DEL CT CT - novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_024755.2 -1 validated p.E437fs 0.822:1.000 - - - - - - - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 ANKDD1A 348094 genome.wustl.edu 37 15 65208032 65208032 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_182703.3 +1 validated p.R24H 0.047 126 0% 71 52.1% 0 - probably_damaging(0.973) tolerated(0.13) deleterious(0.667) HMMPfam_Ank,superfamily_ANK DPP8 54878 genome.wustl.edu 37 15 65756154 65756154 + Missense_Mutation SNP T T A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_197960.2 -1 reviewed p.D655V 1.000 207 0% 175 12.6% 2 0% benign(0.382) deleterious(0.02) deleterious(0.505) superfamily_alpha/beta-Hydrolases IQCH 64799 genome.wustl.edu 37 15 67692530 67692530 + Silent SNP C C A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001031715.2 +1 validated p.R662 0.999 328 0% 320 42.2% 0 - - - - NULL CSK 1445 genome.wustl.edu 37 15 75094108 75094108 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001127190.1 +1 validated p.V320 1.000 74 0% 48 52.1% 117 42.7% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like) AP3B2 8120 genome.wustl.edu 37 15 83332568 83332568 + Silent SNP G G T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_004644.3 -1 validated p.S788 0.129 190 0% 150 48.7% 0 - - - - NULL LRRK1 79705 genome.wustl.edu 37 15 101606847 101606847 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_024652.3 +1 validated p.R1924H 0.475 130 0% 155 47.7% 5 20% benign(0.057) tolerated(0.26) neutral(0.038) NULL NTHL1 4913 genome.wustl.edu 37 16 2096345 2096345 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_002528.5 -1 reviewed p.P54 0.000 40 0% 17 23.5% 39 53.8% - - - NULL PPL 5493 genome.wustl.edu 37 16 4934330 4934330 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_002705.4 -1 reviewed p.T1442 0.959 39 0% 19 42.1% 9 11.1% - - - NULL USP31 57478 genome.wustl.edu 37 16 23085182 23085183 + Frame_Shift_Del DEL CA CA - novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_020718.3 -1 validated p.V732fs 1.000:1.000 - - - - - - - - - HMMPfam_UCH,superfamily_Cysteine proteinases HIRIP3 8479 genome.wustl.edu 37 16 30006663 30006663 + Splice_Site SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_003609.2 -1 reviewed e2+1 1.000 55 0% 29 41.4% 0 - - - - - HIRIP3 8479 genome.wustl.edu 37 16 30006712 30006714 + In_Frame_Del DEL CTC CTC - novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_003609.2 -1 reviewed p.E46in_frame_del 1.000:1.000:0.998 - - - - - - - - - NULL BRD7 29117 genome.wustl.edu 37 16 50368677 50368678 + Frame_Shift_Ins INS - - CT novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_013263.3 -1 validated p.D277fs 0.342:0.079 - - - - - - - - - NULL CTCF 10664 genome.wustl.edu 37 16 67655479 67655479 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_006565.2 +1 reviewed p.R448* 1.000 578 0.3% 618 42.1% 16 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NUTF2 10204 genome.wustl.edu 37 16 67902442 67902442 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_005796.1 +1 reviewed p.A70 0.225 343 0.3% 228 44.3% 639 46.3% - - - HMMPfam_NTF2,superfamily_NTF2-like ENSG00000205152 0 genome.wustl.edu 37 16 70268080 70268080 + Missense_Mutation SNP T T C novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c ENST00000378955 -1 known p.N137D 1.000 68 1.5% 98 26.5% 0 - - - - NULL HYDIN 54768 genome.wustl.edu 37 16 70841553 70841553 + Missense_Mutation SNP C C A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_032821.2 -1 validated p.S5098I 0.113 525 0% 665 42.4% 12 0% benign(0.045) deleterious(0.04) neutral(0.351) NULL PKD1L3 342372 genome.wustl.edu 37 16 71967402 71967402 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c ENST00000335106 -1 known p.S1614N 0.998 72 0% 115 34.8% 0 - - - - HMMPfam_Ion_trans YWHAE 7531 genome.wustl.edu 37 17 1265220 1265220 + Missense_Mutation SNP T T A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_006761.4 -1 reviewed p.E116V 1.000 198 0% 265 49.1% 232 52.5% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_14-3-3,HMMSmart_SM00101,superfamily_14-3-3 protein ZBTB4 57659 genome.wustl.edu 37 17 7369289 7369289 + Missense_Mutation SNP G G T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001128833.1 -1 validated p.P278T 1.000 19 0% 18 27.8% 1 0% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) superfamily_C2H2 and C2HC zinc fingers MYH10 4628 genome.wustl.edu 37 17 8383618 8383618 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_005964.1 -1 validated p.E1772K 1.000 129 0.8% 100 44% 41 39% possibly_damaging(0.764) deleterious(0.01) deleterious(0.689) HMMPfam_Myosin_tail_1,superfamily_Prefoldin DNAH9 1770 genome.wustl.edu 37 17 11607704 11607704 + Missense_Mutation SNP T T C novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001372.3 +1 reviewed p.I1779T 1.000 274 0.4% 285 18.9% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ZNF286B 729288 genome.wustl.edu 37 17 18566166 18566166 + Missense_Mutation SNP A A T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001145045.1 -1 validated p.F218Y 0.475 317 0% 244 44.7% 0 - - - - superfamily_C2H2 and C2HC zinc fingers BLMH 642 genome.wustl.edu 37 17 28576086 28576086 + Missense_Mutation SNP C C A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_000386.2 -1 reviewed p.Q439H 1.000 393 0% 414 45.7% 79 41.7% possibly_damaging(0.775) deleterious(0.02) deleterious(0.671) HMMPfam_Peptidase_C1_2,superfamily_Cysteine proteinases LOC100287863 100287863 genome.wustl.edu 37 17 37331737 37331737 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c XM_002343513.1 +1 model p.R17Q 0.329 78 0% 31 48.4% 0 - - - - NULL KRT36 8689 genome.wustl.edu 37 17 39646047 39646047 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_003771.4 -1 reviewed p.G24S 0.002 21 0% 20 55% 0 - benign(0.002) tolerated(0.37) neutral(0.019) NULL PRKCA 5578 genome.wustl.edu 37 17 64685104 64685104 + Missense_Mutation SNP A A G novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_002737.2 +1 reviewed p.Y286C 1.000 263 0% 288 42.4% 6 50% probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) FAM20A 54757 genome.wustl.edu 37 17 66538916 66538916 + Missense_Mutation SNP C C A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_017565.3 -1 validated p.G283W 1.000 487 0% 528 41.3% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DNAH17 8632 genome.wustl.edu 37 17 76525662 76525662 + Missense_Mutation SNP C C A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c ENST00000389840 -1 known p.K1133N 1.000 369 0% 236 44.5% 0 - benign(0.126) tolerated(0.28) neutral(0.042) superfamily_Spectrin repeat ENSG00000215726 0 genome.wustl.edu 37 18 697216 697216 + RNA SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c ENST00000508278 +1 novel NULL 0.000 181 0% 115 33.9% 0 - - - - - MYOM1 8736 genome.wustl.edu 37 18 3155005 3155005 + Missense_Mutation SNP A A G novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_003803.3 -1 reviewed p.I528T 1.000 159 0% 390 42.3% 0 - benign(0.146) deleterious(0.01) neutral(0.418) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III NOL4 8715 genome.wustl.edu 37 18 31463273 31463273 + Missense_Mutation SNP T T C novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_003787.3 -1 validated p.Y553C 1.000 580 0.2% 392 43.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ALPK2 115701 genome.wustl.edu 37 18 56203687 56203687 + Silent SNP G G T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_052947.3 -1 validated p.S1244 0.000 38 0% 52 13.5% 0 - - - - NULL ALPK2 115701 genome.wustl.edu 37 18 56246440 56246440 + Frame_Shift_Del DEL T T - novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_052947.3 -1 validated p.K523fs 0.000 - - - - - - - - - NULL MC4R 4160 genome.wustl.edu 37 18 58038877 58038877 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_005912.2 -1 reviewed p.R236C 1.000 146 0% 117 49.6% 0 - benign(0.015) deleterious(0.02) neutral(0.384) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CDH19 28513 genome.wustl.edu 37 18 64239366 64239366 + Missense_Mutation SNP A A T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_021153.2 -1 reviewed p.S26T 0.000 195 0% 317 47.9% 0 - benign(0.383) tolerated(0.5) neutral(0.133) NULL CCDC102B 79839 genome.wustl.edu 37 18 66504202 66504202 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001093729.1 +1 validated p.D68N 1.000 89 0% 151 45% 0 - benign(0.026) tolerated(0.12) neutral(0.262) NULL MUM1 84939 genome.wustl.edu 37 19 1371014 1371014 + Silent SNP C C G novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_032853.3 +1 validated p.A642 0.000 55 0% 29 48.3% 66 33.3% - - - NULL IZUMO4 113177 genome.wustl.edu 37 19 2099263 2099263 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001039846.1 +1 validated p.S206 0.001 20 0% 23 56.5% 17 58.8% - - - NULL ZNF555 148254 genome.wustl.edu 37 19 2853709 2853709 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_152791.4 +1 validated p.S549L 0.008 335 0% 160 45% 10 40% probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DENND1C 79958 genome.wustl.edu 37 19 6479010 6479010 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_024898.2 -1 validated p.G78 0.875 110 0% 68 38.2% 1 0% - - - HMMPfam_uDENN,HMMSmart_uDENN ILF3 3609 genome.wustl.edu 37 19 10793886 10793886 + Missense_Mutation SNP A A G novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_017620.2 +1 reviewed p.Y545C 0.999 40 0% 31 41.9% 176 47.7% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like CC2D1A 54862 genome.wustl.edu 37 19 14034176 14034176 + Missense_Mutation SNP T T A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_017721.4 +1 reviewed p.F558I 1.000 164 0% 44 50% 33 39.3% benign(0.132) deleterious(0) neutral(0.456) NULL ZNF333 84449 genome.wustl.edu 37 19 14829708 14829708 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_032433.2 +1 validated p.V523 0.008 483 0% 357 17.6% 18 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 OR10H5 284433 genome.wustl.edu 37 19 15904883 15904883 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001004466.1 +1 provisional p.V9M 0.003 1672 0% 1300 14.4% 0 - benign(0.002) tolerated(0.1) neutral(0.286) superfamily_SSF81321 SUGP1 57794 genome.wustl.edu 37 19 19387471 19387471 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_172231.2 -1 validated p.R642W 0.689 95 0% 79 38% 183 44.2% unknown(0) deleterious(0) - NULL GATAD2A 54815 genome.wustl.edu 37 19 19605152 19605152 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_017660.3 +1 provisional p.R195Q 1.000 121 0% 93 46.2% 20 35% probably_damaging(0.997) tolerated(0.1) deleterious(0.752) NULL MLL4 9757 genome.wustl.edu 37 19 36228645 36228645 + Splice_Site SNP G G T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_014727.1 +1 reviewed e34+1 1.000 171 0% 87 54% 0 - - - - - ZFP82 284406 genome.wustl.edu 37 19 36884781 36884781 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_133466.2 -1 provisional p.R154H 0.001 408 0% 448 42.9% 0 - benign(0.005) tolerated(0.64) neutral(0.003) superfamily_C2H2 and C2HC zinc fingers DHDH 27294 genome.wustl.edu 37 19 49437065 49437065 + Silent SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_014475.3 +1 reviewed p.H29 1.000 23 0% 12 50% 2 50% - - - HMMPfam_GFO_IDH_MocA,superfamily_NAD(P)-bd ZNF468 90333 genome.wustl.edu 37 19 53352445 53352445 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001008801.1 -1 validated p.V13M 0.997 715 0% 738 9.8% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF347 84671 genome.wustl.edu 37 19 53643668 53643668 + Missense_Mutation SNP G G C novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_032584.2 -1 validated p.L805V 0.002 401 0% 430 44.4% 1 100% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_C2H2 and C2HC zinc fingers CACNG7 59284 genome.wustl.edu 37 19 54445326 54445326 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_031896.3 +1 reviewed p.R203C 1.000 150 0% 76 48.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NLRP9 338321 genome.wustl.edu 37 19 56244361 56244361 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_176820.2 -1 reviewed p.A279V 0.000 333 0% 302 45.7% 0 - benign(0.344) tolerated(0.07) neutral(0.427) HMMPfam_NACHT ZNF549 256051 genome.wustl.edu 37 19 58049460 58049460 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_153263.1 +1 provisional p.C350Y 0.844 230 0% 254 41.7% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF8 7554 genome.wustl.edu 37 19 58805558 58805558 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_021089.2 +1 validated p.P128 0.000 147 0% 122 13.9% 6 33.3% - - - NULL EBF4 57593 genome.wustl.edu 37 20 2736410 2736410 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c ENST00000449079 +1 known p.A621V 1.000 12 0% 14 28.6% 5 0% unknown(0) tolerated(0.1) - NULL ProSAPiP1 9762 genome.wustl.edu 37 20 3145345 3145345 + Frame_Shift_Del DEL G G - novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_014731.2 -1 validated p.R593fs 1.000 - - - - - - - - - HMMPfam_Fez1 THBD 7056 genome.wustl.edu 37 20 23028480 23028480 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_000361.2 -1 reviewed p.C554 0.088 31 0% 26 30.8% 4 0% - - - NULL MYH7B 57644 genome.wustl.edu 37 20 33584223 33584223 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_020884.3 +1 reviewed p.L1048 0.968 55 0% 15 66.7% 12 41.6% - - - superfamily_tRNA-binding arm SOGA1 140710 genome.wustl.edu 37 20 35434276 35434276 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_199181.2 -1 validated p.D729N 1.000 895 0% 322 45.3% 3 33.3% benign(0.105) tolerated(0.24) neutral(0.045) NULL SERINC3 10955 genome.wustl.edu 37 20 43142579 43142579 + Missense_Mutation SNP G G T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_006811.2 -1 validated p.L48M 1.000 421 0% 419 38.7% 11 36.3% probably_damaging(0.986) deleterious(0.01) deleterious(0.840) HMMPfam_Serinc PREX1 57580 genome.wustl.edu 37 20 47351101 47351101 + Silent SNP G G T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_020820.3 -1 reviewed p.T167 0.170 195 0.5% 124 38.7% 1 0% - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) TIAM1 7074 genome.wustl.edu 37 21 32595761 32595761 + Silent SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_003253.2 -1 validated p.G652 0.999 111 0% 158 47.5% 0 - - - - NULL DOPEY2 9980 genome.wustl.edu 37 21 37620744 37620744 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_005128.2 +1 validated p.R1626* 0.838 137 0% 103 50.5% 2 0% - - - NULL PIWIL3 440822 genome.wustl.edu 37 22 25119106 25119106 + Missense_Mutation SNP C C A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001008496.2 -1 validated p.R792M 0.932 432 0% 413 38.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Piwi,superfamily_RNaseH_fold CHEK2 11200 genome.wustl.edu 37 22 29130714 29130714 + Missense_Mutation SNP A A G novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c ENST00000398017 -1 known p.V9A 0.000 242 0% 244 36.9% 10 50% unknown(0) - - NULL APOL4 80832 genome.wustl.edu 37 22 36587217 36587217 + Missense_Mutation SNP G G T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c ENST00000352371 -1 known p.S320Y 0.001 93 0% 116 39.7% 12 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_ApoL APOL4 80832 genome.wustl.edu 37 22 36587860 36587860 + Missense_Mutation SNP T T C novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c ENST00000352371 -1 known p.E106G 0.001 305 0% 348 40.8% 5 100% probably_damaging(0.959) deleterious(0.02) deleterious(0.786) HMMPfam_ApoL TRIOBP 11078 genome.wustl.edu 37 22 38130445 38130445 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001039141.2 +1 reviewed p.R1368W 0.001 19 0.000 9 0.667 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TNRC6B 23112 genome.wustl.edu 37 22 40677282 40677282 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c ENST00000454349 +1 known p.A1205T 1.000 373 0% 384 44% 0 - benign(0.29) tolerated(0.34) neutral(0.112) NULL MAPK8IP2 23542 genome.wustl.edu 37 22 51041769 51041771 + In_Frame_Del DEL GAG GAG - novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c ENST00000329492 +1 known p.E100in_frame_del 0.996:0.991:0.021 - - - - - - - - - NULL ARSE 415 genome.wustl.edu 37 X 2864057 2864057 + Nonsense_Mutation SNP C C A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_000047.2 -1 reviewed p.E325* 1.000 544 0% 308 41.6% 5 0% - - - HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core RPS6KA3 6197 genome.wustl.edu 37 X 20179840 20179840 + Missense_Mutation SNP C C A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_004586.2 -1 reviewed p.E627D 1.000 189 0% 249 40.6% 5 0% benign(0) tolerated(0.53) neutral(0.007) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ZNF630 57232 genome.wustl.edu 37 X 47918479 47918479 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001037735.2 -1 validated p.R451K 1.000 329 0% 338 40.2% 7 0% possibly_damaging(0.936) tolerated(0.31) neutral(0.409) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 MAGED1 9500 genome.wustl.edu 37 X 51641401 51641401 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001005333.1 +1 reviewed p.R643C 1.000 847 0% 648 14.2% 155 9% unknown(0) deleterious(0.01) - HMMPfam_MAGE IL2RG 3561 genome.wustl.edu 37 X 70327660 70327660 + Missense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_000206.2 -1 reviewed p.P346S 0.981 325 0% 266 45.1% 18 0% benign(0.023) deleterious(0.03) neutral(0.365) NULL ZCCHC5 203430 genome.wustl.edu 37 X 77913051 77913051 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_152694.2 -1 reviewed p.W289* 0.000 139 0% 172 12.2% 0 - - - - NULL TBC1D8B 54885 genome.wustl.edu 37 X 106083361 106083361 + Missense_Mutation SNP G G T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_017752.2 +1 validated p.K479N 1.000 446 0% 493 43.2% 2 0% benign(0.01) deleterious(0.01) neutral(0.406) superfamily_Ypt/Rab-GAP domain of gyp1p IRS4 8471 genome.wustl.edu 37 X 107977929 107977929 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_003604.2 -1 reviewed p.G549D 0.493 258 0% 154 15.6% 0 - unknown(0) deleterious(0) - NULL ODZ1 10178 genome.wustl.edu 37 X 123779079 123779079 + Missense_Mutation SNP A A G novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_014253.3 -1 reviewed p.I597T 1.000 245 0% 338 40.2% 0 - possibly_damaging(0.815) tolerated(0.16) neutral(0.367) HMMSmart_EGF,HMMPfam_EGF_2 DCAF12L2 340578 genome.wustl.edu 37 X 125299580 125299580 + Nonsense_Mutation SNP G G A novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001013628.2 -1 reviewed p.Q110* 1.000 60 0% 54 13% 0 - - - - superfamily_WD40_like CCDC160 347475 genome.wustl.edu 37 X 133378949 133378949 + Missense_Mutation SNP G G T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_001101357.1 +1 provisional p.S40I 0.000 86 0% 87 10.3% 2 0% benign(0.303) tolerated(0.06) neutral(0.416) NULL FAM122C 159091 genome.wustl.edu 37 X 133988256 133988256 + Missense_Mutation SNP C C T novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c ENST00000370784 +1 known p.T193I 0.226 399 0% 351 43.3% 4 0% unknown(0) - - NULL GPR112 139378 genome.wustl.edu 37 X 135455083 135455083 + Missense_Mutation SNP A A G novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_153834.3 +1 reviewed p.T2546A 0.026 571 0% 942 43% 0 - benign(0.001) tolerated(1) - NULL CD99L2 83692 genome.wustl.edu 37 X 149944656 149944656 + Missense_Mutation SNP T T C novel TCGA-A5-A0GI-01A-11W-A062-09 TCGA-A5-A0GI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 322fb74a-d3c3-4b28-bc78-f32d4e2f3751 0ca254d3-b2c3-4eb6-b4ac-cdfd88b2cf6c NM_031462.3 -1 reviewed p.S216G 1.000 111 0% 79 16.5% 2 0% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL