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 NOC2L 26155 genome.wustl.edu 37 1 881643 881643 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_015658.3 -1 validated p.R609 0.022 104 0% 88 34.1% 126 50.7% - - - HMMPfam_Noc2 NOC2L 26155 genome.wustl.edu 37 1 887838 887838 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_015658.3 -1 validated p.R382H 1.000 90 0% 50 34% 117 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Noc2 AGRN 375790 genome.wustl.edu 37 1 981121 981121 + Missense_Mutation SNP T T G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_198576.2 +1 validated p.C849G 1.000 69 0% 38 39.5% 66 43.9% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196 TPRG1L 127262 genome.wustl.edu 37 1 3545047 3545047 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_182752.3 +1 validated p.A233 0.020 211 0% 180 31.7% 25 40% - - - NULL RPL22 6146 ucsc.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T - - novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_000983.3 -1 reviewed p.K15fs 1 - - - - - - - - - HMMPfam_Ribosomal_L22e PHF13 148479 genome.wustl.edu 37 1 6680059 6680059 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_153812.2 +1 validated p.T113M 0.943 59 0% 41 29.3% 34 35.2% possibly_damaging(0.864) tolerated(0.11) deleterious(0.606) NULL CLSTN1 22883 genome.wustl.edu 37 1 9795068 9795068 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001009566.1 -1 validated p.R683H 0.983 131 0% 74 37.8% 355 49% possibly_damaging(0.732) tolerated(0.23) neutral(0.309) NULL C1orf187 374946 genome.wustl.edu 37 1 11775193 11775193 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_198545.3 +1 validated p.R289W 0.981 89 0% 63 41.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SPEN 23013 genome.wustl.edu 37 1 16256081 16256081 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_015001.2 +1 reviewed p.L1116 0.846 104 0% 101 35.6% 6 50% - - - NULL ECE1 1889 genome.wustl.edu 37 1 21582519 21582519 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001397.2 -1 reviewed p.L314P 1.000 117 0.9% 79 31.6% 43 39.5% probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" CEP85 64793 genome.wustl.edu 37 1 26584671 26584671 + Nonsense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_022778.2 +1 provisional p.R359* 0.627 108 0% 89 36% 3 0% - - - NULL ARID1A 8289 genome.wustl.edu 37 1 27107013 27107013 + Frame_Shift_Del DEL C C - novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_006015.4 +1 reviewed p.Q2209fs 1.000 - - - - - - - - - NULL GJB3 2707 genome.wustl.edu 37 1 35250673 35250673 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001005752.1 +1 reviewed p.R104W 0.000 224 0% 163 39.9% 41 48.7% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Connexin PSMB2 5690 genome.wustl.edu 37 1 36074873 36074873 + Missense_Mutation SNP C C G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_002794.3 -1 reviewed p.S141T 1.000 104 0% 93 50.5% 538 43.4% benign(0.216) tolerated(0.05) neutral(0.366) HMMPfam_Proteasome,superfamily_SSF56235 GNL2 29889 genome.wustl.edu 37 1 38034731 38034731 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_013285.2 -1 validated p.R530Q 0.999 420 0% 349 35.2% 90 48.8% possibly_damaging(0.706) tolerated(0.09) deleterious(0.550) NULL MACF1 23499 genome.wustl.edu 37 1 39750879 39750879 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_012090.3 +1 reviewed p.E424G 1.000 494 0% 399 39.6% 1 0% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) superfamily_Spectrin repeat MACF1 23499 genome.wustl.edu 37 1 39835816 39835817 + Frame_Shift_Del DEL TA TA - novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_033044.2 +1 reviewed p.M2792fs 0.999:0.997 - - - - - - - - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin PTPRF 5792 genome.wustl.edu 37 1 44083455 44083455 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_002840.3 +1 reviewed p.R1415H 1.000 74 0% 49 40.8% 290 47.5% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II KDM4A 9682 genome.wustl.edu 37 1 44133482 44133482 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_014663.2 +1 reviewed p.V319M 1.000 171 0% 146 37% 44 43.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL BTBD19 149478 genome.wustl.edu 37 1 45275994 45275994 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001136537.1 +1 provisional p.P66T 0.000 124 0% 98 31.6% 1 0% benign(0.001) tolerated(0.29) neutral(0.029) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB MIER1 57708 genome.wustl.edu 37 1 67390729 67390729 + Silent SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000401041 +1 known p.S6 1.000 22 0% 15 33.3% 0 - - - - NULL SLC35D1 23169 genome.wustl.edu 37 1 67486115 67486115 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_015139.2 -1 reviewed p.Y271 0.302 361 0.3% 334 30.5% 5 20% - - - HMMPfam_TPT NEXN 91624 genome.wustl.edu 37 1 78408166 78408166 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000342754 +1 known p.R460K 0.088 164 0% 148 39.9% 11 63.6% - - - NULL GBP1 2633 genome.wustl.edu 37 1 89519075 89519075 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_002053.2 -1 validated p.T581M 0.000 790 0% 667 31.2% 14 21.4% benign(0.001) tolerated(0.08) neutral(0.300) superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain SORT1 6272 genome.wustl.edu 37 1 109910071 109910071 + Silent SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_002959.4 -1 reviewed p.P133 1.000 370 0% 369 41.5% 26 57.6% - - - HMMSmart_SM00602,superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase FAM40A 85369 genome.wustl.edu 37 1 110596374 110596374 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_033088.2 +1 validated p.R785Q 1.000 96 1% 75 33.3% 46 52.1% benign(0.097) tolerated(0.32) neutral(0.032) NULL OVGP1 5016 genome.wustl.edu 37 1 111969400 111969400 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000369728 -1 known p.E15D 0.000 28 0% 34 41.2% 1 100% benign(0.007) tolerated(0.43) neutral(0.013) NULL PHTF1 10745 genome.wustl.edu 37 1 114246778 114246778 + Silent SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_006608.2 -1 validated p.P605 0.000 242 0% 185 29.2% 28 50% - - - NULL MIR942 100126331 genome.wustl.edu 37 1 117637326 117637326 + RNA SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000401111 +1 known NULL 0.013 166 0.6% 160 38.8% 0 - - - - - HSD3B2 3284 genome.wustl.edu 37 1 119964900 119964900 + Missense_Mutation SNP C C T rs80358221 byCluster TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_000198.3 +1 reviewed p.T259M 0.998 172 0.6% 206 37.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_3Beta_HSD,superfamily_NAD(P)-binding Rossmann-fold domains ANKRD35 148741 genome.wustl.edu 37 1 145561263 145561263 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_144698.3 +1 validated p.V317 0.000 193 0% 120 33.3% 0 - - - - NULL GJA8 2703 genome.wustl.edu 37 1 147381051 147381051 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005267.4 +1 reviewed p.Y323 0.956 96 0% 67 34.3% 0 - - - - HMMPfam_Connexin50 PYHIN1 149628 genome.wustl.edu 37 1 158913599 158913599 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_152501.3 +1 validated p.T341M 0.000 188 0.5% 242 32.2% 0 - probably_damaging(0.995) tolerated(0.21) deleterious(0.502) HMMPfam_HIN C1orf9 51430 genome.wustl.edu 37 1 172558838 172558840 + In_Frame_Del DEL AAG AAG - novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_014283.3 +1 validated p.E869in_frame_del 0.997:1.000:1.000 - - - - - - - - - NULL SEC16B 89866 genome.wustl.edu 37 1 177927348 177927348 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_033127.2 -1 validated p.T428 0.002 61 0% 59 33.9% 0 - - - - NULL FAIM3 9214 genome.wustl.edu 37 1 207087164 207087164 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001142472.1 -1 validated p.G105R 0.999 227 0% 201 34.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin ZNF678 339500 genome.wustl.edu 37 1 227842419 227842419 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_178549.3 +1 validated p.D156 0.056 112 0% 130 34.6% 3 66.6% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 OBSCN 84033 genome.wustl.edu 37 1 228471333 228471333 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001098623.1 +1 reviewed p.R2956Q 0.002 37 0% 27 44.4% 4 0% possibly_damaging(0.626) tolerated(0.32) neutral(0.242) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin TTC13 79573 genome.wustl.edu 37 1 231079565 231079565 + Missense_Mutation SNP T T G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_024525.4 -1 validated p.E220A 1.000 261 0% 239 34.3% 1 100% probably_damaging(0.979) tolerated(0.15) deleterious(0.663) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like ARV1 64801 genome.wustl.edu 37 1 231132895 231132897 + In_Frame_Del DEL CTT CTT - novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_022786.1 +1 provisional p.F235in_frame_del 0.438:0.413:0.413 - - - - - - - - - HMMPfam_Arv1 PCNXL2 80003 genome.wustl.edu 37 1 233122155 233122155 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_014801.3 -1 provisional p.E1975K 0.551 15 0% 12 58.3% 6 50% benign(0.005) tolerated(0.3) neutral(0.029) NULL GGPS1 9453 genome.wustl.edu 37 1 235505709 235505709 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001037277.1 +1 reviewed p.P175 0.928 305 0% 356 32.6% 36 52.7% - - - HMMPfam_polyprenyl_synt,superfamily_Terpenoid_synth LYST 1130 genome.wustl.edu 37 1 235955081 235955081 + Silent SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_000081.2 -1 reviewed p.A1487 0.926 352 0.3% 358 34.9% 1 100% - - - NULL CHRM3 1131 genome.wustl.edu 37 1 240071723 240071723 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_000740.2 +1 reviewed p.S324 0.000 41 0% 29 51.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2M5 127059 genome.wustl.edu 37 1 248308665 248308665 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001004690.1 +1 provisional p.M72I 0.000 879 0% 655 38.9% 0 - benign(0.038) tolerated(0.06) neutral(0.325) HMMPfam_7tm_1,superfamily_SSF81321 BIRC6 57448 genome.wustl.edu 37 2 32667448 32667448 + Missense_Mutation SNP T T G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_016252.3 +1 reviewed p.I1388S 0.998 472 0% 466 32.6% 6 83.3% benign(0.318) deleterious(0) deleterious(0.544) NULL THADA 63892 genome.wustl.edu 37 2 43547622 43547622 + Silent SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001083953.1 -1 validated p.T1467 0.079 301 0% 382 17% 14 0% - - - NULL PAPOLG 64895 genome.wustl.edu 37 2 61009087 61009087 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_022894.2 +1 reviewed p.T325M 1.000 415 0% 372 33.3% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAP_central,superfamily_PAP/OAS1 substrate-binding domain B3GNT2 10678 genome.wustl.edu 37 2 62449434 62449434 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_006577.5 +1 reviewed p.V27I 1.000 132 0% 176 36.9% 13 30.7% possibly_damaging(0.537) tolerated(0.16) neutral(0.241) NULL LOC100129162 100129162 genome.wustl.edu 37 2 62780234 62780234 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 XM_001725437.1 -1 model p.S146P 1.000 55 0% 57 17.5% 0 - - - - NULL AAK1 22848 genome.wustl.edu 37 2 69747973 69747973 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_014911.3 -1 reviewed p.Q401H 0.953 233 0% 193 34.2% 7 42.8% benign(0.127) tolerated(0.25) neutral(0.048) NULL DCTN1 1639 genome.wustl.edu 37 2 74594978 74594978 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_004082.3 -1 reviewed p.C677R 1.000 122 0% 84 42.9% 132 46.2% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL LOXL3 84695 genome.wustl.edu 37 2 74761840 74761840 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_032603.2 -1 reviewed p.R547 0.997 84 0% 51 39.2% 6 33.3% - - - HMMPfam_Lysyl_oxidase LIMS1 3987 genome.wustl.edu 37 2 109276096 109276096 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_004987.3 +1 reviewed p.E11G 1.000 278 0% 193 22.3% 22 18.1% benign(0.002) tolerated(0.34) neutral(0.023) HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 SH3RF3 344558 genome.wustl.edu 37 2 110015380 110015380 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000309415 +1 known p.S427L 1.000 55 0% 37 35.1% 3 33.3% benign(0.044) deleterious(0.03) neutral(0.367) NULL EN1 2019 genome.wustl.edu 37 2 119600779 119600779 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001426.3 -1 reviewed p.R305Q 1.000 88 0% 47 40.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like PPIG 9360 genome.wustl.edu 37 2 170493461 170493461 + Nonsense_Mutation SNP C C T rs188830723 by1000genomes TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_004792.2 +1 validated p.R565* 0.996 335 0% 348 12.9% 51 3.9% - - - NULL DNAH7 56171 genome.wustl.edu 37 2 196673491 196673491 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_018897.2 -1 validated p.R3333Q 0.999 399 0% 375 40.5% 1 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Dynein_heavy ALS2CR11 151254 genome.wustl.edu 37 2 202356743 202356743 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000439140 -1 known p.E1441K 0.041 502 0.2% 518 36.9% 0 - benign(0.141) tolerated(0.06) neutral(0.335) NULL NDUFS1 4719 genome.wustl.edu 37 2 207006794 207006794 + Splice_Site SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005006.5 -1 reviewed e11-1 1.000 166 0% 169 34.3% 0 - - - - - ABCB6 10058 genome.wustl.edu 37 2 220074723 220074723 + Nonsense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005689.1 -1 reviewed p.W822* 1.000 297 0% 224 40.2% 51 47% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases CHPF 79586 genome.wustl.edu 37 2 220404225 220404225 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_024536.5 -1 validated p.C736 1.000 22 0% 18 33.3% 269 42.3% - - - HMMPfam_CHGN STK11IP 114790 genome.wustl.edu 37 2 220472845 220472845 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000456909 +1 known p.Q432 1.000 60 0% 32 31.2% 12 33.3% - - - NULL CAPN10 11132 genome.wustl.edu 37 2 241534025 241534025 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_023083.2 +1 reviewed p.G299E 0.999 211 0% 124 29% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases SUMF1 285362 genome.wustl.edu 37 3 4494608 4494608 + Silent SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_182760.3 -1 reviewed p.S132 0.999 215 0% 254 38.2% 31 61.2% - - - HMMPfam_DUF323 GRIP2 80852 genome.wustl.edu 37 3 14559309 14559309 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001080423.1 -1 provisional p.A474V 0.523 19 0% 15 40% 0 - - - - NULL AZI2 64343 genome.wustl.edu 37 3 28373868 28373868 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000429369 -1 known p.H11Y 0.996 684 0% 608 34.5% 47 34% - - - NULL DCLK3 85443 genome.wustl.edu 37 3 36779893 36779893 + Silent SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_033403.1 -1 validated p.D86 0.045 307 0% 205 29.3% 0 - - - - NULL SLC22A13 9390 genome.wustl.edu 37 3 38318438 38318438 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_004256.3 +1 reviewed p.R461Q 0.995 55 0% 43 44.2% 0 - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_MFS_1,superfamily_MFS general substrate transporter NKTR 4820 genome.wustl.edu 37 3 42679241 42679241 + Missense_Mutation SNP G G T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005385.3 +1 reviewed p.S682I 0.934 185 0% 206 36.4% 2 50% unknown(0) deleterious(0) - NULL LAMB2 3913 genome.wustl.edu 37 3 49160347 49160347 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_002292.3 -1 reviewed p.R1455W 1.000 30 0% 25 40% 188 39.8% probably_damaging(1) tolerated(0.18) deleterious(0.556) NULL VPRBP 9730 genome.wustl.edu 37 3 51459868 51459868 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_014703.2 -1 validated p.R568H 1.000 275 0% 274 33.9% 14 50% probably_damaging(0.997) tolerated(0.06) deleterious(0.788) superfamily_ARM repeat PTPRG 5793 genome.wustl.edu 37 3 62257126 62257126 + Nonsense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_002841.3 +1 reviewed p.W1026* 1.000 240 0% 168 29.8% 8 0% - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II MITF 4286 genome.wustl.edu 37 3 69928478 69928478 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_198159.2 +1 reviewed p.V100I 1.000 142 0% 98 34.7% 6 0% probably_damaging(0.975) tolerated(0.19) neutral(0.466) NULL PARP9 83666 genome.wustl.edu 37 3 122247461 122247461 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_031458.2 -1 validated p.C772F 0.891 197 0% 165 40.6% 27 40.7% probably_damaging(0.992) deleterious(0.03) deleterious(0.812) HMMPfam_PARP,superfamily_ADP-ribosylation ITGB5 3693 genome.wustl.edu 37 3 124485152 124485152 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000481591 -1 known p.P376L 0.886 97 0% 73 41.1% 94 47.8% - - - HMMPfam_Integrin_B_tail,superfamily_Integrin beta tail domain C3orf37 56941 genome.wustl.edu 37 3 129020942 129020942 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001006109.1 +1 validated p.N262S 1.000 272 0% 208 35.1% 122 44.2% benign(0.052) tolerated(0.17) neutral(0.062) HMMPfam_DUF159 COL6A6 131873 genome.wustl.edu 37 3 130286032 130286032 + Missense_Mutation SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001102608.1 +1 provisional p.V590A 0.220 27 0% 16 50% 0 - probably_damaging(0.956) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like ATR 545 ucsc.edu 37 3 142281435 142281435 + Frame_Shift_Del DEL A - - novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001184.3 -1 reviewed p.F270fs 1 - - - - - - - - - NULL MME 4311 genome.wustl.edu 37 3 154802023 154802023 + Nonsense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_000902.3 +1 reviewed p.R23* 0.674 185 0.5% 174 39.1% 1 0% - - - NULL GMPS 8833 genome.wustl.edu 37 3 155611478 155611478 + Nonsense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_003875.2 +1 reviewed p.Q67* 1.000 215 0% 211 13.3% 55 1.8% - - - HMMPfam_GATase,superfamily_Class I glutamine amidotransferase-like IQCJ 654502 genome.wustl.edu 37 3 158983136 158983136 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001042705.1 +1 provisional p.I142V 0.000 290 0% 217 30.4% 0 - unknown(0) deleterious(0) - NULL ATP13A5 344905 genome.wustl.edu 37 3 193081072 193081072 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_198505.2 -1 provisional p.D113N 0.996 146 0.7% 123 35.8% 0 - benign(0.293) tolerated(0.46) neutral(0.102) NULL MUC4 4585 genome.wustl.edu 37 3 195506692 195506692 + Missense_Mutation SNP C C T rs142466346 by1000genomes TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_018406.5 -1 reviewed p.R3792H 0.890 11 0% 11 36.4% 0 - possibly_damaging(0.924) - - NULL DOK7 285489 genome.wustl.edu 37 4 3494523 3494524 + Frame_Shift_Del DEL CA CA - novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_173660.4 +1 reviewed p.H272fs 1.000:1.000 - - - - - - - - - NULL PI4K2B 55300 genome.wustl.edu 37 4 25270094 25270094 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_018323.3 +1 validated p.A370T 1.000 332 0% 332 36.4% 20 55% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_PI3_PI4_kinase GABRG1 2565 genome.wustl.edu 37 4 46066480 46066480 + Silent SNP G G T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_173536.3 -1 reviewed p.S201 0.893 194 0% 201 33.8% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL ALB 213 genome.wustl.edu 37 4 74283813 74283813 + Frame_Shift_Del DEL G G - novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_000477.5 +1 reviewed p.V480fs 0.000 - - - - - - - - - superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 ENSG00000207307 0 genome.wustl.edu 37 4 77453415 77453415 + RNA SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000384577 -1 novel NULL 0.015 639 0% 483 37.9% 0 - - - - - MANBA 4126 genome.wustl.edu 37 4 103560923 103560923 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005908.3 -1 reviewed p.A654V 1.000 246 0% 175 33.1% 27 48.1% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_Glyco_hydro_cat KIAA1109 84162 genome.wustl.edu 37 4 123280876 123280876 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_015312.3 +1 reviewed p.R4934G 0.991 299 0% 335 35.8% 30 60% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_FSA_C SCLT1 132320 genome.wustl.edu 37 4 129924975 129924975 + Frame_Shift_Del DEL C C - novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_144643.2 -1 validated p.G116fs 0.240 - - - - - - - - - NULL SCLT1 132320 genome.wustl.edu 37 4 129924979 129924979 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_144643.2 -1 validated p.L115 0.759 629 0% 505 32.3% 2 0% - - - NULL POU4F2 5458 genome.wustl.edu 37 4 147561189 147561189 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_004575.2 +1 validated p.A153 0.981 245 0% 123 48% 0 - - - - NULL ARFIP1 27236 genome.wustl.edu 37 4 153803924 153803925 + Frame_Shift_Del DEL GA GA - novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001025595.1 +1 validated p.E229fs 1.000:1.000 - - - - - - - - - HMMPfam_Arfaptin TLL1 7092 genome.wustl.edu 37 4 166795122 166795122 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_012464.3 +1 reviewed p.Y22 0.621 401 0% 239 38.5% 0 - - - - NULL SPOCK3 50859 genome.wustl.edu 37 4 167656103 167656103 + Missense_Mutation SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_016950.2 -1 validated p.D427G 1.000 823 0.1% 715 34.5% 1 0% unknown(0) - - NULL NEIL3 55247 genome.wustl.edu 37 4 178283539 178283539 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_018248.2 +1 validated p.V578M 1.000 266 0% 296 35.5% 9 44.4% possibly_damaging(0.433) deleterious(0.04) deleterious(0.490) HMMPfam_zf-GRF CEP72 55722 genome.wustl.edu 37 5 633964 633964 + Missense_Mutation SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_018140.3 +1 reviewed p.L198P 1.000 54 0% 39 25.6% 6 66.6% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL DNAH5 1767 genome.wustl.edu 37 5 13810220 13810220 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001369.2 -1 reviewed p.P2519 0.000 10 0% 12 33.3% 0 - - - - NULL NIPBL 25836 genome.wustl.edu 37 5 37057296 37057296 + Silent SNP C C T rs113988530 TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_133433.3 +1 reviewed p.D2424 1.000 290 0.3% 317 38.5% 40 40% - - - superfamily_ARM repeat SNX18 112574 genome.wustl.edu 37 5 53815028 53815028 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_052870.2 +1 reviewed p.A416T 0.969 61 0% 33 36.4% 12 58.3% benign(0.186) tolerated(0.13) neutral(0.270) HMMPfam_BAR_3_WASP_bdg ZSWIM6 57688 genome.wustl.edu 37 5 60840057 60840057 + Silent SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_020928.1 +1 provisional p.I1187 1.000 207 0% 175 32.6% 11 63.6% - - - NULL MAST4 375449 genome.wustl.edu 37 5 66448632 66448632 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_015183.2 +1 validated p.I966V 1.000 129 0% 114 41.2% 6 83.3% benign(0.088) tolerated(0.22) neutral(0.049) HMMSmart_PDZ,superfamily_PDZ MAST4 375449 genome.wustl.edu 37 5 66460440 66460440 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000443808 +1 known p.R868W 0.248 147 0% 100 31% 8 62.5% - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67589605 67589616 + In_Frame_Del DEL TCAAGAAAAAAG TCAAGAAAAAAG - novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 TCAAGAAAAAAG TCAAGAAAAAAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_181523.1 +1 reviewed p.QEKS457in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999 - - - - - - - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67591246 67591246 + Splice_Site SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_181523.1 +1 reviewed e13-2 1.000 595 0% 584 34.9% 1 100% - - - - FAM172A 83989 genome.wustl.edu 37 5 93386436 93386436 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_032042.5 -1 validated p.E103D 1.000 428 0% 467 19.5% 8 0% benign(0.354) tolerated(0.55) neutral(0.119) HMMPfam_Arb2 MCTP1 79772 genome.wustl.edu 37 5 94245014 94245016 + In_Frame_Del DEL CTC CTC - novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_024717.4 -1 validated p.G531in_frame_del 0.932:0.946:1.000 - - - - - - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) NUDT12 83594 genome.wustl.edu 37 5 102890502 102890502 + Silent SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_031438.2 -1 validated p.L339 1.000 249 0% 221 38.5% 8 75% - - - HMMPfam_NUDIX,superfamily_Nudix SEMA6A 57556 genome.wustl.edu 37 5 115783391 115783391 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_020796.3 -1 validated p.Y671H 1.000 59 0% 45 31.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SIL1 64374 genome.wustl.edu 37 5 138282969 138282969 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001037633.1 -1 reviewed p.C408Y 1.000 34 0% 19 42.1% 135 28.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM-type_fold SLC4A9 83697 genome.wustl.edu 37 5 139743767 139743767 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_031467.2 +1 validated p.F461 1.000 58 0% 48 31.2% 0 - - - - HMMPfam_HCO3_cotransp PCDHA11 56138 genome.wustl.edu 37 5 140250915 140250915 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_018902.3 +1 reviewed p.A743T 1.000 79 0% 67 29.9% 0 - benign(0.004) tolerated(0.28) neutral(0.032) NULL PCDHB3 56132 genome.wustl.edu 37 5 140481934 140481934 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_018937.2 +1 reviewed p.N567 0.994 38 0% 22 31.8% 7 0% - - - superfamily_Cadherin-like PCDHB18 54660 genome.wustl.edu 37 5 140616256 140616256 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000274705 +1 known p.A657 0.001 112 0% 87 37.9% 0 - - - - NULL PCDHGA1 56114 genome.wustl.edu 37 5 140712338 140712338 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_018912.2 +1 reviewed p.A696V 0.999 145 0% 75 37.3% 4 25% probably_damaging(0.974) deleterious(0) deleterious(0.861) NULL TCOF1 6949 genome.wustl.edu 37 5 149751628 149751628 + Silent SNP T T A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001135243.1 +1 reviewed p.S233 0.002 109 0% 87 47.1% 15 40% - - - NULL RNF145 153830 genome.wustl.edu 37 5 158585745 158585745 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_144726.1 -1 provisional p.G670V 0.557 204 0% 196 39.3% 115 46.9% benign(0.005) deleterious(0) neutral(0.445) NULL ODZ2 57451 genome.wustl.edu 37 5 166802426 166802426 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001122679.1 +1 inferred p.S150 0.002 67 0% 41 36.6% 0 - - - - HMMPfam_Ten_N FGFR4 2264 genome.wustl.edu 37 5 176522358 176522358 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_002011.3 +1 reviewed p.D516G 1.000 105 0% 54 27.8% 4 25% possibly_damaging(0.912) deleterious(0) deleterious(0.808) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) RAB24 53917 genome.wustl.edu 37 5 176729591 176729591 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001031677.2 -1 validated p.R107H 0.998 215 0% 168 31.5% 47 48.9% benign(0.026) tolerated(0.07) neutral(0.320) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 F12 2161 genome.wustl.edu 37 5 176836063 176836063 + Silent SNP A A C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_000505.3 -1 reviewed p.A33 0.000 211 0% 140 40.7% 0 - - - - NULL N4BP3 23138 genome.wustl.edu 37 5 177547538 177547538 + Missense_Mutation SNP G G T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_015111.1 +1 validated p.K230N 1.000 16 0% 11 45.5% 3 66.6% probably_damaging(0.978) tolerated(0.07) deleterious(0.740) NULL OR2Y1 134083 genome.wustl.edu 37 5 180166695 180166695 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001001657.1 -1 provisional p.R122C 1.000 81 0% 66 28.8% 0 - possibly_damaging(0.557) deleterious(0) deleterious(0.635) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 TRIM41 90933 genome.wustl.edu 37 5 180651512 180651512 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000503114 +1 known p.C152Y 0.653 143 0% 85 29.4% 17 47% - - - superfamily_RING/U-box TRIM52 84851 genome.wustl.edu 37 5 180687617 180687617 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_032765.2 -1 provisional p.E66D 0.000 86 0% 86 38.4% 3 100% benign(0) tolerated(0.18) neutral(0.056) HMMSmart_RING,superfamily_SSF57850 RIPK1 8737 genome.wustl.edu 37 6 3105900 3105900 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000453483 +1 known p.S28N 0.000 130 0% 102 32.4% 10 60% unknown(0) - - NULL BPHL 670 genome.wustl.edu 37 6 3140661 3140661 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_004332.2 +1 reviewed p.A236T 1.000 124 0% 72 29.2% 58 34.4% benign(0) tolerated(1) - HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases DSP 1832 genome.wustl.edu 37 6 7559503 7559503 + Missense_Mutation SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_004415.2 +1 reviewed p.I156T 1.000 192 0% 130 10% 47 40.4% probably_damaging(0.959) deleterious(0.04) deleterious(0.752) superfamily_Spectrin repeat HIST1H1T 3010 genome.wustl.edu 37 6 26108311 26108311 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005323.3 -1 reviewed p.T4I 0.967 77 0% 61 39.3% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL HIST1H2BM 8342 genome.wustl.edu 37 6 27783066 27783066 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_003521.2 +1 reviewed p.A82V 1.000 266 0% 176 40.9% 0 - benign(0.006) tolerated(0.06) neutral(0.323) HMMSmart_H2B,HMMPfam_Histone,superfamily_Histone-fold BAG6 7917 genome.wustl.edu 37 6 31610655 31610655 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_004639.3 -1 reviewed p.A635V 1.000 54 0% 63 31.7% 79 54.4% possibly_damaging(0.606) tolerated(0.07) deleterious(0.529) NULL MSH5 4439 genome.wustl.edu 37 6 31711941 31711941 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_025259.5 +1 reviewed p.P188Q 0.077 155 0% 172 38.4% 0 - benign(0.002) tolerated(0.43) neutral(0.013) NULL SYNGAP1 8831 genome.wustl.edu 37 6 33415704 33415704 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_006772.2 +1 reviewed p.D1293 1.000 68 0% 57 36.8% 7 71.4% - - - NULL FOXP4 116113 genome.wustl.edu 37 6 41562671 41562671 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001012426.1 +1 reviewed p.A534T 1.000 121 0% 90 33.3% 67 43.2% probably_damaging(0.988) deleterious(0) deleterious(0.882) "HMMPfam_Fork_head,HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain" PPP2R5D 5528 genome.wustl.edu 37 6 42977070 42977070 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_006245.2 +1 reviewed p.R421H 1.000 108 0% 101 30.7% 79 54.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_B56 FAM83B 222584 genome.wustl.edu 37 6 54806666 54806666 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001010872.1 +1 validated p.A966V 0.041 174 0% 179 33.5% 8 0% benign(0) tolerated(0.1) neutral(0.286) NULL GFRAL 389400 genome.wustl.edu 37 6 55216163 55216163 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_207410.2 +1 validated p.P161 0.724 444 0% 383 38.1% 0 - - - - HMMPfam_GDNF,superfamily_SSF110035 KLHL32 114792 genome.wustl.edu 37 6 97562270 97562270 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_052904.3 +1 validated p.L413 1.000 118 0.8% 87 40.2% 0 - - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain AIM1 202 genome.wustl.edu 37 6 106968337 106968337 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001624.2 +1 validated p.A677V 0.553 76 0% 83 39.8% 1 100% possibly_damaging(0.471) deleterious(0) deleterious(0.600) NULL ZBTB24 9841 genome.wustl.edu 37 6 109787239 109787239 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_014797.2 -1 validated p.V637M 0.997 342 0% 195 32.8% 8 37.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL FAM184A 79632 genome.wustl.edu 37 6 119399395 119399395 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_024581.4 -1 validated p.P24S 0.873 20 0% 14 28.6% 0 - benign(0) tolerated(0.17) neutral(0.059) NULL SOGA3 387104 genome.wustl.edu 37 6 127797206 127797206 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001012279.2 -1 validated p.E655 0.998 102 1% 85 47.1% 1 100% - - - NULL C6orf97 80129 genome.wustl.edu 37 6 151917521 151917521 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_025059.3 +1 validated p.L507I 0.993 101 1% 80 17.5% 1 0% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL ARID1B 57492 genome.wustl.edu 37 6 157520006 157520006 + Nonsense_Mutation SNP G G T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_017519.2 +1 validated p.G1341* 1.000 41 0% 32 34.4% 14 57.1% - - - NULL MRPL18 29074 genome.wustl.edu 37 6 160218495 160218495 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_014161.3 +1 reviewed p.A139V 0.908 178 0% 132 34.1% 130 33% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_Translational machinery components MLLT4 4301 genome.wustl.edu 37 6 168323616 168323618 + In_Frame_Del DEL CTT CTT - novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001040001.1 +1 validated p.L990in_frame_del 0.996:0.996:0.577 - - - - - - - - - NULL GRID2IP 392862 genome.wustl.edu 37 7 6541522 6541522 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001145118.1 -1 validated p.R1097W 1.000 72 0% 61 29.5% 5 0% possibly_damaging(0.834) tolerated(0.2) neutral(0.367) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd FKBP9 11328 genome.wustl.edu 37 7 33044805 33044805 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_007270.3 +1 validated p.A519T 0.560 374 0% 317 36.3% 79 36.7% benign(0.005) tolerated(0.34) neutral(0.023) HMMSmart_EFh,superfamily_SSF47473 YKT6 10652 genome.wustl.edu 37 7 44250649 44250649 + Nonsense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_006555.3 +1 reviewed p.R163* 1.000 259 0% 224 40.2% 61 8.1% - - - HMMPfam_Synaptobrevin GTF2IRD1 9569 genome.wustl.edu 37 7 73973315 73973315 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000470715 +1 known p.L122F 1.000 94 0% 92 37% 29 55.1% - - - HMMPfam_GTF2I POR 5447 genome.wustl.edu 37 7 75615341 75615341 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000447222 +1 known p.A641T 0.723 31 0% 35 42.9% 199 39.6% - - - HMMPfam_NAD_binding_1,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain CDK14 5218 genome.wustl.edu 37 7 90741975 90741975 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_012395.2 +1 validated p.R407W 1.000 69 0% 35 31.4% 1 0% probably_damaging(0.966) deleterious(0) deleterious(0.853) superfamily_Protein kinase-like (PK-like) SAMD9L 219285 genome.wustl.edu 37 7 92762079 92762079 + Missense_Mutation SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_152703.2 -1 validated p.K1069R 0.000 248 0% 225 35.1% 1 0% benign(0.186) tolerated(0.13) neutral(0.270) NULL ZAN 7455 genome.wustl.edu 37 7 100334137 100334137 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_003386.1 +1 reviewed p.D46 0.002 92 0% 64 31.2% 0 - - - - HMMPfam_MAM,HMMSmart_SM00137 ZAN 7455 genome.wustl.edu 37 7 100373434 100373434 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_003386.1 +1 reviewed p.S2057Y 0.543 189 0% 152 30.9% 0 - unknown(0) - - NULL MUC12 10071 genome.wustl.edu 37 7 100646595 100646595 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000379442 +1 known p.P4394T 0.005 986 0% 801 17.2% 0 - probably_damaging(0.98) - - NULL MUC12 10071 genome.wustl.edu 37 7 100656417 100656417 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000379442 +1 known p.R5354H 0.218 77 1.3% 43 34.9% 0 - probably_damaging(0.957) - - NULL IQUB 154865 genome.wustl.edu 37 7 123142693 123142693 + Missense_Mutation SNP C C G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_178827.4 -1 validated p.K327N 0.001 560 0% 539 31% 0 - benign(0.016) tolerated(0.35) neutral(0.021) NULL GCC1 79571 genome.wustl.edu 37 7 127222361 127222361 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_024523.5 -1 reviewed p.V679I 0.401 233 0% 170 34.7% 13 23% benign(0.001) tolerated(0.21) neutral(0.044) NULL FLNC 2318 genome.wustl.edu 37 7 128483928 128483928 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001458.4 +1 reviewed p.L964 0.998 81 0% 83 45.8% 3 66.6% - - - HMMPfam_Filamin FLNC 2318 genome.wustl.edu 37 7 128484975 128484975 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001458.4 +1 reviewed p.V1152 0.986 40 0% 35 42.9% 4 0% - - - HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin SMO 6608 genome.wustl.edu 37 7 128850360 128850360 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005631.3 +1 provisional p.T541 0.182 43 0% 37 29.7% 93 40.8% - - - HMMPfam_Frizzled KLHDC10 23008 genome.wustl.edu 37 7 129770465 129770465 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_014997.2 +1 validated p.P403H 1.000 281 0% 208 40.9% 72 48.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL STRA8 346673 genome.wustl.edu 37 7 134931215 134931215 + Missense_Mutation SNP G G T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_182489.1 +1 provisional p.G165W 0.011 42 0% 14 50% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL DGKI 9162 genome.wustl.edu 37 7 137172401 137172401 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_004717.2 -1 reviewed p.D779 1.000 259 0% 270 34.1% 0 - - - - NULL WEE2 494551 genome.wustl.edu 37 7 141418949 141418949 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001105558.1 +1 validated p.G221 0.039 528 0% 427 33% 0 - - - - superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase MGAM 8972 genome.wustl.edu 37 7 141765550 141765550 + Silent SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000475668 +1 known p.A1563 0.018 284 0% 207 34.3% 0 - - - - HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases ARHGEF5 7984 genome.wustl.edu 37 7 144060941 144060941 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005435.3 +1 reviewed p.A393 0.000 434 0% 352 19% 11 9% - - - NULL GIMAP1 170575 genome.wustl.edu 37 7 150417808 150417808 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_130759.2 +1 reviewed p.R239Q 0.000 18 0% 17 23.5% 0 - possibly_damaging(0.737) tolerated(0.63) neutral(0.273) HMMPfam_AIG1,superfamily_P-loop containing nucleoside triphosphate hydrolases MLL3 58508 genome.wustl.edu 37 7 151843732 151843732 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000360104 -1 known p.G2222R 0.998 179 0% 157 40.8% 12 58.3% - - - HMMPfam_FYRC,HMMSmart_SM00542 MIR598 693183 genome.wustl.edu 37 8 10892732 10892734 + RNA DEL GAC GAC - novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 GAC GAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000384868 -1 known NULL 0.952:0.967:0.967 - - - - - - - - - - PSD3 23362 genome.wustl.edu 37 8 18393318 18393318 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_015310.3 -1 validated p.R1027C 1.000 352 0% 255 33.3% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SH2D4A 63898 genome.wustl.edu 37 8 19250946 19250946 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_022071.3 +1 validated p.D389G 0.390 158 0% 110 37.3% 4 25% benign(0.148) tolerated(0.12) neutral(0.274) HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 HR 55806 genome.wustl.edu 37 8 21984798 21984798 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005144.4 -1 reviewed p.R386L 0.926 48 0% 36 44.4% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SLC39A14 23516 genome.wustl.edu 37 8 22267591 22267591 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_015359.4 +1 validated p.T197M 1.000 239 0.4% 190 32.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Zip UNC5D 137970 genome.wustl.edu 37 8 35579762 35579762 + Silent SNP G G A rs141612901 by1000genomes TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_080872.2 +1 validated p.S384 0.086 374 0% 269 31.2% 0 - - - - NULL ANK1 286 genome.wustl.edu 37 8 41572594 41572594 + Splice_Site SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001142446.1 -1 reviewed e15-2 1.000 63 0% 40 32.5% 0 - - - - - NSMAF 8439 genome.wustl.edu 37 8 59522169 59522169 + Silent SNP G G C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001144772.1 -1 reviewed p.G258 1.000 166 0% 125 27.2% 16 37.5% - - - HMMPfam_GRAM,HMMSmart_SM00568,superfamily_PH domain-like VCPIP1 80124 genome.wustl.edu 37 8 67577076 67577078 + In_Frame_Del DEL CTC CTC - novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_025054.4 -1 validated p.E706in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL TRPA1 8989 genome.wustl.edu 37 8 72959419 72959419 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_007332.2 -1 reviewed p.L643 0.000 291 0.7% 280 38.6% 0 - - - - superfamily_Ankyrin repeat ZFHX4 79776 genome.wustl.edu 37 8 77763332 77763332 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_024721.4 +1 validated p.R1347H 1.000 214 0% 178 36% 1 0% possibly_damaging(0.646) - - NULL TP53INP1 94241 genome.wustl.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_033285.3 -1 validated p.E52in_frame_del 0.971:0.979:0.009 - - - - - - - - - NULL TRHR 7201 genome.wustl.edu 37 8 110131437 110131437 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_003301.4 +1 reviewed p.P317L 1.000 330 0% 321 32.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 PHF20L1 51105 genome.wustl.edu 37 8 133829187 133829187 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_016018.4 +1 validated p.R413K 1.000 150 0% 143 31.5% 14 14.2% probably_damaging(0.974) deleterious(0.03) deleterious(0.780) NULL LOC100288108 100288108 genome.wustl.edu 37 8 140631281 140631281 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 XM_002342878.1 +1 model p.H342N 1.000 80 0% 53 35.8% 0 - - - - NULL C9orf93 203238 genome.wustl.edu 37 9 15594121 15594123 + In_Frame_Del DEL AAG AAG - novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_173550.2 +1 predicted p.E211in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL ENSG00000221917 0 genome.wustl.edu 37 9 69432723 69432723 + Nonsense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000333394 +1 known p.Q24* 0.000 228 0% 184 20.1% 0 - - - - NULL PSAT1 29968 genome.wustl.edu 37 9 80932598 80932598 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_058179.2 +1 reviewed p.Y249 0.920 355 0.6% 318 35.8% 94 42.5% - - - HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases S1PR3 1903 genome.wustl.edu 37 9 91616827 91616827 + Missense_Mutation SNP T T A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005226.2 +1 reviewed p.S238T 1.000 106 0% 106 34.9% 21 42.8% benign(0.001) tolerated(0.19) neutral(0.050) HMMPfam_7tm_1,superfamily_SSF81321 ZNF367 195828 genome.wustl.edu 37 9 99160556 99160556 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_153695.3 -1 validated p.R154H 1.000 300 0% 265 37.7% 2 0% probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL SLC44A1 23446 genome.wustl.edu 37 9 108127819 108127819 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_080546.3 +1 validated p.R437C 1.000 283 0% 308 31.8% 52 51.9% benign(0.006) tolerated(0.07) neutral(0.319) HMMPfam_DUF580 MUSK 4593 genome.wustl.edu 37 9 113459615 113459615 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005592.3 +1 reviewed p.R166Q 0.998 221 0% 229 36.2% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin DFNB31 25861 genome.wustl.edu 37 9 117186681 117186681 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_015404.3 -1 reviewed p.R450H 0.999 58 0% 35 45.7% 6 66.6% benign(0.003) deleterious(0) neutral(0.445) NULL NEK6 10783 genome.wustl.edu 37 9 127055225 127055225 + Silent SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001145001.2 +1 reviewed p.P2 0.002 134 0% 117 35% 0 - - - - NULL OLFML2A 169611 genome.wustl.edu 37 9 127566530 127566531 + In_Frame_Ins INS - - GCC novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_182487.2 +1 validated p.360in_frame_insA 0.000:0.000 - - - - - - - - - NULL COQ4 51117 genome.wustl.edu 37 9 131087458 131087458 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_016035.3 +1 validated p.R80H 0.000 65 0% 76 40.8% 42 19% benign(0.012) tolerated(0.58) neutral(0.005) HMMPfam_Coq4 SLC27A4 10999 genome.wustl.edu 37 9 131117953 131117953 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005094.3 +1 reviewed p.A551V 1.000 41 0% 15 46.7% 71 46.4% probably_damaging(0.994) tolerated(0.07) deleterious(0.771) superfamily_Acetyl-CoA synthetase-like CEL 1056 genome.wustl.edu 37 9 135940544 135940544 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001807.3 +1 reviewed p.R156H 0.562 62 0% 31 38.7% 15 33.3% probably_damaging(0.999) tolerated(0.36) deleterious(0.510) HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases FBXW5 54461 genome.wustl.edu 37 9 139835466 139835466 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_018998.2 -1 reviewed p.R539C 1.000 56 0% 31 38.7% 186 36% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 NDOR1 27158 genome.wustl.edu 37 9 140110748 140110748 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001144027.1 +1 reviewed p.T517M 0.005 53 0% 34 41.2% 21 61.9% possibly_damaging(0.938) - - NULL ADARB2 105 genome.wustl.edu 37 10 1313212 1313212 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_018702.2 -1 reviewed p.T377M 0.988 125 0% 109 37.6% 0 - probably_damaging(0.986) tolerated(0.21) deleterious(0.478) HMMSmart_ADEAMc CALML3 810 genome.wustl.edu 37 10 5567436 5567436 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005185.2 +1 validated p.D130N 0.932 58 0% 39 43.6% 53 39.6% benign(0.125) deleterious(0) neutral(0.455) HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand ITIH2 3698 genome.wustl.edu 37 10 7791261 7791261 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_002216.2 +1 validated p.F935 0.810 235 0.4% 203 29.1% 0 - - - - NULL PRPF18 8559 genome.wustl.edu 37 10 13658484 13658484 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_003675.3 +1 reviewed p.G293 0.232 285 0% 256 38.3% 25 48% - - - HMMPfam_Prp18,superfamily_Functional domain of the splicing factor Prp18 ZEB1 6935 genome.wustl.edu 37 10 31784758 31784758 + Nonsense_Mutation SNP G G T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_030751.5 +1 reviewed p.G104* 0.818 272 0% 283 34.6% 2 0% - - - NULL WDFY4 57705 genome.wustl.edu 37 10 49998857 49998857 + Silent SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000312002 +1 known p.S475G 0.983 182 0% 124 26.6% 0 - - - - NULL NEUROG3 50674 genome.wustl.edu 37 10 71332357 71332357 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_020999.3 -1 reviewed p.A148V 0.002 41 0% 30 53.3% 0 - benign(0.014) tolerated(0.09) neutral(0.297) superfamily_HLH_basic KIAA0913 23053 genome.wustl.edu 37 10 75553687 75553687 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_015037.2 +1 validated p.A837V 0.999 131 0% 86 31.4% 13 46.1% benign(0.076) tolerated(0.19) neutral(0.055) NULL FAM22B 729262 genome.wustl.edu 37 10 81471528 81471528 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000429828 +1 known p.R642W 0.000 281 0% 218 12.8% 4 50% benign(0) deleterious(0.01) neutral(0.406) NULL PTEN 5728 genome.wustl.edu 37 10 89711875 89711875 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000371953 +1 known p.G165R 1.000 379 0% 313 68.7% 56 96.4% possibly_damaging(0.943) deleterious(0) deleterious(0.832) HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II KIF20B 9585 genome.wustl.edu 37 10 91512410 91512410 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_016195.2 +1 validated p.V1397M 0.000 262 0% 262 42% 10 50% possibly_damaging(0.774) deleterious(0.02) deleterious(0.671) NULL PLCE1 51196 genome.wustl.edu 37 10 95987095 95987095 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_016341.3 +1 reviewed p.T614 0.044 226 0% 201 25.9% 0 - - - - HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF SORBS1 10580 genome.wustl.edu 37 10 97194456 97194456 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001034954.1 -1 validated p.R32H 0.985 167 0% 201 39.3% 0 - probably_damaging(0.989) tolerated(0.15) deleterious(0.680) NULL TLL2 7093 genome.wustl.edu 37 10 98273343 98273343 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_012465.3 -1 validated p.A34T 0.000 14 0.000 8 0.750 0 - benign(0.002) tolerated(0.39) neutral(0.016) NULL CRTAC1 55118 genome.wustl.edu 37 10 99664517 99664517 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_018058.4 -1 validated p.R302H 0.890 106 0% 60 31.7% 2 0% probably_damaging(0.993) tolerated(0.56) neutral(0.457) HMMPfam_FG-GAP,superfamily_Integrin alpha N-terminal domain PPRC1 23082 genome.wustl.edu 37 10 103892905 103892905 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_015062.3 +1 reviewed p.A27V 0.923 16 0.000 9 0.444 1 0% benign(0.001) tolerated(1) - NULL ENSG00000207029 0 genome.wustl.edu 37 10 104351367 104351367 + RNA SNP C C T rs143738393 by1000genomes TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000384302 +1 novel NULL 0.000 122 2.5% 45 28.9% 0 - - - - - MIR1307 100302174 genome.wustl.edu 37 10 105154047 105154047 + RNA SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000408840 -1 known NULL 0.319 206 0.5% 156 41% 2 50% - - - - PPP2R2D 55844 genome.wustl.edu 37 10 133761150 133761150 + Missense_Mutation SNP T T G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000455566 +1 known p.S282A 0.997 142 0% 127 37.8% 53 49% benign(0.005) deleterious(0.01) neutral(0.406) HMMSmart_SM00320,superfamily_WD40 repeat-like AP2A2 161 genome.wustl.edu 37 11 984657 984657 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_012305.2 +1 validated p.A240T 0.996 155 0.6% 100 35% 51 41.1% benign(0.001) deleterious(0.04) neutral(0.349) HMMPfam_Adaptin_N,superfamily_ARM repeat MUC2 4583 genome.wustl.edu 37 11 1092128 1092128 + Missense_Mutation SNP G G T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_002457.2 +1 reviewed p.S1316I 0.003 122 0% 113 37.2% 0 - benign(0.055) - - NULL MUC5B 727897 genome.wustl.edu 37 11 1278483 1278483 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_002458.1 +1 validated p.P5420 0.008 156 0% 116 37.1% 0 - - - - HMMSmart_SM00214,HMMSmart_SM00215 ART5 116969 genome.wustl.edu 37 11 3661585 3661586 + In_Frame_Ins INS - - TGG rs80248801 TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001079536.1 -1 reviewed p.25in_frame_insT 0.993:0.975 - - - - - - - - - superfamily_ADP-ribosylation DCHS1 8642 genome.wustl.edu 37 11 6652302 6652302 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_003737.2 -1 reviewed p.S1304 1.000 33 0% 18 55.6% 8 25% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin TUB 7275 genome.wustl.edu 37 11 8120366 8120366 + Missense_Mutation SNP T T G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_003320.4 +1 reviewed p.S409A 0.867 219 0% 136 35.3% 3 0% benign(0) tolerated(0.68) neutral(0.002) HMMPfam_Tub,superfamily_Tubby_C ENSG00000236919 0 genome.wustl.edu 37 11 50206697 50206697 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000435540 -1 known p.T37 1.000 40 0% 23 17.4% 0 - - - - superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ENSG00000166007 0 genome.wustl.edu 37 11 55059650 55059650 + Silent SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000309470 -1 known p.E420 0.052 267 0% 273 35.2% 0 - - - - HMMPfam_SPRY ENSG00000166007 0 genome.wustl.edu 37 11 55059906 55059906 + Nonsense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000309470 -1 known p.W335* 0.019 344 0% 337 37.1% 0 - - - - NULL ZP1 22917 genome.wustl.edu 37 11 60637023 60637023 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_207341.2 +1 validated p.H111R 0.998 219 0% 189 34.4% 0 - possibly_damaging(0.481) deleterious(0.05) deleterious(0.505) NULL STX5 6811 genome.wustl.edu 37 11 62595063 62595063 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_003164.3 -1 validated p.R89Q 1.000 224 0% 225 32% 63 44.4% benign(0.006) tolerated(0.67) neutral(0.003) superfamily_t-snare proteins YIF1A 10897 genome.wustl.edu 37 11 66052851 66052851 + Splice_Site SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_020470.2 -1 validated e6+1 1.000 48 0% 18 33.3% 2 100% - - - - ANKRD13D 338692 genome.wustl.edu 37 11 67068601 67068601 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_207354.2 +1 validated p.G318D 1.000 159 0% 103 40.8% 62 51.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NADSYN1 55191 genome.wustl.edu 37 11 71202000 71202000 + Missense_Mutation SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_018161.4 +1 validated p.F558L 0.999 88 0% 73 38.4% 75 57.3% benign(0.022) tolerated(0.51) neutral(0.010) HMMPfam_NAD_synthase,superfamily_Adenine nucleotide alpha hydrolases-like DEFB108B 245911 genome.wustl.edu 37 11 71548473 71548473 + Silent SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001002035.1 +1 provisional p.E29 0.976 221 0% 231 32.9% 0 - - - - HMMPfam_Defensin_beta STARD10 10809 genome.wustl.edu 37 11 72466011 72466011 + Silent SNP G G T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_006645.2 -1 validated p.A269 0.443 34 0% 18 44.4% 135 45.9% - - - NULL DLG2 1740 genome.wustl.edu 37 11 83544657 83544657 + Silent SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001142699.1 -1 reviewed p.S574 0.988 179 0% 207 13.5% 0 - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like NOX4 50507 genome.wustl.edu 37 11 89155084 89155084 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_016931.3 -1 reviewed p.T205 1.000 272 0.4% 307 34.5% 6 33.3% - - - HMMPfam_Ferric_reduct SCARNA9 619383 genome.wustl.edu 37 11 93454832 93454837 + RNA DEL GTGTGT GTGTGT - rs143635317 by1000genomes TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 GTGTGT GTGTGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NR_002569.1 +1 provisional NULL 0.007:0.008:0.006:0.000:0.000:0.000 - - - - - - - - - - SESN3 143686 genome.wustl.edu 37 11 94911960 94911960 + Missense_Mutation SNP C C G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_144665.2 -1 provisional p.V324L 1.000 326 0% 303 36.3% 27 51.8% possibly_damaging(0.775) tolerated(0.35) neutral(0.309) HMMPfam_PA26 ARHGAP42 143872 genome.wustl.edu 37 11 100847632 100847632 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_152432.2 +1 provisional p.P775S 1.000 198 0% 172 30.2% 2 0% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL APOA4 337 genome.wustl.edu 37 11 116692557 116692557 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_000482.3 -1 reviewed p.A73T 0.013 138 0% 105 32.4% 0 - benign(0.015) tolerated(0.38) neutral(0.018) HMMPfam_Apolipoprotein,superfamily_Apolipoprotein DDX25 29118 genome.wustl.edu 37 11 125791155 125791155 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_013264.3 +1 reviewed p.D424G 1.000 62 0% 53 30.2% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases CHD4 1108 genome.wustl.edu 37 12 6701583 6701583 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001273.2 -1 reviewed p.R975H 1.000 133 0% 119 20.2% 168 44.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF2_N LEPREL2 10536 genome.wustl.edu 37 12 6939549 6939549 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_014262.3 +1 validated p.G228D 0.016 71 0% 41 41.5% 34 55.8% - - - NULL LEPREL2 10536 genome.wustl.edu 37 12 6940998 6940998 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000290510 +1 known p.R377C 0.000 130 0% 122 29.5% 74 56.7% possibly_damaging(0.845) tolerated(0.05) deleterious(0.669) NULL PTPN6 5777 genome.wustl.edu 37 12 7069299 7069299 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_080549.3 +1 reviewed p.A493V 0.984 54 0% 29 31% 62 43.5% probably_damaging(0.966) deleterious(0.02) deleterious(0.791) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II LRP6 4040 genome.wustl.edu 37 12 12291316 12291316 + Nonsense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_002336.2 -1 reviewed p.R1184* 1.000 594 0% 461 35.6% 10 0% - - - HMMPfam_Ldl_recept_b,superfamily_YWTD domain ATF7IP 55729 genome.wustl.edu 37 12 14576892 14576892 + Nonsense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_018179.3 +1 validated p.R15* 1.000 116 0.9% 150 34% 20 60% - - - NULL PYROXD1 79912 genome.wustl.edu 37 12 21598309 21598309 + Missense_Mutation SNP T T A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_024854.3 +1 validated p.V65D 1.000 171 0% 207 33.8% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pyr_redox_2,superfamily_SSF51905 GYS2 2998 genome.wustl.edu 37 12 21721870 21721870 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_021957.3 -1 reviewed p.C251Y 1.000 303 0% 275 34.2% 0 - possibly_damaging(0.95) tolerated(1) neutral(0.394) HMMPfam_Glycogen_syn,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase KRAS 3845 genome.wustl.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T rs112445441 byCluster TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_033360.2 -1 reviewed p.G13D 1.000 391 0% 378 32.8% 14 50% benign(0.184) deleterious(0) neutral(0.462) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases CCDC91 55297 genome.wustl.edu 37 12 28544297 28544297 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_018318.3 +1 validated p.A239T 1.000 258 0% 224 31.2% 14 21.4% probably_damaging(0.979) tolerated(0.2) deleterious(0.471) NULL TMTC1 83857 genome.wustl.edu 37 12 29667535 29667535 + Silent SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_175861.2 -1 provisional p.A662 0.819 410 0% 352 33.8% 0 - - - - HMMPfam_TPR_2,HMMSmart_SM00028,superfamily_TPR-like SLC2A13 114134 genome.wustl.edu 37 12 40345158 40345158 + Missense_Mutation SNP A A T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_052885.3 -1 validated p.V312E 1.000 225 0% 166 38.6% 0 - benign(0.427) tolerated(0.08) neutral(0.439) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter CNTN1 1272 genome.wustl.edu 37 12 41312464 41312464 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001843.2 +1 reviewed p.G40R 1.000 247 0% 235 32.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PPHLN1 51535 genome.wustl.edu 37 12 42836514 42836514 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_016488.6 +1 reviewed p.E366K 0.443 100 0% 65 40% 5 40% benign(0) deleterious(0) neutral(0.445) NULL PFKM 5213 genome.wustl.edu 37 12 48539462 48539462 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_000289.5 +1 reviewed p.R772W 0.945 148 0% 129 37.2% 195 43% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_Phosphofructokinase CELA1 1990 genome.wustl.edu 37 12 51736468 51736468 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001971.5 -1 reviewed p.V73M 1.000 133 0% 99 42.4% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys SLC4A8 9498 genome.wustl.edu 37 12 51853749 51853749 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001039960.1 +1 validated p.F290 1.000 182 0% 199 37.7% 0 - - - - HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein HOXC6 3223 genome.wustl.edu 37 12 54423444 54423444 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_004503.3 +1 reviewed p.G136S 1.000 152 0% 142 35.9% 32 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Homeodomain-like ITGA7 3679 genome.wustl.edu 37 12 56088563 56088563 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001144996.1 -1 reviewed p.A736V 0.997 67 0% 49 36.7% 10 20% benign(0) tolerated(0.31) neutral(0.027) HMMPfam_Integrin_alpha2,superfamily_Integrin domains OBFC2B 79035 genome.wustl.edu 37 12 56620169 56620169 + Silent SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_024068.3 +1 validated p.S134 0.761 287 0% 192 40.6% 36 47.2% - - - NULL ANKRD52 283373 genome.wustl.edu 37 12 56651122 56651122 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_173595.3 -1 validated p.L45 1.000 231 0% 215 35.8% 4 75% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK PHLDA1 22822 genome.wustl.edu 37 12 76424723 76424723 + Missense_Mutation SNP G G C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_007350.3 -1 reviewed p.P267A 1.000 110 0% 56 42.9% 155 42.5% benign(0.025) tolerated(0.66) neutral(0.004) HMMSmart_PH,superfamily_SSF50729 NAP1L1 4673 genome.wustl.edu 37 12 76449901 76449901 + Missense_Mutation SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_004537.4 -1 reviewed p.K157R 0.999 653 0% 621 31.7% 362 0% benign(0.394) tolerated(0.13) neutral(0.379) HMMPfam_NAP MYF5 4617 genome.wustl.edu 37 12 81111049 81111049 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005593.2 +1 validated p.M69I 1.000 19 0% 24 45.8% 0 - benign(0.013) tolerated(0.17) neutral(0.059) HMMPfam_Basic,HMMSmart_BASIC STAB2 55576 genome.wustl.edu 37 12 104098349 104098349 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_017564.9 +1 reviewed p.T1286K 0.000 438 0% 425 35.1% 0 - benign(0) tolerated(1) - NULL HCFC2 29915 genome.wustl.edu 37 12 104473309 104473309 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_013320.2 +1 reviewed p.P187H 1.000 310 0% 323 34.7% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Galactose oxidase central domain BTBD11 121551 genome.wustl.edu 37 12 108008866 108008866 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001018072.1 +1 validated p.S643F 1.000 372 0% 314 35.7% 3 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Ankyrin repeat MYO1H 283446 genome.wustl.edu 37 12 109826583 109826583 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001101421.3 +1 provisional p.D20 0.793 228 0% 191 39.8% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases TBX5 6910 genome.wustl.edu 37 12 114793686 114793686 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_000192.3 -1 reviewed p.S403N 0.980 57 0% 47 34% 0 - benign(0.086) deleterious(0) neutral(0.451) NULL GALNT9 50614 genome.wustl.edu 37 12 132683794 132683794 + Missense_Mutation SNP A A T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000328957 -1 known p.S474R 0.024 31 0% 24 37.5% 1 0% benign(0.123) tolerated(0.33) neutral(0.034) HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins GOLGA3 2802 genome.wustl.edu 37 12 133351715 133351715 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000456883 -1 known p.P1385 0.000 68 0% 53 30.2% 0 - - - - NULL SHISA2 387914 genome.wustl.edu 37 13 26620848 26620848 + Nonsense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001007538.1 -1 provisional p.Q231* 1.000 184 0% 121 43.8% 0 - - - - NULL TRPC4 7223 genome.wustl.edu 37 13 38266398 38266398 + Silent SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_003306.1 -1 validated p.R324 0.976 236 0% 202 32.2% 1 0% - - - NULL FREM2 341640 genome.wustl.edu 37 13 39424265 39424265 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_207361.4 +1 reviewed p.Q2157R 0.254 281 0.7% 222 39.2% 2 0% benign(0) tolerated(0.23) neutral(0.042) HMMPfam_Calx-beta,HMMSmart_SM00237 PCDH17 27253 genome.wustl.edu 37 13 58206890 58206890 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001040429.2 +1 reviewed p.S70 0.194 33 0% 22 54.5% 0 - - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like MYCBP2 23077 genome.wustl.edu 37 13 77640128 77640128 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_015057.4 -1 validated p.A4146V 1.000 150 0% 141 31.9% 17 64.7% possibly_damaging(0.672) tolerated(0.08) deleterious(0.538) NULL ABCC4 10257 genome.wustl.edu 37 13 95705413 95705413 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005845.3 -1 reviewed p.M1131T 1.000 332 0% 391 35.3% 2 0% possibly_damaging(0.813) deleterious(0) deleterious(0.752) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases LOC121906 121906 genome.wustl.edu 37 13 98128188 98128188 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 XM_002344083.1 +1 model p.H150R 1.000 111 0% 127 12.6% 0 - - - - HMMPfam_Proteasome,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) ABHD4 63874 genome.wustl.edu 37 14 23075370 23075370 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_022060.2 +1 validated p.K228R 1.000 292 0% 234 37.6% 31 45.1% probably_damaging(0.991) tolerated(0.28) deleterious(0.476) HMMPfam_Abhydrolase_1,superfamily_SSF53474 CPNE6 9362 genome.wustl.edu 37 14 24546444 24546444 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_006032.2 +1 reviewed p.R461C 1.000 86 0% 38 31.6% 1 0% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) HMMSmart_SM00327,HMMPfam_Copine,superfamily_vWA-like NFATC4 4776 genome.wustl.edu 37 14 24845275 24845275 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001136022.1 +1 reviewed p.R738H 1.000 95 0% 68 30.9% 45 31.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TIG,HMMSmart_IPT,superfamily_Ig_E-set DLGAP5 9787 genome.wustl.edu 37 14 55618608 55618608 + Missense_Mutation SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_014750.4 -1 validated p.S725G 0.001 280 0% 322 34.2% 48 45.8% benign(0.054) tolerated(0.24) neutral(0.041) NULL HIF1A 3091 genome.wustl.edu 37 14 62200996 62200996 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001530.3 +1 validated p.V341I 1.000 296 0% 278 34.5% 69 53.6% possibly_damaging(0.828) tolerated(0.12) deleterious(0.575) HMMSmart_SM00086,superfamily_PYP-like sensor domain (PAS domain) PTPN21 11099 genome.wustl.edu 37 14 88946066 88946066 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_007039.3 -1 reviewed p.P570L 0.994 5 0.000 18 0.500 2 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SERPINA12 145264 genome.wustl.edu 37 14 94962888 94962888 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_173850.2 -1 provisional p.R243C 0.057 267 0% 254 36.6% 0 - possibly_damaging(0.902) deleterious(0.01) deleterious(0.762) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin BEGAIN 57596 genome.wustl.edu 37 14 101005141 101005141 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_020836.3 -1 validated p.S316N 1.000 50 0% 21 38.1% 3 33.3% benign(0.005) tolerated(0.27) neutral(0.034) NULL IGHG4 3503 genome.wustl.edu 37 14 106091088 106091088 + Missense_Mutation SNP C C G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000390543 -1 known p.E237Q 0.020 538 0% 415 15.2% 13 0% probably_damaging(0.993) tolerated(0.4) neutral(0.466) HMMPfam_C1-set,superfamily_SSF48726 IGHG2 3501 genome.wustl.edu 37 14 106110859 106110859 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000390545 -1 known p.S90N 0.059 504 0.2% 355 32.4% 14 0% benign(0.051) deleterious(0) neutral(0.448) HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 RYR3 6263 genome.wustl.edu 37 15 34040341 34040341 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001036.3 +1 validated p.A2672 0.996 182 0% 136 39% 0 - - - - HMMPfam_RyR STARD9 57519 genome.wustl.edu 37 15 42978235 42978235 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 XM_001129482.3 +1 model p.L1401I 0.995 145 0% 118 39.8% 4 100% probably_damaging(0.995) - - NULL TGM5 9333 genome.wustl.edu 37 15 43531252 43531252 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_201631.3 -1 reviewed p.V370I 0.833 137 0% 136 27.2% 0 - benign(0.001) tolerated(0.09) neutral(0.296) superfamily_Cysteine proteinases SLC27A2 11001 genome.wustl.edu 37 15 50519341 50519341 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_003645.3 +1 reviewed p.I475V 0.909 349 0% 360 33.9% 6 66.6% benign(0) tolerated(0.75) neutral(0.002) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like UACA 55075 genome.wustl.edu 37 15 70961645 70961645 + Silent SNP G G T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_018003.2 -1 validated p.R460 0.390 456 0.4% 430 34% 20 50% - - - NULL CSK 1445 genome.wustl.edu 37 15 75094839 75094839 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001127190.1 +1 validated p.H446 0.595 29 0% 12 66.7% 128 43.7% - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) TMC3 342125 genome.wustl.edu 37 15 81624961 81624961 + Silent SNP G G A rs115607037 by1000genomes TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001080532.1 -1 provisional p.F1034 0.000 88 0% 48 43.8% 0 - - - - NULL NMB 4828 genome.wustl.edu 37 15 85198560 85198560 + Missense_Mutation SNP G G T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_205858.1 -1 validated p.H136N 0.116 228 0% 181 11% 35 20% benign(0.382) - - NULL FANCI 55215 genome.wustl.edu 37 15 89837161 89837161 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001113378.1 +1 reviewed p.A797T 0.006 373 0% 352 39.2% 34 44.1% benign(0.01) tolerated(0.39) neutral(0.017) NULL CRAMP1L 57585 genome.wustl.edu 37 16 1676044 1676044 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_020825.3 +1 validated p.S139 0.050 164 0% 112 33% 2 0% - - - NULL SHISA9 729993 genome.wustl.edu 37 16 12996406 12996406 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001145204.2 +1 validated p.A203V 1.000 53 0% 26 53.8% 0 - probably_damaging(0.999) tolerated(0.12) deleterious(0.751) NULL PDZD9 255762 genome.wustl.edu 37 16 21995949 21995949 + Missense_Mutation SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_173806.3 -1 validated p.E83G 0.000 172 0% 226 33.6% 0 - benign(0) tolerated(0.33) neutral(0.024) NULL PALB2 79728 genome.wustl.edu 37 16 23637666 23637666 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_024675.3 -1 reviewed p.A880V 0.967 264 0% 230 32.2% 13 38.4% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) superfamily_WD40_like RBBP6 5930 genome.wustl.edu 37 16 24581211 24581211 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_006910.4 +1 reviewed p.P1067L 1.000 129 0.8% 177 18.6% 20 25% probably_damaging(0.99) - - NULL RABEP2 79874 genome.wustl.edu 37 16 28925741 28925741 + Frame_Shift_Del DEL A A - novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_024816.2 -1 validated p.F237fs 1.000 - - - - - - - - - PatternScan_ODR_DC_2_2 RRN3P2 653390 genome.wustl.edu 37 16 29110458 29110458 + Missense_Mutation SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000427965 +1 known p.W375R 0.991 172 1.7% 145 27.6% 0 - benign(0) tolerated(1) - HMMPfam_RRN3 PRR14 78994 genome.wustl.edu 37 16 30666862 30666862 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_024031.2 +1 provisional p.P452T 0.866 139 0% 144 38.2% 56 83.9% probably_damaging(0.995) tolerated(0.18) deleterious(0.514) NULL ITGAX 3687 genome.wustl.edu 37 16 31374590 31374590 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_000887.3 +1 reviewed p.K535 0.005 310 0% 186 41.9% 1 0% - - - HMMPfam_FG-GAP,HMMSmart_Int_alpha,superfamily_SSF69318 GPT2 84706 genome.wustl.edu 37 16 46940859 46940859 + Missense_Mutation SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_133443.2 +1 validated p.L183P 1.000 164 0% 142 27.5% 55 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases MT2A 4502 genome.wustl.edu 37 16 56642916 56642916 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005953.3 +1 validated p.T14I 0.996 150 0% 115 11.3% 1534 2.4% benign(0.201) deleterious(0) neutral(0.464) HMMPfam_Metallothio,superfamily_Metallothionein,PatternScan_METALLOTHIONEIN_VRT ZFHX3 463 genome.wustl.edu 37 16 72992931 72992931 + Nonsense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_006885.3 -1 reviewed p.R372* 1.000 113 0.9% 102 43.1% 2 50% - - - NULL MBTPS1 8720 genome.wustl.edu 37 16 84129282 84129282 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_003791.2 -1 reviewed p.R184W 1.000 121 0.8% 60 40% 69 44.9% possibly_damaging(0.951) deleterious(0) deleterious(0.839) superfamily_Pept_S8_S53 KIAA0664 23277 genome.wustl.edu 37 17 2601443 2601443 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_015229.3 -1 validated p.R532W 0.997 58 0% 15 40% 58 51.7% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL ZZEF1 23140 genome.wustl.edu 37 17 3924599 3924599 + Missense_Mutation SNP G G T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_015113.3 -1 validated p.L2410M 1.000 169 0% 108 41.7% 10 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GP1BA 2811 genome.wustl.edu 37 17 4836578 4836578 + Missense_Mutation SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_000173.5 +1 reviewed p.C227R 1.000 108 0% 100 30% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_LRRCT,superfamily_SSF52058 KIF1C 10749 genome.wustl.edu 37 17 4905787 4905787 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_006612.5 +1 validated p.R153Q 1.000 154 0% 130 37.7% 71 47.8% possibly_damaging(0.886) tolerated(0.11) deleterious(0.618) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 SLC2A4 6517 genome.wustl.edu 37 17 7187354 7187354 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001042.2 +1 reviewed p.G170 0.976 69 0% 34 44.1% 4 0% - - - HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter CNTROB 116840 genome.wustl.edu 37 17 7852766 7852766 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000380262 +1 known p.R906W 0.307 131 0% 82 28% 28 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARHGEF15 22899 genome.wustl.edu 37 17 8222648 8222648 + Nonsense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_173728.2 +1 reviewed p.W735* 1.000 87 0% 97 37.1% 2 0% - - - superfamily_SSF50729 MYH8 4626 genome.wustl.edu 37 17 10307717 10307717 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_002472.2 -1 reviewed p.R873Q 1.000 713 0% 575 34.3% 0 - possibly_damaging(0.63) deleterious(0.01) deleterious(0.626) NULL RAI1 10743 genome.wustl.edu 37 17 17701780 17701780 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_030665.3 +1 reviewed p.G1840R 1.000 17 0% 12 33.3% 32 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATAD5 79915 genome.wustl.edu 37 17 29162238 29162238 + Missense_Mutation SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_024857.3 +1 provisional p.L380S 1.000 151 0% 176 35.8% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MLLT6 4302 genome.wustl.edu 37 17 36868241 36868241 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005937.3 +1 validated p.T232A 0.951 188 0% 138 36.2% 15 66.6% benign(0) tolerated(0.36) neutral(0.020) NULL PIP4K2B 8396 genome.wustl.edu 37 17 36936819 36936819 + Missense_Mutation SNP G G C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_003559.4 -1 reviewed p.S131R 1.000 82 0% 72 27.8% 23 39.1% possibly_damaging(0.536) deleterious(0.01) deleterious(0.587) HMMPfam_PIP5K,HMMSmart_SM00330,superfamily_SAICAR synthase-like CASC3 22794 genome.wustl.edu 37 17 38318989 38318989 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_007359.4 +1 reviewed p.R207H 0.999 163 0.6% 132 31.1% 37 59.4% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_Btz LRRC46 90506 genome.wustl.edu 37 17 45914406 45914406 + Nonsense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_033413.3 +1 validated p.R296* 0.000 37 0% 23 39.1% 2 0% - - - NULL SNF8 11267 genome.wustl.edu 37 17 47018301 47018301 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_007241.2 -1 provisional p.V77M 1.000 113 0% 90 36.7% 162 48.7% probably_damaging(0.987) deleterious(0) deleterious(0.881) "HMMPfam_EAP30,superfamily_""Winged helix"" DNA-binding domain" B4GALNT2 124872 genome.wustl.edu 37 17 47246168 47246168 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_153446.2 +1 validated p.V467 1.000 137 0% 109 31.2% 0 - - - - NULL SCPEP1 59342 genome.wustl.edu 37 17 55075782 55075782 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_021626.2 +1 validated p.R306Q 0.000 363 0% 307 34.5% 225 45.3% benign(0.005) tolerated(0.71) neutral(0.002) HMMPfam_Peptidase_S10,superfamily_alpha/beta-Hydrolases DDX42 11325 genome.wustl.edu 37 17 61895427 61895427 + Missense_Mutation SNP G G T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_007372.2 +1 reviewed p.S829I 0.997 42 0% 43 46.5% 76 39.4% benign(0.016) deleterious(0) neutral(0.445) NULL FTSJ3 117246 genome.wustl.edu 37 17 61902010 61902010 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_017647.3 -1 reviewed p.R302C 1.000 204 0% 144 29.2% 46 56.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SCN4A 6329 genome.wustl.edu 37 17 62049520 62049520 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_000334.4 -1 reviewed p.P153L 1.000 202 0% 152 33.6% 0 - possibly_damaging(0.671) tolerated(0.47) neutral(0.249) superfamily_Voltage-gated potassium channels LOC100289681 100289681 genome.wustl.edu 37 17 73269607 73269607 + Missense_Mutation SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 XM_002343582.1 +1 model p.C272R 0.000 82 0% 52 13.5% 13 7.6% - - - NULL LOC100287075 100287075 genome.wustl.edu 37 17 73488749 73488749 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 XM_002343544.1 -1 model p.A46T 0.004 86 0% 76 43.4% 39 43.5% - - - NULL CYTH1 9267 genome.wustl.edu 37 17 76705746 76705746 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_004762.2 -1 reviewed p.L31 1.000 333 0% 234 35% 10 60% - - - NULL CCDC40 55036 genome.wustl.edu 37 17 78032382 78032382 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_017950.2 +1 validated p.V417M 0.005 159 0% 117 37.6% 7 42.8% probably_damaging(0.992) tolerated(0.06) deleterious(0.770) NULL METTL4 64863 genome.wustl.edu 37 18 2554824 2554824 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_022840.3 -1 validated p.D225Y 0.022 141 0% 158 36.1% 10 30% benign(0.427) deleterious(0) deleterious(0.584) NULL SMAD7 4092 genome.wustl.edu 37 18 46448210 46448210 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005904.2 -1 provisional p.T271 0.624 63 0% 83 26.5% 10 20% - - - HMMPfam_MH2,HMMSmart_DWB,superfamily_SMAD_FHA CXXC1 30827 genome.wustl.edu 37 18 47809306 47809306 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001101654.1 -1 validated p.R585H 1.000 172 0% 99 37.4% 69 46.3% possibly_damaging(0.847) deleterious(0.03) deleterious(0.690) NULL CXXC1 30827 genome.wustl.edu 37 18 47812965 47812965 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001101654.1 -1 validated p.R56Q 1.000 125 0.8% 64 17.2% 27 14.8% benign(0.097) tolerated(0.13) neutral(0.260) HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD DCC 1630 genome.wustl.edu 37 18 49867231 49867231 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005215.3 +1 reviewed p.A25V 1.000 400 0% 279 37.3% 0 - benign(0) tolerated(0.15) neutral(0.241) NULL POLI 11201 genome.wustl.edu 37 18 51818215 51818215 + Missense_Mutation SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_007195.2 +1 validated p.V404A 0.999 214 0% 237 39.7% 9 44.4% benign(0.003) tolerated(1) - HMMPfam_IMS,superfamily_Lesion bypass DNA polymerase (Y-family) little finger domain BSG 682 genome.wustl.edu 37 19 579571 579571 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001728.2 +1 reviewed p.A163T 0.000 35 0% 23 34.8% 680 44.5% benign(0) tolerated(0.5) neutral(0.010) superfamily_Immunoglobulin ARID3A 1820 genome.wustl.edu 37 19 971952 971952 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005224.2 +1 reviewed p.S557G 0.000 56 0% 25 32% 8 50% unknown(0) deleterious(0.01) - NULL GAMT 2593 genome.wustl.edu 37 19 1399019 1399019 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_138924.1 -1 reviewed p.A156T 1.000 63 0% 55 32.7% 109 41.2% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) superfamily_SSF53335 BTBD2 55643 genome.wustl.edu 37 19 1997427 1997427 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_017797.3 -1 reviewed p.A148V 1.000 133 0% 67 31.3% 125 48% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB PEX11G 92960 genome.wustl.edu 37 19 7550765 7550765 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_080662.2 -1 provisional p.A70S 0.993 125 0% 115 40.9% 13 38.4% benign(0.021) tolerated(0.72) neutral(0.003) HMMPfam_PEX11 ELAVL1 1994 genome.wustl.edu 37 19 8028622 8028622 + Silent SNP G G A rs182490610 by1000genomes TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001419.2 -1 reviewed p.S242 0.058 68 0% 45 33.3% 219 49.7% - - - superfamily_RNA-binding domain RBD FBN3 84467 genome.wustl.edu 37 19 8201091 8201091 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_032447.3 -1 reviewed p.T483I 0.944 35 0% 25 36% 0 - possibly_damaging(0.501) tolerated(0.12) neutral(0.428) HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin OR7G3 390883 genome.wustl.edu 37 19 9237482 9237482 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001001958.1 -1 provisional p.V49I 0.000 154 0% 155 18.1% 0 - benign(0.006) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 COL5A3 50509 genome.wustl.edu 37 19 10091344 10091344 + Missense_Mutation SNP G G T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_015719.3 -1 reviewed p.P862T 0.908 124 0% 99 42.4% 1 0% unknown(0) tolerated(0.14) - NULL SAMD1 90378 genome.wustl.edu 37 19 14200007 14200007 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_138352.1 -1 provisional p.K268N 0.995 146 0% 93 29% 123 45.5% possibly_damaging(0.952) deleterious(0) deleterious(0.840) NULL NWD1 284434 genome.wustl.edu 37 19 16918475 16918475 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001007525.2 +1 validated p.T1137M 0.017 84 0% 51 35.3% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMSmart_SM00320,superfamily_WD40 repeat-like CILP2 148113 genome.wustl.edu 37 19 19655007 19655008 + Frame_Shift_Ins INS - - A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_153221.2 +1 validated p.A552fs 1.000:1.000 - - - - - - - - - NULL ENSG00000231205 0 genome.wustl.edu 37 19 20607748 20607748 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000502675 -1 known p.A2T 0.002 29 0% 37 37.8% 0 - - - - NULL LRP3 4037 genome.wustl.edu 37 19 33696398 33696398 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_002333.3 +1 validated p.G241D 0.509 5 0.000 7 0.571 3 33.3% probably_damaging(0.998) tolerated(0.53) deleterious(0.482) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich UBA2 10054 genome.wustl.edu 37 19 34941218 34941218 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005499.2 +1 validated p.R274W 1.000 386 0% 395 32.9% 53 30.1% probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_MoeB MLL4 9757 genome.wustl.edu 37 19 36221622 36221622 + Missense_Mutation SNP A A C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_014727.1 +1 reviewed p.Y1764S 1.000 91 1.1% 59 32.2% 10 60% possibly_damaging(0.85) - - HMMPfam_FYRN,HMMSmart_SM00541 ZNF569 148266 genome.wustl.edu 37 19 37904882 37904882 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_152484.2 -1 validated p.K226N 0.000 143 0% 217 35% 3 33.3% benign(0.421) tolerated(0.34) neutral(0.160) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SPTBN4 57731 genome.wustl.edu 37 19 41060512 41060512 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_020971.2 +1 reviewed p.R1682C 1.000 13 0% 13 53.8% 0 - probably_damaging(0.988) deleterious(0.02) deleterious(0.821) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat PHLDB3 653583 genome.wustl.edu 37 19 43999420 43999420 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_198850.3 -1 validated p.P341 0.977 138 0% 93 51.6% 14 50% - - - NULL SIX5 147912 genome.wustl.edu 37 19 46268923 46268923 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_175875.4 -1 reviewed p.G686R 0.954 30 0% 34 14.7% 23 17.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SLC8A2 6543 genome.wustl.edu 37 19 47935695 47935695 + Missense_Mutation SNP C C G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_015063.2 -1 validated p.E706D 0.999 35 0% 28 28.6% 0 - benign(0) tolerated(0.96) - NULL PLEKHA4 57664 genome.wustl.edu 37 19 49364674 49364674 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_020904.2 -1 validated p.R117Q 1.000 77 0% 49 44.9% 73 39.7% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ZNF614 80110 genome.wustl.edu 37 19 52519708 52519708 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_025040.3 -1 validated p.T381 0.000 343 0% 392 37.2% 6 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF480 147657 genome.wustl.edu 37 19 52825750 52825750 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_144684.2 +1 validated p.R416Q 0.000 176 0% 228 42.5% 5 0% benign(0.096) tolerated(1) neutral(0.007) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DUXA 503835 genome.wustl.edu 37 19 57672141 57672141 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001012729.1 -1 validated p.R17H 0.035 679 0% 650 35.2% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like ZNF324B 388569 genome.wustl.edu 37 19 58967574 58967574 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_207395.2 +1 validated p.G421 0.697 11 0% 10 40% 4 25% - - - superfamily_C2H2 and C2HC zinc fingers TRIB3 57761 genome.wustl.edu 37 20 368740 368740 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_021158.3 +1 reviewed p.R29H 0.000 76 0% 44 36.4% 5 60% benign(0) tolerated(0.13) neutral(0.253) NULL ProSAPiP1 9762 genome.wustl.edu 37 20 3145118 3145118 + Silent SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_014731.2 -1 validated p.I668 0.983 38 0% 34 29.4% 5 0% - - - NULL KIF16B 55614 genome.wustl.edu 37 20 16360305 16360305 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_024704.3 -1 validated p.R781H 0.001 316 0% 260 38.1% 1 0% benign(0.046) tolerated(0.12) neutral(0.263) NULL C20orf4 25980 genome.wustl.edu 37 20 34843652 34843652 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_015511.3 +1 predicted p.G380 0.002 153 0% 94 39.4% 47 48.9% - - - NULL ZMYND8 23613 genome.wustl.edu 37 20 45867607 45867607 + Missense_Mutation SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000471951 -1 known p.M855V 1.000 13 0% 10 50% 15 46.6% benign(0.087) tolerated(0.77) neutral(0.007) NULL ARFGEF2 10564 genome.wustl.edu 37 20 47570123 47570123 + Missense_Mutation SNP A A C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_006420.2 +1 reviewed p.I212L 0.511 304 0% 260 31.2% 5 20% benign(0) tolerated(0.55) neutral(0.007) superfamily_ARM-type_fold ATP9A 10079 genome.wustl.edu 37 20 50273595 50273595 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_006045.1 -1 validated p.I463T 1.000 108 0.9% 80 32.5% 19 31.5% possibly_damaging(0.809) deleterious(0) deleterious(0.749) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N CTCFL 140690 genome.wustl.edu 37 20 56099179 56099179 + Missense_Mutation SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_080618.2 -1 reviewed p.K28R 0.000 293 0% 294 36.1% 0 - benign(0.133) tolerated(0.19) neutral(0.060) NULL LAMA5 3911 genome.wustl.edu 37 20 60893990 60893990 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005560.3 -1 reviewed p.A2317 0.578 9 0.000 5 0.800 45 51.1% - - - HMMPfam_Laminin_I RPS21 6227 genome.wustl.edu 37 20 60963412 60963412 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000337102 +1 known p.R77C 0.998 351 0.3% 296 36.8% 2543 44.9% probably_damaging(0.985) tolerated(0.37) neutral(0.451) HMMPfam_Ribosomal_S21e GMEB2 26205 genome.wustl.edu 37 20 62221978 62221978 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_012384.3 -1 reviewed p.P353S 1.000 36 0% 23 39.1% 9 66.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL TPTE 7179 genome.wustl.edu 37 21 10941969 10941969 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_199261.2 -1 validated p.R245H 0.981 676 0.3% 780 13.8% 1 0% probably_damaging(0.97) tolerated(0.07) deleterious(0.732) superfamily_(Phosphotyrosine protein) phosphatases II ADAMTS1 9510 genome.wustl.edu 37 21 28210076 28210076 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_006988.3 -1 reviewed p.C909Y 1.000 264 0% 261 31.8% 13 15.3% possibly_damaging(0.764) deleterious(0.02) deleterious(0.666) HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 DYRK1A 1859 genome.wustl.edu 37 21 38877625 38877626 + Frame_Shift_Ins INS - - T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001396.3 +1 reviewed p.G428fs 1.000:1.000 - - - - - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DYRK1A 1859 genome.wustl.edu 37 21 38877628 38877628 + Nonsense_Mutation SNP G G T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001396.3 +1 reviewed p.G428* 1.000 181 0% 167 34.1% 11 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TRPM2 7226 genome.wustl.edu 37 21 45845625 45845625 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_003307.3 +1 reviewed p.S1237N 0.000 28 0.000 7 0.571 26 57.6% - - - superfamily_Nudix COL6A1 1291 genome.wustl.edu 37 21 47414123 47414123 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001848.2 +1 reviewed p.V460I 0.042 168 0.6% 115 35.7% 41 2.4% unknown(0) tolerated(0.28) - HMMPfam_Collagen YBEY 54059 genome.wustl.edu 37 21 47707039 47707040 + Splice_Site INS - - AAA rs71318058 byCluster;by1000genomes TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_058181.1 +1 validated e1+2 1.000:0.124 - - - - - - - - - - OR11H1 81061 genome.wustl.edu 37 22 16448955 16448955 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001005239.1 -1 provisional p.G284W 0.057 813 0.1% 663 17.3% 0 - probably_damaging(0.97) deleterious(0.02) deleterious(0.795) HMMPfam_7tm_1,superfamily_SSF81321 COMT 1312 genome.wustl.edu 37 22 19951735 19951737 + In_Frame_Del DEL GAA GAA - novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_000754.3 +1 reviewed p.K179in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_Methyltransf_3,superfamily_S-adenosyl-L-methionine-dependent methyltransferases SUSD2 56241 genome.wustl.edu 37 22 24581638 24581638 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_019601.3 +1 validated p.Y360 0.009 14 0.000 8 0.875 2 0% - - - HMMPfam_AMOP,HMMSmart_AMOP EMID1 129080 genome.wustl.edu 37 22 29627634 29627634 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000433143 +1 known p.P76L 0.004 28 0% 14 42.9% 13 38.4% - - - HMMPfam_Collagen FOXRED2 80020 genome.wustl.edu 37 22 36894057 36894057 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001102371.1 -1 validated p.D455N 0.133 120 0% 82 34.1% 23 52.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LGALS2 3957 genome.wustl.edu 37 22 37966633 37966633 + Nonsense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_006498.2 -1 reviewed p.Q67* 0.001 379 0% 220 30.9% 5 60% - - - HMMPfam_Gal-bind_lectin,HMMSmart_SM00276,superfamily_Concanavalin A-like lectins/glucanases CACNA1I 8911 genome.wustl.edu 37 22 40075174 40075174 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_021096.3 +1 reviewed p.S1706 0.997 28 0% 20 50% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels MCHR1 2847 genome.wustl.edu 37 22 41077391 41077391 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005297.3 +1 reviewed p.S243N 1.000 91 0% 76 40.8% 2 0% possibly_damaging(0.952) deleterious(0.01) deleterious(0.801) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like XRCC6 2547 genome.wustl.edu 37 22 42054278 42054278 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001469.3 +1 reviewed p.V482M 1.000 288 0% 258 42.2% 566 46.8% benign(0.09) tolerated(0.07) neutral(0.326) HMMPfam_Ku_C,superfamily_SPOC-like EFCAB6 64800 genome.wustl.edu 37 22 44031067 44031067 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_022785.2 -1 validated p.D671 0.000 302 0% 227 30.4% 0 - - - - superfamily_EF-hand PARVG 64098 genome.wustl.edu 37 22 44583758 44583758 + Nonsense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001137605.1 +1 validated p.Q83* 1.000 189 0% 127 42.5% 3 0% - - - HMMPfam_CH,superfamily_Calponin-homology domain CH-domain PKDREJ 10343 genome.wustl.edu 37 22 46654759 46654759 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_006071.1 -1 reviewed p.Y1487 0.000 333 0% 263 36.5% 0 - - - - NULL ZBED1 9189 genome.wustl.edu 37 X 2408224 2408224 + Silent SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_004729.3 -1 reviewed p.A179 0.249 88 0% 43 51.2% 11 36.3% - - - NULL ZNF645 158506 genome.wustl.edu 37 X 22291568 22291568 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_152577.2 +1 provisional p.R154C 0.000 109 0% 84 36.9% 0 - probably_damaging(0.965) deleterious(0.02) deleterious(0.790) NULL MAGEB4 4115 genome.wustl.edu 37 X 30260944 30260944 + Missense_Mutation SNP A A G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_002367.3 +1 reviewed p.D231G 0.000 232 0% 225 41.3% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_MAGE CASK 8573 genome.wustl.edu 37 X 41448820 41448820 + Missense_Mutation SNP G G T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_003688.3 -1 reviewed p.S394Y 1.000 682 0% 644 34.6% 21 0% possibly_damaging(0.716) deleterious(0.04) deleterious(0.608) HMMSmart_L27,HMMPfam_L27,superfamily_SSF101288 CACNA1F 778 genome.wustl.edu 37 X 49069162 49069162 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_005183.2 -1 reviewed p.R1314C 1.000 182 0% 161 11.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CLCN5 1184 genome.wustl.edu 37 X 49854898 49854898 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001127898.1 +1 reviewed p.R624W 0.670 269 0% 216 36.1% 4 25% probably_damaging(0.981) deleterious(0) deleterious(0.870) superfamily_Clc chloride channel NUDT10 170685 genome.wustl.edu 37 X 51075904 51075904 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 ENST00000356450 +1 known p.R29 0.994 154 0% 85 32.9% 0 - - - - HMMPfam_NUDIX,superfamily_Nudix GPR173 54328 genome.wustl.edu 37 X 53106197 53106197 + Missense_Mutation SNP G G A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_018969.5 +1 reviewed p.A132T 1.000 57 0% 36 33.3% 21 47.6% benign(0.001) tolerated(1) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FGD1 2245 genome.wustl.edu 37 X 54494308 54494308 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_004463.2 -1 reviewed p.V417I 0.971 85 0% 77 42.9% 55 100% probably_damaging(0.997) tolerated(0.15) deleterious(0.707) HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain KIF4A 24137 genome.wustl.edu 37 X 69553510 69553510 + Silent SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_012310.4 +1 reviewed p.A368 1.000 563 0% 550 32% 20 0% - - - NULL ABCB7 22 genome.wustl.edu 37 X 74288927 74288927 + Missense_Mutation SNP T T C novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_004299.3 -1 reviewed p.Q526R 1.000 390 0% 391 37.1% 40 95% possibly_damaging(0.901) tolerated(0.05) deleterious(0.702) HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_ABC_TM_1,superfamily_SSF52540 BRWD3 254065 genome.wustl.edu 37 X 79932480 79932480 + Nonsense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_153252.4 -1 reviewed p.W1679* 1.000 1016 0.1% 689 34.5% 1 0% - - - NULL RBMXL3 139804 genome.wustl.edu 37 X 114427051 114427051 + Missense_Mutation SNP A A T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001145346.1 +1 validated p.D1016V 0.062 27 0% 34 44.1% 0 - possibly_damaging(0.861) deleterious(0) deleterious(0.778) NULL RAP2C 57826 genome.wustl.edu 37 X 131351260 131351260 + Missense_Mutation SNP C C T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_021183.3 -1 provisional p.G13R 1.000 95 0% 73 35.6% 10 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases CXorf40B 541578 genome.wustl.edu 37 X 149100980 149100980 + Missense_Mutation SNP C C G novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001013845.1 -1 validated p.V87L 0.324 682 0% 548 24.8% 36 38.8% benign(0.004) deleterious(0.02) neutral(0.383) NULL RENBP 5973 genome.wustl.edu 37 X 153206986 153206986 + Missense_Mutation SNP G G T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_002910.5 -1 reviewed p.P297H 0.608 103 0% 84 41.7% 4 0% possibly_damaging(0.44) deleterious(0.01) deleterious(0.549) superfamily_Six-hairpin glycosidases,HMMPfam_GlcNAc_2-epim FLNA 2316 genome.wustl.edu 37 X 153581455 153581455 + Missense_Mutation SNP G G T novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001110556.1 -1 reviewed p.A2047D 1.000 114 0% 100 42% 825 39.6% possibly_damaging(0.831) deleterious(0) deleterious(0.760) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNA 2316 genome.wustl.edu 37 X 153581456 153581456 + Missense_Mutation SNP C C A novel TCGA-D1-A0ZS-01A-11D-A122-09 TCGA-D1-A0ZS-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 144acec9-dfd7-4d4e-9f07-d442aacfd02d 38f7415d-db56-400f-821b-39a96e8f24c8 NM_001110556.1 -1 reviewed p.A2047S 1.000 113 0.9% 99 44.4% 827 40.2% probably_damaging(0.986) deleterious(0.01) deleterious(0.840) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin