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 chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error MT-ND2 0 genome.wustl.edu 36 MT 4892 4892 + Missense_Mutation SNP T T C novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 MT 4892 4892 T C SNP MT-ND2 ENST00000361453 human ensembl 54_36p +1 known missense c.422 p.I141T NULL HMMPfam_Oxidored_q1 HMMPfam_Oxidored_q1,HMMPfam_NADH_dehy_S2_C - no_stop_codon:bad_bp_length_for_coding_region DMRT3 58524 genome.wustl.edu 36 9 980675 980675 + Silent SNP C A A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 9 980675 980675 C A SNP DMRT3 NM_021240 human genbank 54_36p +1 validated silent c.1089 p.P363 0.949 NULL superfamily_DM_DNA_bd,HMMPfam_DM,HMMSmart_DM,PatternScan_DM_1,HMMPfam_DMA - no_errors POLN 353497 genome.wustl.edu 36 4 2047001 2047001 + Missense_Mutation SNP C C A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 4 2047001 2047001 C A SNP POLN NM_181808 human genbank 54_36p -1 validated missense c.2431 p.D811Y 0.426 superfamily_DNA/RNA polymerases,HMMPfam_DNA_pol_A,HMMSmart_SM00482 superfamily_Ribonuclease H-like,superfamily_DNA/RNA polymerases,HMMPfam_DNA_pol_A,HMMSmart_SM00482 - no_errors SIGLEC1 6614 genome.wustl.edu 36 20 3631957 3631957 + Missense_Mutation SNP G G C novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 20 3631957 3631957 G C SNP SIGLEC1 NM_023068 human genbank 54_36p -1 reviewed missense c.1115 p.S372C 0.000 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_C2-set_2,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set - no_errors ZZEF1 23140 genome.wustl.edu 36 17 3867772 3867772 + Missense_Mutation SNP G G T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 17 3867772 3867772 G T SNP ZZEF1 NM_015113 human genbank 54_36p -1 validated missense c.7643 p.S2548Y 1.000 NULL superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,superfamily_Galactose-binding domain-like,HMMPfam_APC10,superfamily_Spermadhesin CUB domain,HMMSmart_SM00291,HMMPfam_ZZ,PatternScan_ZF_ZZ_1 - no_errors C11orf42 160298 genome.wustl.edu 36 11 6188160 6188160 + Missense_Mutation SNP G G C novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 11 6188160 6188160 G C SNP C11orf42 NM_173525 human genbank 54_36p +1 predicted missense c.577 p.V193L 0.932 NULL NULL - no_errors SCNN1A 6337 genome.wustl.edu 36 12 6354247 6354247 + Missense_Mutation SNP C C A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 12 6354247 6354247 C A SNP SCNN1A ENST00000360168 human ensembl 54_36p -1 known missense c.141 p.E47D 0.003 NULL HMMPfam_ASC,PatternScan_ASC - no_errors DCHS1 8642 genome.wustl.edu 36 11 6601340 6601340 + Missense_Mutation SNP C C T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 11 6601340 6601340 C T SNP DCHS1 NM_003737 human genbank 54_36p -1 reviewed missense c.8143 p.V2715M 0.996 superfamily_Cadherin,HMMPfam_Cadherin superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1 - no_errors TP53 7157 genome.wustl.edu 36 17 7519128 7519128 + Missense_Mutation SNP C C T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 17 7519128 7519128 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.527 p.C176Y 1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors RUNDC2A 84127 genome.wustl.edu 36 16 12053347 12053347 + Missense_Mutation SNP C C A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 16 12053347 12053347 C A SNP RUNDC2A NM_032167 human genbank 54_36p +1 validated missense c.891 p.D297E 0.996 NULL HMMPfam_RUN,HMMSmart_SM00593 - no_errors FRMPD4 9758 genome.wustl.edu 36 X 12646663 12646663 + Missense_Mutation SNP C C A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 X 12646663 12646663 C A SNP FRMPD4 NM_014728 human genbank 54_36p +1 validated missense c.3797 p.P1266H 0.043 NULL PatternScan_WW_DOMAIN_1,PatternScan_FERM_1,PatternScan_FERM_2,superfamily_PDZ,HMMSmart_PDZ,HMMPfam_PDZ,HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M - no_errors LOC729389 729389 genome.wustl.edu 36 19 12866143 12866143 + RNA SNP G G T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 19 12866143 12866143 G T SNP LOC729389 XR_015945 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene SOX6 55553 genome.wustl.edu 36 11 16024720 16024720 + Missense_Mutation SNP C C A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 11 16024720 16024720 C A SNP SOX6 NM_033326 human genbank 54_36p -1 reviewed missense c.1539 p.E513D 1.000 NULL superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box - no_errors CDH18 1016 genome.wustl.edu 36 5 19519190 19519190 + Missense_Mutation SNP A A T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 5 19519190 19519190 A T SNP CDH18 NM_004934 human genbank 54_36p -1 reviewed missense c.1859 p.L620H 1.000 NULL superfamily_Cadherin,HMMSmart_CA,HMMPfam_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C - no_errors LOC81691 81691 genome.wustl.edu 36 16 20747346 20747346 + Missense_Mutation SNP C C G novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 16 20747346 20747346 C G SNP LOC81691 NM_030941 human genbank 54_36p +1 validated missense c.1144 p.H382D 0.941 superfamily_Ribonuclease H-like,HMMSmart_SM00479 superfamily_Ribonuclease H-like,HMMSmart_SM00479,HMMPfam_Exonuc_X-T,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_RNA-binding domain RBD - no_errors DNAH3 55567 genome.wustl.edu 36 16 20903944 20903944 + Missense_Mutation SNP C C T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 16 20903944 20903944 C T SNP DNAH3 NM_017539 human genbank 54_36p -1 provisional missense c.7621 p.V2541I 0.980 superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_Prefoldin,HMMPfam_Dynein_heavy - no_errors IFNA14 3448 genome.wustl.edu 36 9 21229728 21229728 + Missense_Mutation SNP G G T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 9 21229728 21229728 G T SNP IFNA14 NM_002172 human genbank 54_36p -1 validated missense c.207 p.N69K 0.001 HMMPfam_Interferon,superfamily_4_helix_cytokine,HMMSmart_IFabd HMMPfam_Interferon,superfamily_4_helix_cytokine,HMMSmart_IFabd,PatternScan_INTERFERON_A_B_D - no_errors SUSD2 56241 genome.wustl.edu 36 22 22913177 22913177 + Silent SNP C C T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 22 22913177 22913177 C T SNP SUSD2 NM_019601 human genbank 54_36p +1 validated silent c.1650 p.F550 1.000 HMMSmart_VWD,HMMPfam_VWD HMMSmart_SO,HMMPfam_Somatomedin_B,superfamily_SSF90188,PatternScan_SMB_1,HMMSmart_AMOP,HMMPfam_AMOP,HMMSmart_VWD,HMMPfam_VWD,superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP - no_errors EMILIN1 11117 genome.wustl.edu 36 2 27159021 27159021 + Missense_Mutation SNP C G G novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 2 27159021 27159021 C G SNP EMILIN1 NM_007046 human genbank 54_36p +1 validated missense c.1078 p.R360G 0.515 NULL HMMPfam_EMI,HMMPfam_Collagen,superfamily_TNF_like,HMMPfam_C1q - no_errors PTK2B 2185 genome.wustl.edu 36 8 27311036 27311036 + Missense_Mutation SNP G G T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 8 27311036 27311036 G T SNP PTK2B NM_004103 human genbank 54_36p +1 reviewed missense c.18 p.E6D 0.981 NULL HMMSmart_SM00295,superfamily_Second domain of FERM,HMMPfam_FERM_M,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,HMMPfam_Focal_AT,superfamily_FAT domain of focal adhesion kinase - no_errors SNX17 9784 genome.wustl.edu 36 2 27449623 27449623 + Missense_Mutation SNP C C G novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 2 27449623 27449623 C G SNP SNX17 NM_014748 human genbank 54_36p +1 reviewed missense c.262 p.Q88E 1.000 HMMPfam_PX,HMMSmart_PX,superfamily_PX HMMPfam_PX,HMMSmart_PX,superfamily_PX,HMMPfam_FERM_M - no_errors SETD1A 9739 genome.wustl.edu 36 16 30898853 30898853 + Nonsense_Mutation SNP C C G novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 16 30898853 30898853 C G SNP SETD1A NM_014712 human genbank 54_36p +1 provisional nonsense c.4245 p.Y1415* 0.988 NULL superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1,superfamily_SSF82199,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET - no_errors BIRC6 57448 genome.wustl.edu 36 2 32514146 32514146 + Missense_Mutation SNP A A C novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 2 32514146 32514146 A C SNP BIRC6 NM_016252 human genbank 54_36p +1 reviewed missense c.3488 p.E1163A 1.000 NULL superfamily_Inhibitor of apoptosis (IAP) repeat,HMMSmart_SM00238,HMMPfam_BIR,superfamily_Galactose-binding domain-like,superfamily_UBC-like,HMMSmart_SM00212,HMMPfam_UQ_con - no_errors KIFC1 3833 genome.wustl.edu 36 6 33479855 33479855 + Missense_Mutation SNP G G A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 6 33479855 33479855 G A SNP KIFC1 NM_002263 human genbank 54_36p +1 validated missense c.727 p.G243R 0.608 NULL superfamily_SSF52540,HMMSmart_KISc,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1 - no_errors PCGF2 7703 genome.wustl.edu 36 17 34145226 34145226 + Missense_Mutation SNP C G G novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 17 34145226 34145226 C G SNP PCGF2 NM_007144 human genbank 54_36p -1 reviewed missense c.811 p.A271P 0.101 NULL superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1 - no_errors C6orf1 221491 genome.wustl.edu 36 6 34322568 34322568 + Missense_Mutation SNP A A C novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 6 34322568 34322568 A C SNP C6orf1 NM_001008703 human genbank 54_36p -1 validated missense c.181 p.S61A 0.998 NULL NULL - no_errors KCNH4 23415 genome.wustl.edu 36 17 37586434 37586434 + Missense_Mutation SNP G G T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 17 37586434 37586434 G T SNP KCNH4 NM_012285 human genbank 54_36p -1 reviewed missense c.56 p.A19D 1.000 HMMSmart_PAS PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,HMMSmart_PAS,superfamily_SSF55785,HMMPfam_PAS,HMMSmart_PAC,superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding - no_errors MYRIP 25924 genome.wustl.edu 36 3 40206707 40206707 + Silent SNP C C T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 3 40206707 40206707 C T SNP MYRIP NM_015460 human genbank 54_36p +1 validated silent c.1414 p.L472 0.001 NULL superfamily_FYVE_PHD_ZnF,HMMPfam_MOBP - no_errors MATN4 8785 genome.wustl.edu 36 20 43360031 43360031 + Missense_Mutation SNP G G A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 20 43360031 43360031 G A SNP MATN4 NM_003833 human genbank 54_36p -1 reviewed missense c.1520 p.A507V 0.984 HMMSmart_VWA,superfamily_SSF53300,HMMPfam_VWA superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,HMMPfam_Matrilin_ccoil - no_errors C21orf29 54084 genome.wustl.edu 36 21 44775380 44775380 + Missense_Mutation SNP G G C novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 21 44775380 44775380 G C SNP C21orf29 NM_144991 human genbank 54_36p -1 provisional missense c.607 p.R203G 0.996 HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EPTP - no_errors HCN1 348980 genome.wustl.edu 36 5 45298062 45298062 + Silent SNP C C T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 5 45298062 45298062 C T SNP HCN1 NM_021072 human genbank 54_36p -1 validated silent c.2391 p.V797 0.960 NULL PatternScan_CNMP_BINDING_2,HMMPfam_Ion_trans_N,superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1 - no_errors LOC388401 388401 genome.wustl.edu 36 17 46935519 46935519 + RNA SNP G G A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 17 46935519 46935519 G A SNP LOC388401 XR_016879 human genbank 54_36p -1 model rna NULL NULL 0.987 - - - pseudogene CYP4Z1 199974 genome.wustl.edu 36 1 47356110 47356110 + Missense_Mutation SNP C C A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 1 47356110 47356110 C A SNP CYP4Z1 NM_178134 human genbank 54_36p +1 reviewed missense c.1435 p.H479N 0.014 superfamily_Cytochrome_P450,HMMPfam_p450 superfamily_Cytochrome_P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450 - no_errors CEACAM8 1088 genome.wustl.edu 36 19 47779287 47779287 + Missense_Mutation SNP G G T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 19 47779287 47779287 G T SNP CEACAM8 NM_001816 human genbank 54_36p -1 validated missense c.1001 p.A334D 0.001 NULL HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig - no_errors PORCN 64840 genome.wustl.edu 36 X 48260557 48260557 + Missense_Mutation SNP G G A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 X 48260557 48260557 G A SNP PORCN NM_203475 human genbank 54_36p +1 reviewed missense c.1216 p.A406T 1.000 NULL HMMPfam_MBOAT - no_errors ACVRL1 94 genome.wustl.edu 36 12 50593636 50593636 + Nonsense_Mutation SNP G G T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 12 50593636 50593636 G T SNP ACVRL1 NM_000020 human genbank 54_36p +1 reviewed nonsense c.340 p.G114* 0.000 NULL HMMPfam_Activin_recp,superfamily_SSF57302,HMMPfam_TGF_beta_GS,HMMSmart_GS,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors FRMD6 122786 genome.wustl.edu 36 14 51256706 51256706 + Missense_Mutation SNP C C T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 14 51256706 51256706 C T SNP FRMD6 NM_001042481 human genbank 54_36p +1 validated missense c.1184 p.P395L 0.996 NULL HMMSmart_B41,superfamily_SSF54236,HMMPfam_FERM_N,superfamily_FERM_3-hlx,HMMPfam_FERM_M,superfamily_SSF50729,HMMPfam_FERM_C - no_errors A1CF 29974 genome.wustl.edu 36 10 52243749 52243749 + Silent SNP C C A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 10 52243749 52243749 C A SNP A1CF NM_138932 human genbank 54_36p -1 reviewed silent c.1221 p.L407 1.000 NULL superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_dsRNA-binding domain-like - no_errors MCM3 4172 genome.wustl.edu 36 6 52251607 52251607 + Silent SNP C C T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 6 52251607 52251607 C T SNP MCM3 NM_002388 human genbank 54_36p -1 reviewed silent c.771 p.R257 1.000 superfamily_Nucleic_acid_OB,HMMSmart_MCM superfamily_Nucleic_acid_OB,HMMSmart_MCM,HMMPfam_MCM,superfamily_SSF52540,HMMSmart_AAA,PatternScan_MCM_1 - no_errors TINAG 27283 genome.wustl.edu 36 6 54299658 54299658 + Missense_Mutation SNP C C A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 6 54299658 54299658 C A SNP TINAG NM_014464 human genbank 54_36p +1 validated missense c.609 p.S203R 0.998 superfamily_Cysteine proteinases HMMSmart_SM00201,PatternScan_SMB_1,superfamily_Cysteine proteinases,HMMSmart_SM00645,HMMPfam_Peptidase_C1,PatternScan_THIOL_PROTEASE_ASN - no_errors DHX29 54505 genome.wustl.edu 36 5 54617000 54617000 + Missense_Mutation SNP C C T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 5 54617000 54617000 C T SNP DHX29 NM_019030 human genbank 54_36p -1 validated missense c.1234 p.V412I 1.000 NULL superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,PatternScan_DEAH_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605 - no_errors CPLX4 339302 genome.wustl.edu 36 18 55115032 55115032 + Missense_Mutation SNP C C A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 18 55115032 55115032 C A SNP CPLX4 NM_181654 human genbank 54_36p -1 reviewed missense c.361 p.D121Y 1.000 NULL NULL - no_errors PCK1 5105 genome.wustl.edu 36 20 55572035 55572035 + Silent SNP T T A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 20 55572035 55572035 T A SNP PCK1 NM_002591 human genbank 54_36p +1 reviewed silent c.807 p.G269 0.980 HMMPfam_PEPCK,superfamily_SSF53795 superfamily_PEP_carboxykinase_N,HMMPfam_PEPCK,superfamily_SSF53795,PatternScan_PEPCK_GTP - no_errors GPR182 11318 genome.wustl.edu 36 12 55676008 55676008 + Missense_Mutation SNP C C G novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 12 55676008 55676008 C G SNP GPR182 NM_007264 human genbank 54_36p +1 reviewed missense c.748 p.Q250E 0.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors TMEM194A 23306 genome.wustl.edu 36 12 55758778 55758778 + Silent SNP T T C novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 12 55758778 55758778 T C SNP TMEM194A NM_015257 human genbank 54_36p -1 validated silent c.18 p.K6 1.000 NULL HMMPfam_DUF2215 - no_errors GPR97 222487 genome.wustl.edu 36 16 56269717 56269717 + Silent SNP G G T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 16 56269717 56269717 G T SNP GPR97 NM_170776 human genbank 54_36p +1 provisional silent c.480 p.G160 0.071 NULL PatternScan_G_PROTEIN_RECEP_F2_1,PatternScan_G_PROTEIN_RECEP_F2_2,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2 - no_errors GPBP1 65056 genome.wustl.edu 36 5 56578735 56578735 + Missense_Mutation SNP G G T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 5 56578735 56578735 G T SNP GPBP1 NM_022913 human genbank 54_36p +1 validated missense c.740 p.G247V 1.000 NULL NULL - no_errors LOC100129933 0 genome.wustl.edu 36 11 58417251 58417251 + RNA SNP G G T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 11 58417251 58417251 G T SNP LOC100129933 XR_037279 human genbank 54_36p +1 model rna NULL NULL 0.000 - - - pseudogene BIRC8 112401 genome.wustl.edu 36 19 58485097 58485097 + Missense_Mutation SNP G G C novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 19 58485097 58485097 G C SNP BIRC8 NM_033341 human genbank 54_36p -1 validated missense c.343 p.L115V 0.512 superfamily_Inhibitor of apoptosis (IAP) repeat superfamily_Inhibitor of apoptosis (IAP) repeat,HMMSmart_SM00238,PatternScan_BIR_REPEAT_1,HMMPfam_BIR,HMMSmart_SM00184 - no_errors AXIN2 8313 genome.wustl.edu 36 17 60984923 60984923 + Missense_Mutation SNP T A A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 17 60984923 60984923 T A SNP AXIN2 NM_004655 human genbank 54_36p -1 reviewed missense c.278 p.Y93F 1.000 superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315 superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315,HMMPfam_Axin_b-cat_bind,HMMPfam_DIX,HMMSmart_SM00021 - no_errors FLRT1 23769 genome.wustl.edu 36 11 63641996 63641996 + Missense_Mutation SNP G G C novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 11 63641996 63641996 G C SNP FLRT1 NM_013280 human genbank 54_36p +1 reviewed missense c.1681 p.V561L 0.951 NULL superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00364,HMMSmart_SM00082,HMMPfam_fn3 - no_errors LOC388955 0 genome.wustl.edu 36 2 63703478 63703478 + RNA SNP C C A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 2 63703478 63703478 C A SNP LOC388955 NR_003131 human genbank 54_36p -1 provisional rna NULL NULL 0.072 - - - pseudogene COG8 84342 genome.wustl.edu 36 16 67924259 67924259 + Missense_Mutation SNP G G A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 16 67924259 67924259 G A SNP COG8 NM_032382 human genbank 54_36p -1 reviewed missense c.1441 p.R481C 1.000 NULL HMMPfam_Dor1 - no_errors CBWD6 644019 genome.wustl.edu 36 9 68495277 68495277 + Missense_Mutation SNP C C G novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 9 68495277 68495277 C G SNP CBWD6 NM_001085457 human genbank 54_36p -1 provisional missense c.1081 p.G361R 1.000 HMMPfam_CobW_C,superfamily_Cbl_biosynth_CobW-like_C superfamily_SSF52540,HMMPfam_cobW,HMMPfam_CobW_C,superfamily_Cbl_biosynth_CobW-like_C - no_errors PTPRR 5801 genome.wustl.edu 36 12 69364297 69364297 + Missense_Mutation SNP C C G novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 12 69364297 69364297 C G SNP PTPRR NM_002849 human genbank 54_36p -1 reviewed missense c.1374 p.K458N 0.990 superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors HYDIN 54768 genome.wustl.edu 36 16 69653572 69653572 + Splice_Site SNP C C T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 16 69653572 69653572 C T SNP HYDIN NM_032821 human genbank 54_36p -1 validated splice_site c.2376+1 e16+1 1.000 - - - no_errors ZMYM3 9203 genome.wustl.edu 36 X 70389554 70389554 + Missense_Mutation SNP G C C novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 X 70389554 70389554 G C SNP ZMYM3 NM_005096 human genbank 54_36p -1 validated missense c.277 p.P93A 1.000 NULL HMMPfam_zf-FCS,HMMSmart_SM00746 - no_errors ERCC6L 54821 genome.wustl.edu 36 X 71344458 71344458 + Missense_Mutation SNP G C C novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 X 71344458 71344458 G C SNP ERCC6L NM_017669 human genbank 54_36p -1 validated missense c.884 p.T295S 1.000 HMMPfam_SNF2_N superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C - no_errors DCTN1 1639 genome.wustl.edu 36 2 74449499 74449499 + Missense_Mutation SNP A A G novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 2 74449499 74449499 A G SNP DCTN1 NM_004082 human genbank 54_36p -1 reviewed missense c.1718 p.L573S 1.000 NULL superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1,superfamily_Spectrin repeat - no_errors ARHGAP24 83478 genome.wustl.edu 36 4 87134791 87134791 + Silent SNP G G A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 4 87134791 87134791 G A SNP ARHGAP24 NM_001025616 human genbank 54_36p +1 validated silent c.960 p.V320 0.984 superfamily_GTPase activation domain GAP,HMMSmart_SM00324 superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP - no_errors GAS8 2622 genome.wustl.edu 36 16 88637167 88637167 + Silent SNP C T T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 16 88637167 88637167 C T SNP GAS8 NM_001481 human genbank 54_36p +1 reviewed silent c.1350 p.D450 1.000 NULL NULL - no_errors FAM13A 10144 genome.wustl.edu 36 4 89928087 89928087 + Nonsense_Mutation SNP G G A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 4 89928087 89928087 G A SNP FAM13A NM_014883 human genbank 54_36p -1 validated nonsense c.1111 p.R371* 0.987 NULL superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP - no_errors LOC100132553 0 genome.wustl.edu 36 8 92239484 92239484 + RNA SNP C C A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 8 92239484 92239484 C A SNP LOC100132553 XR_038881 human genbank 54_36p +1 model rna NULL NULL 0.988 - - - pseudogene KIAA1429 25962 genome.wustl.edu 36 8 95608486 95608486 + Missense_Mutation SNP G G C novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 8 95608486 95608486 G C SNP KIAA1429 NM_015496 human genbank 54_36p -1 validated missense c.1162 p.L388V 1.000 NULL NULL - no_errors MGC72080 389538 genome.wustl.edu 36 7 97439557 97439557 + RNA SNP C C A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 7 97439557 97439557 C A SNP MGC72080 NR_002822 human genbank 54_36p -1 provisional rna NULL NULL 0.001 - - - pseudogene PCCA 5095 genome.wustl.edu 36 13 99713019 99713019 + Missense_Mutation SNP C C G novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 13 99713019 99713019 C G SNP PCCA NM_000282 human genbank 54_36p +1 reviewed missense c.752 p.S251C 1.000 HMMPfam_CPSase_L_D2,superfamily_SSF56059 HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp-like,HMMPfam_CPSase_L_D2,superfamily_SSF56059,PatternScan_CPSASE_1,PatternScan_CPSASE_2,superfamily_Rudmnt_hyb_motif,HMMPfam_Biotin_carb_C,superfamily_Hybrid_motif,HMMPfam_Biotin_lipoyl,PatternScan_BIOTIN - no_errors MLL5 55904 genome.wustl.edu 36 7 104535078 104535078 + Missense_Mutation SNP G G C novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 7 104535078 104535078 G C SNP MLL5 NM_018682 human genbank 54_36p +1 reviewed missense c.2938 p.G980R 1.000 NULL superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain - no_errors RTN4IP1 84816 genome.wustl.edu 36 6 107126643 107126643 + Missense_Mutation SNP G G C novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 6 107126643 107126643 G C SNP RTN4IP1 NM_032730 human genbank 54_36p -1 reviewed missense c.1112 p.P371R 0.998 NULL superfamily_GroES-like,HMMPfam_ADH_N,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_ADH_zinc_N,PatternScan_QOR_ZETA_CRYSTAL - no_errors FOXO3 2309 genome.wustl.edu 36 6 108989306 108989306 + Missense_Mutation SNP G T T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 6 108989306 108989306 G T SNP FOXO3 NM_001455 human genbank 54_36p +1 reviewed missense c.202 p.D68Y 0.995 NULL PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,superfamily_SSF46785,HMMSmart_FH,PatternScan_FORK_HEAD_2 - no_errors UBASH3B 84959 genome.wustl.edu 36 11 122177193 122177193 + Missense_Mutation SNP C C A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 11 122177193 122177193 C A SNP UBASH3B NM_032873 human genbank 54_36p +1 validated missense c.1538 p.A513E 1.000 superfamily_SSF53254,HMMPfam_PGAM superfamily_UBA_like,HMMPfam_UBA,HMMSmart_UBA,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SSF53254,HMMPfam_PGAM - no_errors LOC100128516 0 genome.wustl.edu 36 11 122336901 122336901 + RNA SNP T T C novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 11 122336901 122336901 T C SNP LOC100128516 XR_039709 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene OR8A1 390275 genome.wustl.edu 36 11 123946080 123946080 + Missense_Mutation SNP T T A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 11 123946080 123946080 T A SNP OR8A1 NM_001005194 human genbank 54_36p +1 provisional missense c.906 p.N302K 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ALDH1L1 10840 genome.wustl.edu 36 3 127360159 127360159 + Silent SNP C C T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 3 127360159 127360159 C T SNP ALDH1L1 NM_012190 human genbank 54_36p -1 reviewed silent c.141 p.E47 1.000 HMMPfam_Formyl_trans_N,superfamily_formyl_transf PatternScan_PHOSPHOPANTETHEINE,HMMPfam_Formyl_trans_N,superfamily_formyl_transf,PatternScan_GART,superfamily_FMT_C_like,HMMPfam_Formyl_trans_C,superfamily_ACP_like,superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_GLU,PatternScan_ALDEHYDE_DEHYDR_CYS - no_errors FAM84B 157638 genome.wustl.edu 36 8 127638227 127638227 + Missense_Mutation SNP C C G novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 8 127638227 127638227 C G SNP FAM84B NM_174911 human genbank 54_36p -1 provisional missense c.590 p.S197T 1.000 NULL NULL - no_errors MCM6 4175 genome.wustl.edu 36 2 136333411 136333411 + Missense_Mutation SNP G G A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 2 136333411 136333411 G A SNP MCM6 NM_005915 human genbank 54_36p -1 reviewed missense c.1292 p.A431V 1.000 HMMSmart_SM00350,HMMPfam_MCM,superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_Nucleic acid-binding proteins,HMMSmart_SM00350,HMMPfam_MCM,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_MCM_1 - no_errors DGKI 9162 genome.wustl.edu 36 7 136779369 136779369 + Missense_Mutation SNP C C T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 7 136779369 136779369 C T SNP DGKI NM_004717 human genbank 54_36p -1 reviewed missense c.2779 p.D927N 1.000 superfamily_ANK PatternScan_ZF_DAG_PE_1,HMMSmart_C1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_DAGKc,HMMPfam_DAGK_acc,HMMSmart_DAGKa,superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK - no_errors LYSMD1 388695 genome.wustl.edu 36 1 149400976 149400976 + Silent SNP A A T novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 1 149400976 149400976 A T SNP LYSMD1 NM_212551 human genbank 54_36p -1 validated silent c.405 p.G135 0.000 NULL superfamily_SSF54106,HMMSmart_LysM,HMMPfam_LysM - no_errors NOS3 4846 genome.wustl.edu 36 7 150323244 150323244 + Missense_Mutation SNP C C A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 7 150323244 150323244 C A SNP NOS3 NM_000603 human genbank 54_36p +1 validated missense c.179 p.T60N 0.079 NULL superfamily_Nitric oxide (NO) synthase oxygenase domain,HMMPfam_NO_synthase,PatternScan_NOS,superfamily_Flavoproteins,HMMPfam_Flavodoxin_1,superfamily_Riboflavin synthase domain-like,HMMPfam_FAD_binding_1,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain,HMMPfam_NAD_binding_1 - no_errors KPRP 448834 genome.wustl.edu 36 1 150998779 150998779 + Missense_Mutation SNP G G A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 1 150998779 150998779 G A SNP KPRP NM_001025231 human genbank 54_36p +1 provisional missense c.91 p.A31T 0.013 NULL NULL - no_errors SLAMF6 114836 genome.wustl.edu 36 1 158727560 158727560 + Missense_Mutation SNP A A G novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 1 158727560 158727560 A G SNP SLAMF6 NM_052931 human genbank 54_36p -1 reviewed missense c.625 p.S209P 0.011 superfamily_Immunoglobulin HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409 - no_errors uc001gpg.2 0 genome.wustl.edu 36 1 180710002 180710002 + Missense_Mutation SNP C C A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 1 180710002 180710002 C A SNP uc001gpg.2 ENST00000367561 human ensembl 54_36p +1 known missense c.1238 p.A413D 0.002 NULL NULL - no_errors LAMC1 3915 genome.wustl.edu 36 1 181376193 181376193 + Missense_Mutation SNP A A G novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 1 181376193 181376193 A G SNP LAMC1 NM_002293 human genbank 54_36p +1 reviewed missense c.4505 p.N1502S 1.000 NULL HMMSmart_LamNT,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,superfamily_Grow_fac_recept,HMMSmart_LamB,HMMPfam_Laminin_B,PatternScan_EGF_2 - no_errors COL3A1 1281 genome.wustl.edu 36 2 189574561 189574561 + Splice_Site SNP G G A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 2 189574561 189574561 G A SNP COL3A1 NM_000090 human genbank 54_36p +1 reviewed splice_site c.2391+1 e34+1 1.000 - - - no_errors CLK1 1195 genome.wustl.edu 36 2 201432668 201432668 + Silent SNP C C G novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 2 201432668 201432668 C G SNP CLK1 NM_004071 human genbank 54_36p -1 reviewed silent c.528 p.V176 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors ORC2L 4999 genome.wustl.edu 36 2 201498901 201498901 + Splice_Site SNP C C A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 2 201498901 201498901 C A SNP ORC2L NM_006190 human genbank 54_36p -1 reviewed splice_site c.1051-1 e11-1 1.000 - - - no_errors KCNH1 3756 genome.wustl.edu 36 1 209322822 209322822 + Missense_Mutation SNP T T A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 1 209322822 209322822 T A SNP KCNH1 NM_172362 human genbank 54_36p -1 reviewed missense c.481 p.S161C 1.000 NULL superfamily_PYP-like sensor domain (PAS domain),HMMSmart_SM00086,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding - no_errors B3GALNT2 148789 genome.wustl.edu 36 1 233680214 233680214 + Missense_Mutation SNP G A A novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 1 233680214 233680214 G A SNP B3GALNT2 NM_152490 human genbank 54_36p -1 provisional missense c.1433 p.P478L 0.962 NULL HMMPfam_Galactosyl_T - no_errors AQP12B 285192 genome.wustl.edu 36 2 241270921 241270921 + Missense_Mutation SNP C C G novel unknown TCGA-42-2589-01A-01D-1526-09 TCGA-42-2589-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b6d00ccc-315f-466f-af5b-0b2de560281d 7fd91650-78df-4d3f-b9a4-62e921b476a9 2 241270921 241270921 C G SNP AQP12B NM_001102467 human genbank 54_36p -1 validated missense c.7 p.G3R 0.561 NULL superfamily_MIP - no_errors