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 4685 4685 + Missense_Mutation SNP T T C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 MT 4685 4685 T C SNP MT-ND2 ENST00000361453 human ensembl 54_36p +1 known missense c.215 p.M72T NULL HMMPfam_Oxidored_q1 HMMPfam_Oxidored_q1,HMMPfam_NADH_dehy_S2_C - no_stop_codon:bad_bp_length_for_coding_region MT-ND4 4538 genome.wustl.edu 36 MT 10536 10536 + Silent SNP T T C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 MT 10536 10536 T C SNP MT-ND4 ENST00000361335 human ensembl 54_36p +1 known silent c.66 p.Y22 NULL HMMPfam_Oxidored_q2 HMMPfam_Oxidored_q2 - no_errors MT-ND4 4538 genome.wustl.edu 36 MT 11221 11221 + Missense_Mutation SNP T C C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 MT 11221 11221 T C SNP MT-ND4 ENST00000361381 human ensembl 54_36p +1 known missense c.461 p.L154P NULL HMMPfam_Oxidored_q1 HMMPfam_Oxidored_q5_N,HMMPfam_Oxidored_q1 - no_stop_codon:bad_bp_length_for_coding_region LOC729034 729034 genome.wustl.edu 36 17 177415 177415 + Missense_Mutation SNP G G C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 17 177415 177415 G C SNP LOC729034 XM_001129120 human genbank 54_36p +1 model missense c.1383 p.W461C 0.002 NULL NULL - no_start_codon:pseudogene:no_stop_codon LOC441806 441806 genome.wustl.edu 36 18 846618 846618 + RNA SNP A A G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 18 846618 846618 A G SNP LOC441806 XR_016826 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - no_errors ENSG00000209536 0 genome.wustl.edu 36 18 2764904 2764904 + RNA SNP G G C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 18 2764904 2764904 G C SNP ENSG00000209536 ENST00000386801 human ensembl 54_36p +1 novel rna NULL NULL 0.000 - - - pseudogene TPRG1L 127262 genome.wustl.edu 36 1 3534917 3534917 + Silent SNP C C T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 1 3534917 3534917 C T SNP TPRG1L NM_182752 human genbank 54_36p +1 validated silent c.709 p.L237 1.000 NULL PatternScan_LIPOCALIN - no_errors SPNS3 201305 genome.wustl.edu 36 17 4303217 4303217 + Missense_Mutation SNP G G T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 17 4303217 4303217 G T SNP SPNS3 NM_182538 human genbank 54_36p +1 validated missense c.1081 p.V361F 0.019 superfamily_MFS general substrate transporter,HMMPfam_MFS_1 superfamily_MFS general substrate transporter,HMMPfam_MFS_1 - no_errors DHX33 56919 genome.wustl.edu 36 17 5297883 5297883 + Missense_Mutation SNP G G T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 17 5297883 5297883 G T SNP DHX33 NM_020162 human genbank 54_36p -1 reviewed missense c.1289 p.T430N 0.999 superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605 - no_errors LAG3 3902 genome.wustl.edu 36 12 6754260 6754260 + Silent SNP C C T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 12 6754260 6754260 C T SNP LAG3 NM_002286 human genbank 54_36p +1 reviewed silent c.750 p.N250 0.980 superfamily_SSF48726,HMMSmart_IG HMMSmart_IG,superfamily_SSF48726,HMMPfam_ig,HMMPfam_V-set - no_errors LOC100128519 0 genome.wustl.edu 36 4 9164612 9164612 + RNA SNP G G C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 4 9164612 9164612 G C SNP LOC100128519 XR_038473 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene SWAP70 23075 genome.wustl.edu 36 11 9691629 9691629 + Missense_Mutation SNP G G T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 11 9691629 9691629 G T SNP SWAP70 NM_015055 human genbank 54_36p +1 validated missense c.281 p.C94F 1.000 superfamily_SSF47473 superfamily_SSF47473,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH - no_errors MYH2 4620 genome.wustl.edu 36 17 10373409 10373409 + Nonsense_Mutation SNP C C A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 17 10373409 10373409 C A SNP MYH2 NM_001100112 human genbank 54_36p -1 validated nonsense c.3232 p.E1078* 1.000 HMMPfam_Myosin_tail_1 HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1 - no_errors CARM1 10498 genome.wustl.edu 36 19 10891602 10891602 + Missense_Mutation SNP G G A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 19 10891602 10891602 G A SNP CARM1 NM_199141 human genbank 54_36p +1 validated missense c.1156 p.G386S 1.000 superfamily_SSF53335 superfamily_SSF53335,HMMPfam_PrmA - no_errors ROCK2 9475 genome.wustl.edu 36 2 11272518 11272518 + Missense_Mutation SNP G G A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 2 11272518 11272518 G A SNP ROCK2 NM_004850 human genbank 54_36p -1 reviewed missense c.1835 p.A612V 1.000 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133,HMMPfam_Pkinase_C,HMMPfam_HR1,HMMPfam_Rho_Binding,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Cysteine-rich domain,HMMPfam_C1_1,HMMSmart_SM00109 - no_errors TRIO 7204 genome.wustl.edu 36 5 14411356 14411356 + Missense_Mutation SNP G G T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 5 14411356 14411356 G T SNP TRIO NM_007118 human genbank 54_36p +1 validated missense c.2116 p.V706L 1.000 superfamily_Spectrin repeat,HMMSmart_SM00150 superfamily_CRAL/TRIO domain,HMMSmart_SM00516,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST - no_errors ZNF333 84449 genome.wustl.edu 36 19 14667465 14667465 + Missense_Mutation SNP C C G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 19 14667465 14667465 C G SNP ZNF333 NM_032433 human genbank 54_36p +1 validated missense c.215 p.T72R 0.001 NULL superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors NBAS 51594 genome.wustl.edu 36 2 15385823 15385823 + Missense_Mutation SNP C C T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 2 15385823 15385823 C T SNP NBAS NM_015909 human genbank 54_36p -1 validated missense c.4412 p.G1471E 1.000 NULL superfamily_WD40 repeat-like,HMMPfam_Sec39,PatternScan_RIBOSOMAL_S14 - no_errors CCT8L2 150160 genome.wustl.edu 36 22 15453310 15453310 + Missense_Mutation SNP G G T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 22 15453310 15453310 G T SNP CCT8L2 NM_014406 human genbank 54_36p -1 validated missense c.131 p.A44D 0.068 superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1 superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,superfamily_GroEL-intermediate domain like,superfamily_GroEL apical domain-like - no_errors IL17RA 23765 genome.wustl.edu 36 22 15962934 15962934 + Splice_Site SNP G G A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 22 15962934 15962934 G A SNP IL17RA NM_014339 human genbank 54_36p +1 reviewed splice_site c.598+1 e6+1 1.000 - - - no_errors PIK3C2G 5288 genome.wustl.edu 36 12 18390959 18390959 + Missense_Mutation SNP A A T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 12 18390959 18390959 A T SNP PIK3C2G ENST00000266497 human ensembl 54_36p +1 known missense c.1547 p.Y516F 0.000 HMMPfam_PI3K_C2 superfamily_Ubiquitin-like,HMMPfam_PI3K_rbd,HMMPfam_PI3K_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_ARM repeat,HMMSmart_SM00145,HMMPfam_PI3Ka,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,HMMSmart_SM00239,HMMPfam_C2 - no_errors SFRS14 10147 genome.wustl.edu 36 19 18996921 18996921 + Silent SNP C C A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 19 18996921 18996921 C A SNP SFRS14 NM_001017392 human genbank 54_36p -1 reviewed silent c.1236 p.V412 1.000 NULL superfamily_Surp module (SWAP domain Pfam 01805),HMMSmart_SM00648,HMMPfam_Surp,HMMSmart_SM00443,HMMPfam_G-patch - no_errors ARL5B 221079 genome.wustl.edu 36 10 18997589 18997589 + Missense_Mutation SNP A A G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 10 18997589 18997589 A G SNP ARL5B NM_178815 human genbank 54_36p +1 validated missense c.232 p.N78D 1.000 HMMSmart_SM00178,HMMPfam_Arf,HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00178,HMMPfam_Arf,HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_ARF - no_errors GP2 2813 genome.wustl.edu 36 16 20234818 20234818 + Silent SNP G G A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 16 20234818 20234818 G A SNP GP2 NM_001007240 human genbank 54_36p -1 validated silent c.1471 p.L491 0.000 NULL HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1 - no_errors PLXDC2 84898 genome.wustl.edu 36 10 20330888 20330888 + Silent SNP G G A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 10 20330888 20330888 G A SNP PLXDC2 NM_032812 human genbank 54_36p +1 provisional silent c.291 p.L97 0.977 NULL HMMPfam_PSI,HMMSmart_SM00423 - no_errors ACSM1 116285 genome.wustl.edu 36 16 20580655 20580655 + Silent SNP T T C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 16 20580655 20580655 T C SNP ACSM1 NM_052956 human genbank 54_36p -1 validated silent c.954 p.S318 0.000 superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING - no_errors PPM1F 9647 genome.wustl.edu 36 22 20607647 20607647 + Missense_Mutation SNP C C G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 22 20607647 20607647 C G SNP PPM1F NM_014634 human genbank 54_36p -1 reviewed missense c.1183 p.A395P 0.999 superfamily_PP2C-related,HMMSmart_PP2Cc,HMMPfam_PP2C,HMMSmart_PP2C_SIG superfamily_PP2C-related,HMMSmart_PP2Cc,HMMPfam_PP2C,HMMSmart_PP2C_SIG,PatternScan_PP2C - no_errors MYH7 4625 genome.wustl.edu 36 14 22956041 22956041 + Missense_Mutation SNP T T C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 14 22956041 22956041 T C SNP MYH7 NM_000257 human genbank 54_36p -1 reviewed missense c.4520 p.E1507G 1.000 HMMPfam_Myosin_tail_1 HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,superfamily_Prefoldin,HMMPfam_Myosin_tail_1 - no_errors MYH7 4625 genome.wustl.edu 36 14 22962613 22962613 + Missense_Mutation SNP C C G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 14 22962613 22962613 C G SNP MYH7 NM_000257 human genbank 54_36p -1 reviewed missense c.3082 p.E1028Q 1.000 superfamily_Prefoldin HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors CPNE6 9362 genome.wustl.edu 36 14 23615275 23615275 + Silent SNP C C T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 14 23615275 23615275 C T SNP CPNE6 NM_006032 human genbank 54_36p +1 reviewed silent c.1002 p.P334 1.000 superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_Copine superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_Copine - no_errors SOX5 6660 genome.wustl.edu 36 12 23619907 23619907 + Missense_Mutation SNP C C A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 12 23619907 23619907 C A SNP SOX5 NM_006940 human genbank 54_36p -1 reviewed missense c.1297 p.V433F 1.000 NULL PatternScan_TONB_DEPENDENT_REC_1,superfamily_HMG-box,HMMSmart_SM00398,HMMPfam_HMG_box - no_errors TM9SF1 10548 genome.wustl.edu 36 14 23728628 23728628 + Missense_Mutation SNP A A C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 14 23728628 23728628 A C SNP TM9SF1 NM_006405 human genbank 54_36p -1 validated missense c.1654 p.F552V 0.998 HMMPfam_EMP70 HMMPfam_EMP70 - no_errors SUPT6H 6830 genome.wustl.edu 36 17 24034809 24034809 + Missense_Mutation SNP T A A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 17 24034809 24034809 T A SNP SUPT6H NM_003170 human genbank 54_36p +1 validated missense c.2077 p.Y693N 1.000 NULL HMMPfam_Tex_N,HMMSmart_SM00732,superfamily_Nucleic acid-binding proteins,HMMSmart_SM00316,HMMPfam_S1,superfamily_SH2 domain,HMMSmart_SM00252 - no_errors CASC1 55259 genome.wustl.edu 36 12 25163391 25163391 + Missense_Mutation SNP C C A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 12 25163391 25163391 C A SNP CASC1 NM_018272 human genbank 54_36p -1 validated missense c.1351 p.V451L 0.138 NULL NULL - no_errors KIF3C 3797 genome.wustl.edu 36 2 26057795 26057795 + Missense_Mutation SNP C C G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 2 26057795 26057795 C G SNP KIF3C NM_002254 human genbank 54_36p -1 validated missense c.496 p.E166Q 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_RIBOSOMAL_L2,PatternScan_KINESIN_MOTOR_DOMAIN1 - no_errors C2orf39 92749 genome.wustl.edu 36 2 26521311 26521311 + Missense_Mutation SNP A A T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 2 26521311 26521311 A T SNP C2orf39 NM_145038 human genbank 54_36p +1 validated missense c.1387 p.M463L 0.046 NULL NULL - no_errors ZNF204 7754 genome.wustl.edu 36 6 27434005 27434005 + RNA SNP T T C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 6 27434005 27434005 T C SNP ZNF204 NR_002722 human genbank 54_36p -1 validated rna NULL NULL 0.000 - - - pseudogene KIAA1012 22878 genome.wustl.edu 36 18 27734955 27734955 + Missense_Mutation SNP G G T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 18 27734955 27734955 G T SNP KIAA1012 NM_014939 human genbank 54_36p -1 validated missense c.1421 p.P474Q 1.000 NULL superfamily_TPR-like - no_errors SULT1A1 6817 genome.wustl.edu 36 16 28527667 28527667 + Missense_Mutation SNP A A G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 16 28527667 28527667 A G SNP SULT1A1 NM_001055 human genbank 54_36p -1 reviewed missense c.11 p.I4T 0.005 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1 - no_errors ALK 238 genome.wustl.edu 36 2 29298911 29298911 + Silent SNP T T G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 2 29298911 29298911 T G SNP ALK NM_004304 human genbank 54_36p -1 reviewed silent c.3426 p.P1142 0.503 superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP superfamily_LDL receptor-like module,HMMSmart_SM00192,HMMPfam_MAM,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II - no_errors TCN2 6948 genome.wustl.edu 36 22 29336918 29336918 + Missense_Mutation SNP T T C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 22 29336918 29336918 T C SNP TCN2 NM_000355 human genbank 54_36p +1 reviewed missense c.125 p.M42T 0.996 HMMPfam_Cobalamin_bind HMMPfam_Cobalamin_bind,PatternScan_COBALAMIN_BINDING - no_errors KRTAP6-1 337966 genome.wustl.edu 36 21 30908059 30908059 + Silent SNP G G T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 21 30908059 30908059 G T SNP KRTAP6-1 NM_181602 human genbank 54_36p -1 validated silent c.36 p.T12 0.077 NULL NULL - no_errors DDX11 1663 genome.wustl.edu 36 12 31142142 31142142 + Missense_Mutation SNP G G C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 12 31142142 31142142 G C SNP DDX11 NM_152438 human genbank 54_36p +1 reviewed missense c.1819 p.A607P 1.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00488,HMMPfam_DEAD_2,HMMSmart_SM00491 - no_errors PDE1C 5137 genome.wustl.edu 36 7 31871203 31871203 + Missense_Mutation SNP C C A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 7 31871203 31871203 C A SNP PDE1C NM_005020 human genbank 54_36p -1 provisional missense c.628 p.V210F 1.000 superfamily_SSF109604 HMMPfam_PDEase_I_N,superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I - no_errors IQCC 55721 genome.wustl.edu 36 1 32445846 32445846 + Missense_Mutation SNP G G C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 1 32445846 32445846 G C SNP IQCC NM_018134 human genbank 54_36p +1 provisional missense c.977 p.R326T 0.000 NULL HMMPfam_IQ - no_errors NFX1 4799 genome.wustl.edu 36 9 33285023 33285023 + Missense_Mutation SNP G T T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 9 33285023 33285023 G T SNP NFX1 NM_002504 human genbank 54_36p +1 reviewed missense c.631 p.V211L 0.008 NULL superfamily_RING/U-box,HMMSmart_SM00184,PatternScan_ZF_PHD_1,HMMPfam_zf-C3HC4,HMMPfam_zf-NF-X1,HMMSmart_SM00438,HMMSmart_SM00393,superfamily_R3H domain,HMMPfam_R3H - no_errors ANXA2P2 0 genome.wustl.edu 36 9 33615145 33615145 + RNA SNP A A G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 9 33615145 33615145 A G SNP ANXA2P2 NR_003573 human genbank 54_36p +1 validated rna NULL NULL 1.000 - - - pseudogene LGALS2 3957 genome.wustl.edu 36 22 36296573 36296573 + Missense_Mutation SNP G G C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 22 36296573 36296573 G C SNP LGALS2 NM_006498 human genbank 54_36p -1 reviewed missense c.205 p.Q69E 0.746 superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Gal-bind_lectin,HMMSmart_SM00276 superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Gal-bind_lectin,HMMSmart_SM00276 - no_errors POSTN 10631 genome.wustl.edu 36 13 37069407 37069407 + Silent SNP A A G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 13 37069407 37069407 A G SNP POSTN NM_006475 human genbank 54_36p -1 validated silent c.132 p.C44 1.000 HMMPfam_EMI HMMPfam_EMI,superfamily_FAS1 domain,HMMPfam_Fasciclin,HMMSmart_SM00554 - no_errors LOC344382 344382 genome.wustl.edu 36 2 37897829 37897829 + Missense_Mutation SNP G G C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 2 37897829 37897829 G C SNP LOC344382 XM_293026 human genbank 54_36p +1 model missense c.268 p.D90H 1.000 superfamily_WD40 repeat-like,HMMSmart_SM00320 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors DDHD2 23259 genome.wustl.edu 36 8 38226435 38226435 + Missense_Mutation SNP G G T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 8 38226435 38226435 G T SNP DDHD2 NM_015214 human genbank 54_36p +1 provisional missense c.1301 p.R434I 1.000 HMMSmart_SM00454,HMMPfam_SAM_1,superfamily_SAM/Pointed domain HMMPfam_WWE,HMMSmart_SM00454,HMMPfam_SAM_1,superfamily_SAM/Pointed domain,HMMPfam_DDHD - no_errors SLC25A39 51629 genome.wustl.edu 36 17 39755399 39755399 + Missense_Mutation SNP C T T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 17 39755399 39755399 C T SNP SLC25A39 NM_016016 human genbank 54_36p -1 validated missense c.214 p.G72S 1.000 superfamily_Mitochondrial carrier,HMMPfam_Mito_carr superfamily_Mitochondrial carrier,HMMPfam_Mito_carr - no_errors ITGA2B 3674 genome.wustl.edu 36 17 39808860 39808860 + Missense_Mutation SNP C C G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 17 39808860 39808860 C G SNP ITGA2B NM_000419 human genbank 54_36p -1 reviewed missense c.2468 p.G823A 0.873 HMMPfam_Integrin_alpha2,superfamily_Integrin domains superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha - no_errors ZNF619 285267 genome.wustl.edu 36 3 40500184 40500184 + Silent SNP C T T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 3 40500184 40500184 C T SNP ZNF619 NM_173656 human genbank 54_36p +1 validated silent c.213 p.G71 0.011 NULL superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors NELL2 4753 genome.wustl.edu 36 12 43200207 43200207 + Missense_Mutation SNP C C T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 12 43200207 43200207 C T SNP NELL2 NM_006159 human genbank 54_36p -1 reviewed missense c.2248 p.E750K 1.000 HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1 HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,superfamily_SSF57196,HMMSmart_EGF,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,HMMPfam_EGF_2,PatternScan_EGF_1 - no_errors KIAA0467 23334 genome.wustl.edu 36 1 43668870 43668870 + Missense_Mutation SNP G G T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 1 43668870 43668870 G T SNP KIAA0467 NM_015284 human genbank 54_36p +1 predicted missense c.1900 p.D634Y 0.998 NULL NULL - no_errors POLD2 5425 genome.wustl.edu 36 7 44123855 44123855 + Silent SNP G G T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 7 44123855 44123855 G T SNP POLD2 NM_006230 human genbank 54_36p -1 validated silent c.354 p.L118 0.994 NULL HMMPfam_DNA_pol_E_B - no_errors SMC1B 27127 genome.wustl.edu 36 22 44183306 44183306 + Missense_Mutation SNP T T A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 22 44183306 44183306 T A SNP SMC1B NM_148674 human genbank 54_36p -1 validated missense c.247 p.I83L 0.891 superfamily_SSF52540,HMMPfam_SMC_N superfamily_SSF52540,HMMPfam_SMC_N,superfamily_SMC_hinge,HMMPfam_SMC_hinge - no_errors ZMYND8 23613 genome.wustl.edu 36 20 45324550 45324550 + Missense_Mutation SNP C C T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 20 45324550 45324550 C T SNP ZMYND8 NM_183047 human genbank 54_36p -1 reviewed missense c.1510 p.A504T 1.000 NULL superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,superfamily_SSF63748,HMMPfam_PWWP,HMMPfam_zf-MYND,PatternScan_ZF_MYND_1 - no_errors MDGA2 161357 genome.wustl.edu 36 14 46458990 46458990 + Missense_Mutation SNP A A C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 14 46458990 46458990 A C SNP MDGA2 NM_182830 human genbank 54_36p -1 validated missense c.1319 p.V440G 1.000 superfamily_FN_III-like superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMPfam_I-set,superfamily_FN_III-like,HMMSmart_MAM,HMMPfam_MAM - no_errors MCM3AP 8888 genome.wustl.edu 36 21 46491121 46491121 + Missense_Mutation SNP A A C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 21 46491121 46491121 A C SNP MCM3AP NM_003906 human genbank 54_36p -1 reviewed missense c.4398 p.S1466R 0.056 NULL superfamily_SSF54928,HMMPfam_SAC3_GANP - no_errors TTC7A 57217 genome.wustl.edu 36 2 47132465 47132465 + Silent SNP C C A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 2 47132465 47132465 C A SNP TTC7A NM_020458 human genbank 54_36p +1 validated silent c.2094 p.V698 0.995 superfamily_TPR-like superfamily_TPR-like,HMMSmart_SM00028,HMMPfam_TPR_1,HMMPfam_TPR_2 - no_errors AQP6 363 genome.wustl.edu 36 12 48653470 48653470 + Missense_Mutation SNP C C A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 12 48653470 48653470 C A SNP AQP6 NM_001652 human genbank 54_36p +1 reviewed missense c.247 p.P83T 1.000 superfamily_MIP,HMMPfam_MIP,PatternScan_MIP superfamily_MIP,HMMPfam_MIP,PatternScan_MIP - no_errors ZNF226 7769 genome.wustl.edu 36 19 49371845 49371845 + Missense_Mutation SNP G G T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 19 49371845 49371845 G T SNP ZNF226 NM_001032372 human genbank 54_36p +1 validated missense c.590 p.C197F 0.000 NULL superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors C10orf71 118461 genome.wustl.edu 36 10 50200678 50200678 + Missense_Mutation SNP G G A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 10 50200678 50200678 G A SNP C10orf71 NM_199459 human genbank 54_36p +1 validated missense c.82 p.E28K 1.000 NULL NULL - no_errors TRIM9 114088 genome.wustl.edu 36 14 50515763 50515763 + Missense_Mutation SNP C C G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 14 50515763 50515763 C G SNP TRIM9 ENST00000338969 human ensembl 54_36p -1 known missense c.2405 p.S802T 0.001 NULL superfamily_SSF57850,HMMPfam_zf-C3HC4,HMMSmart_RING,PatternScan_ZF_RING_1,HMMSmart_BBOX,HMMPfam_zf-B_box,HMMSmart_BBC,superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3,superfamily_ConA_like_lec_gl,HMMPfam_SPRY - no_errors HUWE1 10075 genome.wustl.edu 36 X 53592989 53592989 + Missense_Mutation SNP G G T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 X 53592989 53592989 G T SNP HUWE1 NM_031407 human genbank 54_36p -1 validated missense c.9691 p.Q3231K 1.000 NULL HMMPfam_DUF908,superfamily_ARM repeat,HMMPfam_DUF913,superfamily_UBA-like,HMMPfam_UBA,HMMSmart_SM00165,HMMPfam_WWE,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT - no_errors TEX14 56155 genome.wustl.edu 36 17 53997229 53997229 + Missense_Mutation SNP C C A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 17 53997229 53997229 C A SNP TEX14 NM_198393 human genbank 54_36p -1 reviewed missense c.4184 p.R1395I 1.000 NULL superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr - no_errors ENSG00000204471 0 genome.wustl.edu 36 17 55449361 55449361 + Missense_Mutation SNP C C T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 17 55449361 55449361 C T SNP ENSG00000204471 ENST00000338790 human ensembl 54_36p -1 known missense c.119 p.G40E 0.000 NULL superfamily_RabGAP_TBC,HMMPfam_TBC - no_errors DST 667 genome.wustl.edu 36 6 56615536 56615536 + Missense_Mutation SNP T T C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 6 56615536 56615536 T C SNP DST NM_015548 human genbank 54_36p -1 reviewed missense c.10 p.S4G 1.000 NULL HMMSmart_SM00150,superfamily_Spectrin repeat,HMMPfam_Spectrin,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_SM00243 - no_errors MYO1E 4643 genome.wustl.edu 36 15 57257950 57257950 + Silent SNP C C G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 15 57257950 57257950 C G SNP MYO1E NM_004998 human genbank 54_36p -1 validated silent c.1983 p.S661 0.226 HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head,HMMPfam_Myosin_TH1,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326 - no_errors PECAM1 5175 genome.wustl.edu 36 17 59802052 59802052 + Silent SNP G G A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 17 59802052 59802052 G A SNP PECAM1 NM_000442 human genbank 54_36p -1 provisional silent c.525 p.V175 0.018 superfamily_Immunoglobulin HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409 - pseudogene:no_stop_codon:bad_bp_length_for_coding_region NLRP13 126204 genome.wustl.edu 36 19 61115621 61115621 + Silent SNP A A G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 19 61115621 61115621 A G SNP NLRP13 NM_176810 human genbank 54_36p -1 validated silent c.1374 p.Y458 0.001 NULL superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_SSF52047,HMMPfam_LRR_1 - no_errors NLRP13 126204 genome.wustl.edu 36 19 61115783 61115783 + Missense_Mutation SNP T T A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 19 61115783 61115783 T A SNP NLRP13 NM_176810 human genbank 54_36p -1 validated missense c.1212 p.E404D 0.000 NULL HMMPfam_LRR_1,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH_like,superfamily_SSF52047 - no_errors CCT4 10575 genome.wustl.edu 36 2 61950099 61950099 + Missense_Mutation SNP T T C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 2 61950099 61950099 T C SNP CCT4 NM_006430 human genbank 54_36p -1 validated missense c.1585 p.I529V 1.000 superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1 superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1,PatternScan_TCP1_1,PatternScan_TCP1_2,PatternScan_TCP1_3,superfamily_SSF54849,superfamily_SSF52029 - no_errors KHDRBS2 202559 genome.wustl.edu 36 6 62669224 62669224 + Silent SNP A A G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 6 62669224 62669224 A G SNP KHDRBS2 NM_152688 human genbank 54_36p -1 validated silent c.495 p.D165 1.000 superfamily_SSF54791 HMMSmart_KH,superfamily_SSF54791,HMMPfam_KH_1 - no_errors C2orf86 51057 genome.wustl.edu 36 2 63520403 63520403 + Missense_Mutation SNP A A G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 2 63520403 63520403 A G SNP C2orf86 NM_015910 human genbank 54_36p -1 validated missense c.491 p.I164T 1.000 NULL NULL - no_errors SLC9A5 6553 genome.wustl.edu 36 16 65851283 65851283 + Missense_Mutation SNP G G T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 16 65851283 65851283 G T SNP SLC9A5 NM_004594 human genbank 54_36p +1 validated missense c.1775 p.G592V 1.000 NULL HMMPfam_Na_H_Exchanger - no_errors LOC728683 728683 genome.wustl.edu 36 9 67861543 67861543 + Missense_Mutation SNP A A T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 9 67861543 67861543 A T SNP LOC728683 XM_001128151 human genbank 54_36p -1 model missense c.707 p.M236K 1.000 NULL HMMPfam_7tm_1 - no_errors BAI3 577 genome.wustl.edu 36 6 69722803 69722803 + Splice_Site SNP T T A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 6 69722803 69722803 T A SNP BAI3 NM_001704 human genbank 54_36p +1 reviewed splice_site c.1360+2 e5+2 0.999 - - - no_errors UGT2A3 79799 genome.wustl.edu 36 4 69851479 69851479 + Missense_Mutation SNP T T A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 4 69851479 69851479 T A SNP UGT2A3 NM_024743 human genbank 54_36p -1 validated missense c.589 p.T197S 0.000 superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT PatternScan_HMA_1,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT - no_errors DNA2 1763 genome.wustl.edu 36 10 69899854 69899854 + Silent SNP C C G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 10 69899854 69899854 C G SNP DNA2 NM_001080449 human genbank 54_36p -1 provisional silent c.405 p.V135 0.630 NULL HMMPfam_Dna2,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors SFRS11 9295 genome.wustl.edu 36 1 70488288 70488288 + Missense_Mutation SNP G G C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 1 70488288 70488288 G C SNP SFRS11 NM_004768 human genbank 54_36p +1 reviewed missense c.1088 p.R363T 1.000 NULL superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1 - no_errors TBC1D4 9882 genome.wustl.edu 36 13 74782232 74782232 + Missense_Mutation SNP C C G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 13 74782232 74782232 C G SNP TBC1D4 NM_014832 human genbank 54_36p -1 validated missense c.2440 p.E814Q 1.000 NULL superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164 - no_errors CRISPLD1 83690 genome.wustl.edu 36 8 76060816 76060816 + Silent SNP A A C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 8 76060816 76060816 A C SNP CRISPLD1 NM_031461 human genbank 54_36p +1 validated silent c.39 p.T13 0.929 NULL superfamily_PR-1-like,HMMSmart_SM00198,HMMPfam_SCP,PatternScan_CRISP_2,superfamily_LCCL domain,HMMSmart_SM00603,HMMPfam_LCCL - no_errors C14orf133 63894 genome.wustl.edu 36 14 76977164 76977164 + Missense_Mutation SNP C C A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 14 76977164 76977164 C A SNP C14orf133 NM_022067 human genbank 54_36p -1 predicted missense c.760 p.A254S 1.000 HMMPfam_Golgin_A5 HMMPfam_Golgin_A5 - no_errors ROBO1 6091 genome.wustl.edu 36 3 79070707 79070707 + Missense_Mutation SNP A A C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 3 79070707 79070707 A C SNP ROBO1 NM_002941 human genbank 54_36p -1 reviewed missense c.233 p.I78S 1.000 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors LOC729779 729779 genome.wustl.edu 36 1 79294026 79294026 + RNA SNP A A G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 1 79294026 79294026 A G SNP LOC729779 XR_016024 human genbank 54_36p -1 model rna NULL NULL 0.997 - - - pseudogene SLC38A8 146167 genome.wustl.edu 36 16 82633123 82633123 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 16 82633123 82633123 C T SNP SLC38A8 NM_001080442 human genbank 54_36p -1 provisional nonsense c.141 p.W47* 1.000 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors VCAN 1462 genome.wustl.edu 36 5 82852068 82852068 + Silent SNP T T C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 5 82852068 82852068 T C SNP VCAN NM_004385 human genbank 54_36p +1 validated silent c.2187 p.S729 0.129 NULL HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,superfamily_C-type lectin-like,HMMSmart_SM00445,HMMPfam_Xlink,PatternScan_LINK_1,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00179,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - no_errors THAP9 79725 genome.wustl.edu 36 4 84057961 84057961 + Missense_Mutation SNP G G T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 4 84057961 84057961 G T SNP THAP9 NM_024672 human genbank 54_36p +1 validated missense c.1572 p.R524S 1.000 NULL HMMPfam_THAP,HMMSmart_DM3 - no_errors SLC7A13 157724 genome.wustl.edu 36 8 87311108 87311108 + Missense_Mutation SNP C C G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 8 87311108 87311108 C G SNP SLC7A13 NM_138817 human genbank 54_36p -1 validated missense c.515 p.S172T 0.004 HMMPfam_AA_permease HMMPfam_AA_permease - no_errors ANKRD11 29123 genome.wustl.edu 36 16 87899164 87899164 + Silent SNP C T T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 16 87899164 87899164 C T SNP ANKRD11 NM_013275 human genbank 54_36p -1 validated silent c.177 p.K59 1.000 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors GLUD1 2746 genome.wustl.edu 36 10 88844378 88844378 + Silent SNP C C A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 10 88844378 88844378 C A SNP GLUD1 NM_005271 human genbank 54_36p -1 validated silent c.129 p.P43 0.487 NULL superfamily_SSF53223,HMMPfam_ELFV_dehydrog_N,PatternScan_GLFV_DEHYDROGENASE,HMMPfam_ELFV_dehydrog,superfamily_NAD(P)-bd - no_errors ENSG00000211624 0 genome.wustl.edu 36 2 89681519 89681519 + Silent SNP T T C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 2 89681519 89681519 T C SNP ENSG00000211624 ENST00000390269 human ensembl 54_36p +1 known silent c.135 p.S45 0.990 HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv - no_stop_codon:bad_bp_length_for_coding_region FZD1 8321 genome.wustl.edu 36 7 90733069 90733069 + Missense_Mutation SNP C C T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 7 90733069 90733069 C T SNP FZD1 NM_003505 human genbank 54_36p +1 reviewed missense c.938 p.P313L 0.999 HMMPfam_Frizzled HMMPfam_Fz,superfamily_Frizzled cysteine-rich domain,HMMSmart_SM00063,HMMPfam_Frizzled - no_errors SPTLC1 10558 genome.wustl.edu 36 9 93917418 93917418 + Missense_Mutation SNP T T C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 9 93917418 93917418 T C SNP SPTLC1 NM_006415 human genbank 54_36p -1 reviewed missense c.56 p.E19G 1.000 NULL superfamily_PLP-dependent transferases,HMMPfam_Aminotran_1_2 - no_errors CNNM3 26505 genome.wustl.edu 36 2 96862038 96862038 + Silent SNP C C G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 2 96862038 96862038 C G SNP CNNM3 NM_017623 human genbank 54_36p +1 validated silent c.2082 p.G694 0.000 NULL HMMPfam_DUF21,HMMPfam_CBS - no_errors AVPI1 60370 genome.wustl.edu 36 10 99427672 99427672 + Missense_Mutation SNP G G A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 10 99427672 99427672 G A SNP AVPI1 NM_021732 human genbank 54_36p -1 validated missense c.388 p.R130C 0.972 NULL NULL - no_errors TRIM56 81844 genome.wustl.edu 36 7 100519013 100519013 + Missense_Mutation SNP G G C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 7 100519013 100519013 G C SNP TRIM56 NM_030961 human genbank 54_36p +1 provisional missense c.1700 p.S567T 0.000 superfamily_NHL repeat superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_NHL repeat - no_errors LOC646970 646970 genome.wustl.edu 36 1 100570743 100570743 + RNA SNP C C T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 1 100570743 100570743 C T SNP LOC646970 XR_017347 human genbank 54_36p -1 model rna NULL NULL 0.001 - - - pseudogene ITGBL1 9358 genome.wustl.edu 36 13 101033642 101033642 + Missense_Mutation SNP C C T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 13 101033642 101033642 C T SNP ITGBL1 NM_004791 human genbank 54_36p +1 provisional missense c.803 p.T268I 1.000 superfamily_SSF57196 HMMPfam_EGF_2,PatternScan_INTEGRIN_BETA,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_EGF - no_errors TBC1D8B 54885 genome.wustl.edu 36 X 105998309 105998309 + Nonsense_Mutation SNP C C A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 X 105998309 105998309 C A SNP TBC1D8B NM_017752 human genbank 54_36p +1 validated nonsense c.2759 p.S920* 1.000 superfamily_EF-hand,PatternScan_EF_HAND_1 HMMPfam_GRAM,HMMSmart_SM00568,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164,superfamily_EF-hand,PatternScan_EF_HAND_1 - no_errors ZFPM2 23414 genome.wustl.edu 36 8 106883796 106883796 + Nonsense_Mutation SNP T T A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 8 106883796 106883796 T A SNP ZFPM2 NM_012082 human genbank 54_36p +1 reviewed nonsense c.2310 p.C770* 1.000 NULL superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors LEF1 51176 genome.wustl.edu 36 4 109305701 109305701 + Splice_Site SNP C A A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 4 109305701 109305701 C A SNP LEF1 NM_016269 human genbank 54_36p -1 validated splice_site c.280+1 e2+1 1.000 - - - no_errors TMEM74 157753 genome.wustl.edu 36 8 109866356 109866356 + Missense_Mutation SNP G G C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 8 109866356 109866356 G C SNP TMEM74 NM_153015 human genbank 54_36p -1 provisional missense c.148 p.P50A 0.000 NULL NULL - no_errors APC 324 genome.wustl.edu 36 5 112201764 112201764 + Silent SNP T C C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 5 112201764 112201764 T C SNP APC NM_000038 human genbank 54_36p +1 reviewed silent c.2574 p.I858 0.023 NULL superfamily_ARM repeat,HMMSmart_SM00185,HMMPfam_Arm,HMMPfam_APC_15aa,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_APC_basic,HMMPfam_EB1_binding - no_errors IL1F8 27177 genome.wustl.edu 36 2 113505198 113505198 + Missense_Mutation SNP C C A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 2 113505198 113505198 C A SNP IL1F8 NM_014438 human genbank 54_36p -1 reviewed missense c.19 p.A7S 0.000 superfamily_Cytokine superfamily_Cytokine - no_errors RASA3 22821 genome.wustl.edu 36 13 113798860 113798860 + Silent SNP A A G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 13 113798860 113798860 A G SNP RASA3 NM_007368 human genbank 54_36p -1 reviewed silent c.1332 p.S444 0.887 HMMSmart_RasGAP,superfamily_Rho_GAP,HMMPfam_RasGAP superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMSmart_RasGAP,superfamily_Rho_GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_BTK,HMMPfam_BTK - no_errors TG 7038 genome.wustl.edu 36 8 133982801 133982801 + Missense_Mutation SNP T T C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 8 133982801 133982801 T C SNP TG NM_003235 human genbank 54_36p +1 validated missense c.3455 p.L1152P 0.042 superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1 superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_SM00211,superfamily_TNF receptor-like,HMMPfam_GCC2_GCC3,HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases,PatternScan_CARBOXYLESTERASE_B_2 - no_errors OLFM1 10439 genome.wustl.edu 36 9 137127566 137127566 + Missense_Mutation SNP C G G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 9 137127566 137127566 C G SNP OLFM1 NM_006334 human genbank 54_36p +1 reviewed missense c.282 p.D94E 1.000 NULL NULL - no_errors CDC23 8697 genome.wustl.edu 36 5 137553295 137553295 + Missense_Mutation SNP C C T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 5 137553295 137553295 C T SNP CDC23 NM_004661 human genbank 54_36p -1 reviewed missense c.1549 p.A517T 1.000 superfamily_TPR-like,HMMSmart_SM00028 HMMPfam_APC8,superfamily_TPR-like,HMMSmart_SM00028,HMMPfam_TPR_1 - no_errors MCF2 4168 genome.wustl.edu 36 X 138523054 138523054 + Silent SNP T C C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 X 138523054 138523054 T C SNP MCF2 ENST00000338585 human ensembl 54_36p -1 known silent c.1398 p.K466 1.000 NULL superfamily_Spectrin repeat,HMMSmart_SM00150,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors PCDHGA2 56113 genome.wustl.edu 36 5 140699103 140699103 + Missense_Mutation SNP C C A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 5 140699103 140699103 C A SNP PCDHGA2 NM_018915 human genbank 54_36p +1 reviewed missense c.381 p.N127K 0.937 HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like HMMSmart_SM00112,superfamily_Cadherin-like,HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors GPR126 57211 genome.wustl.edu 36 6 142768599 142768599 + Missense_Mutation SNP G G T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 6 142768599 142768599 G T SNP GPR126 NM_198569 human genbank 54_36p +1 validated missense c.2209 p.D737Y 0.983 NULL superfamily_CUB,HMMPfam_CUB,HMMSmart_CUB,superfamily_ConA_like_lec_gl,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,superfamily_SSF81321,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors CTAGE4 0 genome.wustl.edu 36 7 143513656 143513656 + RNA SNP T T C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 7 143513656 143513656 T C SNP CTAGE4 XR_038147 human genbank 54_36p +1 model rna NULL NULL 0.929 - - - no_errors CYP11B1 1584 genome.wustl.edu 36 8 143958191 143958191 + Missense_Mutation SNP G G C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 8 143958191 143958191 G C SNP CYP11B1 NM_000497 human genbank 54_36p -1 reviewed missense c.41 p.P14R 0.041 NULL HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450 - no_errors PARP10 84875 genome.wustl.edu 36 8 145131224 145131224 + Missense_Mutation SNP G G C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 8 145131224 145131224 G C SNP PARP10 NM_032789 human genbank 54_36p -1 validated missense c.934 p.P312A 0.000 NULL HMMSmart_UIM,superfamily_SSF56399,HMMPfam_PARP - no_errors F5 2153 genome.wustl.edu 36 1 167788597 167788597 + Splice_Site SNP C C G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 1 167788597 167788597 C G SNP F5 NM_000130 human genbank 54_36p -1 reviewed splice_site c.1119-1 e8-1 1.000 - - - no_errors NSD1 64324 genome.wustl.edu 36 5 176495000 176495000 + Missense_Mutation SNP T T A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 5 176495000 176495000 T A SNP NSD1 NM_022455 human genbank 54_36p +1 reviewed missense c.290 p.F97Y 1.000 NULL superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_SET domain,HMMSmart_SM00570,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508 - no_errors TTC30A 92104 genome.wustl.edu 36 2 178189808 178189808 + Missense_Mutation SNP C C A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 2 178189808 178189808 C A SNP TTC30A NM_152275 human genbank 54_36p -1 validated missense c.1868 p.G623V 0.995 NULL superfamily_SSF48452,HMMPfam_TPR_2,HMMSmart_TPR,HMMPfam_TPR_1 - no_errors TTN 7273 genome.wustl.edu 36 2 179324182 179324182 + Silent SNP T T C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 2 179324182 179324182 T C SNP TTN NM_133379 human genbank 54_36p -1 reviewed silent c.11190 p.R3730 0.008 NULL superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_Titin_Z,HMMPfam_ig,PatternScan_IG_MHC,PatternScan_THIOL_PROTEASE_HIS - no_errors TTN 7273 genome.wustl.edu 36 2 179337594 179337594 + Missense_Mutation SNP A A G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 2 179337594 179337594 A G SNP TTN NM_133379 human genbank 54_36p -1 reviewed missense c.9893 p.L3298P 0.998 HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 PatternScan_THIOL_PROTEASE_HIS,PatternScan_IG_MHC,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,superfamily_SSF48726 - no_errors GLUL 2752 genome.wustl.edu 36 1 180620287 180620287 + Missense_Mutation SNP T T C novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 1 180620287 180620287 T C SNP GLUL NM_001033044 human genbank 54_36p -1 validated missense c.998 p.K333R 1.000 superfamily_Glutamine synthetase/guanido kinase,HMMPfam_Gln-synt_C superfamily_Glutamine synthetase N-terminal domain,HMMPfam_Gln-synt_N,PatternScan_GLNA_1,superfamily_Glutamine synthetase/guanido kinase,HMMPfam_Gln-synt_C,PatternScan_GLNA_ATP - no_errors TP63 8626 genome.wustl.edu 36 3 191094870 191094870 + Missense_Mutation SNP G G A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 3 191094870 191094870 G A SNP TP63 NM_003722 human genbank 54_36p +1 reviewed missense c.1928 p.R643Q 1.000 NULL HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMSmart_SM00454,HMMPfam_SAM_2,superfamily_SAM/Pointed domain - no_errors HHAT 55733 genome.wustl.edu 36 1 208914327 208914327 + Missense_Mutation SNP A A T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 1 208914327 208914327 A T SNP HHAT NM_018194 human genbank 54_36p +1 validated missense c.1465 p.T489S 0.725 NULL HMMPfam_MBOAT - no_errors TNS1 7145 genome.wustl.edu 36 2 218391145 218391145 + Silent SNP G G A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 2 218391145 218391145 G A SNP TNS1 NM_022648 human genbank 54_36p -1 reviewed silent c.3843 p.G1281 0.582 NULL superfamily_SSF52799,HMMPfam_PTEN_C2,superfamily_C2_CaLB,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_SSF50729,HMMSmart_PTB,HMMPfam_PTB - no_errors SERPINE2 5270 genome.wustl.edu 36 2 224553358 224553358 + Missense_Mutation SNP C C T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 2 224553358 224553358 C T SNP SERPINE2 NM_006216 human genbank 54_36p -1 validated missense c.989 p.G330E 1.000 HMMPfam_Serpin,superfamily_Serpins,HMMSmart_SM00093 HMMPfam_Serpin,superfamily_Serpins,HMMSmart_SM00093,PatternScan_SERPIN - no_errors DOCK10 55619 genome.wustl.edu 36 2 225348056 225348056 + Missense_Mutation SNP G G T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 2 225348056 225348056 G T SNP DOCK10 NM_014689 human genbank 54_36p -1 validated missense c.5823 p.D1941E 0.998 NULL superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Ded_cyto - no_errors OBSCN 84033 genome.wustl.edu 36 1 226549246 226549246 + Nonsense_Mutation SNP C C G novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 1 226549246 226549246 C G SNP OBSCN NM_001098623 human genbank 54_36p +1 reviewed nonsense c.11538 p.Y3846* 0.299 HMMSmart_SM00406,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMPfam_V-set,HMMSmart_SM00015,HMMPfam_IQ,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Protein kinase-like (PK-like),PatternScan_GLYCOSYL_HYDROL_F5,HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,PatternScan_PROTEIN_KINASE_TYR - no_errors TRIM17 51127 genome.wustl.edu 36 1 226665355 226665355 + Missense_Mutation SNP C C A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 1 226665355 226665355 C A SNP TRIM17 NM_001024940 human genbank 54_36p -1 reviewed missense c.671 p.C224F 0.000 NULL superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY - no_errors KIF1A 547 genome.wustl.edu 36 2 241377339 241377339 + Missense_Mutation SNP C C A novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 2 241377339 241377339 C A SNP KIF1A NM_004321 human genbank 54_36p -1 reviewed missense c.170 p.W57L 1.000 HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors KIF26B 55083 genome.wustl.edu 36 1 243596877 243596877 + Missense_Mutation SNP A A T novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 1 243596877 243596877 A T SNP KIF26B NM_018012 human genbank 54_36p +1 provisional missense c.584 p.K195M 1.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin - no_errors NRIP1 8204 genome.wustl.edu 36 21 15259205 15259230 + Frame_Shift_Del DEL TCTTGGAGAGTCTTTTTCATACTCAT TCTTGGAGAGTCTTTTTCATACTCAT - novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 TCTTGGAGAGTCTTTTTCATACTCAT TCTTGGAGAGTCTTTTTCATACTCAT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 21 15259205 15259230 TCTTGGAGAGTCTTTTTCATACTCAT - DEL NRIP1 NM_003489 human genbank 54_36p -1 reviewed frame_shift_del c.3180_3155 p.N1052fs 0.569:0.559:0.271:0.042:0.996:0.998:0.913:0.998:1.000:1.000:1.000:0.999:0.720:0.586:0.576:0.128:0.157:0.250:0.230:0.256:0.265:0.225:0.915:0.997:0.982:0.983 NULL NULL (deletion:cds_exon[15258908,15262384]) no_errors TM9SF1 10548 genome.wustl.edu 36 14 23728592 23728592 + Frame_Shift_Del DEL C C - novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 14 23728592 23728592 C - DEL TM9SF1 NM_006405 human genbank 54_36p -1 validated frame_shift_del c.1690 p.V564fs 0.995 HMMPfam_EMP70 HMMPfam_EMP70 (deletion:cds_exon[23728461,23728854]) no_errors TM9SF1 10548 genome.wustl.edu 36 14 23728594 23728610 + Frame_Shift_Del DEL GCCCCAGACATGTTGGA GCCCCAGACATGTTGGA - novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 GCCCCAGACATGTTGGA GCCCCAGACATGTTGGA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 14 23728594 23728610 GCCCCAGACATGTTGGA - DEL TM9SF1 NM_006405 human genbank 54_36p -1 validated frame_shift_del c.1688_1672 p.N559fs 0.931:0.942:0.961:1.000:1.000:0.991:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:0.996:1.000:1.000 HMMPfam_EMP70 HMMPfam_EMP70 (deletion:cds_exon[23728461,23728854]) no_errors ADAMTS1 9510 genome.wustl.edu 36 21 27134164 27134164 + Frame_Shift_Del DEL C C - novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 21 27134164 27134164 C - DEL ADAMTS1 NM_006988 human genbank 54_36p -1 reviewed frame_shift_del c.1753 p.E585fs 1.000 superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1 PatternScan_DISINTEGRIN_1,HMMPfam_Pep_M12B_propep,superfamily_SSF55486,HMMPfam_Reprolysin,PatternScan_ZINC_PROTEASE,HMMSmart_ACR,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1 (deletion:cds_exon[27134065,27134251]) no_errors SPTB 6710 genome.wustl.edu 36 14 64330088 64330088 + Frame_Shift_Del DEL A A - novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 14 64330088 64330088 A - DEL SPTB NM_001024858 human genbank 54_36p -1 validated frame_shift_del c.2046 p.F682fs 1.000 HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH (deletion:cds_exon[64329468,64330338]) no_errors WWP2 11060 genome.wustl.edu 36 16 68525493 68525493 + Frame_Shift_Del DEL A A - novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 16 68525493 68525493 A - DEL WWP2 NM_007014 human genbank 54_36p +1 reviewed frame_shift_del c.1802 p.H601fs 1.000 superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT (deletion:cds_exon[68525374,68525533]) no_errors LOC389000 389000 genome.wustl.edu 36 2 91482175 91482194 + Frame_Shift_Del DEL TGAAACAAACCACCTTCAAA TGAAACAAACCACCTTCAAA - novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 TGAAACAAACCACCTTCAAA TGAAACAAACCACCTTCAAA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 2 91482175 91482194 TGAAACAAACCACCTTCAAA - DEL LOC389000 XM_371534 human genbank 54_36p -1 model frame_shift_del c.550_531 p.H177fs 0.988:0.989:0.999:1.000:1.000:1.000:1.000:0.999:1.000:0.997:0.989:0.990:0.990:0.991:0.998:0.998:0.995:0.995:0.994:0.988 HMMPfam_Na_H_Exchanger HMMPfam_Na_H_Exchanger (deletion:cds_exon[91482078,91482205]) pseudogene PDE6C 5146 genome.wustl.edu 36 10 95362511 95362516 + In_Frame_Del DEL GGAGGA GGAGGA - novel unknown TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 GGAGGA GGAGGA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 36e9c812-7a90-45cd-a44a-1e88ce96f2ea 1f5d62fb-db02-4d9a-839c-07d882823246 10 95362511 95362516 GGAGGA - DEL PDE6C NM_006204 human genbank 54_36p +1 validated in_frame_del c.39_44 p.EE14in_frame_del 0.998:0.996:1.000:1.000:0.997:0.997 NULL superfamily_SSF55781,HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I (deletion:cds_exon[95362473,95362952]) no_errors