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-CO1 4512 genome.wustl.edu 36 MT 5926 5926 + Missense_Mutation SNP T C C novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 MT 5926 5926 T C SNP MT-CO1 ENST00000361624 human ensembl 54_36p +1 known missense c.22 p.F8L NULL superfamily_Cytochrome c oxidase subunit I-like,HMMPfam_COX1 superfamily_Cytochrome c oxidase subunit I-like,HMMPfam_COX1,PatternScan_COX1_CUB - no_stop_codon SCARF1 8578 genome.wustl.edu 36 17 1485236 1485236 + Missense_Mutation SNP G G A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 17 1485236 1485236 G A SNP SCARF1 NM_003693 human genbank 54_36p -1 reviewed missense c.2059 p.P687S 0.001 NULL superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_Laminin_EGF,superfamily_Growth factor receptor domain - no_errors CSMD1 64478 genome.wustl.edu 36 8 2794277 2794277 + Missense_Mutation SNP T T A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 8 2794277 2794277 T A SNP CSMD1 NM_033225 human genbank 54_36p -1 validated missense c.10357 p.R3453W 1.000 NULL superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - pseudogene:no_stop_codon:bad_bp_length_for_coding_region MIRN637 0 genome.wustl.edu 36 19 3912449 3912449 + RNA SNP G G A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 19 3912449 3912449 G A SNP MIRN637 ENST00000385000 human ensembl 54_36p -1 known rna NULL NULL 0.002 - - - no_errors KCNA6 3742 genome.wustl.edu 36 12 4790081 4790081 + Missense_Mutation SNP G G C novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 12 4790081 4790081 G C SNP KCNA6 NM_002235 human genbank 54_36p +1 reviewed missense c.613 p.G205R 0.818 superfamily_SSF81324 superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra,superfamily_SSF81324,HMMPfam_Ion_trans - no_errors OR51A7 119687 genome.wustl.edu 36 11 4885450 4885450 + Missense_Mutation SNP T T G novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 11 4885450 4885450 T G SNP OR51A7 NM_001004749 human genbank 54_36p +1 provisional missense c.275 p.I92S 0.305 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors LOC100129673 0 genome.wustl.edu 36 17 4955950 4955950 + Missense_Mutation SNP C T T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 17 4955950 4955950 C T SNP LOC100129673 XM_001715544 human genbank 54_36p +1 model missense c.805 p.R269W 0.000 NULL NULL - no_errors CHGB 1114 genome.wustl.edu 36 20 5852368 5852368 + Silent SNP C C T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 20 5852368 5852368 C T SNP CHGB NM_001819 human genbank 54_36p +1 reviewed silent c.1578 p.Y526 0.002 HMMPfam_Granin HMMPfam_Granin,PatternScan_GRANINS_2,PatternScan_GRANINS_1 - no_errors SLC25A23 79085 genome.wustl.edu 36 19 6407498 6407498 + Missense_Mutation SNP C C T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 19 6407498 6407498 C T SNP SLC25A23 NM_024103 human genbank 54_36p -1 validated missense c.416 p.R139H 0.995 superfamily_EF-hand,HMMSmart_SM00054 superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_Mitochondrial carrier,HMMPfam_Mito_carr - no_errors RREB1 6239 genome.wustl.edu 36 6 7175383 7175383 + Silent SNP C C T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 6 7175383 7175383 C T SNP RREB1 NM_001003699 human genbank 54_36p +1 validated silent c.2052 p.A684 0.988 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2 HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667 - no_errors TP53 7157 genome.wustl.edu 36 17 7518335 7518335 + Splice_Site SNP T C C novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 17 7518335 7518335 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.673-2 e6-2 0.989 - - - no_errors ARHGEF15 22899 genome.wustl.edu 36 17 8156303 8156303 + Missense_Mutation SNP C C A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 17 8156303 8156303 C A SNP ARHGEF15 NM_173728 human genbank 54_36p +1 reviewed missense c.221 p.A74D 0.532 NULL PatternScan_DH_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729 - no_errors ZNF699 374879 genome.wustl.edu 36 19 9268394 9268394 + Missense_Mutation SNP C C A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 19 9268394 9268394 C A SNP ZNF699 NM_198535 human genbank 54_36p -1 provisional missense c.686 p.G229V 0.993 superfamily_SSF57667,HMMSmart_ZnF_C2H2 superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 - no_errors ZNF18 7566 genome.wustl.edu 36 17 11822074 11822074 + Missense_Mutation SNP A A C novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 17 11822074 11822074 A C SNP ZNF18 NM_144680 human genbank 54_36p -1 provisional missense c.1575 p.C525W 0.998 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_KRAB,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors CD97 976 genome.wustl.edu 36 19 14377748 14377748 + Silent SNP C C T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 19 14377748 14377748 C T SNP CD97 NM_078481 human genbank 54_36p +1 reviewed silent c.1818 p.G606 0.001 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_2 HMMSmart_SM00181,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors DCLRE1C 64421 genome.wustl.edu 36 10 14990530 14990530 + Silent SNP G G A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 10 14990530 14990530 G A SNP DCLRE1C NM_001033855 human genbank 54_36p -1 reviewed silent c.1962 p.P654 0.999 NULL superfamily_Metallo-hydrolase/oxidoreductase,HMMPfam_DRMBL - no_errors NBAS 51594 genome.wustl.edu 36 2 15276464 15276464 + Missense_Mutation SNP G G C novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 2 15276464 15276464 G C SNP NBAS NM_015909 human genbank 54_36p -1 validated missense c.6316 p.R2106G 1.000 NULL superfamily_WD40 repeat-like,HMMPfam_Sec39,PatternScan_RIBOSOMAL_S14 - no_errors NBAS 51594 genome.wustl.edu 36 2 15385836 15385836 + Missense_Mutation SNP G G C novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 2 15385836 15385836 G C SNP NBAS NM_015909 human genbank 54_36p -1 validated missense c.4399 p.L1467V 0.166 NULL superfamily_WD40 repeat-like,HMMPfam_Sec39,PatternScan_RIBOSOMAL_S14 - no_errors CYP4F2 8529 genome.wustl.edu 36 19 15861338 15861338 + Missense_Mutation SNP G G C novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 19 15861338 15861338 G C SNP CYP4F2 NM_001082 human genbank 54_36p -1 reviewed missense c.813 p.I271M 0.998 superfamily_Cytochrome_P450,HMMPfam_p450 superfamily_Cytochrome_P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450 - no_errors ABCC1 4363 genome.wustl.edu 36 16 16112822 16112822 + Silent SNP G G T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 16 16112822 16112822 G T SNP ABCC1 NM_004996 human genbank 54_36p +1 reviewed silent c.2961 p.V987 0.000 superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_PROTEIN_KINASE_ATP,PatternScan_ABC_TRANSPORTER_1 - no_errors LOC646057 0 genome.wustl.edu 36 15 18452913 18452913 + Missense_Mutation SNP C C G novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 15 18452913 18452913 C G SNP LOC646057 XM_001716562 human genbank 54_36p -1 model missense c.726 p.R242S 0.006 HMMSmart_SM00409 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406 - no_errors ALDH3A1 218 genome.wustl.edu 36 17 19582262 19582262 + Missense_Mutation SNP C T T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 17 19582262 19582262 C T SNP ALDH3A1 NM_000691 human genbank 54_36p -1 reviewed missense c.1313 p.G438D 0.000 NULL superfamily_ALDH-like,HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_GLU,PatternScan_ALDEHYDE_DEHYDR_CYS - no_errors RIN2 54453 genome.wustl.edu 36 20 19918881 19918881 + Missense_Mutation SNP A A G novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 20 19918881 19918881 A G SNP RIN2 NM_018993 human genbank 54_36p +1 reviewed missense c.1994 p.Y665C 1.000 superfamily_VPS9 domain (Pfam 02204),HMMSmart_SM00167,HMMPfam_VPS9 superfamily_SH2 domain,superfamily_VPS9 domain (Pfam 02204),HMMSmart_SM00167,HMMPfam_VPS9,HMMPfam_RA,HMMSmart_SM00314 - no_errors HIST1H2BI 8346 genome.wustl.edu 36 6 26381187 26381187 + Missense_Mutation SNP C C G novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 6 26381187 26381187 C G SNP HIST1H2BI NM_003525 human genbank 54_36p +1 reviewed missense c.5 p.P2R 1.000 NULL superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone,PatternScan_HISTONE_H2B - no_errors SKAP2 8935 genome.wustl.edu 36 7 26746040 26746040 + Missense_Mutation SNP G G A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 7 26746040 26746040 G A SNP SKAP2 NM_003930 human genbank 54_36p -1 reviewed missense c.376 p.R126C 1.000 superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_1 - no_errors ZKSCAN4 387032 genome.wustl.edu 36 6 28325468 28325468 + Missense_Mutation SNP C C G novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 6 28325468 28325468 C G SNP ZKSCAN4 NM_019110 human genbank 54_36p -1 provisional missense c.547 p.G183R 0.831 NULL HMMPfam_SCAN,HMMSmart_SCAN,superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors LOC729212 729212 genome.wustl.edu 36 22 29380496 29380496 + RNA SNP C C T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 22 29380496 29380496 C T SNP LOC729212 XR_015827 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene MECR 51102 genome.wustl.edu 36 1 29400530 29400530 + Missense_Mutation SNP C C G novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 1 29400530 29400530 C G SNP MECR ENST00000373792 human ensembl 54_36p -1 known missense c.580 p.V194L 0.000 NULL HMMPfam_ADH_N,superfamily_GroES-like - no_errors ALK 238 genome.wustl.edu 36 2 29608413 29608413 + Silent SNP A A G novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 2 29608413 29608413 A G SNP ALK NM_004304 human genbank 54_36p -1 reviewed silent c.1026 p.S342 0.995 NULL 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 IFNGR2 3460 genome.wustl.edu 36 21 33709117 33709117 + Silent SNP C C T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 21 33709117 33709117 C T SNP IFNGR2 NM_005534 human genbank 54_36p +1 reviewed silent c.126 p.N42 0.445 superfamily_Fibronectin type III superfamily_Fibronectin type III,HMMPfam_fn3 - no_errors DOPEY2 9980 genome.wustl.edu 36 21 36582239 36582239 + Missense_Mutation SNP T T G novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 21 36582239 36582239 T G SNP DOPEY2 NM_005128 human genbank 54_36p +1 validated missense c.6218 p.F2073C 1.000 NULL HMMPfam_Dopey_N - no_errors LOC400750 0 genome.wustl.edu 36 1 38948392 38948392 + RNA SNP A A G novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 1 38948392 38948392 A G SNP LOC400750 XR_039444 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene GOSR2 9570 genome.wustl.edu 36 17 42363539 42363539 + Missense_Mutation SNP A A G novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 17 42363539 42363539 A G SNP GOSR2 NM_054022 human genbank 54_36p +1 reviewed missense c.170 p.K57R 1.000 HMMPfam_V-SNARE HMMPfam_V-SNARE - no_errors FOXJ3 22887 genome.wustl.edu 36 1 42429752 42429752 + Missense_Mutation SNP G G A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 1 42429752 42429752 G A SNP FOXJ3 NM_014947 human genbank 54_36p -1 validated missense c.1160 p.P387L 0.988 NULL "HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors WDR65 149465 genome.wustl.edu 36 1 43448220 43448220 + Silent SNP C C T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 1 43448220 43448220 C T SNP WDR65 NM_152498 human genbank 54_36p +1 provisional silent c.1975 p.L659 0.000 NULL PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40 - no_errors C22orf9 23313 genome.wustl.edu 36 22 43980338 43980338 + Silent SNP C C T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 22 43980338 43980338 C T SNP C22orf9 NM_015264 human genbank 54_36p -1 validated silent c.351 p.K117 1.000 HMMPfam_DUF2045 HMMPfam_DUF2045 - no_errors LOC128192 128192 genome.wustl.edu 36 1 45226840 45226840 + Missense_Mutation SNP C C A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 1 45226840 45226840 C A SNP LOC128192 XM_060887 human genbank 54_36p -1 model missense c.145 p.G49C 0.998 superfamily_Cyclophilin-like,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1 superfamily_Cyclophilin-like,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1 - no_errors SULF2 55959 genome.wustl.edu 36 20 45728098 45728098 + Silent SNP G A A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 20 45728098 45728098 G A SNP SULF2 NM_018837 human genbank 54_36p -1 validated silent c.1812 p.Y604 1.000 superfamily_Alkaline phosphatase-like HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like,PatternScan_SULFATASE_1 - no_errors PEX16 9409 genome.wustl.edu 36 11 45892769 45892769 + Missense_Mutation SNP C C G novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 11 45892769 45892769 C G SNP PEX16 NM_057174 human genbank 54_36p -1 reviewed missense c.503 p.G168A 1.000 HMMPfam_Pex16 HMMPfam_Pex16 - no_errors CYP2B7P1 1556 genome.wustl.edu 36 19 46134247 46134247 + Missense_Mutation SNP G G A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 19 46134247 46134247 G A SNP CYP2B7P1 ENST00000330446 human ensembl 54_36p +1 known missense c.445 p.E149K 1.000 HMMPfam_p450,superfamily_Cytochrome_P450 HMMPfam_p450,superfamily_Cytochrome_P450 - no_errors SMAD4 4089 genome.wustl.edu 36 18 46840257 46840257 + Missense_Mutation SNP T T C novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 18 46840257 46840257 T C SNP SMAD4 NM_005359 human genbank 54_36p +1 validated missense c.928 p.F310L 1.000 superfamily_SMAD/FHA domain superfamily_SMAD MH1 domain,HMMSmart_SM00523,HMMPfam_MH1,superfamily_SMAD/FHA domain,HMMPfam_MH2,HMMSmart_SM00524 - no_errors ATL1 51062 genome.wustl.edu 36 14 50157081 50157081 + Missense_Mutation SNP T T C novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 14 50157081 50157081 T C SNP ATL1 NM_015915 human genbank 54_36p +1 reviewed missense c.877 p.F293L 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain - no_errors ST18 9705 genome.wustl.edu 36 8 53193480 53193480 + Nonsense_Mutation SNP C C A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 8 53193480 53193480 C A SNP ST18 NM_014682 human genbank 54_36p -1 validated nonsense c.2830 p.E944* 1.000 NULL superfamily_SSF103637,HMMPfam_zf-C2HC,HMMPfam_MYT1 - no_errors WNT5A 7474 genome.wustl.edu 36 3 55479364 55479364 + Silent SNP C C T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 3 55479364 55479364 C T SNP WNT5A NM_003392 human genbank 54_36p -1 reviewed silent c.939 p.E313 1.000 HMMPfam_wnt,HMMSmart_SM00097 HMMPfam_wnt,HMMSmart_SM00097,PatternScan_WNT1 - no_errors CCDC85A 114800 genome.wustl.edu 36 2 56464985 56464985 + Silent SNP A A T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 2 56464985 56464985 A T SNP CCDC85A NM_001080433 human genbank 54_36p +1 provisional silent c.1653 p.G551 1.000 NULL HMMPfam_DUF2216 - no_errors SERPINB2 5055 genome.wustl.edu 36 18 59721339 59721339 + Silent SNP C C T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 18 59721339 59721339 C T SNP SERPINB2 NM_002575 human genbank 54_36p +1 validated silent c.1068 p.H356 0.978 HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN,PatternScan_SERPIN - no_errors LILRP2 79166 genome.wustl.edu 36 19 59913263 59913263 + RNA SNP C C A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 19 59913263 59913263 C A SNP LILRP2 NR_003061 human genbank 54_36p +1 provisional rna NULL NULL 0.000 - - - pseudogene MNAT1 4331 genome.wustl.edu 36 14 60416306 60416306 + Missense_Mutation SNP G G C novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 14 60416306 60416306 G C SNP MNAT1 NM_002431 human genbank 54_36p +1 validated missense c.809 p.G270A 1.000 NULL superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_MAT1 - no_errors RAB3IL1 5866 genome.wustl.edu 36 11 61426543 61426543 + Missense_Mutation SNP G G A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 11 61426543 61426543 G A SNP RAB3IL1 NM_013401 human genbank 54_36p -1 provisional missense c.946 p.R316W 1.000 NULL HMMPfam_Sec2p - no_errors C20orf135 140701 genome.wustl.edu 36 20 61964018 61964018 + Silent SNP C T T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 20 61964018 61964018 C T SNP C20orf135 NM_080622 human genbank 54_36p +1 validated silent c.681 p.V227 0.999 superfamily_SSF53474,HMMPfam_Abhydrolase_1 superfamily_SSF53474,HMMPfam_Abhydrolase_1 - no_errors MTA2 9219 genome.wustl.edu 36 11 62119903 62119903 + Missense_Mutation SNP G G C novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 11 62119903 62119903 G C SNP MTA2 NM_004739 human genbank 54_36p -1 reviewed missense c.1151 p.P384R 1.000 superfamily_SSF57716,HMMSmart_ZnF_GATA,HMMPfam_GATA PatternScan_GATA_ZN_FINGER_1,HMMPfam_BAH,HMMSmart_BAH,HMMPfam_ELM2,HMMSmart_SANT,HMMPfam_Myb_DNA-binding,superfamily_SSF57716,HMMSmart_ZnF_GATA,HMMPfam_GATA - no_errors PACS1 55690 genome.wustl.edu 36 11 65740231 65740231 + Silent SNP T T C novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 11 65740231 65740231 T C SNP PACS1 NM_018026 human genbank 54_36p +1 reviewed silent c.726 p.S242 0.925 NULL HMMPfam_Pacs-1 - no_errors LEPR 3953 genome.wustl.edu 36 1 65808957 65808957 + Missense_Mutation SNP C C T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 1 65808957 65808957 C T SNP LEPR NM_002303 human genbank 54_36p +1 validated missense c.254 p.T85I 0.004 NULL superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_HEMATOPO_REC_S_F1,HMMPfam_Lep_receptor_Ig,PatternScan_HEMATOPO_REC_L_F2 - no_errors TYSND1 219743 genome.wustl.edu 36 10 71569811 71569811 + Silent SNP G G A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 10 71569811 71569811 G A SNP TYSND1 NM_173555 human genbank 54_36p -1 validated silent c.1576 p.L526 0.981 superfamily_Trypsin-like serine proteases superfamily_Trypsin-like serine proteases - no_errors E2F7 144455 genome.wustl.edu 36 12 75964204 75964204 + Missense_Mutation SNP C C T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 12 75964204 75964204 C T SNP E2F7 NM_203394 human genbank 54_36p -1 validated missense c.574 p.V192M 1.000 "superfamily_""Winged helix"" DNA-binding domain,HMMPfam_E2F_TDP" "superfamily_""Winged helix"" DNA-binding domain,HMMPfam_E2F_TDP" - no_errors TMEM30A 55754 genome.wustl.edu 36 6 76025860 76025860 + Missense_Mutation SNP C T T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 6 76025860 76025860 C T SNP TMEM30A NM_018247 human genbank 54_36p -1 validated missense c.608 p.G203D 1.000 HMMPfam_CDC50 HMMPfam_CDC50 - no_errors SEMA3A 10371 genome.wustl.edu 36 7 83428852 83428852 + Missense_Mutation SNP G G A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 7 83428852 83428852 G A SNP SEMA3A NM_006080 human genbank 54_36p -1 reviewed missense c.2087 p.T696I 0.998 NULL superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig - no_errors SLCO3A1 28232 genome.wustl.edu 36 15 90464780 90464780 + Missense_Mutation SNP T T C novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 15 90464780 90464780 T C SNP SLCO3A1 NM_013272 human genbank 54_36p +1 validated missense c.1091 p.V364A 1.000 superfamily_MFS general substrate transporter,HMMPfam_OATP superfamily_MFS general substrate transporter,HMMPfam_OATP,superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2 - no_errors ABCA4 24 genome.wustl.edu 36 1 94269947 94269947 + Missense_Mutation SNP C C T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 1 94269947 94269947 C T SNP ABCA4 NM_000350 human genbank 54_36p -1 reviewed missense c.4103 p.R1368H 0.862 NULL superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors CYP26A1 1592 genome.wustl.edu 36 10 94826879 94826879 + Missense_Mutation SNP G G C novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 10 94826879 94826879 G C SNP CYP26A1 NM_000783 human genbank 54_36p +1 reviewed missense c.1322 p.S441T 1.000 HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450 HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450 - no_errors PTBP2 58155 genome.wustl.edu 36 1 97007900 97007900 + Missense_Mutation SNP C C T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 1 97007900 97007900 C T SNP PTBP2 NM_021190 human genbank 54_36p +1 reviewed missense c.169 p.P57S 0.985 superfamily_RNA-binding domain RBD superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors TRRAP 8295 genome.wustl.edu 36 7 98333422 98333422 + Silent SNP A A C novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 7 98333422 98333422 A C SNP TRRAP NM_003496 human genbank 54_36p +1 validated silent c.630 p.R210 0.997 superfamily_ARM repeat superfamily_ARM repeat,PatternScan_COPPER_BLUE,superfamily_Protein prenylyltransferase,HMMPfam_FAT,superfamily_TPR-like,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FATC - no_errors RRP12 23223 genome.wustl.edu 36 10 99131212 99131212 + Missense_Mutation SNP C C T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 10 99131212 99131212 C T SNP RRP12 NM_015179 human genbank 54_36p -1 validated missense c.1339 p.V447M 1.000 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_NUC173 - no_errors DNMBP 23268 genome.wustl.edu 36 10 101633904 101633904 + Missense_Mutation SNP T T C novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 10 101633904 101633904 T C SNP DNMBP NM_015221 human genbank 54_36p -1 validated missense c.3851 p.Y1284C 1.000 superfamily_SH3-domain superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,HMMSmart_SM00721,HMMPfam_BAR - no_errors GPR128 84873 genome.wustl.edu 36 3 101834808 101834808 + Missense_Mutation SNP C C G novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 3 101834808 101834808 C G SNP GPR128 NM_032787 human genbank 54_36p +1 provisional missense c.344 p.P115R 0.258 NULL PatternScan_G_PROTEIN_RECEP_F2_2,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2 - no_errors RNF20 56254 genome.wustl.edu 36 9 103349601 103349601 + Missense_Mutation SNP A A C novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 9 103349601 103349601 A C SNP RNF20 NM_019592 human genbank 54_36p +1 reviewed missense c.1072 p.T358P 0.957 NULL superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1 - no_errors LONRF3 79836 genome.wustl.edu 36 X 118029929 118029929 + Silent SNP A A G novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 X 118029929 118029929 A G SNP LONRF3 NM_001031855 human genbank 54_36p +1 reviewed silent c.1776 p.R592 0.589 HMMPfam_LON,HMMSmart_SM00464 superfamily_TPR-like,HMMSmart_SM00028,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_TPR_1,HMMPfam_LON,HMMSmart_SM00464 - no_errors KIAA1210 57481 genome.wustl.edu 36 X 118105730 118105730 + Missense_Mutation SNP C C A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 X 118105730 118105730 C A SNP KIAA1210 NM_020721 human genbank 54_36p -1 validated missense c.3491 p.R1164M 0.000 NULL NULL - no_errors MCTS1 28985 genome.wustl.edu 36 X 119630111 119630111 + Missense_Mutation SNP A A T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 X 119630111 119630111 A T SNP MCTS1 NM_014060 human genbank 54_36p +1 validated missense c.510 p.L170F 1.000 superfamily_PUA domain-like,HMMPfam_PUA,HMMSmart_SM00359 superfamily_PUA domain-like,HMMPfam_PUA,HMMSmart_SM00359 - no_errors TMEM120B 0 genome.wustl.edu 36 12 120683998 120683998 + Silent SNP G G A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 12 120683998 120683998 G A SNP TMEM120B NM_001080825 human genbank 54_36p +1 validated silent c.522 p.R174 1.000 HMMPfam_TMPIT HMMPfam_TMPIT - no_errors KALRN 8997 genome.wustl.edu 36 3 125692924 125692924 + Missense_Mutation SNP G G A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 3 125692924 125692924 G A SNP KALRN NM_001024660 human genbank 54_36p +1 reviewed missense c.4646 p.G1549E 1.000 superfamily_PH domain-like,HMMSmart_SM00233,HMMPfam_PH 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,HMMSmart_SM00233,HMMPfam_PH,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors ACTBL3 0 genome.wustl.edu 36 2 132083451 132083451 + Missense_Mutation SNP G G A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 2 132083451 132083451 G A SNP ACTBL3 ENST00000397487 human ensembl 54_36p +1 known missense c.1036 p.E346K 0.039 NULL superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248 - no_stop_codon EYA4 2070 genome.wustl.edu 36 6 133809484 133809484 + Missense_Mutation SNP C C G novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 6 133809484 133809484 C G SNP EYA4 NM_004100 human genbank 54_36p +1 reviewed missense c.107 p.A36G 1.000 NULL HMMPfam_Hydrolase - no_errors LOC442727 442727 genome.wustl.edu 36 7 137739757 137739757 + RNA SNP G G A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 7 137739757 137739757 G A SNP LOC442727 XR_017503 human genbank 54_36p -1 model rna NULL NULL 0.940 - - - pseudogene MAGEC1 9947 genome.wustl.edu 36 X 140822602 140822602 + Missense_Mutation SNP G G T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 X 140822602 140822602 G T SNP MAGEC1 NM_005462 human genbank 54_36p +1 reviewed missense c.1746 p.Q582H 0.005 NULL HMMPfam_MAGE - no_errors TAS2R38 5726 genome.wustl.edu 36 7 141319638 141319638 + Silent SNP G G A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 7 141319638 141319638 G A SNP TAS2R38 NM_176817 human genbank 54_36p -1 validated silent c.321 p.L107 0.997 superfamily_SSF81321,HMMPfam_TAS2R superfamily_SSF81321,HMMPfam_TAS2R - no_errors PPP2R2B 5521 genome.wustl.edu 36 5 145952803 145952803 + Missense_Mutation SNP G G A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 5 145952803 145952803 G A SNP PPP2R2B NM_181676 human genbank 54_36p -1 reviewed missense c.985 p.R329C 1.000 superfamily_WD40 repeat-like HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_PP2A_B_N,PatternScan_PR55_1,HMMPfam_PP2A_B_subs_rcg,PatternScan_PR55_2,PatternScan_WD_REPEATS_1 - no_errors SELENBP1 8991 genome.wustl.edu 36 1 149606004 149606004 + Missense_Mutation SNP C C G novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 1 149606004 149606004 C G SNP SELENBP1 NM_003944 human genbank 54_36p -1 reviewed missense c.482 p.G161A 1.000 HMMPfam_SBP56,superfamily_Cyt_cd1_haem_C HMMPfam_SBP56,superfamily_Cyt_cd1_haem_C - no_errors S100A7A 338324 genome.wustl.edu 36 1 151658399 151658399 + Missense_Mutation SNP G G T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 1 151658399 151658399 G T SNP S100A7A NM_176823 human genbank 54_36p +1 validated missense c.296 p.G99V 0.000 superfamily_SSF47473 superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1 - no_errors PAXIP1 22976 genome.wustl.edu 36 7 154391599 154391599 + Silent SNP C T T rs61752011 unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 7 154391599 154391599 C T SNP PAXIP1 NM_007349 human genbank 54_36p -1 reviewed silent c.1245 p.P415 0.000 NULL superfamily_BRCT domain,HMMPfam_BRCT,HMMSmart_SM00292 - no_errors SPTA1 6708 genome.wustl.edu 36 1 156914890 156914890 + Missense_Mutation SNP C C G novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 1 156914890 156914890 C G SNP SPTA1 NM_003126 human genbank 54_36p -1 reviewed missense c.737 p.W246S 1.000 HMMPfam_Spectrin,superfamily_Spectrin repeat,HMMSmart_SM00150 superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_EF-hand,HMMPfam_efhand_Ca_insen - no_errors TAGAP 117289 genome.wustl.edu 36 6 159382385 159382385 + Missense_Mutation SNP C C G novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 6 159382385 159382385 C G SNP TAGAP NM_054114 human genbank 54_36p -1 reviewed missense c.466 p.V156L 0.861 superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP - no_errors GABRG2 2566 genome.wustl.edu 36 5 161463540 161463540 + Missense_Mutation SNP A A T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 5 161463540 161463540 A T SNP GABRG2 NM_198904 human genbank 54_36p +1 reviewed missense c.699 p.R233S 0.968 superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb - no_errors SCN3A 6328 genome.wustl.edu 36 2 165660281 165660281 + Missense_Mutation SNP G G T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 2 165660281 165660281 G T SNP SCN3A NM_006922 human genbank 54_36p -1 reviewed missense c.4417 p.Q1473K 1.000 superfamily_SSF81324 superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_IQ,HMMPfam_IQ - no_errors CPEB4 80315 genome.wustl.edu 36 5 173249928 173249928 + Missense_Mutation SNP C C A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 5 173249928 173249928 C A SNP CPEB4 NM_030627 human genbank 54_36p +1 validated missense c.586 p.P196T 1.000 NULL superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors TDRD5 163589 genome.wustl.edu 36 1 177886709 177886709 + Missense_Mutation SNP G G A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 1 177886709 177886709 G A SNP TDRD5 NM_173533 human genbank 54_36p +1 provisional missense c.1885 p.D629N 1.000 NULL HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT,HMMSmart_SM00333 - no_errors SENP2 59343 genome.wustl.edu 36 3 186806958 186806958 + Missense_Mutation SNP G G A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 3 186806958 186806958 G A SNP SENP2 NM_021627 human genbank 54_36p +1 validated missense c.596 p.R199H 1.000 NULL superfamily_SSF54001,HMMPfam_Peptidase_C48 - no_errors FAM171B 165215 genome.wustl.edu 36 2 187324130 187324130 + Missense_Mutation SNP C C G novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 2 187324130 187324130 C G SNP FAM171B NM_177454 human genbank 54_36p +1 validated missense c.749 p.P250R 1.000 HMMPfam_UPF0560 HMMPfam_UPF0560 - no_errors OPA1 4976 genome.wustl.edu 36 3 194863401 194863401 + Missense_Mutation SNP C C T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 3 194863401 194863401 C T SNP OPA1 NM_130837 human genbank 54_36p +1 reviewed missense c.2617 p.R873W 1.000 NULL HMMSmart_SM00053,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N - no_errors TNK2 10188 genome.wustl.edu 36 3 197099845 197099845 + Silent SNP C C T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 3 197099845 197099845 C T SNP TNK2 NM_001010938 human genbank 54_36p -1 reviewed silent c.201 p.E67 1.000 NULL superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,HMMPfam_GTPase_binding - no_errors KRT8P15 645834 genome.wustl.edu 36 2 203413514 203413514 + RNA SNP T T A novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 2 203413514 203413514 T A SNP KRT8P15 XR_016994 human genbank 54_36p -1 model rna NULL NULL 0.006 - - - pseudogene SCG2 7857 genome.wustl.edu 36 2 224170582 224170582 + Missense_Mutation SNP T T G novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 2 224170582 224170582 T G SNP SCG2 NM_003469 human genbank 54_36p -1 reviewed missense c.1663 p.S555R 0.743 HMMPfam_Granin HMMPfam_Granin,PatternScan_GRANINS_1 - no_errors TM4SF20 79853 genome.wustl.edu 36 2 227936715 227936715 + Missense_Mutation SNP C C T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 2 227936715 227936715 C T SNP TM4SF20 NM_024795 human genbank 54_36p -1 validated missense c.659 p.G220E 0.999 HMMPfam_L6_membrane HMMPfam_L6_membrane - no_errors ZP4 57829 genome.wustl.edu 36 1 236120022 236120022 + Missense_Mutation SNP C C T novel unknown TCGA-20-1683-01A-01W-0633-09 TCGA-20-1683-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3a2a29b1-e68e-45c0-b314-389dd1084b6c 131ac6ab-2fad-4fbd-aa6a-2df3e8c05364 1 236120022 236120022 C T SNP ZP4 NM_021186 human genbank 54_36p -1 reviewed missense c.253 p.V85M 0.000 NULL superfamily_Trefoil,HMMSmart_SM00018,HMMPfam_Trefoil,PatternScan_P_TREFOIL,HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1 - no_errors