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 FOXM1 2305 genome.wustl.edu 36 12 2851595 2851595 + Silent SNP T T G novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 12 2851595 2851595 T G SNP FOXM1 NM_202002 human genbank 54_36p -1 validated silent c.582 p.G194 0.350 NULL "HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors CCDC27 148870 genome.wustl.edu 36 1 3659155 3659155 + Missense_Mutation SNP A A G novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 1 3659155 3659155 A G SNP CCDC27 NM_152492 human genbank 54_36p +1 validated missense c.250 p.K84E 0.015 NULL NULL - no_errors ZNF594 84622 genome.wustl.edu 36 17 5026538 5026538 + Missense_Mutation SNP T T C novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 17 5026538 5026538 T C SNP ZNF594 NM_032530 human genbank 54_36p -1 validated missense c.1738 p.S580G 0.000 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors TP53 7157 genome.wustl.edu 36 17 7519167 7519167 + Missense_Mutation SNP T T C novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 17 7519167 7519167 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.488 p.Y163C 1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors FASTKD3 79072 genome.wustl.edu 36 5 7919095 7919095 + Silent SNP A A T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 5 7919095 7919095 A T SNP FASTKD3 NM_024091 human genbank 54_36p -1 validated silent c.1440 p.G480 0.161 NULL HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP - no_errors LDLR 3949 genome.wustl.edu 36 19 11074434 11074434 + Nonsense_Mutation SNP C C A novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 19 11074434 11074434 C A SNP LDLR NM_000527 human genbank 54_36p +1 reviewed nonsense c.285 p.C95* 0.921 superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1 superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b - no_errors C6orf105 84830 genome.wustl.edu 36 6 11831635 11831635 + Silent SNP G G A novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 6 11831635 11831635 G A SNP C6orf105 NM_032744 human genbank 54_36p -1 validated silent c.591 p.F197 0.985 HMMPfam_Far-17a_AIG1 HMMPfam_Far-17a_AIG1 - no_errors DHTKD1 55526 genome.wustl.edu 36 10 12202883 12202883 + Missense_Mutation SNP C C A novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 10 12202883 12202883 C A SNP DHTKD1 NM_018706 human genbank 54_36p +1 validated missense c.2750 p.T917N 1.000 NULL superfamily_Thiamin diphosphate-binding fold (THDP-binding),HMMPfam_E1_dh,HMMPfam_Transket_pyr - no_errors BOD1L 259282 genome.wustl.edu 36 4 13212500 13212500 + Missense_Mutation SNP C C G novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 4 13212500 13212500 C G SNP BOD1L NM_148894 human genbank 54_36p -1 validated missense c.5122 p.D1708H 0.047 superfamily_SSF81995 superfamily_SSF81995,HMMPfam_AT_hook,HMMSmart_AT_hook - no_errors UNC13A 23025 genome.wustl.edu 36 19 17598486 17598486 + Silent SNP G G A novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 19 17598486 17598486 G A SNP UNC13A NM_001080421 human genbank 54_36p -1 provisional silent c.4293 p.D1431 0.969 NULL superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD - no_errors LOC646090 646090 genome.wustl.edu 36 15 18717281 18717281 + RNA SNP C C G novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 15 18717281 18717281 C G SNP LOC646090 XR_017120 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene POTEB 339010 genome.wustl.edu 36 15 19324011 19324011 + Silent SNP T T C novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 15 19324011 19324011 T C SNP POTEB NM_207355 human genbank 54_36p -1 validated silent c.1089 p.K363 0.001 superfamily_Ankyrin repeat,HMMSmart_SM00248 superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248 - no_errors SLIT2 9353 genome.wustl.edu 36 4 20229548 20229548 + Missense_Mutation SNP G G T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 4 20229548 20229548 G T SNP SLIT2 NM_004787 human genbank 54_36p +1 provisional missense c.4408 p.A1470S 1.000 HMMSmart_SM00041 superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT,HMMSmart_SM00365,superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMSmart_SM00274,PatternScan_ASX_HYDROXYL,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00041,PatternScan_CTCK_1 - no_errors LRP10 26020 genome.wustl.edu 36 14 22414500 22414500 + Missense_Mutation SNP G G T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 14 22414500 22414500 G T SNP LRP10 NM_014045 human genbank 54_36p +1 validated missense c.503 p.G168V 0.910 HMMPfam_Ldl_recept_a,superfamily_LDL receptor-like module,HMMSmart_SM00192 superfamily_Spermadhesin CUB domain,HMMSmart_SM00042,HMMPfam_Ldl_recept_a,superfamily_LDL receptor-like module,HMMSmart_SM00192,HMMPfam_CUB,PatternScan_LDLRA_1 - no_errors LOXL2 4017 genome.wustl.edu 36 8 23230486 23230486 + Silent SNP C C T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 8 23230486 23230486 C T SNP LOXL2 NM_002318 human genbank 54_36p -1 reviewed silent c.1557 p.A519 0.316 superfamily_Srcr_receptor,HMMSmart_SR,HMMPfam_SRCR superfamily_Srcr_receptor,HMMSmart_SR,HMMPfam_SRCR,PatternScan_SRCR_1,HMMPfam_Lysyl_oxidase,PatternScan_LYSYL_OXIDASE - no_errors LRRC16B 90668 genome.wustl.edu 36 14 23596035 23596035 + Missense_Mutation SNP A A T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 14 23596035 23596035 A T SNP LRRC16B NM_138360 human genbank 54_36p +1 validated missense c.1024 p.S342C 1.000 superfamily_RNI-like,HMMSmart_SM00368 superfamily_RNI-like,HMMSmart_SM00368 - no_errors KIAA0100 9703 genome.wustl.edu 36 17 23989085 23989085 + Nonsense_Mutation SNP G G T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 17 23989085 23989085 G T SNP KIAA0100 NM_014680 human genbank 54_36p -1 validated nonsense c.1667 p.S556* 0.004 NULL HMMPfam_Mqo,HMMPfam_Fmp27_GFWDK,HMMPfam_Apt1 - no_errors GPR113 165082 genome.wustl.edu 36 2 26388053 26388053 + Missense_Mutation SNP C C T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 2 26388053 26388053 C T SNP GPR113 NM_153835 human genbank 54_36p -1 validated missense c.1450 p.G484S 0.002 NULL HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors MAP3K6 9064 genome.wustl.edu 36 1 27557307 27557307 + Missense_Mutation SNP G G C novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 1 27557307 27557307 G C SNP MAP3K6 NM_004672 human genbank 54_36p -1 reviewed missense c.2867 p.P956R 0.013 NULL HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_SAM/Pointed domain - no_errors LOC390557 0 genome.wustl.edu 36 15 28124252 28124252 + Missense_Mutation SNP G G T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 15 28124252 28124252 G T SNP LOC390557 XM_001726973 human genbank 54_36p +1 model missense c.212 p.G71V 0.994 HMMPfam_MARVEL HMMPfam_MARVEL - no_errors OR2J3 442186 genome.wustl.edu 36 6 29188406 29188406 + Missense_Mutation SNP T T A novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 6 29188406 29188406 T A SNP OR2J3 NM_001005216 human genbank 54_36p +1 validated missense c.760 p.F254I 0.502 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors GDF5 8200 genome.wustl.edu 36 20 33485514 33485514 + Silent SNP C C T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 20 33485514 33485514 C T SNP GDF5 NM_000557 human genbank 54_36p -1 reviewed silent c.1113 p.E371 0.990 NULL HMMPfam_TGFb_propeptide,superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1 - no_errors NRP1 8829 genome.wustl.edu 36 10 33523680 33523680 + Silent SNP G G C novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 10 33523680 33523680 G C SNP NRP1 ENST00000374828 human ensembl 54_36p -1 known silent c.228 p.L76 0.001 NULL NULL - no_errors ZBTB5 9925 genome.wustl.edu 36 9 37432075 37432075 + Silent SNP G G C novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 9 37432075 37432075 G C SNP ZBTB5 NM_014872 human genbank 54_36p -1 validated silent c.474 p.L158 0.970 NULL superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors BRCA1 672 genome.wustl.edu 36 17 38498676 38498676 + Nonsense_Mutation SNP T T A novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 17 38498676 38498676 T A SNP BRCA1 NM_007294 human genbank 54_36p -1 reviewed nonsense c.2398 p.K800* 0.001 NULL superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain - no_errors SLFNL1 200172 genome.wustl.edu 36 1 41258666 41258666 + Missense_Mutation SNP A A C novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 1 41258666 41258666 A C SNP SLFNL1 NM_144990 human genbank 54_36p -1 provisional missense c.254 p.V85G 0.986 NULL HMMPfam_AAA_4 - no_errors OXER1 165140 genome.wustl.edu 36 2 42844666 42844666 + Missense_Mutation SNP G G T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 2 42844666 42844666 G T SNP OXER1 NM_148962 human genbank 54_36p -1 validated missense c.158 p.S53Y 0.166 NULL superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors DYNC2LI1 51626 genome.wustl.edu 36 2 43876576 43876576 + Missense_Mutation SNP T T A novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 2 43876576 43876576 T A SNP DYNC2LI1 NM_016008 human genbank 54_36p +1 validated missense c.551 p.I184N 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors ZSWIM3 140831 genome.wustl.edu 36 20 43940574 43940574 + Missense_Mutation SNP A A T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 20 43940574 43940574 A T SNP ZSWIM3 NM_080752 human genbank 54_36p +1 validated missense c.1970 p.Q657L 0.269 NULL HMMPfam_MULE,HMMPfam_SWIM,HMMSmart_ZnF_PMZ - no_errors CROP 51747 genome.wustl.edu 36 17 46177087 46177087 + Missense_Mutation SNP G G C novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 17 46177087 46177087 G C SNP CROP NM_006107 human genbank 54_36p +1 reviewed missense c.607 p.D203H 1.000 HMMPfam_LUC7 HMMPfam_LUC7 - no_errors MAST2 23139 genome.wustl.edu 36 1 46274246 46274246 + Missense_Mutation SNP G G A novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 1 46274246 46274246 G A SNP MAST2 NM_015112 human genbank 54_36p +1 validated missense c.5318 p.R1773K 0.000 NULL HMMPfam_DUF1908,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Pkinase_C,superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_PDZ - no_errors DMRTC2 63946 genome.wustl.edu 36 19 47046564 47046564 + Missense_Mutation SNP C C A novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 19 47046564 47046564 C A SNP DMRTC2 NM_001040283 human genbank 54_36p +1 validated missense c.947 p.P316H 0.971 NULL superfamily_Cysteine-rich DNA binding domain (DM domain),HMMPfam_DM,HMMSmart_SM00301,PatternScan_DM_1 - no_errors PSG3 5671 genome.wustl.edu 36 19 47936327 47936327 + Missense_Mutation SNP C C T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 19 47936327 47936327 C T SNP PSG3 NM_021016 human genbank 54_36p -1 validated missense c.50 p.G17E 0.025 HMMPfam_V-set HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2 - no_errors FOXP3 50943 genome.wustl.edu 36 X 48997441 48997441 + Missense_Mutation SNP A A G novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 X 48997441 48997441 A G SNP FOXP3 NM_014009 human genbank 54_36p -1 reviewed missense c.848 p.V283A 0.002 NULL "PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors ATF7 11016 genome.wustl.edu 36 12 52211826 52211826 + Missense_Mutation SNP T T G novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 12 52211826 52211826 T G SNP ATF7 NM_006856 human genbank 54_36p -1 validated missense c.896 p.H299P 1.000 NULL superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,PatternScan_ATPASE_ALPHA_BETA,HMMPfam_bZIP_1,HMMSmart_BRLZ,PatternScan_BZIP_BASIC - no_errors UNC13C 440279 genome.wustl.edu 36 15 52703287 52703287 + Missense_Mutation SNP A A T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 15 52703287 52703287 A T SNP UNC13C NM_001080534 human genbank 54_36p +1 provisional missense c.6202 p.I2068F 0.997 superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD - no_errors LRP8 7804 genome.wustl.edu 36 1 53489042 53489042 + Missense_Mutation SNP C C G novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 1 53489042 53489042 C G SNP LRP8 NM_004631 human genbank 54_36p -1 reviewed missense c.2584 p.D862H 1.000 NULL superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,HMMSmart_SM00181,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b - no_errors OR4D1 26689 genome.wustl.edu 36 17 53588437 53588437 + Missense_Mutation SNP C C G novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 17 53588437 53588437 C G SNP OR4D1 NM_012374 human genbank 54_36p +1 provisional missense c.924 p.C308W 0.000 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ZNF532 55205 genome.wustl.edu 36 18 54738571 54738571 + Missense_Mutation SNP T T G novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 18 54738571 54738571 T G SNP ZNF532 NM_018181 human genbank 54_36p +1 validated missense c.2072 p.I691R 0.979 NULL HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors PCDH15 65217 genome.wustl.edu 36 10 55238464 55238464 + Silent SNP T T A novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 10 55238464 55238464 T A SNP PCDH15 ENST00000395445 human ensembl 54_36p -1 known silent c.5352 p.A1784 0.006 NULL HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin - no_errors LRP1 4035 genome.wustl.edu 36 12 55865195 55865195 + Nonsense_Mutation SNP C C T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 12 55865195 55865195 C T SNP LRP1 NM_002332 human genbank 54_36p +1 validated nonsense c.6403 p.R2135* 0.991 superfamily_YWTD domain superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b,PatternScan_EGF_1 - no_errors LOC645688 645688 genome.wustl.edu 36 17 55867753 55867753 + RNA SNP C C T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 17 55867753 55867753 C T SNP LOC645688 XR_017614 human genbank 54_36p -1 model rna NULL NULL 0.002 - - - pseudogene CDH7 1005 genome.wustl.edu 36 18 61662116 61662116 + Missense_Mutation SNP C C T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 18 61662116 61662116 C T SNP CDH7 NM_004361 human genbank 54_36p +1 reviewed missense c.1070 p.P357L 0.981 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C - no_errors SNX15 29907 genome.wustl.edu 36 11 64551642 64551642 + Missense_Mutation SNP G G T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 11 64551642 64551642 G T SNP SNX15 NM_013306 human genbank 54_36p +1 reviewed missense c.57 p.R19S 0.999 superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312 superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,HMMSmart_SM00745,HMMPfam_MIT - no_errors ZFYVE26 23503 genome.wustl.edu 36 14 67322644 67322644 + Missense_Mutation SNP G G A novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 14 67322644 67322644 G A SNP ZFYVE26 NM_015346 human genbank 54_36p -1 reviewed missense c.3079 p.L1027F 1.000 NULL PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger - no_errors DNAJC12 56521 genome.wustl.edu 36 10 69253141 69253141 + Missense_Mutation SNP C C G novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 10 69253141 69253141 C G SNP DNAJC12 NM_021800 human genbank 54_36p -1 reviewed missense c.94 p.A32P 0.998 superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ - no_errors SIRT1 23411 genome.wustl.edu 36 10 69317227 69317227 + Silent SNP C C T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 10 69317227 69317227 C T SNP SIRT1 NM_012238 human genbank 54_36p +1 validated silent c.477 p.S159 0.996 NULL superfamily_SSF52467,HMMPfam_SIR2 - no_errors CLEC18B 0 genome.wustl.edu 36 16 73009677 73009677 + Silent SNP G G A novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 16 73009677 73009677 G A SNP CLEC18B NM_001011880 human genbank 54_36p -1 validated silent c.237 p.A79 0.655 superfamily_PR-1-like,HMMSmart_SM00198,HMMPfam_SCP superfamily_PR-1-like,HMMSmart_SM00198,HMMPfam_SCP,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00034,superfamily_C-type lectin-like,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1 - no_errors DNAH17 8632 genome.wustl.edu 36 17 73958016 73958016 + Missense_Mutation SNP C C T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 17 73958016 73958016 C T SNP DNAH17 ENST00000300671 human ensembl 54_36p -1 known missense c.10940 p.R3647H 1.000 NULL HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,PatternScan_WD_REPEATS_1,HMMPfam_Dynein_heavy - no_errors ANGEL1 23357 genome.wustl.edu 36 14 76326728 76326728 + Missense_Mutation SNP A A G novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 14 76326728 76326728 A G SNP ANGEL1 NM_015305 human genbank 54_36p -1 validated missense c.1831 p.C611R 0.587 HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos - no_errors ARNT2 9915 genome.wustl.edu 36 15 78554438 78554438 + Silent SNP T T C novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 15 78554438 78554438 T C SNP ARNT2 NM_014862 human genbank 54_36p +1 reviewed silent c.441 p.D147 0.994 superfamily_HLH helix-loop-helix DNA-binding domain,HMMSmart_SM00091,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain) superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353,HMMSmart_SM00091,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS_3,HMMSmart_SM00086 - no_errors BNC1 646 genome.wustl.edu 36 15 81717643 81717643 + Missense_Mutation SNP G G T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 15 81717643 81717643 G T SNP BNC1 NM_001717 human genbank 54_36p -1 reviewed missense c.2540 p.S847Y 0.002 NULL HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors ALX1 8092 genome.wustl.edu 36 12 84201590 84201590 + Silent SNP G G A novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 12 84201590 84201590 G A SNP ALX1 NM_006982 human genbank 54_36p +1 reviewed silent c.336 p.E112 0.950 NULL superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_OAR - no_errors PEX11A 8800 genome.wustl.edu 36 15 88030667 88030667 + Missense_Mutation SNP T T A novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 15 88030667 88030667 T A SNP PEX11A NM_003847 human genbank 54_36p -1 provisional missense c.171 p.K57N 1.000 HMMPfam_PEX11 HMMPfam_PEX11 - no_errors WAPAL 23063 genome.wustl.edu 36 10 88267627 88267627 + Missense_Mutation SNP C C G novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 10 88267627 88267627 C G SNP WAPAL NM_015045 human genbank 54_36p -1 validated missense c.180 p.K60N 1.000 NULL superfamily_ARM repeat,HMMPfam_WAPL - no_errors HFM1 164045 genome.wustl.edu 36 1 91504253 91504253 + Splice_Site SNP C C T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 1 91504253 91504253 C T SNP HFM1 NM_001017975 human genbank 54_36p -1 validated splice_site c.3884-1 e35-1 0.997 - - - no_errors LOC401602 401602 genome.wustl.edu 36 X 92365092 92365092 + RNA SNP C C T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 X 92365092 92365092 C T SNP LOC401602 XR_016272 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene DCT 1638 genome.wustl.edu 36 13 93919262 93919262 + Missense_Mutation SNP C C A novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 13 93919262 93919262 C A SNP DCT NM_001922 human genbank 54_36p -1 validated missense c.334 p.G112C 1.000 superfamily_Di-copper_centre superfamily_Di-copper_centre,HMMPfam_Tyrosinase,PatternScan_TYROSINASE_1,PatternScan_TYROSINASE_2 - no_errors JMJD2D 55693 genome.wustl.edu 36 11 94371314 94371314 + Missense_Mutation SNP T T A novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 11 94371314 94371314 T A SNP JMJD2D NM_018039 human genbank 54_36p +1 validated missense c.1130 p.L377H 0.000 NULL HMMPfam_JmjN,HMMSmart_JmjC,HMMPfam_JmjC - no_errors ANKRD20B 729171 genome.wustl.edu 36 2 94858523 94858523 + RNA SNP C C T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 2 94858523 94858523 C T SNP ANKRD20B NR_003366 human genbank 54_36p -1 validated rna NULL NULL 0.001 - - - pseudogene BDKRB1 623 genome.wustl.edu 36 14 95800304 95800304 + Missense_Mutation SNP A A G novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 14 95800304 95800304 A G SNP BDKRB1 NM_000710 human genbank 54_36p +1 reviewed missense c.532 p.I178V 0.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors LOC643981 643981 genome.wustl.edu 36 10 97344819 97344819 + RNA SNP G G T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 10 97344819 97344819 G T SNP LOC643981 XR_016514 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene POP1 10940 genome.wustl.edu 36 8 99211535 99211535 + Missense_Mutation SNP A A G novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 8 99211535 99211535 A G SNP POP1 NM_015029 human genbank 54_36p +1 reviewed missense c.640 p.M214V 1.000 HMMPfam_POP1 HMMPfam_POP1,HMMPfam_POPLD - no_errors LOC728088 728088 genome.wustl.edu 36 13 99601021 99601021 + RNA SNP A A C novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 13 99601021 99601021 A C SNP LOC728088 XR_015354 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene VPS13B 157680 genome.wustl.edu 36 8 100202610 100202610 + Nonsense_Mutation SNP C C T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 8 100202610 100202610 C T SNP VPS13B NM_017890 human genbank 54_36p +1 reviewed nonsense c.967 p.Q323* 1.000 NULL PatternScan_ZINC_PROTEASE - no_errors C3orf26 84319 genome.wustl.edu 36 3 101369271 101369271 + Splice_Site SNP G G C novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 3 101369271 101369271 G C SNP C3orf26 NM_032359 human genbank 54_36p +1 predicted splice_site c.416-1 e6-1 1.000 - - - no_errors RELN 5649 genome.wustl.edu 36 7 103344778 103344778 + Missense_Mutation SNP C C T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 7 103344778 103344778 C T SNP RELN NM_005045 human genbank 54_36p -1 reviewed missense c.317 p.G106D 0.988 HMMPfam_Reeler HMMPfam_Reeler,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Sialidase - no_errors LOC643949 643949 genome.wustl.edu 36 11 107284359 107284359 + RNA SNP C T T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 11 107284359 107284359 C T SNP LOC643949 XR_016405 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene DOCK4 9732 genome.wustl.edu 36 7 111185984 111185984 + Missense_Mutation SNP G G T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 7 111185984 111185984 G T SNP DOCK4 NM_014705 human genbank 54_36p -1 reviewed missense c.4234 p.H1412N 1.000 NULL superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2 - no_errors ANAPC1 64682 genome.wustl.edu 36 2 112283187 112283187 + Missense_Mutation SNP C C A novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 2 112283187 112283187 C A SNP ANAPC1 NM_022662 human genbank 54_36p -1 validated missense c.3640 p.A1214S 1.000 NULL HMMPfam_PC_rep - no_errors ENSG00000163098 0 genome.wustl.edu 36 2 113327672 113327672 + Silent SNP A A G novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 2 113327672 113327672 A G SNP ENSG00000163098 ENST00000295249 human ensembl 54_36p +1 known silent c.174 p.L58 0.001 HMMPfam_BIR,HMMSmart_BIR,superfamily_SSF57924 HMMPfam_BIR,HMMSmart_BIR,superfamily_SSF57924 - no_errors FOXP2 93986 genome.wustl.edu 36 7 114089384 114089384 + Missense_Mutation SNP A A C novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 7 114089384 114089384 A C SNP FOXP2 NM_148898 human genbank 54_36p +1 reviewed missense c.1751 p.H584P 1.000 HMMSmart_FH,superfamily_SSF46785,HMMPfam_Fork_head HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_FH,superfamily_SSF46785,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2 - no_errors RFC5 5985 genome.wustl.edu 36 12 116953420 116953420 + Missense_Mutation SNP T T A novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 12 116953420 116953420 T A SNP RFC5 NM_007370 human genbank 54_36p +1 reviewed missense c.977 p.I326N 0.998 HMMPfam_Rep_fac_C,superfamily_Pol_clamp_load_C superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA,HMMPfam_Rep_fac_C,superfamily_Pol_clamp_load_C - no_errors C9orf126 286205 genome.wustl.edu 36 9 126773902 126773902 + Missense_Mutation SNP T T C novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 9 126773902 126773902 T C SNP C9orf126 NM_173690 human genbank 54_36p -1 validated missense c.1511 p.N504S 1.000 NULL NULL - no_errors ACAD11 84129 genome.wustl.edu 36 3 133820255 133820255 + Missense_Mutation SNP C C T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 3 133820255 133820255 C T SNP ACAD11 NM_032169 human genbank 54_36p -1 validated missense c.1327 p.G443R 0.999 superfamily_Acyl-CoA dehydrogenase NM domain-like,HMMPfam_Acyl-CoA_dh_N superfamily_Protein kinase-like (PK-like),HMMPfam_APH,PatternScan_PROTEIN_KINASE_TYR,superfamily_Acyl-CoA dehydrogenase NM domain-like,HMMPfam_Acyl-CoA_dh_N,HMMPfam_Acyl-CoA_dh_M,HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like - no_errors TG 7038 genome.wustl.edu 36 8 133952812 133952812 + Missense_Mutation SNP A A T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 8 133952812 133952812 A T SNP TG NM_003235 human genbank 54_36p +1 validated missense c.312 p.L104F 0.011 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 LCT 3938 genome.wustl.edu 36 2 136310907 136310907 + Missense_Mutation SNP G G C novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 2 136310907 136310907 G C SNP LCT NM_002299 human genbank 54_36p -1 reviewed missense c.303 p.S101R 0.079 superfamily_Glyco_hydro_cat superfamily_Glyco_hydro_cat,HMMPfam_Glyco_hydro_1,PatternScan_GLYCOSYL_HYDROL_F1_2,PatternScan_GLYCOSYL_HYDROL_F1_1 - no_errors DGKI 9162 genome.wustl.edu 36 7 136726534 136726534 + Missense_Mutation SNP C C A novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 7 136726534 136726534 C A SNP DGKI NM_004717 human genbank 54_36p -1 reviewed missense c.3170 p.G1057V 1.000 NULL PatternScan_ZF_DAG_PE_1,HMMSmart_C1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_DAGKc,HMMPfam_DAGK_acc,HMMSmart_DAGKa,superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK - no_errors CLSTN2 64084 genome.wustl.edu 36 3 141606170 141606170 + Missense_Mutation SNP C C T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 3 141606170 141606170 C T SNP CLSTN2 NM_022131 human genbank 54_36p +1 validated missense c.509 p.T170M 0.364 superfamily_Cadherin-like,HMMPfam_Cadherin superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases - no_errors uc009wky.1 0 genome.wustl.edu 36 1 147641729 147641729 + Missense_Mutation SNP C C G novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 1 147641729 147641729 C G SNP uc009wky.1 ENST00000369178 human ensembl 54_36p +1 known missense c.415 p.R139G 0.015 superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2 - no_errors TTC29 83894 genome.wustl.edu 36 4 147848104 147848104 + Silent SNP A A G novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 4 147848104 147848104 A G SNP TTC29 NM_031956 human genbank 54_36p -1 validated silent c.1380 p.R460 0.000 NULL superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028 - no_errors TM4SF4 7104 genome.wustl.edu 36 3 150676303 150676303 + Missense_Mutation SNP A A G novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 3 150676303 150676303 A G SNP TM4SF4 NM_004617 human genbank 54_36p +1 reviewed missense c.178 p.I60V 1.000 HMMPfam_L6_membrane HMMPfam_L6_membrane - no_errors HTR5A 3361 genome.wustl.edu 36 7 154493870 154493870 + Missense_Mutation SNP G G T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 7 154493870 154493870 G T SNP HTR5A NM_024012 human genbank 54_36p +1 reviewed missense c.328 p.G110C 1.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors BCAN 63827 genome.wustl.edu 36 1 154893461 154893461 + Missense_Mutation SNP G G C novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 1 154893461 154893461 G C SNP BCAN NM_021948 human genbank 54_36p +1 validated missense c.2158 p.G720R 0.986 superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C HMMPfam_V-set,HMMSmart_SM00409,superfamily_Immunoglobulin,HMMSmart_SM00406,PatternScan_IG_MHC,superfamily_C-type lectin-like,HMMSmart_SM00445,HMMPfam_Xlink,PatternScan_LINK_1,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - no_errors INSRR 3645 genome.wustl.edu 36 1 155082200 155082200 + Missense_Mutation SNP G G T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 1 155082200 155082200 G T SNP INSRR NM_014215 human genbank 54_36p -1 validated missense c.2009 p.P670Q 0.984 superfamily_FN_III-like,HMMSmart_FN3 superfamily_SSF52058,HMMPfam_Recep_L_domain,HMMPfam_Furin-like,superfamily_Grow_fac_recept,HMMSmart_FU,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_fn3,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II - no_errors ODZ2 57451 genome.wustl.edu 36 5 167607113 167607113 + Missense_Mutation SNP T T G novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 5 167607113 167607113 T G SNP ODZ2 ENST00000388903 human ensembl 54_36p +1 known missense c.6588 p.N2196K 1.000 NULL HMMPfam_Ten_N,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Carboxypeptidase regulatory domain,superfamily_NHL repeat,HMMPfam_NHL,HMMPfam_RHS_repeat - no_errors C1orf112 55732 genome.wustl.edu 36 1 168078263 168078263 + Missense_Mutation SNP G G A novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 1 168078263 168078263 G A SNP C1orf112 NM_018186 human genbank 54_36p +1 predicted missense c.1807 p.E603K 0.095 NULL NULL - no_errors STK10 6793 genome.wustl.edu 36 5 171453553 171453553 + Missense_Mutation SNP G G C novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 5 171453553 171453553 G C SNP STK10 NM_005990 human genbank 54_36p -1 reviewed missense c.1022 p.T341S 0.970 NULL superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors COL23A1 91522 genome.wustl.edu 36 5 177607157 177607157 + Silent SNP G G A novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 5 177607157 177607157 G A SNP COL23A1 NM_173465 human genbank 54_36p -1 validated silent c.1272 p.G424 1.000 HMMPfam_Collagen HMMPfam_Collagen - no_errors LOC728664 728664 genome.wustl.edu 36 2 178570282 178570282 + RNA SNP A A T novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 2 178570282 178570282 A T SNP LOC728664 XR_015711 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene MASP1 5648 genome.wustl.edu 36 3 188420588 188420588 + Missense_Mutation SNP C C G novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 3 188420588 188420588 C G SNP MASP1 NM_001879 human genbank 54_36p -1 reviewed missense c.2065 p.D689H 0.044 superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin HMMSmart_SM00042,HMMPfam_CUB,superfamily_Spermadhesin CUB domain,superfamily_EGF/Laminin,PatternScan_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors IL8RB 3579 genome.wustl.edu 36 2 218708004 218708004 + Missense_Mutation SNP G G A novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 2 218708004 218708004 G A SNP IL8RB NM_001557 human genbank 54_36p +1 reviewed missense c.235 p.G79S 0.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ACTA1 58 genome.wustl.edu 36 1 227635232 227635232 + Missense_Mutation SNP C C A novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 1 227635232 227635232 C A SNP ACTA1 NM_001100 human genbank 54_36p -1 reviewed missense c.148 p.G50C 1.000 superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268 superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_1,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_2 - no_errors DNAJB3 414061 genome.wustl.edu 36 2 234316960 234316960 + Silent SNP G G C novel unknown TCGA-30-1857-01A-02W-0639-09 TCGA-30-1857-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx cc2a574f-dc4d-42a8-9443-e9629c732e04 63bb87b6-b030-47ed-9e85-d7219ec8a137 2 234316960 234316960 G C SNP DNAJB3 NM_001001394 human genbank 54_36p -1 validated silent c.342 p.L114 1.000 superfamily_DnaJ_N superfamily_DnaJ_N,HMMSmart_DnaJ,HMMPfam_DnaJ,PatternScan_DNAJ_1 - no_errors