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 default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF AASDH 0 genome.wustl.edu 37 4 57215467 57215467 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 57215467 57215467 G A SNP AASDH ENST00000205214 human ensembl 74_37 -1 known missense c.2450 p.S817L 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 tier1 - - 34 0 0.00 21 4 15.38 ABCA13 0 genome.wustl.edu 37 7 48520703 48520703 + Nonsense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 7 48520703 48520703 C G SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known nonsense c.13046 p.S4349* 0.701 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 64 0 0.00 70 25 26.32 ABCC12 0 genome.wustl.edu 37 16 48117642 48117642 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 16 48117642 48117642 G T SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known missense c.4064 p.A1355E 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 tier1 - - 56 0 0.00 43 16 27.12 ACACB 0 genome.wustl.edu 37 12 109673410 109673410 + Splice_Site SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 109673410 109673410 G A SNP ACACB ENST00000338432 human ensembl 74_37 +1 known splice_site c.4405-1 e32-1 1.000 - - - no_errors ACACB HGNC ENSG00000076555 tier1 - - 88 0 0.00 82 8 8.89 ACTRT1 0 genome.wustl.edu 37 X 127185305 127185305 + Missense_Mutation SNP A A C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 X 127185305 127185305 A C SNP ACTRT1 ENST00000371124 human ensembl 74_37 -1 known missense c.881 p.L294R 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT1 HGNC ENSG00000123165 tier1 - - 26 0 0.00 17 14 45.16 ADAM2 0 genome.wustl.edu 37 8 39607208 39607208 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 39607208 39607208 G T SNP ADAM2 ENST00000265708 human ensembl 74_37 -1 known missense c.1853 p.T618N 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 22 0 0.00 54 4 6.90 ADAM20 0 genome.wustl.edu 37 14 70991384 70991384 + Missense_Mutation SNP C C A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 14 70991384 70991384 C A SNP ADAM20 ENST00000256389 human ensembl 74_37 -1 known missense c.241 p.A81S 0.006 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM20 HGNC ENSG00000134007 31 0 0.00 38 2 5.00 ADAM21 0 genome.wustl.edu 37 14 70925471 70925471 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 14 70925471 70925471 C G SNP ADAM21 ENST00000267499 human ensembl 74_37 +1 known missense c.1255 p.Q419E 0.986 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 tier1 - - 108 0 0.00 87 13 13.00 ADAMTS12 0 genome.wustl.edu 37 5 33549455 33549455 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 5 33549455 33549455 G T SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.4159 p.R1387S 0.996 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 54 0 0.00 46 3 6.12 ADH7 0 genome.wustl.edu 37 4 100334317 100334317 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 100334317 100334317 G T SNP ADH7 ENST00000209665 human ensembl 74_37 -1 known silent c.1149 p.V383 0.992 superfamily_GroES-like pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like - no_errors ADH7 HGNC ENSG00000196344 tier1 - - 38 0 0.00 45 4 8.16 ADPRHL1 0 genome.wustl.edu 37 13 114098801 114098801 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 13 114098801 114098801 G T SNP ADPRHL1 ENST00000375418 human ensembl 74_37 -1 known silent c.318 p.G106 1.000 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro - no_errors ADPRHL1 HGNC ENSG00000153531 tier1 - - 55 0 0.00 53 4 7.02 AGBL2 0 genome.wustl.edu 37 11 47688578 47688578 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 47688578 47688578 G T SNP AGBL2 ENST00000357610 human ensembl 74_37 -1 known missense c.2384 p.P795Q 0.001 NULL pfam_Peptidase_M14 - no_errors AGBL2 HGNC ENSG00000165923 23 0 0.00 33 4 10.81 AGBL5 0 genome.wustl.edu 37 2 27276293 27276293 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 27276293 27276293 G A SNP AGBL5 ENST00000360131 human ensembl 74_37 +1 known missense c.239 p.R80Q 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 tier1 - - 10 0 0.00 15 5 25.00 AGTPBP1 0 genome.wustl.edu 37 9 88292466 88292466 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 9 88292466 88292466 G T SNP AGTPBP1 ENST00000376109 human ensembl 74_37 -1 known silent c.477 p.T159 0.998 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 21 0 0.00 28 4 12.50 AK9 0 genome.wustl.edu 37 6 109935625 109935625 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 109935625 109935625 G T SNP AK9 ENST00000424296 human ensembl 74_37 -1 known missense c.1458 p.F486L 0.015 superfamily_P-loop_NTPase pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 tier1 - - 32 0 0.00 49 4 7.55 ALMS1P 0 genome.wustl.edu 37 2 73899496 73899496 + RNA SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 73899496 73899496 G C SNP ALMS1P ENST00000450720 human ensembl 74_37 +1 known rna NULL NULL 0.978 - - - no_errors ALMS1P HGNC ENSG00000163016 tier1 - - 26 0 0.00 32 4 11.11 ALPK2 0 genome.wustl.edu 37 18 56246602 56246602 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 18 56246602 56246602 G T SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known missense c.1406 p.T469N 0.993 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 tier1 - - 67 0 0.00 47 4 7.84 AMY2B 0 genome.wustl.edu 37 1 104113141 104113141 + RNA SNP A A G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 104113141 104113141 A G SNP AMY2B ENST00000491397 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AMY2B HGNC ENSG00000240038 tier1 - - 127 0 0.00 83 6 6.74 ANKRD18B 0 genome.wustl.edu 37 9 33541216 33541216 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 9 33541216 33541216 G C SNP ANKRD18B ENST00000290943 human ensembl 74_37 +1 known missense c.880 p.G294R 0.009 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD18B HGNC ENSG00000230453 tier1 rs111814125 - 30 0 0.00 32 6 15.79 ANLN 0 genome.wustl.edu 37 7 36447401 36447401 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 7 36447401 36447401 G T SNP ANLN ENST00000265748 human ensembl 74_37 +1 known missense c.932 p.G311V 0.198 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors ANLN HGNC ENSG00000011426 tier1 - - 45 0 0.00 74 5 6.33 ANXA10 0 genome.wustl.edu 37 4 169105799 169105799 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 169105799 169105799 G T SNP ANXA10 ENST00000359299 human ensembl 74_37 +1 known missense c.873 p.E291D 1.000 pfam_Annexin_repeat,smart_Annexin_repeat pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinX - no_errors ANXA10 HGNC ENSG00000109511 tier1 - - 70 0 0.00 63 6 8.70 APBA2 0 genome.wustl.edu 37 15 29346341 29346341 + Missense_Mutation SNP A A T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 29346341 29346341 A T SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known missense c.254 p.D85V 1.000 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 54 0 0.00 30 2 6.25 APCDD1 0 genome.wustl.edu 37 18 10488020 10488020 + Nonsense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 18 10488020 10488020 G A SNP APCDD1 ENST00000355285 human ensembl 74_37 +1 known nonsense c.1530 p.W510* 0.738 NULL NULL - no_errors APCDD1 HGNC ENSG00000154856 31 0 0.00 22 3 12.00 APOB 0 genome.wustl.edu 37 2 21238336 21238336 + Silent SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 21238336 21238336 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.3414 p.L1138 0.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 rs140456702 - 55 0 0.00 64 14 17.95 APOB 0 genome.wustl.edu 37 2 21251398 21251398 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 21251398 21251398 G T SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.1630 p.L544I 1.000 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 39 0 0.00 34 2 5.56 ARFGAP1 0 genome.wustl.edu 37 20 61915761 61915761 + RNA SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 20 61915761 61915761 G A SNP ARFGAP1 ENST00000468975 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ARFGAP1 HGNC ENSG00000101199 tier1 - - 49 0 0.00 36 9 20.00 ARHGEF38 0 genome.wustl.edu 37 4 106588313 106588313 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 106588313 106588313 C T SNP ARHGEF38 ENST00000420470 human ensembl 74_37 +1 putative missense c.1717 p.H573Y 1.000 superfamily_SH3_domain pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF38 HGNC ENSG00000236699 tier1 - - 37 0 0.00 33 8 19.51 ARL6IP6 0 genome.wustl.edu 37 2 153575184 153575184 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 153575184 153575184 G A SNP ARL6IP6 ENST00000326446 human ensembl 74_37 +1 known missense c.46 p.G16S 0.002 NULL NULL - no_errors ARL6IP6 HGNC ENSG00000177917 tier1 - - 62 0 0.00 41 9 18.00 ARMC4 0 genome.wustl.edu 37 10 28270509 28270509 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 10 28270509 28270509 G T SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known silent c.822 p.G274 0.288 superfamily_GSKIP_dom pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 25 0 0.00 33 3 8.33 ASAP1 0 genome.wustl.edu 37 8 131370359 131370359 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 131370359 131370359 G T SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.90 p.F30L 1.000 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 56 0 0.00 35 2 5.41 ASPM 0 genome.wustl.edu 37 1 197071323 197071323 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 197071323 197071323 C T SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.7058 p.R2353K 0.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 tier1 - - 49 0 0.00 40 22 35.48 ATP2B1 0 genome.wustl.edu 37 12 90010583 90010583 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 90010583 90010583 G T SNP ATP2B1 ENST00000261173 human ensembl 74_37 -1 known missense c.2063 p.P688H 1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B1 HGNC ENSG00000070961 31 0 0.00 45 3 6.25 ATP5A1 0 genome.wustl.edu 37 18 43675034 43675034 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 18 43675034 43675034 G T SNP ATP5A1 ENST00000282050 human ensembl 74_37 -1 known missense c.124 p.H42N 0.000 NULL pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_F1-cplx_asu - no_errors ATP5A1 HGNC ENSG00000152234 tier1 - - 40 0 0.00 57 15 20.83 ATP8A1 0 genome.wustl.edu 37 4 42505477 42505477 + Missense_Mutation SNP C C A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 42505477 42505477 C A SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known missense c.2141 p.G714V 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A1 HGNC ENSG00000124406 tier1 - - 52 0 0.00 53 7 11.67 B4GALT4 0 genome.wustl.edu 37 3 118948751 118948751 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 118948751 118948751 C T SNP B4GALT4 ENST00000359213 human ensembl 74_37 -1 known missense c.196 p.E66K 0.000 NULL pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT4 HGNC ENSG00000121578 tier1 - - 73 0 0.00 78 10 11.36 BAIAP3 0 genome.wustl.edu 37 16 1393012 1393012 + Silent SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 16 1393012 1393012 C G SNP BAIAP3 ENST00000324385 human ensembl 74_37 +1 known silent c.1365 p.A455 0.007 NULL pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors BAIAP3 HGNC ENSG00000007516 tier1 - - 56 0 0.00 26 9 25.71 BCL9 0 genome.wustl.edu 37 1 147086253 147086253 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 147086253 147086253 C T SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known missense c.398 p.S133F 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 tier1 - - 59 0 0.00 41 7 14.58 BCO2 0 genome.wustl.edu 37 11 112064319 112064319 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 112064319 112064319 G A SNP BCO2 ENST00000357685 human ensembl 74_37 +1 known missense c.416 p.R139Q 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCO2 HGNC ENSG00000197580 50 0 0.00 31 3 8.82 BDNF 0 genome.wustl.edu 37 11 27679710 27679710 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 27679710 27679710 G T SNP BDNF ENST00000438929 human ensembl 74_37 -1 known silent c.648 p.R216 1.000 pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor,prints_Nerve_growth_factor-rel - no_errors BDNF HGNC ENSG00000176697 47 0 0.00 34 2 5.56 BDP1 0 genome.wustl.edu 37 5 70782376 70782376 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 5 70782376 70782376 G C SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.1135 p.E379Q 1.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 tier1 - - 38 0 0.00 45 12 21.05 BEND5 0 genome.wustl.edu 37 1 49193621 49193621 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 49193621 49193621 G C SNP BEND5 ENST00000371833 human ensembl 74_37 -1 known missense c.1203 p.I401M 1.000 NULL pfam_BEN_domain - no_errors BEND5 HGNC ENSG00000162373 tier1 - - 71 0 0.00 49 9 15.52 BEST3 0 genome.wustl.edu 37 12 70048704 70048704 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 70048704 70048704 C G SNP BEST3 ENST00000330891 human ensembl 74_37 -1 known missense c.1990 p.E664Q 0.011 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 tier1 - - 56 0 0.00 53 5 8.62 BPTF 0 genome.wustl.edu 37 17 65960430 65960430 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 65960430 65960430 G T SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.8742 p.Q2914H 1.000 pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 tier1 - - 77 0 0.00 54 4 6.90 BRD9 0 genome.wustl.edu 37 5 889786 889786 + Missense_Mutation SNP T T A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 5 889786 889786 T A SNP BRD9 ENST00000323510 human ensembl 74_37 -1 known missense c.29 p.N10I 0.000 NULL pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD9 HGNC ENSG00000028310 tier1 - - 48 0 0.00 40 4 9.09 BZW1 0 genome.wustl.edu 37 2 201682946 201682946 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 201682946 201682946 G C SNP BZW1 ENST00000409600 human ensembl 74_37 +1 known missense c.649 p.E217Q 1.000 NULL pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW1 HGNC ENSG00000082153 tier1 - - 34 0 0.00 35 15 30.00 C10orf68 0 genome.wustl.edu 37 10 33140807 33140807 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 10 33140807 33140807 G C SNP C10orf68 ENST00000375025 human ensembl 74_37 +1 known missense c.1889 p.G630A 0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 tier1 - - 20 0 0.00 23 9 28.12 C14orf159 0 genome.wustl.edu 37 14 91681831 91681831 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 14 91681831 91681831 G T SNP C14orf159 ENST00000256324 human ensembl 74_37 +1 known missense c.1647 p.R549S 0.970 pirsf_UPF0317_mt pfam_DUF1445,pirsf_UPF0317_mt - no_errors C14orf159 HGNC ENSG00000133943 72 0 0.00 46 3 6.12 C19orf18 0 genome.wustl.edu 37 19 58472903 58472903 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 19 58472903 58472903 C G SNP C19orf18 ENST00000314391 human ensembl 74_37 -1 known missense c.388 p.E130Q 0.923 NULL NULL - no_errors C19orf18 HGNC ENSG00000177025 32 0 0.00 19 3 13.04 C1orf173 0 genome.wustl.edu 37 1 75112384 75112384 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 75112384 75112384 G T SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known silent c.210 p.A70 0.907 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 32 0 0.00 49 3 5.77 C22orf23 0 genome.wustl.edu 37 22 38343465 38343465 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 22 38343465 38343465 C G SNP C22orf23 ENST00000249079 human ensembl 74_37 -1 known missense c.172 p.D58H 0.310 pfam_UPF0193 pfam_UPF0193 - no_errors C22orf23 HGNC ENSG00000128346 62 0 0.00 35 4 10.26 C8orf76 0 genome.wustl.edu 37 8 124250109 124250109 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 124250109 124250109 G T SNP C8orf76 ENST00000276704 human ensembl 74_37 -1 known missense c.286 p.Q96K 1.000 NULL NULL - no_errors C8orf76 HGNC ENSG00000189376 tier1 - - 69 0 0.00 54 4 6.90 CA1 0 genome.wustl.edu 37 8 86240905 86240905 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 86240905 86240905 G T SNP CA1 ENST00000256119 human ensembl 74_37 -1 known missense c.670 p.L224M 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA1 HGNC ENSG00000133742 25 0 0.00 40 4 9.09 CA10 0 genome.wustl.edu 37 17 49710983 49710983 + Missense_Mutation SNP T T G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 49710983 49710983 T G SNP CA10 ENST00000340813 human ensembl 74_37 -1 known missense c.836 p.N279T 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA10 HGNC ENSG00000154975 tier1 - - 49 0 0.00 25 10 28.57 CACNA1C 0 genome.wustl.edu 37 12 2743482 2743482 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 2743482 2743482 G T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.3848 p.W1283L 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 tier1 - - 47 0 0.00 59 4 6.35 CALR 0 genome.wustl.edu 37 19 13054423 13054423 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 19 13054423 13054423 G A SNP CALR ENST00000316448 human ensembl 74_37 +1 known missense c.1033 p.E345K 1.000 pirsf_Calreticulin,superfamily_ConA-like_lec_gl_sf pirsf_Calreticulin,pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,prints_Calret/calnex - no_errors CALR HGNC ENSG00000179218 tier1 - - 43 0 0.00 28 8 22.22 CARD18 0 genome.wustl.edu 37 11 105009559 105009559 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 105009559 105009559 G A SNP CARD18 ENST00000530950 human ensembl 74_37 -1 known missense c.254 p.S85L 0.000 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD18 HGNC ENSG00000255501 71 0 0.00 51 5 8.93 CASP8AP2 0 genome.wustl.edu 37 6 90575968 90575968 + RNA SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 90575968 90575968 C G SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors CASP8AP2 HGNC ENSG00000118412 tier1 - - 20 0 0.00 12 9 42.86 CASP8AP2 0 genome.wustl.edu 37 6 90577632 90577632 + RNA SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 90577632 90577632 C G SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CASP8AP2 HGNC ENSG00000118412 tier1 - - 44 0 0.00 33 14 29.79 CASP8AP2 0 genome.wustl.edu 37 6 90578545 90578545 + RNA SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 90578545 90578545 C G SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.930 - - - no_errors CASP8AP2 HGNC ENSG00000118412 tier1 - - 15 0 0.00 14 6 30.00 CASZ1 0 genome.wustl.edu 37 1 10715781 10715781 + Silent SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 10715781 10715781 G A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known silent c.1590 p.S530 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 tier1 - - 53 0 0.00 43 4 8.16 CCDC141 0 genome.wustl.edu 37 2 179730512 179730512 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 179730512 179730512 C G SNP CCDC141 ENST00000420890 human ensembl 74_37 -1 known missense c.2706 p.M902I 0.000 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 tier1 - - 111 0 0.00 74 16 17.78 CCDC158 0 genome.wustl.edu 37 4 77305497 77305497 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 77305497 77305497 G T SNP CCDC158 ENST00000388914 human ensembl 74_37 -1 known missense c.470 p.A157D 1.000 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 24 0 0.00 30 3 9.09 CCDC163P 0 genome.wustl.edu 37 1 45963037 45963037 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 45963037 45963037 G T SNP CCDC163P ENST00000415578 human ensembl 74_37 -1 known missense c.196 p.P66T 0.000 NULL NULL - no_errors CCDC163P HGNC ENSG00000236624 tier1 - - 33 0 0.00 13 3 18.75 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36744698 36744698 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 13 36744698 36744698 G T SNP CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known silent c.1458 p.G486 0.569 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 tier1 - - 34 0 0.00 15 3 16.67 CCSAP 0 genome.wustl.edu 37 1 229460176 229460177 + RNA INS - - A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 229460176 229460177 - A INS CCSAP ENST00000483092 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.004 - - - no_errors CCSAP HGNC ENSG00000154429 tier1 10 0 0.00 18 16 47.06 CCT8L2 0 genome.wustl.edu 37 22 17072414 17072414 + Missense_Mutation SNP T T A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 22 17072414 17072414 T A SNP CCT8L2 ENST00000359963 human ensembl 74_37 -1 known missense c.1027 p.R343W 0.406 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 tier1 - - 63 0 0.00 39 11 22.00 CD46 0 genome.wustl.edu 37 1 207943509 207943509 + RNA SNP T T C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 207943509 207943509 T C SNP CD46 ENST00000469535 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors CD46 HGNC ENSG00000117335 tier1 - - 36 0 0.00 26 32 55.17 CD74 0 genome.wustl.edu 37 5 149792285 149792285 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 5 149792285 149792285 G C SNP CD74 ENST00000009530 human ensembl 74_37 -1 known missense c.28 p.R10G 0.000 NULL pfam_MHC_II-assoc_invar/CLIP_MHC-bd,pfam_MHC_II-assoc_invariant_trimer,pfam_Thyroglobulin_1,superfamily_MHC_II-assoc_invariant_trimer,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_MHC_II-assoc_invar_chain,pfscan_Thyroglobulin_1,prints_MHC_II-assoc_invar_chain - no_errors CD74 HGNC ENSG00000019582 tier1 - - 44 0 0.00 24 6 20.00 CDC25A 0 genome.wustl.edu 37 3 48222299 48222299 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 48222299 48222299 G T SNP CDC25A ENST00000302506 human ensembl 74_37 -1 known missense c.461 p.P154H 1.000 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25A HGNC ENSG00000164045 tier1 - - 32 0 0.00 15 3 16.67 CDC27 0 genome.wustl.edu 37 17 45219311 45219311 + Missense_Mutation SNP T T C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 45219311 45219311 T C SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known missense c.1477 p.I493V 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 tier1 rs140737545 - 27 0 0.00 43 8 15.69 CDC40 0 genome.wustl.edu 37 6 110534290 110534290 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 110534290 110534290 G T SNP CDC40 ENST00000307731 human ensembl 74_37 +1 known missense c.869 p.G290V 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC40 HGNC ENSG00000168438 67 0 0.00 65 4 5.80 CDC42BPA 0 genome.wustl.edu 37 1 227288919 227288919 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 227288919 227288919 G T SNP CDC42BPA ENST00000334218 human ensembl 74_37 -1 known missense c.2023 p.P675T 1.000 NULL pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPA HGNC ENSG00000143776 tier1 - - 43 0 0.00 74 8 9.76 CENPW 0 genome.wustl.edu 37 6 126667418 126667418 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 126667418 126667418 G T SNP CENPW ENST00000368325 human ensembl 74_37 +1 known missense c.239 p.S80I 0.954 NULL NULL - no_errors CENPW HGNC ENSG00000203760 20 0 0.00 34 3 8.11 CEP112 0 genome.wustl.edu 37 17 64026024 64026024 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 64026024 64026024 G T SNP CEP112 ENST00000392769 human ensembl 74_37 -1 known missense c.1336 p.Q446K 1.000 NULL superfamily_t-SNARE - no_errors CEP112 HGNC ENSG00000154240 40 0 0.00 50 3 5.66 CEP290 0 genome.wustl.edu 37 12 88524980 88524980 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 88524980 88524980 C T SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.457 p.E153K 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 tier1 - - 43 0 0.00 55 20 26.67 CHD6 0 genome.wustl.edu 37 20 40045236 40045236 + Missense_Mutation SNP T T C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 20 40045236 40045236 T C SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.6478 p.I2160V 0.940 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 tier1 - - 33 0 0.00 39 8 17.02 CHST1 0 genome.wustl.edu 37 11 45671711 45671711 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 45671711 45671711 G T SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known silent c.763 p.R255 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 46 0 0.00 31 2 6.06 CHUK 0 genome.wustl.edu 37 10 101967073 101967073 + Missense_Mutation SNP T T C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 10 101967073 101967073 T C SNP CHUK ENST00000370397 human ensembl 74_37 -1 known missense c.1145 p.Y382C 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors CHUK HGNC ENSG00000213341 13 0 0.00 17 7 29.17 CLASP2 0 genome.wustl.edu 37 3 33592770 33592770 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 33592770 33592770 C G SNP CLASP2 ENST00000399362 human ensembl 74_37 -1 known missense c.3148 p.E1050Q 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 tier1 - - 25 0 0.00 39 6 13.33 CLEC11A 0 genome.wustl.edu 37 19 51226822 51226822 + Missense_Mutation SNP C C A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 19 51226822 51226822 C A SNP CLEC11A ENST00000250340 human ensembl 74_37 +1 known missense c.40 p.Q14K 0.901 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC11A HGNC ENSG00000105472 tier1 - - 39 0 0.00 20 9 31.03 CLTCL1 0 genome.wustl.edu 37 22 19263189 19263189 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 22 19263189 19263189 C G SNP CLTCL1 ENST00000263200 human ensembl 74_37 -1 known missense c.207 p.E69D 0.986 superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 tier1 - - 40 0 0.00 38 4 9.52 CMYA5 0 genome.wustl.edu 37 5 79095325 79095325 + Silent SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 5 79095325 79095325 C T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known silent c.12096 p.F4032 0.995 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 42 0 0.00 47 19 28.79 CNGB3 0 genome.wustl.edu 37 8 87638285 87638285 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 87638285 87638285 G T SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.1504 p.L502I 0.886 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 tier1 - - 50 0 0.00 38 4 9.52 CNR1 0 genome.wustl.edu 37 6 88853810 88853810 + Missense_Mutation SNP A A T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 88853810 88853810 A T SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known missense c.1184 p.I395N 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 tier1 - - 24 0 0.00 22 5 18.52 COG1 0 genome.wustl.edu 37 17 71197644 71197644 + Missense_Mutation SNP T T C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 71197644 71197644 T C SNP COG1 ENST00000299886 human ensembl 74_37 +1 known missense c.1678 p.Y560H 0.027 NULL NULL - no_errors COG1 HGNC ENSG00000166685 tier1 - - 33 0 0.00 20 17 45.95 COG4 0 genome.wustl.edu 37 16 70551560 70551560 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 16 70551560 70551560 G T SNP COG4 ENST00000323786 human ensembl 74_37 -1 known missense c.338 p.S113Y 1.000 NULL pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC ENSG00000103051 16 0 0.00 24 3 11.11 COL24A1 0 genome.wustl.edu 37 1 86497581 86497581 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 86497581 86497581 G T SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.2029 p.P677T 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 tier1 - - 56 0 0.00 42 4 8.70 COL4A2 0 genome.wustl.edu 37 13 111102088 111102088 + Nonsense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 13 111102088 111102088 G T SNP COL4A2 ENST00000360467 human ensembl 74_37 +1 known nonsense c.1141 p.G381* 1.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 tier1 - - 28 0 0.00 33 4 10.81 COL6A3 0 genome.wustl.edu 37 2 238253225 238253225 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 238253225 238253225 G T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.7436 p.A2479D 0.004 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 33 0 0.00 22 4 15.38 COL6A5 0 genome.wustl.edu 37 3 130110053 130110053 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 130110053 130110053 G T SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known silent c.2448 p.V816 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 tier1 - - 34 0 0.00 75 4 5.06 CRY1 0 genome.wustl.edu 37 12 107391315 107391315 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 107391315 107391315 G T SNP CRY1 ENST00000008527 human ensembl 74_37 -1 known silent c.1443 p.I481 0.997 pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N - no_errors CRY1 HGNC ENSG00000008405 47 0 0.00 34 2 5.56 CSH1 0 genome.wustl.edu 37 17 61972411 61972411 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 61972411 61972411 G T SNP CSH1 ENST00000316193 human ensembl 74_37 -1 known missense c.625 p.R209S 1.000 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors CSH1 HGNC ENSG00000136488 136 0 0.00 102 6 5.56 CSMD3 0 genome.wustl.edu 37 8 113256737 113256737 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 113256737 113256737 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.10288 p.H3430Y 0.997 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 45 0 0.00 38 12 24.00 CSMD3 0 genome.wustl.edu 37 8 113504786 113504786 + Nonsense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 113504786 113504786 G T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known nonsense c.5210 p.S1737* 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 33 0 0.00 35 2 5.41 CTAGE9 0 genome.wustl.edu 37 6 132031038 132031038 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 132031038 132031038 C G SNP CTAGE9 ENST00000314099 human ensembl 74_37 -1 known missense c.1120 p.E374Q 0.684 NULL NULL - no_errors CTAGE9 HGNC ENSG00000236761 tier1 - - 54 0 0.00 44 15 25.42 CTSL 0 genome.wustl.edu 37 9 90344621 90344621 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 9 90344621 90344621 G T SNP CTSL ENST00000340342 human ensembl 74_37 +1 known missense c.755 p.G252V 0.011 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSL HGNC ENSG00000135047 tier1 - - 34 0 0.00 15 19 55.88 CYBB 0 genome.wustl.edu 37 X 37655246 37655246 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 X 37655246 37655246 G T SNP CYBB ENST00000378588 human ensembl 74_37 +1 known missense c.526 p.G176C 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors CYBB HGNC ENSG00000165168 tier1 - - 39 0 0.00 27 4 12.90 DAG1 0 genome.wustl.edu 37 3 49569266 49569268 + In_Frame_Del DEL CCA CCA - TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 CCA CCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 49569266 49569268 CCA - DEL DAG1 ENST00000308775 human ensembl 74_37 +1 known in_frame_del c.1322_1324 p.T445in_frame_del 0.969:0.477:0.479 NULL pfam_DAG1,superfamily_Alpha-dystroglycan_domain_2,superfamily_Cadherin-like,smart_Cadg - no_errors DAG1 HGNC ENSG00000173402 tier1 53 0 0.00 28 3 9.68 DCAF11 0 genome.wustl.edu 37 14 24584027 24584027 + RNA SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 14 24584027 24584027 C T SNP DCAF11 ENST00000557809 human ensembl 74_37 +1 known rna NULL NULL 0.618 - - - no_errors DCAF11 HGNC ENSG00000100897 tier1 - - 39 0 0.00 27 11 28.21 DCLK2 0 genome.wustl.edu 37 4 151153530 151153530 + Silent SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 151153530 151153530 G A SNP DCLK2 ENST00000302176 human ensembl 74_37 +1 known silent c.1392 p.V464 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK2 HGNC ENSG00000170390 tier1 - - 52 0 0.00 28 7 19.44 DCTN4 0 genome.wustl.edu 37 5 150095155 150095155 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 5 150095155 150095155 C T SNP DCTN4 ENST00000446090 human ensembl 74_37 -1 known missense c.1162 p.E388K 1.000 pfam_Dynactin_p62 pfam_Dynactin_p62 - no_errors DCTN4 HGNC ENSG00000132912 tier1 - - 68 0 0.00 51 7 12.07 DDX39A 0 genome.wustl.edu 37 19 14522366 14522366 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 19 14522366 14522366 C G SNP DDX39A ENST00000242776 human ensembl 74_37 -1 known missense c.381 p.Q127H 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX39A HGNC ENSG00000123136 tier1 - - 75 0 0.00 46 13 22.03 DDX51 0 genome.wustl.edu 37 12 132625429 132625429 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 132625429 132625429 C T SNP DDX51 ENST00000397333 human ensembl 74_37 -1 known missense c.1387 p.D463N 0.004 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX51 HGNC ENSG00000185163 tier1 - - 39 0 0.00 29 14 32.56 DDX52 0 genome.wustl.edu 37 17 36002238 36002238 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 36002238 36002238 G T SNP DDX52 ENST00000349699 human ensembl 74_37 -1 known missense c.187 p.Q63K 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX52 HGNC ENSG00000141141 tier1 - - 58 0 0.00 74 5 6.33 DDX56 0 genome.wustl.edu 37 7 44613437 44613437 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 7 44613437 44613437 G C SNP DDX56 ENST00000258772 human ensembl 74_37 -1 known missense c.58 p.Q20E 1.000 superfamily_P-loop_NTPase,pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX56 HGNC ENSG00000136271 tier1 - - 29 0 0.00 22 5 18.52 DDX60L 0 genome.wustl.edu 37 4 169377190 169377190 + Missense_Mutation SNP T T A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 169377190 169377190 T A SNP DDX60L ENST00000260184 human ensembl 74_37 -1 known missense c.837 p.L279F 0.006 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60L HGNC ENSG00000181381 tier1 - - 26 0 0.00 18 11 37.93 DGCR2 0 genome.wustl.edu 37 22 19028769 19028769 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 22 19028769 19028769 C G SNP DGCR2 ENST00000263196 human ensembl 74_37 -1 known missense c.1198 p.D400H 1.000 NULL pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin - no_errors DGCR2 HGNC ENSG00000070413 tier1 - - 37 0 0.00 27 8 22.86 DGKA 0 genome.wustl.edu 37 12 56347520 56347520 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 56347520 56347520 C T SNP DGKA ENST00000331886 human ensembl 74_37 +1 known missense c.2176 p.R726C 0.975 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKA HGNC ENSG00000065357 tier1 - - 35 0 0.00 27 8 22.86 DHX32 0 genome.wustl.edu 37 10 127542725 127542725 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 10 127542725 127542725 G T SNP DHX32 ENST00000284690 human ensembl 74_37 -1 known missense c.897 p.N299K 0.263 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DHX32 HGNC ENSG00000089876 43 0 0.00 69 4 5.48 DICER1 0 genome.wustl.edu 37 14 95570212 95570212 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 14 95570212 95570212 G T SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known missense c.3521 p.A1174E 1.000 NULL pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 tier1 - - 30 0 0.00 45 4 8.16 DIP2B 0 genome.wustl.edu 37 12 51135289 51135289 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 51135289 51135289 C T SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known missense c.4445 p.S1482L 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 tier1 - - 51 0 0.00 57 11 16.18 DIS3 0 genome.wustl.edu 37 13 73335787 73335787 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 13 73335787 73335787 G T SNP DIS3 ENST00000377767 human ensembl 74_37 -1 known silent c.2508 p.T836 0.674 NULL smart_PIN_dom - no_errors DIS3 HGNC ENSG00000083520 tier1 - - 60 0 0.00 59 4 6.35 DNAH10 0 genome.wustl.edu 37 12 124298415 124298415 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 124298415 124298415 G T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.3382 p.D1128Y 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 56 0 0.00 53 4 7.02 DNAH3 0 genome.wustl.edu 37 16 20966359 20966359 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 16 20966359 20966359 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.10847 p.P3616L 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 23 0 0.00 12 6 33.33 DNAH6 0 genome.wustl.edu 37 2 84864352 84864352 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 84864352 84864352 G C SNP DNAH6 ENST00000237449 human ensembl 74_37 +1 known missense c.4672 p.E1558Q 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 tier1 - - 22 0 0.00 16 9 36.00 DNAH8 0 genome.wustl.edu 37 6 38919237 38919237 + Missense_Mutation SNP T T G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 38919237 38919237 T G SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.11741 p.L3914R 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 tier1 - - 25 0 0.00 24 8 25.00 DNAH9 0 genome.wustl.edu 37 17 11809063 11809063 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 11809063 11809063 G T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.11686 p.A3896S 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 55 0 0.00 36 2 5.26 DNAJB4 0 genome.wustl.edu 37 1 78470892 78470892 + Missense_Mutation SNP C C A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 78470892 78470892 C A SNP DNAJB4 ENST00000370763 human ensembl 74_37 +1 known missense c.98 p.P33Q 0.997 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB4 HGNC ENSG00000162616 40 0 0.00 36 2 5.26 DNAJC11 0 genome.wustl.edu 37 1 6704700 6704700 + Missense_Mutation SNP C C A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 6704700 6704700 C A SNP DNAJC11 ENST00000377577 human ensembl 74_37 -1 known missense c.1015 p.A339S 1.000 NULL pfam_DnaJ-like_C11_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC11 HGNC ENSG00000007923 tier1 - - 22 0 0.00 19 6 24.00 DNAJC24 0 genome.wustl.edu 37 11 31447855 31447855 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 31447855 31447855 G T SNP DNAJC24 ENST00000465995 human ensembl 74_37 +1 known missense c.272 p.G91V 1.000 NULL pfam_DnaJ_domain,pfam_Znf_DHP,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_Znf_DHP,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC24 HGNC ENSG00000170946 tier1 - - 26 0 0.00 19 12 38.71 DNAJC6 0 genome.wustl.edu 37 1 65878634 65878634 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 65878634 65878634 G T SNP DNAJC6 ENST00000371069 human ensembl 74_37 +1 known missense c.2839 p.A947S 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors DNAJC6 HGNC ENSG00000116675 tier1 - - 60 0 0.00 60 5 7.58 DOPEY2 0 genome.wustl.edu 37 21 37597889 37597889 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 21 37597889 37597889 G T SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known missense c.1397 p.R466M 0.002 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 tier1 - - 68 0 0.00 46 4 8.00 DPP10 0 genome.wustl.edu 37 2 116535403 116535403 + Missense_Mutation SNP C C A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 116535403 116535403 C A SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.1366 p.L456M 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 40 0 0.00 38 2 5.00 DPYS 0 genome.wustl.edu 37 8 105456626 105456626 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 105456626 105456626 C T SNP DPYS ENST00000351513 human ensembl 74_37 -1 known missense c.643 p.E215K 1.000 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYS HGNC ENSG00000147647 tier1 - - 42 0 0.00 13 6 31.58 DSN1 0 genome.wustl.edu 37 20 35381135 35381135 + RNA SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 20 35381135 35381135 G T SNP DSN1 ENST00000473615 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors DSN1 HGNC ENSG00000149636 tier1 - - 32 0 0.00 22 4 15.38 DST 0 genome.wustl.edu 37 6 56329512 56329512 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 56329512 56329512 G C SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.22637 p.S7546C 1.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 43 0 0.00 41 10 19.61 DTX3L 0 genome.wustl.edu 37 3 122284880 122284880 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 122284880 122284880 G T SNP DTX3L ENST00000296161 human ensembl 74_37 +1 known missense c.362 p.G121V 0.001 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3L HGNC ENSG00000163840 25 0 0.00 54 5 8.47 DYRK4 0 genome.wustl.edu 37 12 4714126 4714126 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 4714126 4714126 C G SNP DYRK4 ENST00000010132 human ensembl 74_37 +1 known missense c.828 p.I276M 0.991 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK4 HGNC ENSG00000010219 tier1 - - 41 0 0.00 35 14 28.57 EBF1 0 genome.wustl.edu 37 5 158158109 158158109 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 5 158158109 158158109 G C SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known missense c.1093 p.R365G 0.962 superfamily_bHLH_dom pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 tier1 - - 25 0 0.00 21 12 36.36 ECM2 0 genome.wustl.edu 37 9 95263118 95263118 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 9 95263118 95263118 G T SNP ECM2 ENST00000344604 human ensembl 74_37 -1 known missense c.1822 p.H608N 0.997 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C - no_errors ECM2 HGNC ENSG00000106823 tier1 - - 51 0 0.00 58 5 7.94 EFCAB3 0 genome.wustl.edu 37 17 60493371 60493371 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 60493371 60493371 G T SNP EFCAB3 ENST00000450662 human ensembl 74_37 +1 known missense c.1154 p.R385I 1.000 NULL pfscan_EF_hand_dom - no_errors EFCAB3 HGNC ENSG00000172421 39 0 0.00 48 3 5.88 EMC1 0 genome.wustl.edu 37 1 19559457 19559457 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 19559457 19559457 C G SNP EMC1 ENST00000477853 human ensembl 74_37 -1 known missense c.1605 p.M535I 1.000 NULL pfam_DUF1620,superfamily_Quinonprotein_ADH-like_supfam - no_errors EMC1 HGNC ENSG00000127463 tier1 - - 106 0 0.00 75 19 20.21 EML6 0 genome.wustl.edu 37 2 55122100 55122100 + Missense_Mutation SNP A A G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 55122100 55122100 A G SNP EML6 ENST00000356458 human ensembl 74_37 +1 novel missense c.2791 p.M931V 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 tier1 - - 51 0 0.00 49 44 47.31 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65454 65454 + Silent SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 GL000212.1 65454 65454 G A SNP ENSG00000212857 ENST00000391545 human ensembl 74_37 +1 known silent c.1203 p.R401 NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 tier1 - - 48 0 0.00 38 8 17.39 ENSG00000229729 0 genome.wustl.edu 37 3 88135509 88135509 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 88135509 88135509 G T SNP ENSG00000229729 ENST00000473136 human ensembl 74_37 +1 putative missense c.289 p.D97Y 1.000 NULL NULL - no_errors RP11-159G9.5 Clone_based_vega_gene ENSG00000229729 tier1 - - 50 0 0.00 48 4 7.69 ENSG00000232113 0 genome.wustl.edu 37 1 173604925 173604925 + RNA SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 173604925 173604925 G A SNP ENSG00000232113 ENST00000417563 human ensembl 74_37 +1 known rna NULL NULL 0.976 - - - no_errors RP11-360D2.1 Clone_based_vega_gene ENSG00000232113 tier1 - - 53 0 0.00 48 39 44.83 ENSG00000233175 0 genome.wustl.edu 37 17 43316271 43316271 + RNA SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 43316271 43316271 G C SNP ENSG00000233175 ENST00000587534 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2020K17.3 Clone_based_vega_gene ENSG00000233175 tier1 - - 51 0 0.00 30 15 33.33 ENSG00000242902 0 genome.wustl.edu 37 7 128502673 128502673 + RNA SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 7 128502673 128502673 G C SNP ENSG00000242902 ENST00000469965 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-309L24.2 Clone_based_vega_gene ENSG00000242902 9 0 0.00 5 3 37.50 ENSG00000247287 0 genome.wustl.edu 37 14 61789324 61789324 + RNA SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 14 61789324 61789324 C G SNP ENSG00000247287 ENST00000500036 human ensembl 74_37 -1 known rna NULL NULL 0.736 - - - no_errors RP11-902B17.1 Clone_based_vega_gene ENSG00000247287 tier1 - - 83 0 0.00 45 4 8.16 EPHB1 0 genome.wustl.edu 37 3 134880869 134880869 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 134880869 134880869 G C SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.1432 p.E478Q 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 tier1 - - 48 0 0.00 73 11 13.10 EPS15L1 0 genome.wustl.edu 37 19 16552786 16552786 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 19 16552786 16552786 G T SNP EPS15L1 ENST00000455140 human ensembl 74_37 -1 known missense c.82 p.P28T 1.000 smart_EPS15_homology,pfscan_EPS15_homology superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15L1 HGNC ENSG00000127527 tier1 - - 31 0 0.00 33 5 13.16 EPS8L2 0 genome.wustl.edu 37 11 721938 721938 + Nonsense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 721938 721938 G T SNP EPS8L2 ENST00000318562 human ensembl 74_37 +1 known nonsense c.931 p.E311* 0.996 NULL pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors EPS8L2 HGNC ENSG00000177106 tier1 - - 46 0 0.00 34 5 12.82 ERCC6L2 0 genome.wustl.edu 37 9 98729010 98729010 + RNA SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 9 98729010 98729010 C T SNP ERCC6L2 ENST00000466840 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ERCC6L2 HGNC ENSG00000182150 tier1 - - 77 0 0.00 33 15 31.25 ERVMER34-1 0 genome.wustl.edu 37 4 53610238 53610238 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 53610238 53610238 C T SNP ERVMER34-1 ENST00000440542 human ensembl 74_37 -1 known missense c.1450 p.G484R 0.000 pfam_TLV/ENV_coat_polyprotein pfam_TLV/ENV_coat_polyprotein - no_errors ERVMER34-1 HGNC ENSG00000226887 34 0 0.00 36 3 7.69 ESR1 0 genome.wustl.edu 37 6 152415668 152415668 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 152415668 152415668 G T SNP ESR1 ENST00000206249 human ensembl 74_37 +1 known missense c.1518 p.Q506H 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR1 HGNC ENSG00000091831 tier1 - - 60 0 0.00 26 4 13.33 ESRP1 0 genome.wustl.edu 37 8 95718708 95718708 + RNA SNP T T G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 95718708 95718708 T G SNP ESRP1 ENST00000523347 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ESRP1 HGNC ENSG00000104413 tier1 - - 10 0 0.00 6 6 50.00 ETV1 0 genome.wustl.edu 37 7 13950874 13950874 + Silent SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 7 13950874 13950874 G A SNP ETV1 ENST00000405218 human ensembl 74_37 -1 known silent c.861 p.S287 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV1 HGNC ENSG00000006468 tier1 - - 32 0 0.00 34 4 10.53 EWSR1 0 genome.wustl.edu 37 22 29684675 29684675 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 22 29684675 29684675 C T SNP EWSR1 ENST00000414183 human ensembl 74_37 +1 known missense c.892 p.R298W 1.000 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors EWSR1 HGNC ENSG00000182944 tier1 - - 80 0 0.00 61 4 6.15 EYS 0 genome.wustl.edu 37 6 65300411 65300411 + Missense_Mutation SNP A A C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 65300411 65300411 A C SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.5349 p.D1783E 0.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 18 0 0.00 19 4 17.39 FABP3 0 genome.wustl.edu 37 1 31842415 31842415 + RNA SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 31842415 31842415 G T SNP FABP3 ENST00000497275 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FABP3 HGNC ENSG00000121769 tier1 - - 70 0 0.00 46 4 8.00 FAM133A 0 genome.wustl.edu 37 X 92964880 92964880 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 X 92964880 92964880 G T SNP FAM133A ENST00000322139 human ensembl 74_37 +1 known missense c.462 p.K154N 0.386 NULL NULL - no_errors FAM133A HGNC ENSG00000179083 tier1 - - 26 0 0.00 16 16 50.00 FAM149B1 0 genome.wustl.edu 37 10 74968483 74968483 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 10 74968483 74968483 G T SNP FAM149B1 ENST00000242505 human ensembl 74_37 +1 known missense c.649 p.D217Y 1.000 NULL pfam_DUF3719 - no_errors FAM149B1 HGNC ENSG00000138286 tier1 - - 64 0 0.00 75 4 5.00 FAM198B 0 genome.wustl.edu 37 4 159092457 159092457 + Missense_Mutation SNP C C A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 159092457 159092457 C A SNP FAM198B ENST00000393807 human ensembl 74_37 -1 known missense c.71 p.R24L 0.000 NULL NULL - no_errors FAM198B HGNC ENSG00000164125 tier1 - - 20 0 0.00 11 10 45.45 FAM92A1 0 genome.wustl.edu 37 8 94738686 94738686 + Nonsense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 94738686 94738686 C G SNP FAM92A1 ENST00000518322 human ensembl 74_37 +1 known nonsense c.722 p.S241* 1.000 NULL pfam_FAM92 - no_errors FAM92A1 HGNC ENSG00000188343 tier1 - - 63 0 0.00 39 17 30.36 FAM95B1 0 genome.wustl.edu 37 9 42472104 42472104 + RNA SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 9 42472104 42472104 C T SNP FAM95B1 ENST00000592873 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors FAM95B1 HGNC ENSG00000223839 tier1 - - 127 0 0.00 82 7 7.78 FANK1 0 genome.wustl.edu 37 10 127693454 127693454 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 10 127693454 127693454 C G SNP FANK1 ENST00000368693 human ensembl 74_37 +1 known missense c.541 p.L181V 0.992 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3,prints_Ankyrin_rpt - no_errors FANK1 HGNC ENSG00000203780 tier1 - - 111 0 0.00 93 32 25.60 FAT1 0 genome.wustl.edu 37 4 187549722 187549722 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 187549722 187549722 G T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.4519 p.L1507I 0.989 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 tier1 - - 44 0 0.00 34 4 10.53 FBXO18 0 genome.wustl.edu 37 10 5965761 5965761 + RNA SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 10 5965761 5965761 G T SNP FBXO18 ENST00000475867 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors FBXO18 HGNC ENSG00000134452 tier1 - - 19 0 0.00 12 3 20.00 FBXO22 0 genome.wustl.edu 37 15 76222260 76222260 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 76222260 76222260 G T SNP FBXO22 ENST00000308275 human ensembl 74_37 +1 known missense c.664 p.V222F 0.249 NULL pfam_FIST_C_domain,pfam_F-box_dom,superfamily_F-box_dom - no_errors FBXO22 HGNC ENSG00000167196 tier1 - - 51 0 0.00 44 4 8.33 FBXW8 0 genome.wustl.edu 37 12 117461965 117461965 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 117461965 117461965 G T SNP FBXW8 ENST00000309909 human ensembl 74_37 +1 known missense c.1381 p.D461Y 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinonprotein_ADH-like_supfam,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW8 HGNC ENSG00000174989 tier1 - - 98 0 0.00 95 5 5.00 FCRL3 0 genome.wustl.edu 37 1 157660306 157660306 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 157660306 157660306 C T SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known missense c.1447 p.V483I 0.004 pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 29 0 0.00 32 3 8.57 FGF23 0 genome.wustl.edu 37 12 4488592 4488592 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 4488592 4488592 G T SNP FGF23 ENST00000237837 human ensembl 74_37 -1 known missense c.157 p.L53M 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF23 HGNC ENSG00000118972 tier1 - - 38 0 0.00 49 4 7.55 FHL1 0 genome.wustl.edu 37 X 135291420 135291420 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 X 135291420 135291420 G A SNP FHL1 ENST00000345434 human ensembl 74_37 +1 known missense c.707 p.R236K 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL1 HGNC ENSG00000022267 tier1 - - 16 0 0.00 3 4 57.14 FIG4 0 genome.wustl.edu 37 6 110112718 110112718 + Nonsense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 110112718 110112718 C T SNP FIG4 ENST00000230124 human ensembl 74_37 +1 known nonsense c.2320 p.Q774* 1.000 NULL pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC ENSG00000112367 tier1 - - 20 0 0.00 18 5 21.74 FMNL2 0 genome.wustl.edu 37 2 153488536 153488536 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 153488536 153488536 G T SNP FMNL2 ENST00000288670 human ensembl 74_37 +1 known missense c.2565 p.K855N 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 tier1 - - 57 0 0.00 46 4 8.00 FMO3 0 genome.wustl.edu 37 1 171086431 171086431 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 171086431 171086431 G T SNP FMO3 ENST00000367755 human ensembl 74_37 +1 known missense c.1448 p.R483I 0.974 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO3 HGNC ENSG00000007933 49 0 0.00 48 3 5.88 FMO4 0 genome.wustl.edu 37 1 171303853 171303853 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 171303853 171303853 C G SNP FMO4 ENST00000367749 human ensembl 74_37 +1 known missense c.1131 p.I377M 0.774 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3 - no_errors FMO4 HGNC ENSG00000076258 tier1 - - 21 0 0.00 20 14 41.18 FRMD4A 0 genome.wustl.edu 37 10 13699399 13699399 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 10 13699399 13699399 G C SNP FRMD4A ENST00000357447 human ensembl 74_37 -1 known missense c.2190 p.F730L 1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 tier1 - - 27 0 0.00 17 8 32.00 FZD6 0 genome.wustl.edu 37 8 104337100 104337100 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 104337100 104337100 G T SNP FZD6 ENST00000358755 human ensembl 74_37 +1 known missense c.766 p.D256Y 0.987 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 44 0 0.00 48 3 5.88 GABRA2 0 genome.wustl.edu 37 4 46252361 46252361 + Nonsense_Mutation SNP A A C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 46252361 46252361 A C SNP GABRA2 ENST00000540012 human ensembl 74_37 -1 known nonsense c.1335 p.Y445* 1.000 superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA2 HGNC ENSG00000151834 tier1 - - 30 0 0.00 27 16 37.21 GALNT2 0 genome.wustl.edu 37 1 230391114 230391114 + RNA SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 230391114 230391114 G A SNP GALNT2 ENST00000485438 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors GALNT2 HGNC ENSG00000143641 tier1 - - 80 0 0.00 54 33 37.93 GAPVD1 0 genome.wustl.edu 37 9 128094322 128094322 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 9 128094322 128094322 G T SNP GAPVD1 ENST00000394105 human ensembl 74_37 +1 known missense c.2291 p.G764V 1.000 NULL pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 25 0 0.00 36 3 7.69 GAS2L3 0 genome.wustl.edu 37 12 100994180 100994180 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 100994180 100994180 G T SNP GAS2L3 ENST00000266754 human ensembl 74_37 +1 known silent c.39 p.L13 0.939 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC ENSG00000139354 27 0 0.00 24 3 11.11 GCC1 0 genome.wustl.edu 37 7 127231635 127231636 + RNA INS - - T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 7 127231635 127231636 - T INS GCC1 ENST00000473728 human ensembl 74_37 -1 known rna NULL NULL 0.929:0.928 - - - no_errors GCC1 HGNC ENSG00000179562 tier1 24 0 0.00 26 3 10.34 GGNBP1 0 genome.wustl.edu 37 6 33556768 33556768 + Nonsense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 33556768 33556768 G T SNP GGNBP1 ENST00000374458 human ensembl 74_37 +1 known nonsense c.295 p.E99* 0.820 NULL NULL - no_errors GGNBP1 HGNC ENSG00000204188 tier1 - - 53 0 0.00 36 4 10.00 GH2 0 genome.wustl.edu 37 17 61957710 61957710 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 61957710 61957710 G T SNP GH2 ENST00000423893 human ensembl 74_37 -1 known missense c.625 p.R209S 1.000 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors GH2 HGNC ENSG00000136487 tier1 - - 116 0 0.00 93 6 6.00 GLI1 0 genome.wustl.edu 37 12 57864972 57864972 + Nonsense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 57864972 57864972 G T SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known nonsense c.2449 p.E817* 0.996 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 24 0 0.00 10 2 16.67 GMEB2 0 genome.wustl.edu 37 20 62223484 62223484 + Silent SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 20 62223484 62223484 G C SNP GMEB2 ENST00000266068 human ensembl 74_37 -1 known silent c.843 p.L281 1.000 superfamily_Sig_transdc_His_kin_Hpt_dom pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Sig_transdc_His_kin_Hpt_dom,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB2 HGNC ENSG00000101216 tier1 - - 26 0 0.00 15 11 42.31 GPD2 0 genome.wustl.edu 37 2 157426011 157426011 + Silent SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 157426011 157426011 C G SNP GPD2 ENST00000310454 human ensembl 74_37 +1 known silent c.1437 p.L479 1.000 NULL pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep - no_errors GPD2 HGNC ENSG00000115159 tier1 - - 33 0 0.00 11 4 26.67 GPR112 0 genome.wustl.edu 37 X 135429032 135429032 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 X 135429032 135429032 C T SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.3167 p.S1056L 0.002 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 tier1 - - 25 0 0.00 12 21 63.64 GPR124 0 genome.wustl.edu 37 8 37698775 37698775 + Silent SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 37698775 37698775 G A SNP GPR124 ENST00000412232 human ensembl 74_37 +1 known silent c.2919 p.L973 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 tier1 - - 51 0 0.00 83 9 9.78 GRAMD1C 0 genome.wustl.edu 37 3 113619947 113619947 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 113619947 113619947 G C SNP GRAMD1C ENST00000358160 human ensembl 74_37 +1 known missense c.610 p.E204Q 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1C HGNC ENSG00000178075 24 0 0.00 37 6 13.95 GRASP 0 genome.wustl.edu 37 12 52404909 52404909 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 52404909 52404909 G T SNP GRASP ENST00000293662 human ensembl 74_37 +1 known silent c.438 p.L146 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRASP HGNC ENSG00000161835 tier1 - - 64 0 0.00 36 4 10.00 GRK7 0 genome.wustl.edu 37 3 141497256 141497256 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 141497256 141497256 G A SNP GRK7 ENST00000264952 human ensembl 74_37 +1 known missense c.130 p.G44S 0.000 superfamily_Regulat_G_prot_signal_superfam pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK7 HGNC ENSG00000114124 36 0 0.00 43 6 12.24 GRM7 0 genome.wustl.edu 37 3 6828336 6828336 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 6828336 6828336 G C SNP GRM7 ENST00000443259 human ensembl 74_37 +1 known missense c.124 p.E42Q 0.001 NULL NULL - no_errors GRM7 HGNC ENSG00000196277 tier1 - - 41 0 0.00 36 16 30.77 GSDMC 0 genome.wustl.edu 37 8 130789633 130789633 + Silent SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 130789633 130789633 C T SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known silent c.201 p.E67 0.152 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 tier1 - - 50 0 0.00 44 4 8.33 GSK3A 0 genome.wustl.edu 37 19 42737477 42737478 + Frame_Shift_Ins INS - - GG TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 19 42737477 42737478 - GG INS GSK3A ENST00000222330 human ensembl 74_37 -1 known frame_shift_ins c.963_962 p.G322fs 0.956:1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors GSK3A HGNC ENSG00000105723 tier1 22 0 0.00 17 3 15.00 H2AFZ 0 genome.wustl.edu 37 4 100870839 100870839 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 100870839 100870839 G A SNP H2AFZ ENST00000296417 human ensembl 74_37 -1 known missense c.62 p.S21L 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors H2AFZ HGNC ENSG00000164032 tier1 - - 18 0 0.00 6 7 53.85 HCK 0 genome.wustl.edu 37 20 30671780 30671780 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 20 30671780 30671780 G A SNP HCK ENST00000375852 human ensembl 74_37 +1 known missense c.616 p.G206R 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors HCK HGNC ENSG00000101336 25 0 0.00 24 3 11.11 HCRTR2 0 genome.wustl.edu 37 6 55039452 55039452 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 55039452 55039452 G A SNP HCRTR2 ENST00000370862 human ensembl 74_37 +1 known missense c.67 p.E23K 0.555 NULL pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt - no_errors HCRTR2 HGNC ENSG00000137252 tier1 - - 47 0 0.00 29 18 38.30 HDAC4 0 genome.wustl.edu 37 2 240016733 240016733 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 240016733 240016733 G T SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.2238 p.F746L 0.191 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 tier1 - - 63 0 0.00 47 5 9.62 HDAC9 0 genome.wustl.edu 37 7 18706043 18706043 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 7 18706043 18706043 G A SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known missense c.1675 p.E559K 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 tier1 - - 31 0 0.00 23 6 20.69 HECW1 0 genome.wustl.edu 37 7 43477632 43477632 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 7 43477632 43477632 G T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.832 p.V278L 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 48 0 0.00 44 3 6.38 HERC2 0 genome.wustl.edu 37 15 28437270 28437270 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 28437270 28437270 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.8288 p.S2763F 1.000 superfamily_Galactose-bd-like pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 tier1 - - 32 0 0.00 15 3 16.67 HERC2P3 0 genome.wustl.edu 37 15 20613737 20613737 + RNA SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 20613737 20613737 C T SNP HERC2P3 ENST00000430598 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors HERC2P3 HGNC ENSG00000180229 tier1 - - 10 0 0.00 7 4 36.36 HIVEP1 0 genome.wustl.edu 37 6 12122460 12122460 + Missense_Mutation SNP A A T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 12122460 12122460 A T SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.2432 p.K811M 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 tier1 - - 23 0 0.00 21 7 25.00 HLCS 0 genome.wustl.edu 37 21 38137350 38137350 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 21 38137350 38137350 G T SNP HLCS ENST00000336648 human ensembl 74_37 -1 known missense c.1643 p.A548D 1.000 pfam_BPL_LipA_LipB,tigrfam_Biotin_CoA_COase_ligase pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase - no_errors HLCS HGNC ENSG00000159267 tier1 - - 48 0 0.00 21 4 16.00 HMCN1 0 genome.wustl.edu 37 1 186114952 186114952 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 186114952 186114952 G T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.14505 p.K4835N 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 51 0 0.00 59 4 6.35 HNRNPUL1 0 genome.wustl.edu 37 19 41798231 41798231 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 19 41798231 41798231 G C SNP HNRNPUL1 ENST00000392006 human ensembl 74_37 +1 known missense c.1081 p.E361Q 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL1 HGNC ENSG00000105323 42 0 0.00 51 3 5.56 HTT 0 genome.wustl.edu 37 4 3189558 3189558 + Nonsense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 3189558 3189558 G T SNP HTT ENST00000355072 human ensembl 74_37 +1 known nonsense c.5170 p.E1724* 0.903 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 36 0 0.00 28 3 9.68 IFIT1B 0 genome.wustl.edu 37 10 91143758 91143758 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 10 91143758 91143758 G A SNP IFIT1B ENST00000371809 human ensembl 74_37 +1 known missense c.688 p.E230K 0.000 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1B HGNC ENSG00000204010 21 0 0.00 30 3 9.09 IKZF1 0 genome.wustl.edu 37 7 50459504 50459504 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 7 50459504 50459504 G T SNP IKZF1 ENST00000331340 human ensembl 74_37 +1 known missense c.793 p.D265Y 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 tier1 - - 31 0 0.00 33 4 10.81 IL10RA 0 genome.wustl.edu 37 11 117863957 117863957 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 117863957 117863957 G T SNP IL10RA ENST00000526544 human ensembl 74_37 +1 known missense c.190 p.D64Y 0.996 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors IL10RA HGNC ENSG00000110324 44 0 0.00 36 3 7.69 INPPL1 0 genome.wustl.edu 37 11 71941179 71941179 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 71941179 71941179 G T SNP INPPL1 ENST00000298229 human ensembl 74_37 +1 known silent c.954 p.V318 0.999 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 tier1 - - 29 0 0.00 31 5 13.89 IP6K2 0 genome.wustl.edu 37 3 48726145 48726145 + Nonsense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 48726145 48726145 G T SNP IP6K2 ENST00000328631 human ensembl 74_37 -1 known nonsense c.842 p.S281* 0.997 pfam_IPK pfam_IPK - no_errors IP6K2 HGNC ENSG00000068745 61 0 0.00 37 2 5.13 IQGAP2 0 genome.wustl.edu 37 5 75888710 75888710 + Silent SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 5 75888710 75888710 G A SNP IQGAP2 ENST00000274364 human ensembl 74_37 +1 known silent c.867 p.L289 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 tier1 - - 50 0 0.00 53 7 11.67 ITGA8 0 genome.wustl.edu 37 10 15726125 15726125 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 10 15726125 15726125 G T SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known missense c.446 p.A149D 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 tier1 - - 33 0 0.00 50 4 7.41 IZUMO1 0 genome.wustl.edu 37 19 49248893 49248893 + Missense_Mutation SNP A A G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 19 49248893 49248893 A G SNP IZUMO1 ENST00000332955 human ensembl 74_37 -1 known missense c.224 p.M75T 0.957 NULL NULL - no_errors IZUMO1 HGNC ENSG00000182264 tier1 - - 47 0 0.00 34 5 12.82 KALRN 0 genome.wustl.edu 37 3 124438117 124438117 + Nonsense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 124438117 124438117 G T SNP KALRN ENST00000360013 human ensembl 74_37 +1 known nonsense c.8761 p.E2921* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 22 0 0.00 34 2 5.56 KAT7 0 genome.wustl.edu 37 17 47874232 47874232 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 47874232 47874232 G T SNP KAT7 ENST00000259021 human ensembl 74_37 +1 known missense c.284 p.R95L 1.000 NULL pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase - no_errors KAT7 HGNC ENSG00000136504 tier1 - - 43 0 0.00 49 4 7.55 KAZALD1 0 genome.wustl.edu 37 10 102824320 102824320 + Silent SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 10 102824320 102824320 C T SNP KAZALD1 ENST00000370200 human ensembl 74_37 +1 known silent c.735 p.P245 0.668 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_IGFBP-like,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom - no_errors KAZALD1 HGNC ENSG00000107821 30 0 0.00 24 4 14.29 KCNH8 0 genome.wustl.edu 37 3 19491739 19491739 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 19491739 19491739 G T SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.1517 p.R506M 1.000 superfamily_cNMP-bd-like,prints_K_chnl_volt-dep_ERG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 tier1 - - 47 0 0.00 56 4 6.67 KCNN3 0 genome.wustl.edu 37 1 154794625 154794625 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 154794625 154794625 G T SNP KCNN3 ENST00000271915 human ensembl 74_37 -1 novel silent c.969 p.I323 1.000 pfam_K_chnl_Ca-activ_SK pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 tier1 - - 42 0 0.00 61 4 6.15 KDM2B 0 genome.wustl.edu 37 12 121878953 121878953 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 121878953 121878953 C T SNP KDM2B ENST00000377071 human ensembl 74_37 -1 known missense c.3368 p.R1123Q 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 tier1 - - 20 0 0.00 15 6 28.57 KIAA0100 0 genome.wustl.edu 37 17 26945891 26945891 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 26945891 26945891 G T SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known missense c.5741 p.A1914D 1.000 pfam_FMP27_C pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 tier1 - - 36 0 0.00 19 3 13.64 KIAA0100 0 genome.wustl.edu 37 17 26966978 26966978 + Missense_Mutation SNP A A C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 26966978 26966978 A C SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known missense c.956 p.L319R 1.000 pfam_FMP27_N pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 35 0 0.00 33 2 5.71 KIAA0586 0 genome.wustl.edu 37 14 58979346 58979346 + Splice_Site SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 14 58979346 58979346 G T SNP KIAA0586 ENST00000556134 human ensembl 74_37 +1 known splice_site c.4384+1 e29+1 1.000 - - - no_errors KIAA0586 HGNC ENSG00000100578 47 0 0.00 46 3 6.12 KIAA1211 0 genome.wustl.edu 37 4 57181632 57181632 + Frame_Shift_Del DEL G G - TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 57181632 57181632 G - DEL KIAA1211 ENST00000504228 human ensembl 74_37 +1 known frame_shift_del c.1964 p.R655fs 0.003 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 tier1 32 0 0.00 21 2 8.70 KIAA1456 0 genome.wustl.edu 37 8 12879455 12879455 + Silent SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 12879455 12879455 C T SNP KIAA1456 ENST00000524591 human ensembl 74_37 +1 known silent c.1267 p.L423 0.732 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel - no_errors KIAA1456 HGNC ENSG00000250305 16 0 0.00 8 6 42.86 KIAA2026 0 genome.wustl.edu 37 9 5922857 5922857 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 9 5922857 5922857 G T SNP KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel missense c.3139 p.P1047T 0.551 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 tier1 - - 40 0 0.00 51 4 7.27 KIF26B 0 genome.wustl.edu 37 1 245850119 245850119 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 245850119 245850119 C G SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.3834 p.I1278M 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 21 0 0.00 27 3 10.00 KIFC3 0 genome.wustl.edu 37 16 57798133 57798133 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 16 57798133 57798133 G T SNP KIFC3 ENST00000379655 human ensembl 74_37 -1 known silent c.1539 p.V513 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC3 HGNC ENSG00000140859 tier1 - - 23 0 0.00 12 3 20.00 KLHL33 0 genome.wustl.edu 37 14 20897035 20897035 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 14 20897035 20897035 G T SNP KLHL33 ENST00000344581 human ensembl 74_37 -1 known silent c.1575 p.T525 0.002 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BACK,smart_Kelch_1 - no_errors KLHL33 HGNC ENSG00000185271 tier1 - - 75 0 0.00 67 5 6.94 KLRK1 0 genome.wustl.edu 37 12 10541397 10541397 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 10541397 10541397 G T SNP KLRK1 ENST00000240618 human ensembl 74_37 -1 known missense c.13 p.R5S 0.012 NULL pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors KLRK1 HGNC ENSG00000213809 23 0 0.00 36 2 5.26 KPNA1 0 genome.wustl.edu 37 3 122180154 122180154 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 122180154 122180154 G T SNP KPNA1 ENST00000344337 human ensembl 74_37 -1 known missense c.349 p.P117T 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA1 HGNC ENSG00000114030 25 0 0.00 57 4 6.56 KPNB1 0 genome.wustl.edu 37 17 45750492 45750492 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 45750492 45750492 G T SNP KPNB1 ENST00000290158 human ensembl 74_37 +1 known missense c.1656 p.L552F 0.952 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors KPNB1 HGNC ENSG00000108424 tier1 - - 74 0 0.00 74 5 6.33 KRTAP5-5 0 genome.wustl.edu 37 11 1651241 1651241 + Silent SNP A A C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 1651241 1651241 A C SNP KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known silent c.171 p.G57 0.753 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 tier1 - - 57 0 0.00 38 7 15.56 KSR1 0 genome.wustl.edu 37 17 25877646 25877646 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 25877646 25877646 C T SNP KSR1 ENST00000319524 human ensembl 74_37 +1 known missense c.284 p.A95V 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 tier1 - - 62 0 0.00 49 10 16.95 L3HYPDH 0 genome.wustl.edu 37 14 59942614 59942614 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 14 59942614 59942614 G T SNP L3HYPDH ENST00000247194 human ensembl 74_37 -1 known silent c.912 p.G304 1.000 pfam_Pro_racemase_fam,pirsf_Pro_racemase_fam pfam_Pro_racemase_fam,pirsf_Pro_racemase_fam - no_errors L3HYPDH HGNC ENSG00000126790 tier1 - - 31 0 0.00 47 4 7.84 LAMB4 0 genome.wustl.edu 37 7 107720173 107720173 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 7 107720173 107720173 G T SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.1760 p.P587H 0.999 pfscan_Laminin_IV pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 tier1 - - 49 0 0.00 32 5 13.51 LAP3 0 genome.wustl.edu 37 4 17600162 17600162 + Silent SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 17600162 17600162 C G SNP LAP3 ENST00000226299 human ensembl 74_37 +1 known silent c.1161 p.L387 0.967 pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Leucine_aapep/pepB - no_errors LAP3 HGNC ENSG00000002549 51 0 0.00 28 8 22.22 LEPREL1 0 genome.wustl.edu 37 3 189838136 189838136 + Missense_Mutation SNP C C A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 189838136 189838136 C A SNP LEPREL1 ENST00000319332 human ensembl 74_37 -1 known missense c.385 p.G129W 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 tier1 rs200731219 - 14 0 0.00 24 13 35.14 LIG3 0 genome.wustl.edu 37 17 33318055 33318055 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 33318055 33318055 G C SNP LIG3 ENST00000378526 human ensembl 74_37 +1 known missense c.963 p.L321F 1.000 pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 tier1 - - 39 0 0.00 34 13 27.66 LIMA1 0 genome.wustl.edu 37 12 50615856 50615856 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 50615856 50615856 G T SNP LIMA1 ENST00000394943 human ensembl 74_37 -1 known missense c.578 p.P193Q 0.997 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMA1 HGNC ENSG00000050405 tier1 - - 38 0 0.00 56 5 8.20 LIMCH1 0 genome.wustl.edu 37 4 41699228 41699228 + RNA SNP T T C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 41699228 41699228 T C SNP LIMCH1 ENST00000515785 human ensembl 74_37 +1 known rna NULL NULL 0.027 - - - no_errors LIMCH1 HGNC ENSG00000064042 tier1 - - 30 0 0.00 25 4 13.79 LINC00205 0 genome.wustl.edu 37 21 46716123 46716123 + RNA SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 21 46716123 46716123 C G SNP LINC00205 ENST00000433465 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LINC00205 HGNC ENSG00000223768 tier1 - - 45 0 0.00 29 10 25.64 LINC00452 0 genome.wustl.edu 37 13 114622591 114622591 + RNA SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 13 114622591 114622591 C T SNP LINC00452 ENST00000426859 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors LINC00452 HGNC ENSG00000229373 59 0 0.00 48 3 5.88 LIPM 0 genome.wustl.edu 37 10 90580014 90580014 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 10 90580014 90580014 G T SNP LIPM ENST00000404743 human ensembl 74_37 +1 known missense c.1028 p.R343I 0.011 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPM HGNC ENSG00000173239 tier1 - - 25 0 0.00 29 4 12.12 LNX2 0 genome.wustl.edu 37 13 28122482 28122482 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 13 28122482 28122482 C T SNP LNX2 ENST00000316334 human ensembl 74_37 -1 known missense c.2063 p.S688N 1.000 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX2 HGNC ENSG00000139517 tier1 - - 26 0 0.00 18 9 33.33 LOC101927345 0 genome.wustl.edu 37 1 143392560 143392560 + RNA SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 143392560 143392560 C T SNP LOC101927345 ENST00000415543 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 - - 479 0 0.00 384 32 7.69 LOC440518 0 genome.wustl.edu 37 19 22782276 22782276 + RNA SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 19 22782276 22782276 G T SNP LOC440518 ENST00000597408 human ensembl 74_37 +1 known rna NULL NULL 0.747 - - - no_errors CTC-457E21.3 Clone_based_vega_gene ENSG00000269332 tier1 - - 93 0 0.00 53 10 15.87 LOC653786 0 genome.wustl.edu 37 16 22558146 22558146 + RNA SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 16 22558146 22558146 C G SNP LOC653786 ENST00000550753 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-368J21.3 Clone_based_vega_gene ENSG00000257838 50 0 0.00 37 4 9.76 LOC728715 0 genome.wustl.edu 37 12 9728249 9728249 + RNA SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 9728249 9728249 C G SNP LOC728715 ENST00000520314 human ensembl 74_37 +1 known rna NULL NULL 0.032 - - - no_errors RP11-726G1.1 Clone_based_vega_gene ENSG00000214776 tier1 - - 70 0 0.00 72 29 28.43 LPHN3 0 genome.wustl.edu 37 4 62812670 62812670 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 62812670 62812670 G T SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.2458 p.G820C 1.000 pfam_DUF3497 pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 tier1 - - 98 0 0.00 112 11 8.94 LRP6 0 genome.wustl.edu 37 12 12279828 12279828 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 12279828 12279828 G T SNP LRP6 ENST00000261349 human ensembl 74_37 -1 known missense c.4109 p.A1370D 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,superfamily_LDrepeatLR_classA_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 tier1 - - 76 0 0.00 89 6 6.25 LRRC28 0 genome.wustl.edu 37 15 99816796 99816796 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 99816796 99816796 C G SNP LRRC28 ENST00000301981 human ensembl 74_37 +1 known missense c.184 p.Q62E 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC28 HGNC ENSG00000168904 tier1 - - 63 0 0.00 74 7 8.64 LRRC41 0 genome.wustl.edu 37 1 46752057 46752057 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 46752057 46752057 G C SNP LRRC41 ENST00000343304 human ensembl 74_37 -1 known missense c.472 p.L158V 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 18 0 0.00 12 3 20.00 LRRC4C 0 genome.wustl.edu 37 11 40137250 40137250 + Missense_Mutation SNP T T A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 40137250 40137250 T A SNP LRRC4C ENST00000527150 human ensembl 74_37 -1 known missense c.593 p.N198I 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors LRRC4C HGNC ENSG00000148948 tier1 - - 21 0 0.00 20 4 16.67 LYST 0 genome.wustl.edu 37 1 235897834 235897834 + Nonsense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 235897834 235897834 G T SNP LYST ENST00000389793 human ensembl 74_37 -1 known nonsense c.8484 p.C2828* 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 tier1 - - 61 0 0.00 76 6 7.32 MAGEL2 0 genome.wustl.edu 37 15 23890265 23890265 + Silent SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 23890265 23890265 G C SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known silent c.816 p.S272 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 tier1 - - 95 0 0.00 57 17 22.97 MAGI3 0 genome.wustl.edu 37 1 114184884 114184884 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 114184884 114184884 G T SNP MAGI3 ENST00000369611 human ensembl 74_37 +1 known missense c.1712 p.S571I 1.000 superfamily_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI3 HGNC ENSG00000081026 88 0 0.00 55 3 5.17 MAK 0 genome.wustl.edu 37 6 10803989 10803989 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 10803989 10803989 G C SNP MAK ENST00000313243 human ensembl 74_37 -1 known missense c.627 p.I209M 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAK HGNC ENSG00000111837 tier1 - - 42 0 0.00 22 8 26.67 MAN2C1 0 genome.wustl.edu 37 15 75651697 75651697 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 75651697 75651697 G T SNP MAN2C1 ENST00000267978 human ensembl 74_37 -1 known missense c.2018 p.P673H 1.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2C1 HGNC ENSG00000140400 71 0 0.00 47 4 7.84 MAP3K5 0 genome.wustl.edu 37 6 137015331 137015331 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 137015331 137015331 C T SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known missense c.1200 p.M400I 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 tier1 - - 49 0 0.00 54 11 16.92 MAPK8 0 genome.wustl.edu 37 10 49632587 49632587 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 10 49632587 49632587 G T SNP MAPK8 ENST00000374176 human ensembl 74_37 +1 known missense c.647 p.G216V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom - no_errors MAPK8 HGNC ENSG00000107643 tier1 - - 67 0 0.00 63 6 8.57 MATR3 0 genome.wustl.edu 37 5 138654624 138654624 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 5 138654624 138654624 G T SNP MATR3 ENST00000361059 human ensembl 74_37 +1 known missense c.1336 p.D446Y 1.000 smart_RRM_dom,pfscan_RRM_dom smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors MATR3 HGNC ENSG00000015479 tier1 - - 41 0 0.00 60 4 6.25 MAU2 0 genome.wustl.edu 37 19 19460134 19460134 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 19 19460134 19460134 G T SNP MAU2 ENST00000262815 human ensembl 74_37 +1 known missense c.1437 p.K479N 1.000 pfam_Cohesin_loading_factor,smart_TPR_repeat pfam_Cohesin_loading_factor,smart_TPR_repeat - no_errors MAU2 HGNC ENSG00000129933 88 0 0.00 72 4 5.26 MBD5 0 genome.wustl.edu 37 2 149226195 149226195 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 149226195 149226195 G C SNP MBD5 ENST00000407073 human ensembl 74_37 +1 known missense c.683 p.G228A 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 tier1 - - 25 0 0.00 22 10 31.25 MBIP 0 genome.wustl.edu 37 14 36785950 36785950 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 14 36785950 36785950 G T SNP MBIP ENST00000416007 human ensembl 74_37 -1 known missense c.198 p.F66L 1.000 NULL NULL - no_errors MBIP HGNC ENSG00000151332 tier1 - - 35 0 0.00 47 4 7.84 MBTPS1 0 genome.wustl.edu 37 16 84132850 84132850 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 16 84132850 84132850 G T SNP MBTPS1 ENST00000343411 human ensembl 74_37 -1 known missense c.229 p.L77M 1.000 NULL pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 tier1 - - 57 0 0.00 41 5 10.87 MCM3AP 0 genome.wustl.edu 37 21 47704488 47704488 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 21 47704488 47704488 G T SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known missense c.713 p.P238H 0.261 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 tier1 - - 73 0 0.00 47 5 9.62 MED12L 0 genome.wustl.edu 37 3 151105597 151105597 + Splice_Site SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 151105597 151105597 G T SNP MED12L ENST00000474524 human ensembl 74_37 +1 known splice_site c.4984-1 e35-1 1.000 - - - no_errors MED12L HGNC ENSG00000144893 tier1 - - 56 0 0.00 73 4 5.19 MEIS1 0 genome.wustl.edu 37 2 66665074 66665074 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 66665074 66665074 G A SNP MEIS1 ENST00000407092 human ensembl 74_37 +1 known missense c.218 p.R73K 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS1 HGNC ENSG00000143995 tier1 - - 21 0 0.00 19 10 34.48 MET 0 genome.wustl.edu 37 7 116397741 116397741 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 7 116397741 116397741 G A SNP MET ENST00000318493 human ensembl 74_37 +1 known missense c.2015 p.G672D 1.000 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_IPT,superfamily_Ig_E-set,smart_IPT pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 tier1 - - 61 0 0.00 63 4 5.97 METTL4 0 genome.wustl.edu 37 18 2547509 2547509 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 18 2547509 2547509 G T SNP METTL4 ENST00000574538 human ensembl 74_37 -1 known missense c.919 p.L307M 0.002 pfam_MT-A70-like,pfscan_MT-A70-like pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL4 HGNC ENSG00000101574 45 0 0.00 40 4 9.09 MIER3 0 genome.wustl.edu 37 5 56219767 56219767 + Frame_Shift_Del DEL T T - TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 5 56219767 56219767 T - DEL MIER3 ENST00000381199 human ensembl 74_37 -1 known frame_shift_del c.1027 p.R343fs 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER3 HGNC ENSG00000155545 tier1 34 0 0.00 34 2 5.56 MIR1200 0 genome.wustl.edu 37 7 36959021 36959021 + RNA SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 7 36959021 36959021 G T SNP MIR1200 ENST00000408398 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR1200 HGNC ENSG00000221325 tier1 - - 45 0 0.00 40 4 9.09 MKI67 0 genome.wustl.edu 37 10 129913420 129913420 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 10 129913420 129913420 G C SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.1252 p.L418V 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 tier1 - - 51 0 0.00 28 18 39.13 MKRN3 0 genome.wustl.edu 37 15 23811569 23811569 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 23811569 23811569 G A SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.640 p.G214S 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 tier1 - - 51 0 0.00 39 29 42.65 MMP13 0 genome.wustl.edu 37 11 102822858 102822858 + Silent SNP A A G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 102822858 102822858 A G SNP MMP13 ENST00000340273 human ensembl 74_37 -1 novel silent c.682 p.L228 0.998 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP13 HGNC ENSG00000137745 tier1 - - 37 0 0.00 10 8 44.44 MOV10 0 genome.wustl.edu 37 1 113235508 113235508 + Frame_Shift_Del DEL C C - TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 113235508 113235508 C - DEL MOV10 ENST00000357443 human ensembl 74_37 +1 known frame_shift_del c.1097 p.W367fs 0.997 NULL superfamily_P-loop_NTPase - no_errors MOV10 HGNC ENSG00000155363 tier1 38 0 0.00 12 2 14.29 MPHOSPH8 0 genome.wustl.edu 37 13 20235848 20235848 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 13 20235848 20235848 G T SNP MPHOSPH8 ENST00000414242 human ensembl 74_37 +1 known missense c.1802 p.G601V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow - no_errors MPHOSPH8 HGNC ENSG00000196199 tier1 - - 52 0 0.00 33 4 10.81 MSR1 0 genome.wustl.edu 37 8 16021760 16021760 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 16021760 16021760 C T SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known missense c.631 p.E211K 0.999 superfamily_STAT_TF_coiled-coil,prints_Macro_scav_rcpt pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR - no_errors MSR1 HGNC ENSG00000038945 tier1 - - 38 0 0.00 18 9 33.33 MUC16 0 genome.wustl.edu 37 19 9075971 9075971 + Silent SNP T T A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 19 9075971 9075971 T A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.11475 p.P3825 0.008 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 30 0 0.00 28 12 30.00 MUC4 0 genome.wustl.edu 37 3 195508451 195508451 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 195508451 195508451 G T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.10000 p.P3334T 0.081 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 rs201933946 - 177 0 0.00 181 11 5.73 MYB 0 genome.wustl.edu 37 6 135507099 135507099 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 135507099 135507099 G T SNP MYB ENST00000341911 human ensembl 74_37 +1 known missense c.82 p.G28W 1.000 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC ENSG00000118513 tier1 - - 53 0 0.00 49 4 7.55 MYBL1 0 genome.wustl.edu 37 8 67488558 67488558 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 67488558 67488558 G T SNP MYBL1 ENST00000522677 human ensembl 74_37 -1 known missense c.1154 p.A385D 1.000 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL1 HGNC ENSG00000185697 tier1 - - 75 0 0.00 94 5 5.05 MYH15 0 genome.wustl.edu 37 3 108129652 108129652 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 108129652 108129652 C T SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known missense c.4333 p.G1445R 0.964 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 10 0 0.00 15 3 16.67 MYH2 0 genome.wustl.edu 37 17 10429074 10429074 + Missense_Mutation SNP A A G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 10429074 10429074 A G SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.4307 p.L1436P 0.998 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 58 0 0.00 45 3 6.25 MYH4 0 genome.wustl.edu 37 17 10355270 10355270 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 10355270 10355270 G T SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known silent c.3726 p.V1242 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 tier1 - - 74 0 0.00 48 4 7.69 MYH8 0 genome.wustl.edu 37 17 10299898 10299898 + Silent SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 10299898 10299898 C G SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known silent c.4500 p.T1500 0.010 pfam_Myosin_tail,superfamily_t-SNARE pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 45 0 0.00 25 2 7.41 MYO1H 0 genome.wustl.edu 37 12 109845751 109845751 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 109845751 109845751 G T SNP MYO1H ENST00000431443 human ensembl 74_37 +1 known missense c.1140 p.L380F 0.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1H HGNC ENSG00000174527 tier1 - - 71 0 0.00 69 5 6.67 MYO5B 0 genome.wustl.edu 37 18 47404149 47404149 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 18 47404149 47404149 G T SNP MYO5B ENST00000285039 human ensembl 74_37 -1 known missense c.3380 p.A1127D 0.997 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 tier1 - - 72 0 0.00 34 5 12.82 NAA20 0 genome.wustl.edu 37 20 20013246 20013246 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 20 20013246 20013246 G T SNP NAA20 ENST00000334982 human ensembl 74_37 +1 known missense c.400 p.V134F 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA20 HGNC ENSG00000173418 tier1 - - 30 0 0.00 29 4 12.12 NBEA 0 genome.wustl.edu 37 13 36245305 36245305 + RNA SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 13 36245305 36245305 G A SNP NBEA ENST00000461581 human ensembl 74_37 +1 known rna NULL NULL 0.988 - - - no_errors NBEA HGNC ENSG00000172915 tier1 - - 42 0 0.00 35 7 16.67 NCAPG 0 genome.wustl.edu 37 4 17813843 17813843 + Splice_Site SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 17813843 17813843 G T SNP NCAPG ENST00000251496 human ensembl 74_37 +1 known splice_site c.112-1 e2-1 1.000 - - - no_errors NCAPG HGNC ENSG00000109805 tier1 - - 43 0 0.00 45 6 11.76 NCK1 0 genome.wustl.edu 37 3 136664643 136664643 + Missense_Mutation SNP A A C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 136664643 136664643 A C SNP NCK1 ENST00000288986 human ensembl 74_37 +1 known missense c.445 p.N149H 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK1 HGNC ENSG00000158092 tier1 - - 92 0 0.00 109 18 14.17 NCL 0 genome.wustl.edu 37 2 232327928 232327928 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 232327928 232327928 C T SNP NCL ENST00000322723 human ensembl 74_37 -1 known missense c.118 p.D40N 1.000 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC ENSG00000115053 tier1 - - 69 0 0.00 65 8 10.96 NCOA5 0 genome.wustl.edu 37 20 44691014 44691014 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 20 44691014 44691014 G T SNP NCOA5 ENST00000290231 human ensembl 74_37 -1 known silent c.1665 p.S555 0.998 NULL superfamily_Anticodon-bd - no_errors NCOA5 HGNC ENSG00000124160 tier1 - - 56 0 0.00 50 5 9.09 NEK3 0 genome.wustl.edu 37 13 52730333 52730333 + Nonsense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 13 52730333 52730333 G T SNP NEK3 ENST00000452082 human ensembl 74_37 -1 known nonsense c.57 p.C19* 0.083 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK3 HGNC ENSG00000136098 tier1 - - 52 0 0.00 49 6 10.91 NFATC3 0 genome.wustl.edu 37 16 68217182 68217182 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 16 68217182 68217182 G T SNP NFATC3 ENST00000346183 human ensembl 74_37 +1 known missense c.2011 p.A671S 1.000 superfamily_Ig_E-set,smart_IPT pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC ENSG00000072736 tier1 - - 58 0 0.00 68 5 6.85 NIF3L1 0 genome.wustl.edu 37 2 201761925 201761925 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 201761925 201761925 G T SNP NIF3L1 ENST00000409020 human ensembl 74_37 +1 known missense c.853 p.G285W 0.998 pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3 pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3 - no_errors NIF3L1 HGNC ENSG00000196290 12 0 0.00 28 2 6.67 NIPA2 0 genome.wustl.edu 37 15 23006735 23006735 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 23006735 23006735 G T SNP NIPA2 ENST00000337451 human ensembl 74_37 -1 known missense c.569 p.A190E 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPA2 HGNC ENSG00000140157 32 0 0.00 29 2 6.45 NMS 0 genome.wustl.edu 37 2 101093850 101093850 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 101093850 101093850 G C SNP NMS ENST00000376865 human ensembl 74_37 +1 known missense c.235 p.E79Q 0.454 NULL pfam_NMU_C - no_errors NMS HGNC ENSG00000204640 tier1 - - 48 0 0.00 53 8 13.11 NUDT6 0 genome.wustl.edu 37 4 123838727 123838727 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 123838727 123838727 G T SNP NUDT6 ENST00000304430 human ensembl 74_37 -1 known missense c.371 p.T124K 0.002 superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like - no_errors NUDT6 HGNC ENSG00000170917 48 0 0.00 54 3 5.26 OAS1 0 genome.wustl.edu 37 12 113346558 113346558 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 113346558 113346558 G T SNP OAS1 ENST00000445409 human ensembl 74_37 +1 known missense c.398 p.S133I 0.980 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS1 HGNC ENSG00000089127 tier1 - - 26 0 0.00 14 3 17.65 OAS3 0 genome.wustl.edu 37 12 113385763 113385763 + Silent SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 113385763 113385763 G A SNP OAS3 ENST00000228928 human ensembl 74_37 +1 known silent c.888 p.L296 1.000 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 tier1 - - 31 0 0.00 16 3 15.79 OPA1 0 genome.wustl.edu 37 3 193335055 193335055 + Silent SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 193335055 193335055 G A SNP OPA1 ENST00000361510 human ensembl 74_37 +1 known silent c.537 p.L179 0.993 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF - no_errors OPA1 HGNC ENSG00000198836 26 0 0.00 37 3 7.50 OR10X1 0 genome.wustl.edu 37 1 158549211 158549211 + Missense_Mutation SNP A A T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 158549211 158549211 A T SNP OR10X1 ENST00000368150 human ensembl 74_37 -1 known missense c.479 p.L160H 0.020 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC ENSG00000186400 tier1 - - 37 0 0.00 29 5 14.71 OR12D2 0 genome.wustl.edu 37 6 29364598 29364598 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 29364598 29364598 G T SNP OR12D2 ENST00000383555 human ensembl 74_37 +1 known missense c.122 p.G41V 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR12D2 HGNC ENSG00000168787 tier1 - - 64 0 0.00 59 4 6.35 OR13H1 0 genome.wustl.edu 37 X 130678783 130678783 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 X 130678783 130678783 G A SNP OR13H1 ENST00000338616 human ensembl 74_37 +1 known missense c.736 p.V246M 0.428 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13H1 HGNC ENSG00000171054 tier1 - - 27 0 0.00 15 8 34.78 OR14K1 0 genome.wustl.edu 37 1 247902091 247902091 + Missense_Mutation SNP T T A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 247902091 247902091 T A SNP OR14K1 ENST00000283225 human ensembl 74_37 +1 known missense c.175 p.F59I 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14K1 HGNC ENSG00000153230 tier1 - - 78 0 0.00 94 6 6.00 OR2J1 0 genome.wustl.edu 37 6 29068913 29068913 + Nonsense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 29068913 29068913 C G SNP OR2J1 ENST00000377171 human ensembl 74_37 +1 known nonsense c.194 p.S65* 0.294 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2J1 HGNC ENSG00000204702 tier1 - - 79 0 0.00 70 20 22.22 OR2J1 0 genome.wustl.edu 37 6 29069584 29069584 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 29069584 29069584 C G SNP OR2J1 ENST00000377171 human ensembl 74_37 +1 known missense c.865 p.L289V 0.991 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2J1 HGNC ENSG00000204702 tier1 - - 54 0 0.00 39 10 20.41 OR4C12 0 genome.wustl.edu 37 11 50003299 50003299 + Missense_Mutation SNP A A C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 50003299 50003299 A C SNP OR4C12 ENST00000335238 human ensembl 74_37 -1 known missense c.739 p.L247V 0.007 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4C12 HGNC ENSG00000221954 tier1 - - 41 0 0.00 39 6 13.33 OR51A7 0 genome.wustl.edu 37 11 4929161 4929161 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 4929161 4929161 G T SNP OR51A7 ENST00000359350 human ensembl 74_37 +1 known missense c.562 p.A188S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR51A7 HGNC ENSG00000176895 tier1 - - 72 0 0.00 70 4 5.41 OR51I2 0 genome.wustl.edu 37 11 5475435 5475435 + Missense_Mutation SNP C C A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 5475435 5475435 C A SNP OR51I2 ENST00000341449 human ensembl 74_37 +1 known missense c.717 p.N239K 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51I2 HGNC ENSG00000187918 65 0 0.00 52 4 7.14 OR5D14 0 genome.wustl.edu 37 11 55563633 55563633 + Missense_Mutation SNP T T G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 55563633 55563633 T G SNP OR5D14 ENST00000335605 human ensembl 74_37 +1 known missense c.602 p.L201R 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D14 HGNC ENSG00000186113 tier1 - - 117 0 0.00 82 31 27.43 OR5W2 0 genome.wustl.edu 37 11 55681210 55681210 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 55681210 55681210 G T SNP OR5W2 ENST00000344514 human ensembl 74_37 -1 known silent c.849 p.P283 0.981 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5W2 HGNC ENSG00000187612 33 0 0.00 25 3 10.71 OR8H3 0 genome.wustl.edu 37 11 55890770 55890770 + Silent SNP A A C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 55890770 55890770 A C SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known silent c.922 p.R308 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 tier1 - - 26 0 0.00 37 4 9.76 OSBPL1A 0 genome.wustl.edu 37 18 21894264 21894264 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 18 21894264 21894264 G T SNP OSBPL1A ENST00000319481 human ensembl 74_37 -1 known missense c.918 p.D306E 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 tier1 - - 31 0 0.00 58 4 6.45 OTOF 0 genome.wustl.edu 37 2 26703078 26703078 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 26703078 26703078 G T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known silent c.1905 p.V635 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 tier1 - - 47 0 0.00 35 4 10.00 OVOL1 0 genome.wustl.edu 37 11 65554863 65554863 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 65554863 65554863 G T SNP OVOL1 ENST00000335987 human ensembl 74_37 +1 known missense c.19 p.V7L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OVOL1 HGNC ENSG00000172818 37 0 0.00 25 4 13.79 PABPC1 0 genome.wustl.edu 37 8 101719226 101719226 + Splice_Site SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 101719226 101719226 C G SNP PABPC1 ENST00000318607 human ensembl 74_37 -1 known splice_site c.1337-1 e10-1 1.000 - - - no_errors PABPC1 HGNC ENSG00000070756 10 0 0.00 22 3 11.54 PALLD 0 genome.wustl.edu 37 4 169819706 169819706 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 169819706 169819706 G T SNP PALLD ENST00000261509 human ensembl 74_37 +1 known missense c.2262 p.R754S 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PALLD HGNC ENSG00000129116 tier1 - - 45 0 0.00 50 5 9.09 PCDH15 0 genome.wustl.edu 37 10 55568657 55568657 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 10 55568657 55568657 G T SNP PCDH15 ENST00000395445 human ensembl 74_37 -1 novel missense c.5153 p.P1718H 0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 93 0 0.00 94 7 6.93 PCDH15 0 genome.wustl.edu 37 10 55755437 55755437 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 10 55755437 55755437 G T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.2840 p.T947K 0.980 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 46 0 0.00 54 3 5.26 PCDHB14 0 genome.wustl.edu 37 5 140604233 140604233 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 5 140604233 140604233 C G SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.1156 p.Q386E 0.041 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 tier1 - - 45 0 0.00 42 6 12.50 PCDHB3 0 genome.wustl.edu 37 5 140481417 140481417 + Missense_Mutation SNP C C A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 5 140481417 140481417 C A SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.1184 p.P395Q 0.025 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 35 0 0.00 33 2 5.71 PCDHGB7 0 genome.wustl.edu 37 5 140799311 140799311 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 5 140799311 140799311 G C SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known missense c.1885 p.V629L 0.003 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 tier1 - - 41 0 0.00 27 7 20.59 PCOLCE2 0 genome.wustl.edu 37 3 142557648 142557648 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 142557648 142557648 C T SNP PCOLCE2 ENST00000295992 human ensembl 74_37 -1 known missense c.674 p.R225K 0.001 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain - no_errors PCOLCE2 HGNC ENSG00000163710 tier1 - - 37 0 0.00 75 8 9.64 PDCD6IP 0 genome.wustl.edu 37 3 33870405 33870405 + Nonsense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 33870405 33870405 C T SNP PDCD6IP ENST00000457054 human ensembl 74_37 +1 known nonsense c.793 p.Q265* 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 tier1 - - 46 0 0.00 47 15 24.19 PDE3B 0 genome.wustl.edu 37 11 14865564 14865564 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 14865564 14865564 G T SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known missense c.2512 p.A838S 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 18 0 0.00 29 3 9.38 PDE7A 0 genome.wustl.edu 37 8 66753636 66753636 + Silent SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 66753636 66753636 G A SNP PDE7A ENST00000401827 human ensembl 74_37 -1 known silent c.108 p.F36 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE7A HGNC ENSG00000205268 tier1 - - 67 0 0.00 36 7 16.28 PDZD8 0 genome.wustl.edu 37 10 119100605 119100605 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 10 119100605 119100605 G T SNP PDZD8 ENST00000334464 human ensembl 74_37 -1 known missense c.881 p.P294Q 1.000 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 tier1 - - 63 0 0.00 68 4 5.56 PHF10 0 genome.wustl.edu 37 6 170117959 170117959 + Silent SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 170117959 170117959 C G SNP PHF10 ENST00000339209 human ensembl 74_37 -1 known silent c.369 p.L123 0.987 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF10 HGNC ENSG00000130024 tier1 - - 19 0 0.00 18 6 25.00 PIAS1 0 genome.wustl.edu 37 15 68438944 68438944 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 68438944 68438944 G T SNP PIAS1 ENST00000249636 human ensembl 74_37 +1 known missense c.734 p.R245L 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS1 HGNC ENSG00000033800 36 0 0.00 27 2 6.90 PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 tier1 rs104886003 - 66 0 0.00 104 24 18.75 PIK3R6 0 genome.wustl.edu 37 17 8731963 8731963 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 8731963 8731963 G T SNP PIK3R6 ENST00000311434 human ensembl 74_37 -1 known silent c.1234 p.R412 0.777 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R6 HGNC ENSG00000174083 tier1 - - 12 0 0.00 5 4 44.44 PKD1 0 genome.wustl.edu 37 16 2139786 2139786 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 16 2139786 2139786 G C SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.12854 p.T4285S 0.000 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 17 0 0.00 18 5 21.74 PKD2 0 genome.wustl.edu 37 4 88957371 88957371 + Splice_Site SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 88957371 88957371 G T SNP PKD2 ENST00000237596 human ensembl 74_37 +1 known splice_site c.710-1 e3-1 1.000 - - - no_errors PKD2 HGNC ENSG00000118762 19 0 0.00 6 3 33.33 PLA2R1 0 genome.wustl.edu 37 2 160832730 160832730 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 160832730 160832730 G T SNP PLA2R1 ENST00000283243 human ensembl 74_37 -1 known missense c.2444 p.P815H 0.999 superfamily_C-type_lectin_fold,smart_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 30 0 0.00 35 2 5.41 PLAA 0 genome.wustl.edu 37 9 26916525 26916525 + RNA SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 9 26916525 26916525 G T SNP PLAA ENST00000520641 human ensembl 74_37 -1 known rna NULL NULL 0.303 - - - no_errors PLAA HGNC ENSG00000137055 tier1 - - 41 0 0.00 39 4 9.30 PLD5 0 genome.wustl.edu 37 1 242271125 242271125 + Silent SNP A A G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 242271125 242271125 A G SNP PLD5 ENST00000536534 human ensembl 74_37 -1 known silent c.1087 p.L363 0.998 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 tier1 - - 38 0 0.00 45 4 8.16 PLEKHM2 0 genome.wustl.edu 37 1 16053861 16053861 + Frame_Shift_Del DEL C C - TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 16053861 16053861 C - DEL PLEKHM2 ENST00000375799 human ensembl 74_37 +1 known frame_shift_del c.1294 p.P433fs 1.000 NULL pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC ENSG00000116786 tier1 27 0 0.00 20 2 9.09 PLIN3 0 genome.wustl.edu 37 19 4839479 4839479 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 19 4839479 4839479 G T SNP PLIN3 ENST00000221957 human ensembl 74_37 -1 known missense c.1030 p.L344M 0.537 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN3 HGNC ENSG00000105355 tier1 - - 51 0 0.00 54 4 6.90 PLK4 0 genome.wustl.edu 37 4 128811266 128811266 + Nonsense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 128811266 128811266 G T SNP PLK4 ENST00000270861 human ensembl 74_37 +1 known nonsense c.1705 p.E569* 0.916 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK4 HGNC ENSG00000142731 tier1 - - 39 0 0.00 56 4 6.67 PLK4 0 genome.wustl.edu 37 4 128819601 128819601 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 128819601 128819601 G C SNP PLK4 ENST00000270861 human ensembl 74_37 +1 known missense c.2818 p.E940Q 1.000 pfam_POLO_box_duplicated_dom,pfscan_POLO_box_duplicated_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK4 HGNC ENSG00000142731 tier1 - - 41 0 0.00 31 6 16.22 PLP1 0 genome.wustl.edu 37 X 103040564 103040564 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 X 103040564 103040564 G T SNP PLP1 ENST00000303958 human ensembl 74_37 +1 known missense c.58 p.V20L 1.000 pfam_Myelin_PLP,prints_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors PLP1 HGNC ENSG00000123560 tier1 - - 62 0 0.00 53 4 7.02 PMP22 0 genome.wustl.edu 37 17 15142816 15142816 + Nonsense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 15142816 15142816 G T SNP PMP22 ENST00000312280 human ensembl 74_37 -1 known nonsense c.291 p.Y97* 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20 pfam_PMP22/EMP/MP20/Claudin,prints_PMP22,prints_PMP22_EMP_MP20 - no_errors PMP22 HGNC ENSG00000109099 tier1 - - 76 0 0.00 56 4 6.67 POGK 0 genome.wustl.edu 37 1 166818379 166818379 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 166818379 166818379 G T SNP POGK ENST00000367875 human ensembl 74_37 +1 known missense c.563 p.G188V 0.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors POGK HGNC ENSG00000143157 tier1 - - 39 0 0.00 21 3 12.50 POLR1A 0 genome.wustl.edu 37 2 86258456 86258456 + Nonsense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 86258456 86258456 G T SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known nonsense c.4575 p.C1525* 0.962 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 37 0 0.00 28 2 6.67 POLR2A 0 genome.wustl.edu 37 17 7416403 7416403 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 7416403 7416403 G T SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known missense c.4820 p.G1607V 1.000 NULL pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 tier1 - - 82 0 0.00 40 4 9.09 POLR2J 0 genome.wustl.edu 37 7 102119272 102119272 + Silent SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 7 102119272 102119272 G C SNP POLR2J ENST00000393794 human ensembl 74_37 -1 known silent c.36 p.L12 1.000 superfamily_RBP11-like_dimer pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer - no_errors POLR2J HGNC ENSG00000005075 tier1 - - 61 0 0.00 47 16 25.40 PRDM14 0 genome.wustl.edu 37 8 70981438 70981438 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 70981438 70981438 G T SNP PRDM14 ENST00000276594 human ensembl 74_37 -1 known missense c.658 p.H220N 0.677 NULL pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM14 HGNC ENSG00000147596 tier1 - - 56 0 0.00 50 5 9.09 PREPL 0 genome.wustl.edu 37 2 44586763 44586763 + Missense_Mutation SNP T T C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 44586763 44586763 T C SNP PREPL ENST00000260648 human ensembl 74_37 -1 known missense c.92 p.Y31C 0.439 NULL pfam_Peptidase_S9,pfam_Pept_S9A_N,prints_Peptidase_S9A - no_errors PREPL HGNC ENSG00000138078 tier1 - - 41 0 0.00 47 23 32.86 PRKAB2 0 genome.wustl.edu 37 1 146634077 146634077 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 146634077 146634077 G T SNP PRKAB2 ENST00000254101 human ensembl 74_37 -1 known missense c.614 p.P205Q 1.000 pfam_AMP_prot_kin_bsu_interact-dom pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set - no_errors PRKAB2 HGNC ENSG00000131791 28 0 0.00 33 4 10.81 PRKG1 0 genome.wustl.edu 37 10 53667299 53667299 + Missense_Mutation SNP T T C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 10 53667299 53667299 T C SNP PRKG1 ENST00000373980 human ensembl 74_37 +1 known missense c.731 p.I244T 1.000 pirsf_cGMP-dependent_protein_kinase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_cGMP_dep_kinase,pfscan_cNMP-bd_dom pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom - no_errors PRKG1 HGNC ENSG00000185532 tier1 - - 64 0 0.00 31 23 42.59 PROC 0 genome.wustl.edu 37 2 128183756 128183756 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 128183756 128183756 C T SNP PROC ENST00000453608 human ensembl 74_37 +1 known missense c.796 p.R266W 0.020 pirsf_Pept_S1A_FX,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors PROC HGNC ENSG00000115718 tier1 rs28933986 - 16 0 0.00 26 7 21.21 PSG10P 0 genome.wustl.edu 37 19 43348520 43348520 + RNA SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 19 43348520 43348520 C T SNP PSG10P ENST00000597171 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PSG10P HGNC ENSG00000248257 tier1 - - 176 0 0.00 130 52 28.57 PSMB3 0 genome.wustl.edu 37 17 36909465 36909465 + Silent SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 36909465 36909465 C T SNP PSMB3 ENST00000225426 human ensembl 74_37 +1 known silent c.66 p.I22 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b - no_errors PSMB3 HGNC ENSG00000108294 tier1 - - 59 0 0.00 30 6 16.67 PSMD5 0 genome.wustl.edu 37 9 123580395 123580395 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 9 123580395 123580395 G T SNP PSMD5 ENST00000210313 human ensembl 74_37 -1 known missense c.1304 p.P435Q 1.000 pfam_26S_Psome_nonATP_su5 pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold - no_errors PSMD5 HGNC ENSG00000095261 tier1 - - 47 0 0.00 55 4 6.78 PSMD9 0 genome.wustl.edu 37 12 122326826 122326826 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 122326826 122326826 G T SNP PSMD9 ENST00000541212 human ensembl 74_37 +1 known missense c.64 p.D22Y 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ - no_errors PSMD9 HGNC ENSG00000110801 38 0 0.00 28 3 9.68 PTP4A1 0 genome.wustl.edu 37 6 64289199 64289199 + Nonsense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 64289199 64289199 G T SNP PTP4A1 ENST00000370651 human ensembl 74_37 +1 known nonsense c.367 p.G123* 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTP4A1 HGNC ENSG00000112245 tier1 - - 35 0 0.00 51 4 7.27 PTPN18 0 genome.wustl.edu 37 2 131128322 131128322 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 131128322 131128322 G A SNP PTPN18 ENST00000175756 human ensembl 74_37 +1 known missense c.801 p.M267I 0.998 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN18 HGNC ENSG00000072135 tier1 - - 66 0 0.00 37 9 19.57 PTPN9 0 genome.wustl.edu 37 15 75763043 75763043 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 75763043 75763043 G T SNP PTPN9 ENST00000306726 human ensembl 74_37 -1 known missense c.1337 p.T446K 0.911 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_CRAL-TRIO_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_CRAL-bd_toc_tran - no_errors PTPN9 HGNC ENSG00000169410 90 0 0.00 55 3 5.17 RAB26 0 genome.wustl.edu 37 16 2202871 2202871 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 16 2202871 2202871 G T SNP RAB26 ENST00000210187 human ensembl 74_37 +1 known missense c.519 p.M173I 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB26 HGNC ENSG00000167964 tier1 - - 29 0 0.00 17 4 19.05 RABGAP1 0 genome.wustl.edu 37 9 125827753 125827753 + Frame_Shift_Del DEL A A - TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 9 125827753 125827753 A - DEL RABGAP1 ENST00000456584 human ensembl 74_37 +1 known frame_shift_del c.1717 p.K576fs 0.000 pfscan_Rab-GTPase-TBC_dom pfam_Kinesin-like,pfam_Rab-GTPase-TBC_dom,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 tier1 21 0 0.00 17 3 15.00 RASAL2-AS1 0 genome.wustl.edu 37 1 178062346 178062346 + RNA SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 178062346 178062346 G A SNP RASAL2-AS1 ENST00000419458 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RASAL2-AS1 HGNC ENSG00000224687 tier1 - - 37 0 0.00 34 7 17.07 RASGEF1A 0 genome.wustl.edu 37 10 43692530 43692530 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 10 43692530 43692530 G T SNP RASGEF1A ENST00000395809 human ensembl 74_37 -1 known silent c.1242 p.S414 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1A HGNC ENSG00000198915 tier1 - - 64 0 0.00 33 6 15.38 RBM5 0 genome.wustl.edu 37 3 50147857 50147857 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 50147857 50147857 G T SNP RBM5 ENST00000347869 human ensembl 74_37 +1 known missense c.1324 p.A442S 0.993 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC ENSG00000003756 tier1 - - 58 0 0.00 47 4 7.84 RBM8A 0 genome.wustl.edu 37 1 145508235 145508235 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 145508235 145508235 G T SNP RBM8A ENST00000330165 human ensembl 74_37 +1 known missense c.156 p.E52D 0.998 NULL pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom,prints_RNA-bd_8 - no_errors RBM8A HGNC ENSG00000131795 tier1 - - 36 0 0.00 45 4 8.16 RC3H2 0 genome.wustl.edu 37 9 125652626 125652626 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 9 125652626 125652626 G T SNP RC3H2 ENST00000357244 human ensembl 74_37 -1 known missense c.548 p.A183D 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 tier1 - - 50 0 0.00 46 4 7.84 REXO1 0 genome.wustl.edu 37 19 1820106 1820106 + RNA SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 19 1820106 1820106 G T SNP REXO1 ENST00000586343 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors REXO1 HGNC ENSG00000079313 tier1 - - 36 0 0.00 23 10 30.30 RFC1 0 genome.wustl.edu 37 4 39297293 39297293 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 39297293 39297293 G T SNP RFC1 ENST00000381897 human ensembl 74_37 -1 known missense c.2898 p.H966Q 0.994 pfam_DNA_replication_fac_RFC1_C,superfamily_DNA_pol3_clamp-load_cplx_C,pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 tier1 - - 38 0 0.00 33 4 10.81 RGS20 0 genome.wustl.edu 37 8 54764502 54764502 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 54764502 54764502 C T SNP RGS20 ENST00000297313 human ensembl 74_37 +1 known missense c.43 p.H15Y 0.036 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS20 HGNC ENSG00000147509 tier1 - - 31 0 0.00 31 10 24.39 RIMS2 0 genome.wustl.edu 37 8 104933054 104933055 + RNA DEL AA AA - TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 104933054 104933055 AA - DEL RIMS2 ENST00000501515 human ensembl 74_37 +1 known rna NULL NULL 0.054:0.048 - - - no_errors RIMS2 HGNC ENSG00000176406 tier1 11 0 0.00 20 2 9.09 RIMS2 0 genome.wustl.edu 37 8 105001620 105001620 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 105001620 105001620 G A SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.3015 p.M1005I 0.998 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 48 0 0.00 35 6 14.63 ROBO1 0 genome.wustl.edu 37 3 78689030 78689030 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 78689030 78689030 G T SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known silent c.2901 p.I967 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 tier1 - - 36 0 0.00 37 9 19.57 ROS1 0 genome.wustl.edu 37 6 117686360 117686360 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 117686360 117686360 G T SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known missense c.2981 p.A994D 0.656 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 43 0 0.00 42 3 6.67 RP1 0 genome.wustl.edu 37 8 55541969 55541969 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 55541969 55541969 G T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.5527 p.A1843S 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 - - 34 0 0.00 29 4 12.12 RPL11 0 genome.wustl.edu 37 1 24019156 24019156 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 24019156 24019156 C G SNP RPL11 ENST00000374550 human ensembl 74_37 +1 known missense c.64 p.L22V 1.000 pfam_Ribosomal_L5,superfamily_Ribosomal_L5_domain,pirsf_Ribosomal_L5 pfam_Ribosomal_L5,superfamily_Ribosomal_L5_domain,pirsf_Ribosomal_L5 - no_errors RPL11 HGNC ENSG00000142676 tier1 - - 33 0 0.00 26 6 18.75 RPL3 0 genome.wustl.edu 37 22 39708981 39708981 + Silent SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 22 39708981 39708981 C G SNP RPL3 ENST00000216146 human ensembl 74_37 -1 known silent c.1176 p.L392 0.986 NULL pfam_Ribosomal_L3,superfamily_Transl_B-barrel - no_errors RPL3 HGNC ENSG00000100316 35 0 0.00 34 2 5.56 RRP8 0 genome.wustl.edu 37 11 6623317 6623317 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 6623317 6623317 G T SNP RRP8 ENST00000254605 human ensembl 74_37 -1 known silent c.228 p.P76 0.000 NULL pfam_Methyltransferase-rel,pfam_Methyltransf_11 - no_errors RRP8 HGNC ENSG00000132275 73 0 0.00 76 4 5.00 RYK 0 genome.wustl.edu 37 3 133910826 133910826 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 133910826 133910826 G T SNP RYK ENST00000427044 human ensembl 74_37 -1 known missense c.315 p.S105R 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RYK HGNC ENSG00000163785 tier1 - - 50 0 0.00 72 5 6.49 SARDH 0 genome.wustl.edu 37 9 136599116 136599116 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 9 136599116 136599116 G T SNP SARDH ENST00000371872 human ensembl 74_37 -1 known missense c.180 p.S60R 0.024 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 42 0 0.00 35 2 5.41 SART1 0 genome.wustl.edu 37 11 65733370 65733370 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 65733370 65733370 G T SNP SART1 ENST00000312397 human ensembl 74_37 +1 known missense c.751 p.A251S 0.998 pfam_SART_1 pfam_SART_1 - no_errors SART1 HGNC ENSG00000175467 tier1 - - 45 0 0.00 40 5 10.87 SCAMP2 0 genome.wustl.edu 37 15 75165585 75165585 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 75165585 75165585 G T SNP SCAMP2 ENST00000268099 human ensembl 74_37 -1 known missense c.12 p.F4L 1.000 NULL pfam_SCAMP - no_errors SCAMP2 HGNC ENSG00000140497 tier1 - - 103 0 0.00 56 4 6.67 SCHIP1 0 genome.wustl.edu 37 3 159557928 159557928 + RNA SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 159557928 159557928 C T SNP SCHIP1 ENST00000483730 human ensembl 74_37 +1 putative rna NULL NULL 0.963 - - - no_errors SCHIP1 HGNC ENSG00000151967 tier1 - - 38 0 0.00 44 9 16.67 SCN1A 0 genome.wustl.edu 37 2 166900304 166900304 + Missense_Mutation SNP T T G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 166900304 166900304 T G SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.1918 p.K640Q 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 tier1 - - 53 0 0.00 43 12 21.82 SCN3A 0 genome.wustl.edu 37 2 165996004 165996004 + Silent SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 165996004 165996004 G A SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known silent c.2134 p.L712 0.995 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 tier1 - - 34 0 0.00 20 8 28.57 SEC24A 0 genome.wustl.edu 37 5 134007577 134007577 + Splice_Site SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 5 134007577 134007577 G T SNP SEC24A ENST00000398844 human ensembl 74_37 +1 known splice_site c.817+1 e4+1 1.000 - - - no_errors SEC24A HGNC ENSG00000113615 28 0 0.00 38 4 9.52 SELRC1 0 genome.wustl.edu 37 1 53153409 53153409 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 53153409 53153409 G T SNP SELRC1 ENST00000371538 human ensembl 74_37 -1 known missense c.679 p.P227T 0.625 NULL pfam_Sel1-like,smart_Sel1-like - no_errors SELRC1 HGNC ENSG00000162377 58 0 0.00 55 3 5.17 SEMA4F 0 genome.wustl.edu 37 2 74902360 74902360 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 74902360 74902360 C G SNP SEMA4F ENST00000357877 human ensembl 74_37 +1 known missense c.1221 p.F407L 0.999 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4F HGNC ENSG00000135622 tier1 - - 45 0 0.00 18 13 41.94 SERPINA1 0 genome.wustl.edu 37 14 94847363 94847363 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 14 94847363 94847363 C G SNP SERPINA1 ENST00000355814 human ensembl 74_37 -1 known missense c.762 p.Q254H 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA1 HGNC ENSG00000197249 tier1 - - 74 0 0.00 40 6 13.04 SETBP1 0 genome.wustl.edu 37 18 42532361 42532361 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 18 42532361 42532361 G A SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.3056 p.R1019H 1.000 smart_AT_hook_DNA-bd_motif smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 tier1 rs140544874 - 33 0 0.00 49 16 24.62 SGCB 0 genome.wustl.edu 37 4 52895000 52895000 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 52895000 52895000 G T SNP SGCB ENST00000381431 human ensembl 74_37 -1 known missense c.517 p.P173T 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCB HGNC ENSG00000163069 tier1 - - 44 0 0.00 31 4 11.43 SKAP2 0 genome.wustl.edu 37 7 26709727 26709727 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 7 26709727 26709727 C G SNP SKAP2 ENST00000345317 human ensembl 74_37 -1 known missense c.1072 p.D358H 1.000 pfscan_SH3_domain pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain - no_errors SKAP2 HGNC ENSG00000005020 tier1 - - 72 0 0.00 70 32 31.37 SKOR2 0 genome.wustl.edu 37 18 44774974 44774974 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 18 44774974 44774974 G T SNP SKOR2 ENST00000400404 human ensembl 74_37 -1 known missense c.581 p.P194H 0.998 pfam_c-SKI_SMAD4-bd_dom,superfamily_SAND_dom-like pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR2 HGNC ENSG00000215474 tier1 - - 81 0 0.00 56 4 6.67 SLC12A7 0 genome.wustl.edu 37 5 1083966 1083966 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 5 1083966 1083966 G T SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known silent c.1023 p.L341 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 tier1 - - 99 0 0.00 107 6 5.31 SLC16A5 0 genome.wustl.edu 37 17 73096682 73096682 + Silent SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 73096682 73096682 C T SNP SLC16A5 ENST00000329783 human ensembl 74_37 +1 known silent c.924 p.F308 0.955 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC ENSG00000170190 tier1 - - 28 0 0.00 43 6 12.24 SLC25A36 0 genome.wustl.edu 37 3 140675495 140675495 + Silent SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 140675495 140675495 C G SNP SLC25A36 ENST00000324194 human ensembl 74_37 +1 known silent c.168 p.V56 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling - no_errors SLC25A36 HGNC ENSG00000114120 tier1 - - 49 0 0.00 72 11 13.25 SLC39A6 0 genome.wustl.edu 37 18 33689687 33689687 + Missense_Mutation SNP C C A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 18 33689687 33689687 C A SNP SLC39A6 ENST00000269187 human ensembl 74_37 -1 known missense c.2137 p.D713Y 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A6 HGNC ENSG00000141424 tier1 - - 23 0 0.00 29 5 14.71 SLC40A1 0 genome.wustl.edu 37 2 190428330 190428330 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 190428330 190428330 C T SNP SLC40A1 ENST00000261024 human ensembl 74_37 -1 known missense c.1382 p.G461D 1.000 pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt - no_errors SLC40A1 HGNC ENSG00000138449 39 0 0.00 21 2 8.70 SLC4A10 0 genome.wustl.edu 37 2 162751319 162751319 + Missense_Mutation SNP A A C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 162751319 162751319 A C SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known missense c.1325 p.K442T 1.000 superfamily_PTrfase/Anion_transptr,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 tier1 - - 41 0 0.00 46 7 13.21 SLC7A14 0 genome.wustl.edu 37 3 170198910 170198910 + Silent SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 170198910 170198910 G A SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known silent c.1161 p.A387 1.000 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 tier1 - - 19 0 0.00 28 11 28.21 SLC7A3 0 genome.wustl.edu 37 X 70148789 70148789 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 X 70148789 70148789 G C SNP SLC7A3 ENST00000298085 human ensembl 74_37 -1 known missense c.434 p.S145C 0.997 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A3 HGNC ENSG00000165349 tier1 - - 22 0 0.00 11 6 35.29 SLC9A6 0 genome.wustl.edu 37 X 135098866 135098866 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 X 135098866 135098866 G T SNP SLC9A6 ENST00000370695 human ensembl 74_37 +1 known silent c.1299 p.L433 0.955 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC ENSG00000198689 tier1 - - 33 0 0.00 30 4 11.76 SLCO1B3 0 genome.wustl.edu 37 12 21028192 21028192 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 21028192 21028192 G C SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.751 p.D251H 0.957 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 tier1 - - 154 0 0.00 130 58 30.69 SLCO4C1 0 genome.wustl.edu 37 5 101592993 101592993 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 5 101592993 101592993 G A SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known missense c.1295 p.A432V 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 tier1 - - 37 0 0.00 29 4 12.12 SMC4 0 genome.wustl.edu 37 3 160135727 160135727 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 160135727 160135727 G C SNP SMC4 ENST00000344722 human ensembl 74_37 +1 known missense c.1654 p.E552Q 0.906 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 19 0 0.00 37 5 11.90 SMYD1 0 genome.wustl.edu 37 2 88405881 88405881 + Missense_Mutation SNP A A C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 88405881 88405881 A C SNP SMYD1 ENST00000419482 human ensembl 74_37 +1 known missense c.1019 p.E340A 1.000 NULL pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC ENSG00000115593 tier1 - - 81 0 0.00 72 7 8.86 SMYD4 0 genome.wustl.edu 37 17 1703288 1703288 + Missense_Mutation SNP A A G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 1703288 1703288 A G SNP SMYD4 ENST00000305513 human ensembl 74_37 -1 known missense c.1400 p.I467T 0.000 pfam_SET_dom pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 tier1 - - 41 0 0.00 29 15 34.09 SNRPG 0 genome.wustl.edu 37 2 70514409 70514409 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 70514409 70514409 G T SNP SNRPG ENST00000454893 human ensembl 74_37 -1 putative missense c.275 p.T92N 0.002 NULL pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPG HGNC ENSG00000143977 tier1 - - 27 0 0.00 67 5 6.94 SNX29 0 genome.wustl.edu 37 16 12571616 12571616 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 16 12571616 12571616 G T SNP SNX29 ENST00000306030 human ensembl 74_37 +1 known missense c.923 p.R308L 0.962 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 40 0 0.00 49 3 5.77 SPANXN3 0 genome.wustl.edu 37 X 142596676 142596676 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 X 142596676 142596676 C G SNP SPANXN3 ENST00000370503 human ensembl 74_37 -1 known missense c.394 p.E132Q 0.002 NULL pfam_SPANX_prot - no_errors SPANXN3 HGNC ENSG00000189252 tier1 - - 47 0 0.00 33 14 29.79 SPATA17 0 genome.wustl.edu 37 1 217856693 217856693 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 217856693 217856693 G A SNP SPATA17 ENST00000366933 human ensembl 74_37 +1 known missense c.385 p.D129N 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors SPATA17 HGNC ENSG00000162814 tier1 - - 32 0 0.00 35 5 12.50 SPATA9 0 genome.wustl.edu 37 5 95018302 95018302 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 5 95018302 95018302 G T SNP SPATA9 ENST00000274432 human ensembl 74_37 -1 known missense c.80 p.A27E 0.149 NULL NULL - no_errors SPATA9 HGNC ENSG00000145757 tier1 - - 46 0 0.00 63 4 5.97 SPDL1 0 genome.wustl.edu 37 5 169021623 169021623 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 5 169021623 169021623 G T SNP SPDL1 ENST00000265295 human ensembl 74_37 +1 known missense c.829 p.V277F 1.000 NULL NULL - no_errors SPDL1 HGNC ENSG00000040275 tier1 - - 30 0 0.00 22 4 15.38 SPEG 0 genome.wustl.edu 37 2 220357321 220357321 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 220357321 220357321 G T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.9617 p.R3206L 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 52 0 0.00 32 2 5.88 SPTA1 0 genome.wustl.edu 37 1 158581100 158581100 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 158581100 158581100 G T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.7214 p.S2405Y 0.715 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 55 0 0.00 51 4 7.27 SPTBN4 0 genome.wustl.edu 37 19 41003463 41003463 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 19 41003463 41003463 C T SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.736 p.R246C 1.000 pirsf_Spectrin_bsu,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 43 0 0.00 32 2 5.88 SRGAP2B 0 genome.wustl.edu 37 1 144013980 144013980 + RNA SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 144013980 144013980 C G SNP SRGAP2B ENST00000467933 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SRGAP2B HGNC ENSG00000196369 tier1 - - 85 0 0.00 85 12 12.37 SSB 0 genome.wustl.edu 37 2 170662222 170662222 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 170662222 170662222 G T SNP SSB ENST00000260956 human ensembl 74_37 +1 known missense c.218 p.S73I 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors SSB HGNC ENSG00000138385 tier1 - - 59 0 0.00 56 4 6.67 SSBP4 0 genome.wustl.edu 37 19 18543996 18543996 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 19 18543996 18543996 G C SNP SSBP4 ENST00000270061 human ensembl 74_37 +1 known missense c.964 p.E322Q 1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP4 HGNC ENSG00000130511 tier1 - - 20 0 0.00 22 7 24.14 STAB2 0 genome.wustl.edu 37 12 104156110 104156110 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 104156110 104156110 G T SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.7418 p.G2473V 0.724 NULL pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 84 0 0.00 65 4 5.80 STAC2 0 genome.wustl.edu 37 17 37381698 37381698 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 37381698 37381698 G T SNP STAC2 ENST00000333461 human ensembl 74_37 -1 known missense c.58 p.P20T 0.997 NULL pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox - no_errors STAC2 HGNC ENSG00000141750 tier1 - - 47 0 0.00 24 4 14.29 STARD13 0 genome.wustl.edu 37 13 33692207 33692207 + Missense_Mutation SNP T T C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 13 33692207 33692207 T C SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known missense c.2276 p.Y759C 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 tier1 - - 53 0 0.00 53 13 19.70 STARD13 0 genome.wustl.edu 37 13 33692350 33692350 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 13 33692350 33692350 G T SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known silent c.2133 p.R711 0.977 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 tier1 - - 65 0 0.00 66 4 5.71 STX19 0 genome.wustl.edu 37 3 93733383 93733383 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 93733383 93733383 C G SNP STX19 ENST00000315099 human ensembl 74_37 -1 known missense c.731 p.G244A 1.000 pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX19 HGNC ENSG00000178750 32 0 0.00 56 4 6.67 SUCO 0 genome.wustl.edu 37 1 172558897 172558897 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 172558897 172558897 G T SNP SUCO ENST00000608151 human ensembl 74_37 +1 known missense c.3112 p.D1038Y 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 28 0 0.00 39 3 7.14 SVIL 0 genome.wustl.edu 37 10 29821901 29821901 + Silent SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 10 29821901 29821901 C G SNP SVIL ENST00000355867 human ensembl 74_37 -1 known silent c.1395 p.V465 0.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 tier1 - - 39 0 0.00 32 10 23.81 SYNE1 0 genome.wustl.edu 37 6 152675868 152675868 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 152675868 152675868 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.10852 p.E3618K 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 90 0 0.00 73 17 18.89 SYNE1 0 genome.wustl.edu 37 6 152792774 152792774 + Silent SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 152792774 152792774 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.1590 p.Y530 0.933 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 41 0 0.00 42 10 19.23 SYNE3 0 genome.wustl.edu 37 14 95918609 95918609 + Missense_Mutation SNP T T A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 14 95918609 95918609 T A SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known missense c.1249 p.I417F 0.527 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 tier1 - - 64 0 0.00 25 18 41.86 SYNRG 0 genome.wustl.edu 37 17 35902238 35902238 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 35902238 35902238 G C SNP SYNRG ENST00000339208 human ensembl 74_37 -1 known missense c.3038 p.S1013C 0.937 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 tier1 - - 40 0 0.00 43 21 32.81 SZT2 0 genome.wustl.edu 37 1 43916150 43916150 + Silent SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 43916150 43916150 G A SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known silent c.10127 p.*3376 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 24 0 0.00 23 3 11.54 TANGO6 0 genome.wustl.edu 37 16 68941396 68941396 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 16 68941396 68941396 G T SNP TANGO6 ENST00000261778 human ensembl 74_37 +1 known missense c.1718 p.G573V 0.688 pfam_DUF2435,superfamily_ARM-type_fold pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold - no_errors TANGO6 HGNC ENSG00000103047 47 0 0.00 51 4 7.27 TAS2R64P 0 genome.wustl.edu 37 12 11230569 11230569 + RNA SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 11230569 11230569 G C SNP TAS2R64P ENST00000534866 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors TAS2R64P HGNC ENSG00000256274 tier1 - - 41 0 0.00 51 6 10.53 TATDN2 0 genome.wustl.edu 37 3 10290925 10290925 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 10290925 10290925 G T SNP TATDN2 ENST00000287652 human ensembl 74_37 +1 known missense c.41 p.S14I 0.993 NULL pfam_TatD_family - no_errors TATDN2 HGNC ENSG00000157014 tier1 - - 57 0 0.00 51 4 7.27 TBCK 0 genome.wustl.edu 37 4 107229985 107229985 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 107229985 107229985 G T SNP TBCK ENST00000273980 human ensembl 74_37 -1 known missense c.133 p.L45I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_dom,pfscan_Rhodanese-like_dom - no_errors TBCK HGNC ENSG00000145348 tier1 - - 36 0 0.00 51 5 8.93 TBRG4 0 genome.wustl.edu 37 7 45139978 45139978 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 7 45139978 45139978 G T SNP TBRG4 ENST00000258770 human ensembl 74_37 -1 known silent c.1842 p.G614 0.005 pfam_RAP,smart_RAP pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors TBRG4 HGNC ENSG00000136270 54 0 0.00 37 4 9.76 TCF20 0 genome.wustl.edu 37 22 42557353 42557353 + Missense_Mutation SNP C C A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 22 42557353 42557353 C A SNP TCF20 ENST00000335626 human ensembl 74_37 -1 known missense c.5811 p.W1937C 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 tier1 - - 87 0 0.00 47 8 14.55 TDRD5 0 genome.wustl.edu 37 1 179659934 179659934 + Silent SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 179659934 179659934 G A SNP TDRD5 ENST00000444136 human ensembl 74_37 +1 known silent c.2964 p.L988 0.993 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 tier1 - - 30 0 0.00 36 9 20.00 TELO2 0 genome.wustl.edu 37 16 1549238 1549238 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 16 1549238 1549238 G T SNP TELO2 ENST00000262319 human ensembl 74_37 +1 known missense c.837 p.E279D 0.003 NULL pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold - no_errors TELO2 HGNC ENSG00000100726 54 0 0.00 50 4 7.41 TG 0 genome.wustl.edu 37 8 134125817 134125817 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 8 134125817 134125817 C G SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.7724 p.S2575C 0.999 pfam_CarbesteraseB,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 - - 45 0 0.00 46 9 16.36 TGFBR3 0 genome.wustl.edu 37 1 92193264 92193264 + Silent SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 92193264 92193264 G C SNP TGFBR3 ENST00000212355 human ensembl 74_37 -1 known silent c.837 p.V279 1.000 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TGFBR3 HGNC ENSG00000069702 tier1 - - 37 0 0.00 29 6 17.14 TGFBR3 0 genome.wustl.edu 37 1 92224237 92224237 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 92224237 92224237 G A SNP TGFBR3 ENST00000212355 human ensembl 74_37 -1 known missense c.317 p.S106F 1.000 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TGFBR3 HGNC ENSG00000069702 tier1 - - 65 0 0.00 48 6 11.11 THEMIS2 0 genome.wustl.edu 37 1 28211733 28211733 + RNA SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 28211733 28211733 G T SNP THEMIS2 ENST00000492877 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors THEMIS2 HGNC ENSG00000130775 tier1 - - 31 0 0.00 46 5 9.80 THSD7B 0 genome.wustl.edu 37 2 138320820 138320820 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 138320820 138320820 G T SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.3177 p.E1059D 0.994 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 32 0 0.00 42 4 8.70 TIMM17A 0 genome.wustl.edu 37 1 201932800 201932800 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 201932800 201932800 G T SNP TIMM17A ENST00000367287 human ensembl 74_37 +1 known missense c.247 p.V83F 0.972 pfam_Tim17/Tim22/Tim23/PMP24,tigrfam_Tim17 pfam_Tim17/Tim22/Tim23/PMP24,tigrfam_Tim17 - no_errors TIMM17A HGNC ENSG00000134375 tier1 - - 54 0 0.00 57 6 9.52 TMC3 0 genome.wustl.edu 37 15 81644086 81644086 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 81644086 81644086 G T SNP TMC3 ENST00000359440 human ensembl 74_37 -1 known silent c.1032 p.S344 1.000 NULL pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 tier1 - - 26 0 0.00 31 4 11.43 TMEM104 0 genome.wustl.edu 37 17 72781707 72781707 + Silent SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 72781707 72781707 C T SNP TMEM104 ENST00000335464 human ensembl 74_37 +1 known silent c.132 p.V44 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors TMEM104 HGNC ENSG00000109066 tier1 - - 38 0 0.00 36 28 43.75 TMEM132C 0 genome.wustl.edu 37 12 128899806 128899806 + Silent SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 128899806 128899806 C T SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known silent c.615 p.F205 0.953 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 54 0 0.00 22 4 15.38 TMEM200C 0 genome.wustl.edu 37 18 5890236 5890236 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 18 5890236 5890236 G T SNP TMEM200C ENST00000383490 human ensembl 74_37 -1 known silent c.1827 p.A609 0.004 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200C HGNC ENSG00000206432 tier1 - - 54 0 0.00 57 4 6.56 TMEM241 0 genome.wustl.edu 37 18 20932195 20932195 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 18 20932195 20932195 G T SNP TMEM241 ENST00000383233 human ensembl 74_37 -1 known missense c.730 p.P244T 0.998 NULL NULL - no_errors TMEM241 HGNC ENSG00000134490 tier1 - - 45 0 0.00 94 7 6.93 TMEM30A 0 genome.wustl.edu 37 6 75974998 75974998 + Silent SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 75974998 75974998 G A SNP TMEM30A ENST00000230461 human ensembl 74_37 -1 known silent c.402 p.Y134 0.953 pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk - no_errors TMEM30A HGNC ENSG00000112697 tier1 - - 33 0 0.00 45 14 23.73 TMEM9B 0 genome.wustl.edu 37 11 8969870 8969870 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 8969870 8969870 G T SNP TMEM9B ENST00000534025 human ensembl 74_37 -1 known missense c.594 p.S198R 1.000 NULL pfam_TMEM9 - no_errors TMEM9B HGNC ENSG00000175348 tier1 - - 66 0 0.00 59 4 6.35 TNK2 0 genome.wustl.edu 37 3 195595154 195595154 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 195595154 195595154 G T SNP TNK2 ENST00000381916 human ensembl 74_37 -1 known missense c.2204 p.A735E 0.012 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 51 0 0.00 40 3 6.98 TNRC6C 0 genome.wustl.edu 37 17 76061018 76061018 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 76061018 76061018 G T SNP TNRC6C ENST00000335749 human ensembl 74_37 +1 known missense c.2602 p.A868S 1.000 pfam_Argonaute_hook_dom pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 18 0 0.00 38 2 5.00 TNRC6C 0 genome.wustl.edu 37 17 76083023 76083023 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 76083023 76083023 G T SNP TNRC6C ENST00000335749 human ensembl 74_37 +1 known silent c.3642 p.P1214 0.999 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 33 0 0.00 50 3 5.66 TP53 0 genome.wustl.edu 37 17 7577106 7577106 + Missense_Mutation SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 7577106 7577106 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.832 p.P278S 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 350 0 0.00 171 65 27.54 TPX2 0 genome.wustl.edu 37 20 30380547 30380547 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 20 30380547 30380547 G C SNP TPX2 ENST00000340513 human ensembl 74_37 +1 known missense c.1531 p.E511Q 1.000 pfam_TPX2_central_dom pfam_TPX2_central_dom,pfam_Aurora-A-bd,pfam_TPX2_dom_C - no_errors TPX2 HGNC ENSG00000088325 tier1 - - 32 0 0.00 21 13 38.24 TRAF3IP1 0 genome.wustl.edu 37 2 239257449 239257449 + Nonsense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 239257449 239257449 G T SNP TRAF3IP1 ENST00000373327 human ensembl 74_37 +1 known nonsense c.1327 p.E443* 0.280 NULL NULL - no_errors TRAF3IP1 HGNC ENSG00000204104 tier1 - - 55 0 0.00 54 4 6.90 TRAPPC4 0 genome.wustl.edu 37 11 118890872 118890872 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 118890872 118890872 C G SNP TRAPPC4 ENST00000533632 human ensembl 74_37 +1 known missense c.363 p.I121M 0.998 pfam_Sybindin,superfamily_Longin-like_dom pfam_Sybindin,pfam_Sedlin,superfamily_Longin-like_dom - no_errors TRAPPC4 HGNC ENSG00000196655 25 0 0.00 29 3 9.38 TRIM42 0 genome.wustl.edu 37 3 140401907 140401907 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 140401907 140401907 C G SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known missense c.945 p.F315L 0.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 tier1 - - 43 0 0.00 54 13 19.40 TRIM9 0 genome.wustl.edu 37 14 51464729 51464729 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 14 51464729 51464729 G T SNP TRIM9 ENST00000360392 human ensembl 74_37 -1 known missense c.1642 p.R548S 0.994 NULL pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 42 0 0.00 36 2 5.26 TRMT13 0 genome.wustl.edu 37 1 100609662 100609662 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 100609662 100609662 G T SNP TRMT13 ENST00000370141 human ensembl 74_37 +1 known silent c.780 p.V260 0.966 pfam_Methyltransferase_TRM13 pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors TRMT13 HGNC ENSG00000122435 tier1 - - 85 0 0.00 75 5 6.25 TRMU 0 genome.wustl.edu 37 22 46752874 46752874 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 22 46752874 46752874 G T SNP TRMU ENST00000290846 human ensembl 74_37 +1 known missense c.1237 p.D413Y 0.005 NULL pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase - no_errors TRMU HGNC ENSG00000100416 tier1 - - 63 0 0.00 25 11 30.56 TRPM3 0 genome.wustl.edu 37 9 73164474 73164474 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 9 73164474 73164474 G T SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known silent c.3736 p.R1246 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 tier1 - - 59 0 0.00 57 4 6.56 TSPYL4 0 genome.wustl.edu 37 6 116574213 116574213 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 116574213 116574213 G T SNP TSPYL4 ENST00000420283 human ensembl 74_37 -1 known missense c.959 p.S320Y 0.861 pfam_NAP_family pfam_NAP_family - no_errors TSPYL4 HGNC ENSG00000187189 42 0 0.00 44 4 8.33 TTC22 0 genome.wustl.edu 37 1 55253446 55253446 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 55253446 55253446 G T SNP TTC22 ENST00000371276 human ensembl 74_37 -1 known missense c.677 p.A226D 0.986 NULL smart_TPR_repeat - no_errors TTC22 HGNC ENSG00000006555 tier1 - - 105 0 0.00 64 4 5.88 TTC23 0 genome.wustl.edu 37 15 99768848 99768848 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 99768848 99768848 G C SNP TTC23 ENST00000262074 human ensembl 74_37 -1 known missense c.70 p.H24D 0.006 NULL smart_TPR_repeat - no_errors TTC23 HGNC ENSG00000103852 tier1 - - 55 0 0.00 46 7 13.21 TTC3 0 genome.wustl.edu 37 21 38462544 38462544 + Missense_Mutation SNP C C A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 21 38462544 38462544 C A SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.438 p.F146L 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 tier1 - - 38 0 0.00 35 6 14.63 TTI1 0 genome.wustl.edu 37 20 36625251 36625251 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 20 36625251 36625251 G T SNP TTI1 ENST00000373447 human ensembl 74_37 -1 known silent c.2898 p.I966 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 26 0 0.00 37 2 5.13 TTN 0 genome.wustl.edu 37 2 179658217 179658217 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 179658217 179658217 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.1450 p.D484N 1.000 pfam_Titin_Z,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 59 0 0.00 61 9 12.86 TTN 0 genome.wustl.edu 37 2 179592947 179592947 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 179592947 179592947 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.15872 p.S5291Y 0.991 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 24 0 0.00 26 2 7.14 TTN-AS1 0 genome.wustl.edu 37 2 179510630 179510630 + RNA SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 179510630 179510630 G A SNP TTN-AS1 ENST00000418062 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTN-AS1 HGNC ENSG00000237298 tier1 - - 92 0 0.00 68 14 17.07 TTYH3 0 genome.wustl.edu 37 7 2691859 2691859 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 7 2691859 2691859 G T SNP TTYH3 ENST00000258796 human ensembl 74_37 +1 known missense c.910 p.A304S 0.001 pfam_Tweety pfam_Tweety - no_errors TTYH3 HGNC ENSG00000136295 14 0 0.00 21 3 12.50 UBE2D3 0 genome.wustl.edu 37 4 103720628 103720628 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 103720628 103720628 C G SNP UBE2D3 ENST00000357194 human ensembl 74_37 -1 known missense c.340 p.D114H 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2D3 HGNC ENSG00000109332 tier1 - - 30 0 0.00 21 9 30.00 USH2A 0 genome.wustl.edu 37 1 216144008 216144008 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 216144008 216144008 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.6916 p.V2306I 0.998 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 58 0 0.00 23 17 41.46 USP1 0 genome.wustl.edu 37 1 62907260 62907260 + Missense_Mutation SNP A A G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 62907260 62907260 A G SNP USP1 ENST00000339950 human ensembl 74_37 +1 known missense c.272 p.Y91C 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP1 HGNC ENSG00000162607 tier1 - - 27 0 0.00 27 11 28.95 USP33 0 genome.wustl.edu 37 1 78177527 78177527 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 78177527 78177527 G T SNP USP33 ENST00000357428 human ensembl 74_37 -1 known missense c.2404 p.P802T 1.000 smart_Pept_C19_DUSP pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP33 HGNC ENSG00000077254 tier1 - - 40 0 0.00 50 4 7.41 USP38 0 genome.wustl.edu 37 4 144106812 144106812 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 144106812 144106812 G T SNP USP38 ENST00000307017 human ensembl 74_37 +1 known missense c.209 p.R70L 0.998 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP38 HGNC ENSG00000170185 tier1 - - 39 0 0.00 34 4 10.53 USP40 0 genome.wustl.edu 37 2 234429703 234429703 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 234429703 234429703 G T SNP USP40 ENST00000450966 human ensembl 74_37 -1 known missense c.2292 p.H764Q 0.930 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP40 HGNC ENSG00000085982 tier1 - - 29 0 0.00 31 6 16.22 VDAC1 0 genome.wustl.edu 37 5 133316708 133316708 + RNA DEL T T - TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 5 133316708 133316708 T - DEL VDAC1 ENST00000492324 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors VDAC1 HGNC ENSG00000213585 tier1 12 0 0.00 15 4 21.05 VEZT 0 genome.wustl.edu 37 12 95656735 95656735 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 95656735 95656735 G T SNP VEZT ENST00000436874 human ensembl 74_37 +1 known silent c.312 p.L104 1.000 NULL NULL - no_errors VEZT HGNC ENSG00000028203 tier1 - - 62 0 0.00 47 4 7.84 VPS11 0 genome.wustl.edu 37 11 118942398 118942398 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 118942398 118942398 G T SNP VPS11 ENST00000300793 human ensembl 74_37 +1 known missense c.726 p.Q242H 1.000 superfamily_WD40_repeat_dom,pirsf_VPS11 pfam_VPS11_C,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_RING,pirsf_VPS11,pfscan_Znf_RING - no_errors VPS11 HGNC ENSG00000160695 tier1 - - 107 0 0.00 85 5 5.56 VPS13A 0 genome.wustl.edu 37 9 79910572 79910572 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 9 79910572 79910572 G T SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.3622 p.A1208S 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 tier1 - - 49 0 0.00 43 4 8.51 VPS13C 0 genome.wustl.edu 37 15 62147080 62147080 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 62147080 62147080 G T SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.11150 p.A3717D 0.056 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 tier1 rs150119821 - 41 0 0.00 48 5 9.43 VPS72 0 genome.wustl.edu 37 1 151158058 151158058 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 151158058 151158058 G T SNP VPS72 ENST00000368892 human ensembl 74_37 -1 known silent c.309 p.T103 0.999 pfam_YL1 pfam_YL1,pfam_YL1_C - no_errors VPS72 HGNC ENSG00000163159 tier1 - - 42 0 0.00 33 5 13.16 VRK1 0 genome.wustl.edu 37 14 97322574 97322574 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 14 97322574 97322574 G T SNP VRK1 ENST00000216639 human ensembl 74_37 +1 known missense c.817 p.D273Y 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors VRK1 HGNC ENSG00000100749 53 0 0.00 34 2 5.56 VSX1 0 genome.wustl.edu 37 20 25053267 25053267 + Missense_Mutation SNP A A G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 20 25053267 25053267 A G SNP VSX1 ENST00000409285 human ensembl 74_37 -1 known missense c.821 p.L274S 0.004 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors VSX1 HGNC ENSG00000100987 tier1 - - 75 0 0.00 44 16 26.67 VWA3B 0 genome.wustl.edu 37 2 98852870 98852870 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 98852870 98852870 G T SNP VWA3B ENST00000477737 human ensembl 74_37 +1 known missense c.2446 p.A816S 0.000 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 50 0 0.00 42 3 6.67 WDPCP 0 genome.wustl.edu 37 2 63815466 63815466 + RNA SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 2 63815466 63815466 G T SNP WDPCP ENST00000409835 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors WDPCP HGNC ENSG00000143951 tier1 - - 44 0 0.00 40 4 9.09 WDR17 0 genome.wustl.edu 37 4 177052858 177052858 + Missense_Mutation SNP G G C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 177052858 177052858 G C SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known missense c.1139 p.G380A 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 tier1 - - 94 0 0.00 69 7 9.21 WDR3 0 genome.wustl.edu 37 1 118477290 118477290 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 118477290 118477290 G T SNP WDR3 ENST00000349139 human ensembl 74_37 +1 known silent c.366 p.L122 0.997 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC ENSG00000065183 tier1 - - 36 0 0.00 37 4 9.76 WNT10B 0 genome.wustl.edu 37 12 49364273 49364273 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 12 49364273 49364273 G T SNP WNT10B ENST00000301061 human ensembl 74_37 -1 known missense c.40 p.L14I 1.000 NULL pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt10 - no_errors WNT10B HGNC ENSG00000169884 22 0 0.00 28 4 12.50 YAE1D1 0 genome.wustl.edu 37 7 39610125 39610125 + Missense_Mutation SNP A A G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 7 39610125 39610125 A G SNP YAE1D1 ENST00000223273 human ensembl 74_37 +1 known missense c.150 p.I50M 0.395 pfam_Essential_protein_Yae1_N pfam_Essential_protein_Yae1_N - no_errors YAE1D1 HGNC ENSG00000241127 tier1 - - 50 0 0.00 57 15 20.83 YAP1 0 genome.wustl.edu 37 11 102076665 102076665 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 11 102076665 102076665 C T SNP YAP1 ENST00000282441 human ensembl 74_37 +1 known missense c.844 p.P282S 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors YAP1 HGNC ENSG00000137693 tier1 - - 23 0 0.00 11 3 21.43 YTHDC1 0 genome.wustl.edu 37 4 69203304 69203304 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 69203304 69203304 G T SNP YTHDC1 ENST00000344157 human ensembl 74_37 -1 known missense c.445 p.P149T 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 tier1 - - 60 0 0.00 68 4 5.56 ZBBX 0 genome.wustl.edu 37 3 166958600 166958600 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 166958600 166958600 G T SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known missense c.2501 p.P834Q 0.015 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 tier1 - - 33 0 0.00 64 5 7.25 ZBBX 0 genome.wustl.edu 37 3 166958594 166958594 + Nonsense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 166958594 166958594 G T SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known nonsense c.2507 p.S836* 0.001 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 30 0 0.00 63 4 5.97 ZDHHC20 0 genome.wustl.edu 37 13 21975811 21975811 + Missense_Mutation SNP T T C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 13 21975811 21975811 T C SNP ZDHHC20 ENST00000400590 human ensembl 74_37 -1 known missense c.454 p.M152V 1.000 pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC20 HGNC ENSG00000180776 tier1 - - 59 0 0.00 62 14 18.42 ZDHHC7 0 genome.wustl.edu 37 16 85012850 85012850 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 16 85012850 85012850 G T SNP ZDHHC7 ENST00000344861 human ensembl 74_37 -1 known missense c.593 p.P198Q 1.000 pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC7 HGNC ENSG00000153786 tier1 - - 31 0 0.00 33 4 10.81 ZFR 0 genome.wustl.edu 37 5 32385747 32385747 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 5 32385747 32385747 G T SNP ZFR ENST00000265069 human ensembl 74_37 -1 known missense c.2508 p.S836R 1.000 pfam_DZF,smart_DZF pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 tier1 - - 37 0 0.00 56 4 6.67 ZIC4 0 genome.wustl.edu 37 3 147124224 147124224 + RNA SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 147124224 147124224 C T SNP ZIC4 ENST00000464144 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors ZIC4 HGNC ENSG00000174963 tier1 - - 21 0 0.00 28 6 17.65 ZNF106 0 genome.wustl.edu 37 15 42749300 42749300 + Missense_Mutation SNP T T C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 42749300 42749300 T C SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known missense c.104 p.Y35C 1.000 smart_Znf_C2H2-like pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 tier1 - - 43 0 0.00 19 13 40.62 ZNF107 0 genome.wustl.edu 37 7 64167974 64167974 + Missense_Mutation SNP A A G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 7 64167974 64167974 A G SNP ZNF107 ENST00000344930 human ensembl 74_37 +1 known missense c.1292 p.K431R 0.860 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF107 HGNC ENSG00000196247 tier1 - - 29 0 0.00 20 11 35.48 ZNF18 0 genome.wustl.edu 37 17 11881932 11881932 + Missense_Mutation SNP T T C TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 17 11881932 11881932 T C SNP ZNF18 ENST00000322748 human ensembl 74_37 -1 known missense c.992 p.E331G 0.510 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF18 HGNC ENSG00000154957 tier1 - - 56 0 0.00 28 4 12.50 ZNF292 0 genome.wustl.edu 37 6 87968551 87968551 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 6 87968551 87968551 C T SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.5204 p.S1735L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 22 0 0.00 34 3 8.11 ZNF337 0 genome.wustl.edu 37 20 25655911 25655911 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 20 25655911 25655911 G T SNP ZNF337 ENST00000252979 human ensembl 74_37 -1 known silent c.2013 p.L671 0.003 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF337 HGNC ENSG00000130684 tier1 - - 51 0 0.00 69 4 5.48 ZNF365 0 genome.wustl.edu 37 10 64416228 64416228 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 10 64416228 64416228 G T SNP ZNF365 ENST00000410046 human ensembl 74_37 +1 known missense c.1202 p.G401V 0.013 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 60 0 0.00 75 4 5.06 ZNF484 0 genome.wustl.edu 37 9 95608570 95608570 + Silent SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 9 95608570 95608570 G T SNP ZNF484 ENST00000395506 human ensembl 74_37 -1 known silent c.2505 p.S835 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF484 HGNC ENSG00000127081 tier1 - - 72 0 0.00 68 4 5.56 ZNF510 0 genome.wustl.edu 37 9 99521732 99521732 + Nonsense_Mutation SNP A A T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 9 99521732 99521732 A T SNP ZNF510 ENST00000223428 human ensembl 74_37 -1 known nonsense c.1380 p.Y460* 0.568 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF510 HGNC ENSG00000081386 tier1 - - 50 0 0.00 47 22 31.88 ZNF518B 0 genome.wustl.edu 37 4 10446497 10446497 + Silent SNP G G A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 4 10446497 10446497 G A SNP ZNF518B ENST00000326756 human ensembl 74_37 -1 known silent c.1456 p.L486 0.094 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 25 0 0.00 22 2 8.33 ZNF525 0 genome.wustl.edu 37 19 53884541 53884541 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 19 53884541 53884541 C T SNP ZNF525 ENST00000474037 human ensembl 74_37 +1 putative missense c.709 p.H237Y 0.460 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF525 HGNC ENSG00000203326 tier1 - - 70 0 0.00 41 8 16.33 ZNF598 0 genome.wustl.edu 37 16 2053040 2053040 + Silent SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 16 2053040 2053040 C T SNP ZNF598 ENST00000431526 human ensembl 74_37 -1 known silent c.417 p.R139 1.000 smart_Znf_C2H2-like superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 17 0 0.00 4 5 55.56 ZNF608 0 genome.wustl.edu 37 5 123982500 123982500 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 5 123982500 123982500 G T SNP ZNF608 ENST00000306315 human ensembl 74_37 -1 known missense c.3577 p.L1193I 1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 tier1 - - 90 0 0.00 88 5 5.38 ZNF670 0 genome.wustl.edu 37 1 247201560 247201560 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 1 247201560 247201560 G T SNP ZNF670 ENST00000366503 human ensembl 74_37 -1 known missense c.361 p.H121N 0.055 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF670 HGNC ENSG00000135747 tier1 - - 32 0 0.00 61 4 6.15 ZNF724P 0 genome.wustl.edu 37 19 23414089 23414089 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 19 23414089 23414089 C T SNP ZNF724P ENST00000597037 human ensembl 74_37 -1 putative missense c.205 p.E69K 0.013 pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF724P HGNC ENSG00000196081 tier1 - - 85 0 0.00 62 5 7.46 ZNF770 0 genome.wustl.edu 37 15 35274883 35274883 + Missense_Mutation SNP C C A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 35274883 35274883 C A SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known missense c.753 p.K251N 0.013 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 tier1 - - 27 0 0.00 13 23 63.89 ZNF770 0 genome.wustl.edu 37 15 35274940 35274940 + Silent SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 35274940 35274940 C T SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known silent c.696 p.L232 0.992 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 tier1 - - 36 0 0.00 29 26 47.27 ZNF770 0 genome.wustl.edu 37 15 35274965 35274965 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 35274965 35274965 C G SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known missense c.671 p.G224A 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 tier1 - - 38 0 0.00 29 26 47.27 ZNF770 0 genome.wustl.edu 37 15 35275079 35275079 + Missense_Mutation SNP C C A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 35275079 35275079 C A SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known missense c.557 p.R186M 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 tier1 - - 25 0 0.00 25 23 47.92 ZNF770 0 genome.wustl.edu 37 15 35275110 35275110 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 35275110 35275110 C G SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known missense c.526 p.D176H 0.269 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 tier1 - - 31 0 0.00 29 22 43.14 ZNF770 0 genome.wustl.edu 37 15 35275135 35275135 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 35275135 35275135 C G SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known missense c.501 p.K167N 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 tier1 - - 30 0 0.00 31 21 40.38 ZNF770 0 genome.wustl.edu 37 15 35275177 35275177 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 35275177 35275177 C T SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known missense c.459 p.M153I 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 tier1 - - 38 0 0.00 23 19 45.24 ZNF770 0 genome.wustl.edu 37 15 35275194 35275194 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 35275194 35275194 C G SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known missense c.442 p.D148H 0.974 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 tier1 - - 35 0 0.00 24 20 45.45 ZNF770 0 genome.wustl.edu 37 15 35275227 35275227 + Nonsense_Mutation SNP C C A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 35275227 35275227 C A SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known nonsense c.409 p.E137* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 tier1 - - 52 0 0.00 27 22 44.90 ZNF770 0 genome.wustl.edu 37 15 35275230 35275230 + Nonsense_Mutation SNP C C A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 35275230 35275230 C A SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known nonsense c.406 p.E136* 0.768 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 tier1 - - 51 0 0.00 29 24 45.28 ZNF770 0 genome.wustl.edu 37 15 35275289 35275289 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 35275289 35275289 C G SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known missense c.347 p.R116T 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 tier1 - - 46 0 0.00 43 35 44.87 ZNF770 0 genome.wustl.edu 37 15 35275292 35275292 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 35275292 35275292 C T SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known missense c.344 p.R115K 0.981 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 tier1 - - 46 0 0.00 43 33 43.42 ZNF770 0 genome.wustl.edu 37 15 35275345 35275345 + Silent SNP C C A TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 35275345 35275345 C A SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known silent c.291 p.V97 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 tier1 - - 46 0 0.00 41 26 38.81 ZNF770 0 genome.wustl.edu 37 15 35275357 35275357 + Silent SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 35275357 35275357 C T SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known silent c.279 p.L93 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 tier1 - - 46 0 0.00 44 23 34.33 ZNF770 0 genome.wustl.edu 37 15 35275442 35275442 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 35275442 35275442 C G SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known missense c.194 p.R65T 0.981 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 tier1 - - 78 0 0.00 52 25 32.47 ZNF770 0 genome.wustl.edu 37 15 35275464 35275464 + Missense_Mutation SNP C C T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 15 35275464 35275464 C T SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known missense c.172 p.D58N 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 tier1 - - 86 0 0.00 51 23 31.08 ZNF823 0 genome.wustl.edu 37 19 11835025 11835025 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 19 11835025 11835025 C G SNP ZNF823 ENST00000341191 human ensembl 74_37 -1 known missense c.175 p.A59P 0.001 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF823 HGNC ENSG00000197933 tier1 - - 70 0 0.00 50 17 25.37 ZNF860 0 genome.wustl.edu 37 3 32031299 32031299 + Nonsense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 3 32031299 32031299 C G SNP ZNF860 ENST00000360311 human ensembl 74_37 +1 known nonsense c.728 p.S243* 0.003 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF860 HGNC ENSG00000197385 tier1 - - 80 0 0.00 53 45 45.92 ZSWIM4 0 genome.wustl.edu 37 19 13919937 13919937 + Silent SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b2011b65-8359-46c8-aeb2-dc9072492e6e 6e8584ca-e2e1-4e55-b776-23a453fc32e0 19 13919937 13919937 C G SNP ZSWIM4 ENST00000254323 human ensembl 74_37 +1 known silent c.915 p.L305 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 tier1 - - 32 0 0.00 14 6 30.00