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 ABCA8 0 genome.wustl.edu 37 17 66929322 66929322 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 17 66929322 66929322 G A SNP ABCA8 ENST00000430352 human ensembl 74_37 -1 known missense c.557 p.A186V 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 36 0 0.00 24 2 7.69 ABCC2 0 genome.wustl.edu 37 10 101560160 101560160 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 10 101560160 101560160 C T SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known missense c.1049 p.A350V 0.970 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 tier1 - - 46 0 0.00 52 4 7.14 ACTA2 0 genome.wustl.edu 37 10 90706962 90706962 + RNA SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 10 90706962 90706962 G C SNP ACTA2 ENST00000488967 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ACTA2 HGNC ENSG00000107796 tier1 - - 62 0 0.00 33 16 32.65 ACTR5 0 genome.wustl.edu 37 20 37383788 37383788 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 20 37383788 37383788 G C SNP ACTR5 ENST00000243903 human ensembl 74_37 +1 known missense c.964 p.E322Q 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR5 HGNC ENSG00000101442 66 0 0.00 43 7 14.00 ADAM12 0 genome.wustl.edu 37 10 127708322 127708322 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 10 127708322 127708322 G C SNP ADAM12 ENST00000368679 human ensembl 74_37 -1 known missense c.2611 p.H871D 0.000 NULL 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_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM12 HGNC ENSG00000148848 tier1 - - 25 0 0.00 18 11 37.93 ADAM5 0 genome.wustl.edu 37 8 39233345 39233345 + RNA SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 8 39233345 39233345 C T SNP ADAM5 ENST00000359790 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ADAM5 HGNC ENSG00000196115 tier1 - - 68 0 0.00 66 25 27.47 ADAMTS12 0 genome.wustl.edu 37 5 33615933 33615933 + Missense_Mutation SNP C C A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 5 33615933 33615933 C A SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.2388 p.Q796H 1.000 pfam_ADAM_spacer1 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 18 0 0.00 34 2 5.56 ADAMTS3 0 genome.wustl.edu 37 4 73181672 73181672 + Missense_Mutation SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 4 73181672 73181672 G T SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known missense c.1502 p.P501Q 1.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 tier1 - - 44 0 0.00 42 4 8.70 ADSL 0 genome.wustl.edu 37 22 40757555 40757555 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 22 40757555 40757555 G A SNP ADSL ENST00000454266 human ensembl 74_37 +1 known missense c.968 p.R323H 1.000 pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,tigrfam_Pur_lyase pfam_Fumarate_lyase_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Pur_lyase - no_errors ADSL HGNC ENSG00000239900 tier1 - - 15 0 0.00 25 10 28.57 AFAP1L1 0 genome.wustl.edu 37 5 148689634 148689635 + Frame_Shift_Ins INS - - G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 5 148689634 148689635 - G INS AFAP1L1 ENST00000296721 human ensembl 74_37 +1 known frame_shift_ins c.863_864 p.A290fs 1.000:1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L1 HGNC ENSG00000157510 tier1 50 0 0.00 34 2 5.56 AFF3 0 genome.wustl.edu 37 2 100203676 100203676 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 2 100203676 100203676 C G SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.2606 p.R869T 0.053 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 tier1 - - 118 0 0.00 88 34 27.87 AFM 0 genome.wustl.edu 37 4 74357670 74357670 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 4 74357670 74357670 G C SNP AFM ENST00000226355 human ensembl 74_37 +1 known missense c.925 p.E309Q 0.011 pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_ALB/AFP/VDB,prints_Alpha-fetoprotein - no_errors AFM HGNC ENSG00000079557 tier1 - - 29 0 0.00 17 18 51.43 AHCTF1 0 genome.wustl.edu 37 1 247076573 247076573 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 247076573 247076573 C G SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known missense c.544 p.D182H 1.000 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 tier1 - - 91 0 0.00 58 27 31.76 AHCTF1 0 genome.wustl.edu 37 1 247076585 247076585 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 247076585 247076585 C G SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known missense c.532 p.D178H 1.000 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 tier1 - - 87 0 0.00 53 20 27.03 AHNAK 0 genome.wustl.edu 37 11 62295933 62295933 + Missense_Mutation SNP T T C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 11 62295933 62295933 T C SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.5956 p.T1986A 0.009 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 108 0 0.00 112 7 5.79 AKAP11 0 genome.wustl.edu 37 13 42877567 42877567 + Missense_Mutation SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 13 42877567 42877567 G T SNP AKAP11 ENST00000025301 human ensembl 74_37 +1 known missense c.4685 p.R1562L 0.000 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 tier1 - - 27 0 0.00 23 3 11.54 AKAP13 0 genome.wustl.edu 37 15 86122760 86122760 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 15 86122760 86122760 G C SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.1461 p.M487I 0.002 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 tier1 - - 13 0 0.00 11 7 38.89 AKAP9 0 genome.wustl.edu 37 7 91670145 91670145 + Missense_Mutation SNP A A T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 7 91670145 91670145 A T SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.4886 p.E1629V 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 tier1 - - 46 0 0.00 26 7 21.21 AMER3 0 genome.wustl.edu 37 2 131520638 131520638 + Frame_Shift_Del DEL C C - TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 2 131520638 131520638 C - DEL AMER3 ENST00000321420 human ensembl 74_37 +1 known frame_shift_del c.993 p.Q333fs 0.000 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 tier1 49 0 0.00 33 2 5.71 ANO5 0 genome.wustl.edu 37 11 22281209 22281209 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 11 22281209 22281209 G A SNP ANO5 ENST00000324559 human ensembl 74_37 +1 known missense c.1552 p.G518R 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 tier1 - - 84 0 0.00 56 16 21.62 ANP32AP1 0 genome.wustl.edu 37 15 35530356 35530357 + RNA INS - - T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 15 35530356 35530357 - T INS ANP32AP1 ENST00000560832 human ensembl 74_37 +1 known rna NULL NULL 0.997:0.996 - - - no_errors ANP32AP1 HGNC ENSG00000259516 tier1 22 0 0.00 14 2 12.50 ANXA4 0 genome.wustl.edu 37 2 70033541 70033541 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 2 70033541 70033541 G A SNP ANXA4 ENST00000394295 human ensembl 74_37 +1 known missense c.217 p.E73K 0.998 pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV,prints_AnnexinV - no_errors ANXA4 HGNC ENSG00000196975 tier1 - - 32 0 0.00 34 19 35.85 APAF1 0 genome.wustl.edu 37 12 99065330 99065330 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 12 99065330 99065330 G A SNP APAF1 ENST00000551964 human ensembl 74_37 +1 known silent c.1626 p.E542 1.000 pirsf_Apoptotic_pept-activating_1 pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ENSG00000120868 tier1 - - 88 0 0.00 64 12 15.79 ARHGEF18 0 genome.wustl.edu 37 19 7505006 7505006 + Silent SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 19 7505006 7505006 C T SNP ARHGEF18 ENST00000359920 human ensembl 74_37 +1 known silent c.180 p.S60 0.964 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 tier1 - - 56 0 0.00 33 16 32.65 ARHGEF38 0 genome.wustl.edu 37 4 106576802 106576802 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 4 106576802 106576802 G C SNP ARHGEF38 ENST00000420470 human ensembl 74_37 +1 putative missense c.1156 p.E386Q 0.016 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom 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 - - 88 0 0.00 63 27 30.00 ARID1B 0 genome.wustl.edu 37 6 157528371 157528371 + Silent SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 6 157528371 157528371 C T SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known silent c.6216 p.S2072 0.940 pfam_DUF3518 pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 39 0 0.00 38 2 5.00 ARID5B 0 genome.wustl.edu 37 10 63851192 63851192 + Missense_Mutation SNP T T G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 10 63851192 63851192 T G SNP ARID5B ENST00000279873 human ensembl 74_37 +1 known missense c.1970 p.F657C 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 22 0 0.00 30 2 6.25 ARL2BP 0 genome.wustl.edu 37 16 57280047 57280047 + Missense_Mutation SNP A A C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 16 57280047 57280047 A C SNP ARL2BP ENST00000219204 human ensembl 74_37 +1 known missense c.94 p.I32L 1.000 pfam_ARF-like_2-bdp_dom pfam_ARF-like_2-bdp_dom - no_errors ARL2BP HGNC ENSG00000102931 tier1 - - 66 0 0.00 59 13 18.06 ARMC4 0 genome.wustl.edu 37 10 28224072 28224072 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 10 28224072 28224072 C T SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known missense c.2362 p.E788K 0.989 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 tier1 - - 70 0 0.00 47 15 24.19 ATP2C1 0 genome.wustl.edu 37 3 130694321 130694321 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 3 130694321 130694321 C T SNP ATP2C1 ENST00000393221 human ensembl 74_37 +1 known missense c.1661 p.A554V 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_PMR1 pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_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_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C1 HGNC ENSG00000017260 tier1 - - 24 0 0.00 26 4 13.33 AVL9 0 genome.wustl.edu 37 7 32591907 32591907 + Missense_Mutation SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 7 32591907 32591907 G T SNP AVL9 ENST00000404479 human ensembl 74_37 +1 known missense c.529 p.G177C 1.000 pfam_ABL9/DENND6_dom pfam_ABL9/DENND6_dom,pfam_DUF2347 - no_errors AVL9 HGNC ENSG00000105778 tier1 - - 80 0 0.00 51 4 7.27 BAI1 0 genome.wustl.edu 37 8 143546245 143546245 + Frame_Shift_Del DEL C C - TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 8 143546245 143546245 C 0 DEL BAI1 ENST00000323289 human ensembl 74_37 +1 known frame_shift_del c.686 p.R231fs 0.000 NULL pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 10 0 0.00 4 2 33.33 BIRC6 0 genome.wustl.edu 37 2 32693623 32693623 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 2 32693623 32693623 G C SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.5899 p.D1967H 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 tier1 - - 68 0 0.00 70 19 21.35 BMS1P5 0 genome.wustl.edu 37 10 48919831 48919831 + RNA SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 10 48919831 48919831 G A SNP BMS1P5 ENST00000436180 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors BMS1P5 HGNC ENSG00000204164 tier1 - - 250 0 0.00 155 83 34.87 C11orf74 0 genome.wustl.edu 37 11 36669655 36669655 + Nonsense_Mutation SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 11 36669655 36669655 G T SNP C11orf74 ENST00000334307 human ensembl 74_37 +1 known nonsense c.448 p.E150* 0.019 NULL NULL - no_errors C11orf74 HGNC ENSG00000166352 tier1 - - 50 0 0.00 63 4 5.97 C12orf36 0 genome.wustl.edu 37 12 13529360 13529360 + Splice_Site SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 12 13529360 13529360 C G SNP C12orf36 ENST00000318426 human ensembl 74_37 -1 known splice_site c.1-1 e1-1 0.000 - - - no_errors C12orf36 HGNC ENSG00000180861 17 0 0.00 8 3 27.27 C12orf77 0 genome.wustl.edu 37 12 25149214 25149214 + Missense_Mutation SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 12 25149214 25149214 G T SNP C12orf77 ENST00000549828 human ensembl 74_37 -1 known missense c.63 p.S21R 0.000 NULL NULL - no_errors C12orf77 HGNC ENSG00000226397 tier1 - - 45 0 0.00 59 4 6.35 C1QL3 0 genome.wustl.edu 37 10 16562630 16562630 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 10 16562630 16562630 G A SNP C1QL3 ENST00000298943 human ensembl 74_37 -1 known silent c.435 p.F145 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL3 HGNC ENSG00000165985 tier1 - - 21 0 0.00 28 9 24.32 C22orf31 0 genome.wustl.edu 37 22 29455150 29455150 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 22 29455150 29455150 C G SNP C22orf31 ENST00000216071 human ensembl 74_37 -1 known missense c.453 p.E151D 1.000 NULL NULL - no_errors C22orf31 HGNC ENSG00000100249 tier1 - - 35 0 0.00 42 12 22.22 C3P1 0 genome.wustl.edu 37 19 10157199 10157199 + RNA SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 19 10157199 10157199 G C SNP C3P1 ENST00000495140 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C3P1 HGNC ENSG00000167798 tier1 - - 32 0 0.00 38 10 20.83 C5orf34 0 genome.wustl.edu 37 5 43492341 43492341 + Missense_Mutation SNP A A G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 5 43492341 43492341 A G SNP C5orf34 ENST00000306862 human ensembl 74_37 -1 known missense c.1556 p.I519T 0.979 NULL NULL - no_errors C5orf34 HGNC ENSG00000172244 tier1 rs145050535 - 40 0 0.00 38 14 26.92 C5orf54 0 genome.wustl.edu 37 5 159822044 159822044 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 5 159822044 159822044 C T SNP C5orf54 ENST00000408953 human ensembl 74_37 -1 known missense c.454 p.E152K 0.982 NULL superfamily_RNaseH-like_dom - no_errors C5orf54 HGNC ENSG00000221886 tier1 - - 44 0 0.00 20 12 37.50 C9orf24 0 genome.wustl.edu 37 9 34381385 34381385 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 9 34381385 34381385 C G SNP C9orf24 ENST00000297623 human ensembl 74_37 -1 known missense c.454 p.E152Q 0.998 NULL NULL - no_errors C9orf24 HGNC ENSG00000164972 tier1 - - 34 0 0.00 9 6 40.00 C9orf3 0 genome.wustl.edu 37 9 97766233 97766233 + RNA SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 9 97766233 97766233 G C SNP C9orf3 ENST00000478603 human ensembl 74_37 +1 known rna NULL NULL 0.871 - - - no_errors C9orf3 HGNC ENSG00000148120 tier1 - - 22 0 0.00 15 8 34.78 CAMTA2 0 genome.wustl.edu 37 17 4886089 4886089 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 17 4886089 4886089 C T SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known missense c.371 p.R124Q 1.000 pfam_CG-1_dom pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 32 0 0.00 24 2 7.69 CCDC146 0 genome.wustl.edu 37 7 76903894 76903894 + Silent SNP A A T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 7 76903894 76903894 A T SNP CCDC146 ENST00000285871 human ensembl 74_37 +1 known silent c.1365 p.V455 0.003 NULL NULL - no_errors CCDC146 HGNC ENSG00000135205 tier1 - - 22 0 0.00 16 15 48.39 CCDC22 0 genome.wustl.edu 37 X 49104664 49104664 + Missense_Mutation SNP T T A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca X 49104664 49104664 T A SNP CCDC22 ENST00000376227 human ensembl 74_37 +1 known missense c.1105 p.C369S 0.982 pfam_DUF812 pfam_DUF812 - no_errors CCDC22 HGNC ENSG00000101997 tier1 - - 10 0 0.00 5 5 45.45 CCPG1 0 genome.wustl.edu 37 15 55652422 55652422 + Missense_Mutation SNP C C A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 15 55652422 55652422 C A SNP CCPG1 ENST00000310958 human ensembl 74_37 -1 known missense c.1549 p.A517S 1.000 NULL NULL - no_errors CCPG1 HGNC ENSG00000260916 tier1 - - 52 0 0.00 44 4 8.33 CCT8L2 0 genome.wustl.edu 37 22 17072515 17072515 + Missense_Mutation SNP T T G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 22 17072515 17072515 T G SNP CCT8L2 ENST00000359963 human ensembl 74_37 -1 known missense c.926 p.K309T 0.000 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 - - 43 0 0.00 55 16 22.54 CD163 0 genome.wustl.edu 37 12 7637735 7637735 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 12 7637735 7637735 C G SNP CD163 ENST00000359156 human ensembl 74_37 -1 known missense c.2736 p.K912N 0.448 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 tier1 - - 24 0 0.00 17 11 39.29 CD5L 0 genome.wustl.edu 37 1 157805731 157805731 + Silent SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 157805731 157805731 G T SNP CD5L ENST00000368174 human ensembl 74_37 -1 known silent c.270 p.L90 0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD5L HGNC ENSG00000073754 45 0 0.00 54 3 5.26 CDH4 0 genome.wustl.edu 37 20 60470103 60470103 + Silent SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 20 60470103 60470103 G T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known silent c.1188 p.T396 0.924 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 tier1 - - 44 0 0.00 48 4 7.69 CFH 0 genome.wustl.edu 37 1 196683032 196683032 + Nonsense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 196683032 196683032 C T SNP CFH ENST00000367429 human ensembl 74_37 +1 known nonsense c.1504 p.Q502* 0.920 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 tier1 - - 41 0 0.00 30 14 31.82 CHD7 0 genome.wustl.edu 37 8 61743025 61743025 + Nonsense_Mutation SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 8 61743025 61743025 G T SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known nonsense c.3667 p.E1223* 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,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 CHD7 HGNC ENSG00000171316 tier1 - - 29 0 0.00 43 4 8.51 CLEC4C 0 genome.wustl.edu 37 12 7882268 7882268 + Missense_Mutation SNP T T C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 12 7882268 7882268 T C SNP CLEC4C ENST00000360345 human ensembl 74_37 -1 known missense c.566 p.E189G 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4C HGNC ENSG00000198178 tier1 - - 47 0 0.00 52 9 14.75 CLRN1-AS1 0 genome.wustl.edu 37 3 150784127 150784127 + RNA SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 3 150784127 150784127 C G SNP CLRN1-AS1 ENST00000465576 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CLRN1-AS1 HGNC ENSG00000239265 tier1 - - 75 0 0.00 136 19 12.26 CNBD1 0 genome.wustl.edu 37 8 88296977 88296977 + Silent SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 8 88296977 88296977 G T SNP CNBD1 ENST00000518476 human ensembl 74_37 +1 known silent c.843 p.S281 0.000 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 17 0 0.00 24 2 7.69 CNOT1 0 genome.wustl.edu 37 16 58580291 58580291 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 16 58580291 58580291 C G SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.3940 p.E1314Q 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 tier1 - - 26 0 0.00 20 7 25.93 CNTRL 0 genome.wustl.edu 37 9 123888025 123888025 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 9 123888025 123888025 G C SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known missense c.1836 p.K612N 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 tier1 - - 34 0 0.00 22 12 35.29 COL28A1 0 genome.wustl.edu 37 7 7412809 7412809 + Missense_Mutation SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 7 7412809 7412809 G T SNP COL28A1 ENST00000399429 human ensembl 74_37 -1 known missense c.2728 p.R910S 0.927 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 34 0 0.00 21 2 8.70 COL6A5 0 genome.wustl.edu 37 3 130119967 130119967 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 3 130119967 130119967 C G SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.4084 p.H1362D 0.991 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 tier1 - - 36 0 0.00 43 11 20.37 CPA1 0 genome.wustl.edu 37 7 130025029 130025029 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 7 130025029 130025029 G A SNP CPA1 ENST00000011292 human ensembl 74_37 +1 known missense c.830 p.G277D 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA1 HGNC ENSG00000091704 36 0 0.00 52 3 5.45 CSMD2 0 genome.wustl.edu 37 1 34158555 34158555 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 34158555 34158555 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.4027 p.E1343K 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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 CSMD2 HGNC ENSG00000121904 tier1 - - 42 0 0.00 23 16 41.03 CTAGE6 0 genome.wustl.edu 37 7 143453971 143453971 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 7 143453971 143453971 C T SNP CTAGE6 ENST00000470691 human ensembl 74_37 -1 known missense c.781 p.D261N 0.088 superfamily_tRNA-bd_arm superfamily_tRNA-bd_arm - no_errors CTAGE6 HGNC ENSG00000271321 tier1 - - 156 0 0.00 147 19 11.45 CYB5R3 0 genome.wustl.edu 37 22 43027454 43027454 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 22 43027454 43027454 G A SNP CYB5R3 ENST00000361740 human ensembl 74_37 -1 known silent c.255 p.I85 0.772 pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase - no_errors CYB5R3 HGNC ENSG00000100243 tier1 - - 41 0 0.00 62 20 24.39 CYTH2 0 genome.wustl.edu 37 19 48976576 48976576 + Silent SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 19 48976576 48976576 G T SNP CYTH2 ENST00000427476 human ensembl 74_37 +1 known silent c.375 p.V125 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH2 HGNC ENSG00000105443 38 0 0.00 25 4 13.79 DCAF8L2 0 genome.wustl.edu 37 X 27765402 27765402 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca X 27765402 27765402 G A SNP DCAF8L2 ENST00000451261 human ensembl 74_37 +1 known silent c.390 p.E130 0.002 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 8 0 0.00 10 5 33.33 DDX51 0 genome.wustl.edu 37 12 132626103 132626103 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 12 132626103 132626103 G A SNP DDX51 ENST00000397333 human ensembl 74_37 -1 known silent c.1044 p.G348 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_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 - - 25 0 0.00 33 4 10.81 DENND5B 0 genome.wustl.edu 37 12 31540555 31540555 + Silent SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 12 31540555 31540555 G T SNP DENND5B ENST00000306833 human ensembl 74_37 -1 known silent c.3912 p.I1304 0.997 NULL pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 tier1 - - 38 0 0.00 53 4 7.02 DFNB59 0 genome.wustl.edu 37 2 179325074 179325074 + Splice_Site SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 2 179325074 179325074 G A SNP DFNB59 ENST00000375129 human ensembl 74_37 +1 known splice_site c.668-1 e5-1 1.000 - - - no_errors DFNB59 HGNC ENSG00000204311 tier1 - - 46 0 0.00 31 16 34.04 DGKK 0 genome.wustl.edu 37 X 50133337 50133337 + RNA SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca X 50133337 50133337 G C SNP DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors DGKK HGNC ENSG00000204466 tier1 - - 50 0 0.00 38 17 30.91 DPP6 0 genome.wustl.edu 37 7 154684078 154684078 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 7 154684078 154684078 C G SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.2486 p.S829C 0.001 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 tier1 - - 60 0 0.00 76 17 18.28 DUOX2 0 genome.wustl.edu 37 15 45399058 45399058 + Silent SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 15 45399058 45399058 G C SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known silent c.1803 p.T601 0.985 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 tier1 - - 17 0 0.00 15 5 25.00 DUSP6 0 genome.wustl.edu 37 12 89745616 89745616 + Silent SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 12 89745616 89745616 C T SNP DUSP6 ENST00000279488 human ensembl 74_37 -1 known silent c.201 p.Q67 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP,pfscan_Rhodanese-like_dom,prints_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP6 HGNC ENSG00000139318 tier1 - - 10 0 0.00 11 6 35.29 EIF3J 0 genome.wustl.edu 37 15 44843706 44843706 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 15 44843706 44843706 G A SNP EIF3J ENST00000261868 human ensembl 74_37 +1 known missense c.280 p.E94K 1.000 pfam_eIF3j pfam_eIF3j - no_errors EIF3J HGNC ENSG00000104131 tier1 - - 51 0 0.00 43 24 35.82 ENSG00000197813 0 genome.wustl.edu 37 19 49835424 49835424 + RNA SNP A A G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 19 49835424 49835424 A G SNP ENSG00000197813 ENST00000358234 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTC-301O7.4 Clone_based_vega_gene ENSG00000197813 61 0 0.00 70 5 6.67 ENSG00000203849 0 genome.wustl.edu 37 1 142620925 142620925 + RNA SNP A A T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 142620925 142620925 A T SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.208 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 tier1 - - 98 0 0.00 50 11 18.03 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 64283 64283 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca GL000212.1 64283 64283 G A SNP ENSG00000212857 ENST00000391545 human ensembl 74_37 +1 known missense c.32 p.R11Q NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 tier1 - - 31 0 0.00 22 11 33.33 ENSG00000225411 0 genome.wustl.edu 37 9 68409852 68409852 + RNA SNP C C A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 9 68409852 68409852 C A SNP ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.293 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 tier1 - - 28 0 0.00 10 5 33.33 ENSG00000233539 0 genome.wustl.edu 37 7 46729005 46729005 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 7 46729005 46729005 C T SNP ENSG00000233539 ENST00000451905 human ensembl 74_37 -1 putative missense c.311 p.R104H 0.000 NULL NULL - no_errors AC011294.3 Clone_based_vega_gene ENSG00000233539 tier1 - - 57 0 0.00 38 22 36.67 ENSG00000255622 0 genome.wustl.edu 37 5 140536041 140536041 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 5 140536041 140536041 G A SNP ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known silent c.465 p.L155 0.938 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB17 Uniprot_gn ENSG00000255622 tier1 - - 29 0 0.00 14 10 41.67 ENSG00000267165 0 genome.wustl.edu 37 18 11852303 11852303 + RNA SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 18 11852303 11852303 G C SNP ENSG00000267165 ENST00000586474 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-78A19.3 Clone_based_vega_gene ENSG00000267165 tier1 - - 33 0 0.00 11 21 65.62 ENSG00000268948 0 genome.wustl.edu 37 19 58204033 58204033 + Frame_Shift_Del DEL A A - TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 19 58204033 58204033 A - DEL ENSG00000268948 ENST00000597520 human ensembl 74_37 -1 novel frame_shift_del c.96 p.F32fs 0.045 NULL NULL - no_errors AC004017.1 Clone_based_ensembl_gene ENSG00000268948 tier1 16 0 0.00 20 2 9.09 ENSG00000272656 0 genome.wustl.edu 37 3 139068148 139068149 + RNA INS - - T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 3 139068148 139068149 - T INS ENSG00000272656 ENST00000608472 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-219D15.3 Clone_based_vega_gene ENSG00000272656 tier1 47 0 0.00 74 6 7.50 EPS8 0 genome.wustl.edu 37 12 15811043 15811043 + Silent SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 12 15811043 15811043 C T SNP EPS8 ENST00000281172 human ensembl 74_37 -1 known silent c.1071 p.L357 1.000 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_SH3_domain - no_errors EPS8 HGNC ENSG00000151491 tier1 - - 49 0 0.00 27 11 28.95 EXD2 0 genome.wustl.edu 37 14 69707767 69707767 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 14 69707767 69707767 C G SNP EXD2 ENST00000312994 human ensembl 74_37 +1 known missense c.1816 p.Q606E 0.997 NULL pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD2 HGNC ENSG00000081177 tier1 - - 17 0 0.00 20 9 31.03 EXD2 0 genome.wustl.edu 37 14 69707805 69707805 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 14 69707805 69707805 C G SNP EXD2 ENST00000312994 human ensembl 74_37 +1 known missense c.1854 p.I618M 0.925 NULL pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD2 HGNC ENSG00000081177 16 0 0.00 16 8 33.33 F10 0 genome.wustl.edu 37 13 113803401 113803401 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 13 113803401 113803401 G A SNP F10 ENST00000375559 human ensembl 74_37 +1 known missense c.1037 p.R346H 0.000 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,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 F10 HGNC ENSG00000126218 tier1 - - 17 0 0.00 21 23 52.27 FAM120C 0 genome.wustl.edu 37 X 54143073 54143073 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca X 54143073 54143073 C T SNP FAM120C ENST00000375180 human ensembl 74_37 -1 known missense c.2217 p.M739I 1.000 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 tier1 - - 31 0 0.00 32 20 38.46 FAM219B 0 genome.wustl.edu 37 15 75198649 75198649 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 15 75198649 75198649 G A SNP FAM219B ENST00000357635 human ensembl 74_37 -1 known missense c.272 p.S91L 0.111 NULL NULL - no_errors FAM219B HGNC ENSG00000178761 tier1 - - 72 0 0.00 58 15 20.55 FANCB 0 genome.wustl.edu 37 X 14883004 14883004 + Missense_Mutation SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca X 14883004 14883004 G T SNP FANCB ENST00000324138 human ensembl 74_37 -1 known missense c.629 p.T210N 0.304 NULL NULL - no_errors FANCB HGNC ENSG00000181544 tier1 - - 41 0 0.00 45 4 8.16 FAT4 0 genome.wustl.edu 37 4 126336956 126336956 + Missense_Mutation SNP C C A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 4 126336956 126336956 C A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.6838 p.L2280I 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 26 0 0.00 24 9 27.27 FBXL16 0 genome.wustl.edu 37 16 746901 746901 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 16 746901 746901 C T SNP FBXL16 ENST00000324361 human ensembl 74_37 -1 known missense c.505 p.E169K 1.000 superfamily_F-box_dom superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL16 HGNC ENSG00000127585 tier1 - - 25 0 0.00 14 12 46.15 FBXL4 0 genome.wustl.edu 37 6 99347302 99347302 + Missense_Mutation SNP A A T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 6 99347302 99347302 A T SNP FBXL4 ENST00000229971 human ensembl 74_37 -1 known missense c.1159 p.F387I 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL4 HGNC ENSG00000112234 tier1 - - 22 0 0.00 18 6 25.00 FBXO3 0 genome.wustl.edu 37 11 33770429 33770429 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 11 33770429 33770429 C T SNP FBXO3 ENST00000265651 human ensembl 74_37 -1 known missense c.942 p.M314I 1.000 pfam_ApaG_domain,superfamily_ApaG_domain,pfscan_ApaG_domain pfam_ApaG_domain,pfam_F-box_dom,superfamily_ApaG_domain,superfamily_F-box_dom,smart_F-box_dom,smart_SMI1/KNR4_like_dom,pfscan_ApaG_domain,pfscan_F-box_dom - no_errors FBXO3 HGNC ENSG00000110429 tier1 - - 63 0 0.00 62 24 27.91 FBXW8 0 genome.wustl.edu 37 12 117402587 117402587 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 12 117402587 117402587 G A SNP FBXW8 ENST00000309909 human ensembl 74_37 +1 known missense c.763 p.E255K 1.000 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 - - 67 0 0.00 62 5 7.46 FCN3 0 genome.wustl.edu 37 1 27695957 27695957 + Missense_Mutation SNP T T C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 27695957 27695957 T C SNP FCN3 ENST00000270879 human ensembl 74_37 -1 known missense c.670 p.S224G 0.981 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN3 HGNC ENSG00000142748 19 0 0.00 17 2 10.53 FGF13 0 genome.wustl.edu 37 X 137717719 137717719 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca X 137717719 137717719 C T SNP FGF13 ENST00000370603 human ensembl 74_37 -1 known missense c.530 p.R177Q 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,prints_Fibroblast_GF_fam - no_errors FGF13 HGNC ENSG00000129682 tier1 - - 60 0 0.00 78 18 18.75 FKBP9 0 genome.wustl.edu 37 7 33014253 33014253 + Silent SNP T T C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 7 33014253 33014253 T C SNP FKBP9 ENST00000538336 human ensembl 74_37 +1 known silent c.405 p.N135 0.990 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP9 HGNC ENSG00000122642 103 0 0.00 77 5 6.10 FLNA 0 genome.wustl.edu 37 X 153581174 153581174 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca X 153581174 153581174 G A SNP FLNA ENST00000369850 human ensembl 74_37 -1 known silent c.6345 p.I2115 0.996 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 tier1 - - 23 0 0.00 20 16 44.44 FMO3 0 genome.wustl.edu 37 1 171083374 171083374 + Missense_Mutation SNP T T C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 171083374 171083374 T C SNP FMO3 ENST00000367755 human ensembl 74_37 +1 known missense c.1055 p.L352S 0.997 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_2 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 41 0 0.00 28 2 6.67 FOCAD 0 genome.wustl.edu 37 9 20951037 20951037 + Missense_Mutation SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 9 20951037 20951037 G T SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known missense c.3991 p.V1331F 0.224 pfam_DUF3028,superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 tier1 - - 86 0 0.00 65 4 5.80 GABRA6 0 genome.wustl.edu 37 5 161117302 161117302 + Missense_Mutation SNP C C A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 5 161117302 161117302 C A SNP GABRA6 ENST00000274545 human ensembl 74_37 +1 known missense c.769 p.L257I 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 tier1 - - 43 0 0.00 16 27 62.79 GOLGA8I 0 genome.wustl.edu 37 15 23263636 23263636 + Silent SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 15 23263636 23263636 C T SNP GOLGA8I ENST00000450802 human ensembl 74_37 +1 known silent c.1245 p.A415 0.989 NULL NULL - no_errors GOLGA8I HGNC ENSG00000153666 tier1 - - 188 0 0.00 58 55 48.67 GPATCH11 0 genome.wustl.edu 37 2 37311692 37311692 + Frame_Shift_Del DEL G G - TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 2 37311692 37311692 G - DEL GPATCH11 ENST00000409774 human ensembl 74_37 +1 known frame_shift_del c.32 p.G12fs 0.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH11 HGNC ENSG00000152133 tier1 17 0 0.00 23 2 8.00 GPR112 0 genome.wustl.edu 37 X 135432293 135432293 + Missense_Mutation SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca X 135432293 135432293 G T SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.6428 p.G2143V 0.009 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 rs150281542 - 48 0 0.00 24 6 20.00 GRB10 0 genome.wustl.edu 37 7 50686896 50686896 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 7 50686896 50686896 C T SNP GRB10 ENST00000398812 human ensembl 74_37 -1 known missense c.748 p.A250T 1.000 smart_Ras-assoc,pfscan_Ras-assoc pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB10 HGNC ENSG00000106070 47 0 0.00 30 2 6.25 GSDMC 0 genome.wustl.edu 37 8 130772830 130772830 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 8 130772830 130772830 G C SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known missense c.682 p.L228V 0.006 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 tier1 - - 96 0 0.00 62 32 34.04 HIVEP3 0 genome.wustl.edu 37 1 41979259 41979259 + Missense_Mutation SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 41979259 41979259 G T SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.5633 p.S1878Y 0.005 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 tier1 - - 42 0 0.00 35 4 10.26 HOOK2 0 genome.wustl.edu 37 19 12876825 12876825 + Silent SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 19 12876825 12876825 C G SNP HOOK2 ENST00000397668 human ensembl 74_37 -1 known silent c.1515 p.L505 1.000 pfam_Hook-related_fam,superfamily_UBA-like pfam_Hook-related_fam,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 35 0 0.00 30 2 6.25 HUWE1 0 genome.wustl.edu 37 X 53575129 53575129 + Missense_Mutation SNP T T C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca X 53575129 53575129 T C SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.10141 p.S3381G 0.415 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 50 0 0.00 24 6 20.00 IBSP 0 genome.wustl.edu 37 4 88732910 88732910 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 4 88732910 88732910 G A SNP IBSP ENST00000226284 human ensembl 74_37 +1 known missense c.802 p.A268T 0.878 pfam_BSP_II pfam_BSP_II - no_errors IBSP HGNC ENSG00000029559 tier1 - - 9 0 0.00 9 4 30.77 IBTK 0 genome.wustl.edu 37 6 82924304 82924304 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 6 82924304 82924304 C T SNP IBTK ENST00000306270 human ensembl 74_37 -1 known missense c.1844 p.C615Y 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 60 0 0.00 48 4 7.69 IFIT3 0 genome.wustl.edu 37 10 91099326 91099326 + Missense_Mutation SNP A A G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 10 91099326 91099326 A G SNP IFIT3 ENST00000371811 human ensembl 74_37 +1 known missense c.914 p.E305G 0.031 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT3 HGNC ENSG00000119917 tier1 - - 16 0 0.00 13 11 45.83 IKBIP 0 genome.wustl.edu 37 12 99020063 99020063 + Missense_Mutation SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 12 99020063 99020063 G T SNP IKBIP ENST00000299157 human ensembl 74_37 -1 known missense c.779 p.S260Y 0.666 NULL NULL - no_errors IKBIP HGNC ENSG00000166130 tier1 - - 30 0 0.00 20 3 13.04 IKBKAP 0 genome.wustl.edu 37 9 111659447 111659447 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 9 111659447 111659447 C G SNP IKBKAP ENST00000374647 human ensembl 74_37 -1 known missense c.2482 p.E828Q 1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 tier1 - - 46 0 0.00 41 15 26.79 IKBKAP 0 genome.wustl.edu 37 9 111670649 111670649 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 9 111670649 111670649 C G SNP IKBKAP ENST00000374647 human ensembl 74_37 -1 known missense c.1396 p.G466R 1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 tier1 - - 37 0 0.00 13 27 67.50 IL1R1 0 genome.wustl.edu 37 2 102781461 102781461 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 2 102781461 102781461 G A SNP IL1R1 ENST00000233946 human ensembl 74_37 +1 known missense c.289 p.V97M 0.003 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I-typ,prints_IL-1_rcpt_I/II-typ - no_errors IL1R1 HGNC ENSG00000115594 tier1 - - 84 0 0.00 56 24 30.00 INPP4B 0 genome.wustl.edu 37 4 143159120 143159120 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 4 143159120 143159120 C T SNP INPP4B ENST00000509777 human ensembl 74_37 -1 known missense c.733 p.D245N 1.000 NULL superfamily_C2_dom - no_errors INPP4B HGNC ENSG00000109452 tier1 - - 45 0 0.00 32 24 42.86 ITCH 0 genome.wustl.edu 37 20 33049899 33049899 + Nonsense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 20 33049899 33049899 C T SNP ITCH ENST00000262650 human ensembl 74_37 +1 known nonsense c.1420 p.Q474* 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors ITCH HGNC ENSG00000078747 tier1 - - 67 0 0.00 74 7 8.64 JAKMIP2 0 genome.wustl.edu 37 5 147011063 147011064 + Frame_Shift_Del DEL TC TC - TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 5 147011063 147011064 TC - DEL JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known frame_shift_del c.1788_1787 p.R596fs 1.000:1.000 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 tier1 36 0 0.00 23 2 8.00 KCNU1 0 genome.wustl.edu 37 8 36788577 36788577 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 8 36788577 36788577 G A SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known missense c.2845 p.D949N 0.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 73 0 0.00 54 3 5.26 KCTD15 0 genome.wustl.edu 37 19 34304803 34304803 + RNA SNP C C A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 19 34304803 34304803 C A SNP KCTD15 ENST00000592363 human ensembl 74_37 +1 putative rna NULL NULL 0.018 - - - no_errors KCTD15 HGNC ENSG00000153885 tier1 - - 20 0 0.00 15 8 34.78 KDM5C 0 genome.wustl.edu 37 X 53246370 53246370 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca X 53246370 53246370 G A SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known silent c.612 p.S204 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 tier1 - - 52 0 0.00 48 12 20.00 KIAA1009 0 genome.wustl.edu 37 6 84925088 84925088 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 6 84925088 84925088 C G SNP KIAA1009 ENST00000403245 human ensembl 74_37 -1 known missense c.415 p.E139Q 1.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 tier1 - - 38 0 0.00 33 13 27.66 KIAA2013 0 genome.wustl.edu 37 1 11982770 11982770 + Frame_Shift_Del DEL G G - TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 11982770 11982770 G - DEL KIAA2013 ENST00000376576 human ensembl 74_37 -1 known frame_shift_del c.1810 p.L604fs 1.000 pfam_DUF2152 pfam_DUF2152 - no_errors KIAA2013 HGNC ENSG00000116685 tier1 24 0 0.00 15 10 40.00 KIF13B 0 genome.wustl.edu 37 8 28997678 28997678 + Nonsense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 8 28997678 28997678 G A SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known nonsense c.2515 p.R839* 0.917 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 tier1 - - 24 0 0.00 8 6 42.86 KIF5B 0 genome.wustl.edu 37 10 32311947 32311947 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 10 32311947 32311947 G A SNP KIF5B ENST00000302418 human ensembl 74_37 -1 known silent c.1743 p.G581 1.000 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC ENSG00000170759 tier1 - - 58 0 0.00 38 16 29.63 KLF8 0 genome.wustl.edu 37 X 56295889 56295889 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca X 56295889 56295889 C T SNP KLF8 ENST00000468660 human ensembl 74_37 +1 known missense c.725 p.S242L 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF8 HGNC ENSG00000102349 tier1 - - 73 0 0.00 56 16 22.22 KMT2A 0 genome.wustl.edu 37 11 118374498 118374498 + Frame_Shift_Del DEL T T - TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 11 118374498 118374498 T - DEL KMT2A ENST00000389506 human ensembl 74_37 +1 known frame_shift_del c.7882 p.F2629fs 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 31 0 0.00 20 2 9.09 KRTAP10-3 0 genome.wustl.edu 37 21 45978578 45978578 + Silent SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 21 45978578 45978578 G T SNP KRTAP10-3 ENST00000391620 human ensembl 74_37 -1 known silent c.21 p.S7 0.800 NULL NULL - no_errors KRTAP10-3 HGNC ENSG00000212935 tier1 - - 99 0 0.00 56 4 6.67 LARGE 0 genome.wustl.edu 37 22 33673135 33673135 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 22 33673135 33673135 C G SNP LARGE ENST00000354992 human ensembl 74_37 -1 known missense c.1984 p.V662L 0.968 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 tier1 - - 26 0 0.00 41 6 12.77 LDB2 0 genome.wustl.edu 37 4 16900009 16900009 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 4 16900009 16900009 C G SNP LDB2 ENST00000304523 human ensembl 74_37 -1 known missense c.100 p.E34Q 1.000 NULL NULL - no_errors LDB2 HGNC ENSG00000169744 tier1 - - 59 0 0.00 45 9 16.67 LILRA4 0 genome.wustl.edu 37 19 54848413 54848413 + Silent SNP T T G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 19 54848413 54848413 T G SNP LILRA4 ENST00000291759 human ensembl 74_37 -1 known silent c.954 p.G318 0.008 pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA4 HGNC ENSG00000239961 tier1 - - 49 0 0.00 49 20 28.99 LINC00324 0 genome.wustl.edu 37 17 8125983 8125983 + RNA SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 17 8125983 8125983 C G SNP LINC00324 ENST00000315707 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00324 HGNC ENSG00000178977 tier1 - - 22 0 0.00 5 11 68.75 LINC01001 0 genome.wustl.edu 37 11 134704 134704 + RNA SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 11 134704 134704 G A SNP LINC01001 ENST00000527683 human ensembl 74_37 -1 known rna NULL NULL 0.141 - - - no_errors LINC01001 HGNC ENSG00000230724 tier1 - - 12 0 0.00 2 3 60.00 LINC01020 0 genome.wustl.edu 37 5 5059708 5059708 + RNA SNP A A C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 5 5059708 5059708 A C SNP LINC01020 ENST00000508201 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC01020 HGNC ENSG00000215231 tier1 - - 45 0 0.00 37 15 28.85 LOC643201 0 genome.wustl.edu 37 5 175574547 175574547 + RNA SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 5 175574547 175574547 G C SNP LOC643201 ENST00000513919 human ensembl 74_37 -1 known rna NULL NULL 0.281 - - - no_errors RP11-844P9.2 Clone_based_vega_gene ENSG00000248596 17 0 0.00 9 2 18.18 LPAL2 0 genome.wustl.edu 37 6 160908400 160908400 + RNA SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 6 160908400 160908400 C T SNP LPAL2 ENST00000335388 human ensembl 74_37 -1 known rna NULL NULL 0.465 - - - no_errors LPAL2 HGNC ENSG00000213071 tier1 - - 59 0 0.00 38 18 32.14 LRRC34 0 genome.wustl.edu 37 3 169526492 169526492 + Missense_Mutation SNP A A G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 3 169526492 169526492 A G SNP LRRC34 ENST00000446859 human ensembl 74_37 -1 known missense c.181 p.C61R 0.400 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC34 HGNC ENSG00000171757 tier1 - - 52 0 0.00 67 17 20.24 LRRC37A6P 0 genome.wustl.edu 37 10 27536913 27536913 + RNA SNP T T C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 10 27536913 27536913 T C SNP LRRC37A6P ENST00000284414 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors LRRC37A6P HGNC ENSG00000230445 tier1 - - 45 0 0.00 37 19 33.93 LRRIQ3 0 genome.wustl.edu 37 1 74621391 74621391 + RNA SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 74621391 74621391 C G SNP LRRIQ3 ENST00000495179 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors LRRIQ3 HGNC ENSG00000162620 tier1 - - 135 0 0.00 92 34 26.98 LRRTM2 0 genome.wustl.edu 37 5 138208713 138208713 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 5 138208713 138208713 C G SNP LRRTM2 ENST00000274711 human ensembl 74_37 -1 known missense c.1537 p.E513Q 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM2 HGNC ENSG00000146006 tier1 - - 87 0 0.00 43 26 37.68 MAGEC3 0 genome.wustl.edu 37 X 140985178 140985178 + Missense_Mutation SNP A A T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca X 140985178 140985178 A T SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known missense c.1634 p.K545M 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 tier1 - - 53 0 0.00 53 21 28.38 MAGI3 0 genome.wustl.edu 37 1 113933837 113933837 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 113933837 113933837 C G SNP MAGI3 ENST00000369611 human ensembl 74_37 +1 known missense c.182 p.S61W 0.984 superfamily_PDZ,smart_PDZ,pfscan_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 tier1 - - 30 0 0.00 20 9 31.03 MAML3 0 genome.wustl.edu 37 4 140811293 140811293 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 4 140811293 140811293 G A SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known missense c.1297 p.R433W 0.317 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 tier1 - - 33 0 0.00 26 5 16.13 MAN1B1 0 genome.wustl.edu 37 9 140002044 140002044 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 9 140002044 140002044 G A SNP MAN1B1 ENST00000371589 human ensembl 74_37 +1 known missense c.1826 p.R609H 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1B1 HGNC ENSG00000177239 tier1 - - 29 0 0.00 24 4 14.29 MAP3K15 0 genome.wustl.edu 37 X 19391656 19391656 + Silent SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca X 19391656 19391656 G C SNP MAP3K15 ENST00000338883 human ensembl 74_37 -1 known silent c.2931 p.L977 0.561 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 - no_errors MAP3K15 HGNC ENSG00000180815 tier1 - - 62 0 0.00 51 34 40.00 MAP3K15 0 genome.wustl.edu 37 X 19418722 19418722 + Missense_Mutation SNP T T A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca X 19418722 19418722 T A SNP MAP3K15 ENST00000338883 human ensembl 74_37 -1 known missense c.1904 p.E635V 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 - no_errors MAP3K15 HGNC ENSG00000180815 tier1 - - 87 0 0.00 52 28 35.00 MIR3926-2 0 genome.wustl.edu 37 8 12584775 12584775 + RNA DEL T T - TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 8 12584775 12584775 T - DEL MIR3926-2 ENST00000578598 human ensembl 74_37 -1 known rna NULL NULL 0.074 - - - no_errors MIR3926-2 HGNC ENSG00000266206 tier1 25 0 0.00 15 2 11.76 MLLT3 0 genome.wustl.edu 37 9 20414280 20414280 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 9 20414280 20414280 G A SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.564 p.S188 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 31 0 0.00 24 2 7.69 MORC2 0 genome.wustl.edu 37 22 31330084 31330084 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 22 31330084 31330084 C G SNP MORC2 ENST00000397641 human ensembl 74_37 -1 known missense c.2288 p.R763T 0.850 NULL pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Carb-bd_dom,pfscan_Znf_CW - no_errors MORC2 HGNC ENSG00000133422 tier1 - - 61 0 0.00 79 19 19.39 MROH2B 0 genome.wustl.edu 37 5 41009477 41009477 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 5 41009477 41009477 C G SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.3325 p.E1109Q 0.998 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 24 0 0.00 60 10 14.29 MRPL1 0 genome.wustl.edu 37 4 78830473 78830473 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 4 78830473 78830473 G C SNP MRPL1 ENST00000315567 human ensembl 74_37 +1 known missense c.724 p.E242Q 1.000 pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like,tigrfam_Ribosomal_L1_mit - no_errors MRPL1 HGNC ENSG00000169288 tier1 - - 41 0 0.00 27 4 12.90 MT-CO2 0 genome.wustl.edu 37 MT 7814 7814 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca MT 7814 7814 G A SNP MT-CO2 ENST00000361739 human ensembl 74_37 +1 known missense c.229 p.A77T NULL pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 tier1 - - 956 0 0.00 466 28 5.67 MT-RNR2 0 genome.wustl.edu 37 MT 2101 2101 + RNA SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca MT 2101 2101 C T SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 31 0 0.00 10 4 28.57 MUC4 0 genome.wustl.edu 37 3 195506955 195506955 + Silent SNP T T C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 3 195506955 195506955 T C SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.11496 p.S3832 0.019 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 67 0 0.00 102 6 5.56 MYLK3 0 genome.wustl.edu 37 16 46782047 46782047 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 16 46782047 46782047 G A SNP MYLK3 ENST00000394809 human ensembl 74_37 -1 known missense c.59 p.T20I 0.206 NULL 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 MYLK3 HGNC ENSG00000140795 tier1 - - 47 0 0.00 30 9 23.08 MYO15B 0 genome.wustl.edu 37 17 73612645 73612645 + RNA SNP A A G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 17 73612645 73612645 A G SNP MYO15B ENST00000578382 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MYO15B HGNC ENSG00000266714 60 0 0.00 50 5 9.09 MYO7B 0 genome.wustl.edu 37 2 128324310 128324310 + Missense_Mutation SNP T T G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 2 128324310 128324310 T G SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.378 p.H126Q 0.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 tier1 - - 22 0 0.00 13 8 38.10 NDUFB2-AS1 0 genome.wustl.edu 37 7 140395555 140395556 + RNA DEL TT TT - TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 7 140395555 140395556 TT - DEL NDUFB2-AS1 ENST00000465466 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors NDUFB2-AS1 HGNC ENSG00000240889 tier1 42 0 0.00 42 5 10.64 NEK10 0 genome.wustl.edu 37 3 27183038 27183038 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 3 27183038 27183038 G A SNP NEK10 ENST00000383771 human ensembl 74_37 -1 known missense c.982 p.R328C 0.970 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors NEK10 HGNC ENSG00000163491 tier1 - - 27 0 0.00 33 4 10.81 NID2 0 genome.wustl.edu 37 14 52505686 52505686 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 14 52505686 52505686 G C SNP NID2 ENST00000216286 human ensembl 74_37 -1 known missense c.2036 p.S679C 1.000 pfam_G2_nidogen/fibulin_G2F,superfamily_GFP,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 tier1 - - 37 0 0.00 29 9 23.68 NLRC4 0 genome.wustl.edu 37 2 32476497 32476497 + Missense_Mutation SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 2 32476497 32476497 G T SNP NLRC4 ENST00000360906 human ensembl 74_37 -1 known missense c.436 p.H146N 0.030 superfamily_P-loop_NTPase pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 tier1 - - 17 0 0.00 23 11 32.35 NOTUM 0 genome.wustl.edu 37 17 79915689 79915689 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 17 79915689 79915689 C T SNP NOTUM ENST00000409678 human ensembl 74_37 -1 known missense c.688 p.G230R 1.000 pfam_NOTUM pfam_NOTUM - no_errors NOTUM HGNC ENSG00000185269 tier1 - - 67 0 0.00 27 31 53.45 NOX1 0 genome.wustl.edu 37 X 100105308 100105308 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca X 100105308 100105308 C T SNP NOX1 ENST00000372966 human ensembl 74_37 -1 known missense c.965 p.G322E 1.000 pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl 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 NOX1 HGNC ENSG00000007952 tier1 - - 40 0 0.00 31 12 27.91 NUDT4 0 genome.wustl.edu 37 12 93772141 93772141 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 12 93772141 93772141 G C SNP NUDT4 ENST00000337179 human ensembl 74_37 +1 known missense c.43 p.E15Q 1.000 superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT4 HGNC ENSG00000173598 89 0 0.00 110 7 5.98 NUTM2B 0 genome.wustl.edu 37 10 81466039 81466039 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 10 81466039 81466039 G A SNP NUTM2B ENST00000429828 human ensembl 74_37 +1 known silent c.624 p.R208 0.001 NULL NULL - no_errors NUTM2B HGNC ENSG00000188199 tier1 - - 61 0 0.00 47 12 20.34 NUTM2F 0 genome.wustl.edu 37 9 97081163 97081163 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 9 97081163 97081163 G C SNP NUTM2F ENST00000253262 human ensembl 74_37 -1 known missense c.1855 p.P619A 0.010 NULL NULL - no_errors NUTM2F HGNC ENSG00000130950 tier1 - - 33 0 0.00 21 7 25.00 OOEP 0 genome.wustl.edu 37 6 74079456 74079456 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 6 74079456 74079456 G A SNP OOEP ENST00000370359 human ensembl 74_37 -1 known silent c.60 p.S20 0.001 NULL NULL - no_errors OOEP HGNC ENSG00000203907 tier1 - - 38 0 0.00 36 4 10.00 OR2G2 0 genome.wustl.edu 37 1 247752347 247752347 + Nonsense_Mutation SNP T T A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 247752347 247752347 T A SNP OR2G2 ENST00000320065 human ensembl 74_37 +1 known nonsense c.686 p.L229* 0.035 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G2 HGNC ENSG00000177489 tier1 - - 67 0 0.00 68 4 5.56 OR2L13 0 genome.wustl.edu 37 1 248262873 248262873 + Missense_Mutation SNP T T C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 248262873 248262873 T C SNP OR2L13 ENST00000358120 human ensembl 74_37 +1 known missense c.196 p.S66P 0.775 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L13 HGNC ENSG00000196071 tier1 - - 55 0 0.00 45 20 30.77 OR4A15 0 genome.wustl.edu 37 11 55135647 55135647 + Silent SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 11 55135647 55135647 C T SNP OR4A15 ENST00000314706 human ensembl 74_37 +1 known silent c.288 p.F96 0.000 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 OR4A15 HGNC ENSG00000181958 tier1 - - 79 0 0.00 49 16 24.62 OR4D6 0 genome.wustl.edu 37 11 59224784 59224784 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 11 59224784 59224784 G A SNP OR4D6 ENST00000300127 human ensembl 74_37 +1 known silent c.351 p.V117 0.967 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 OR4D6 HGNC ENSG00000166884 tier1 - - 20 0 0.00 33 6 15.38 OR51Q1 0 genome.wustl.edu 37 11 5443799 5443799 + Missense_Mutation SNP C C A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 11 5443799 5443799 C A SNP OR51Q1 ENST00000300778 human ensembl 74_37 +1 known missense c.369 p.D123E 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51Q1 HGNC ENSG00000167360 tier1 - - 32 0 0.00 16 4 20.00 OR5B2 0 genome.wustl.edu 37 11 58190052 58190052 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 11 58190052 58190052 G A SNP OR5B2 ENST00000302581 human ensembl 74_37 -1 known missense c.683 p.S228L 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B2 HGNC ENSG00000172365 tier1 - - 50 0 0.00 36 23 38.33 OR5V1 0 genome.wustl.edu 37 6 29323469 29323469 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 6 29323469 29323469 G A SNP OR5V1 ENST00000377154 human ensembl 74_37 -1 known silent c.504 p.F168 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5V1 HGNC ENSG00000243729 tier1 - - 15 0 0.00 8 28 77.78 OSBP2 0 genome.wustl.edu 37 22 31218649 31218649 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 22 31218649 31218649 C T SNP OSBP2 ENST00000437268 human ensembl 74_37 +1 known missense c.32 p.S11F 1.000 NULL pfam_Oxysterol-bd,superfamily_DNA-bd_dom_put - no_errors OSBP2 HGNC ENSG00000184792 tier1 - - 55 0 0.00 20 27 57.45 OTUD6B 0 genome.wustl.edu 37 8 92086058 92086058 + Splice_Site SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 8 92086058 92086058 G C SNP OTUD6B ENST00000285420 human ensembl 74_37 +1 known splice_site c.325-1 e3-1 1.000 - - - no_errors OTUD6B HGNC ENSG00000155100 tier1 - - 32 0 0.00 18 13 41.94 P2RY12 0 genome.wustl.edu 37 3 151056001 151056001 + Silent SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 3 151056001 151056001 G C SNP P2RY12 ENST00000302632 human ensembl 74_37 -1 known silent c.633 p.L211 0.932 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y12_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors P2RY12 HGNC ENSG00000169313 tier1 - - 74 0 0.00 62 55 47.01 PACS2 0 genome.wustl.edu 37 14 105849685 105849685 + Silent SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 14 105849685 105849685 C T SNP PACS2 ENST00000551743 human ensembl 74_37 +1 putative silent c.145 p.L49 0.000 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 tier1 - - 32 0 0.00 22 5 18.52 PCDHA3 0 genome.wustl.edu 37 5 140181759 140181759 + Missense_Mutation SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 5 140181759 140181759 G T SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.977 p.G326V 0.995 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 37 0 0.00 21 2 8.70 PCDHA7 0 genome.wustl.edu 37 5 140215524 140215524 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 5 140215524 140215524 C T SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.1556 p.A519V 0.683 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 tier1 - - 139 0 0.00 41 50 54.95 PCDHGC3 0 genome.wustl.edu 37 5 140857757 140857757 + Frame_Shift_Del DEL T T - TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 5 140857757 140857757 T - DEL PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known frame_shift_del c.2074 p.Y693fs 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC3 HGNC ENSG00000240184 tier1 30 0 0.00 21 2 8.70 PCNXL4 0 genome.wustl.edu 37 14 60635504 60635504 + RNA SNP C C A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 14 60635504 60635504 C A SNP PCNXL4 ENST00000553898 human ensembl 74_37 +1 putative rna NULL NULL 0.147 - - - no_errors PCNXL4 HGNC ENSG00000126773 tier1 - - 45 0 0.00 55 4 6.78 PDE4C 0 genome.wustl.edu 37 19 18322726 18322726 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 19 18322726 18322726 G A SNP PDE4C ENST00000355502 human ensembl 74_37 -1 known missense c.1634 p.A545V 0.995 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4C HGNC ENSG00000105650 18 0 0.00 32 2 5.88 PDE6A 0 genome.wustl.edu 37 5 149245776 149245776 + Missense_Mutation SNP A A G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 5 149245776 149245776 A G SNP PDE6A ENST00000255266 human ensembl 74_37 -1 known missense c.2315 p.L772P 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 65 0 0.00 28 2 6.67 PDS5A 0 genome.wustl.edu 37 4 39911951 39911951 + Missense_Mutation SNP C C A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 4 39911951 39911951 C A SNP PDS5A ENST00000303538 human ensembl 74_37 -1 known missense c.1000 p.D334Y 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 25 0 0.00 22 2 8.33 PEX2 0 genome.wustl.edu 37 8 77895531 77895531 + Nonsense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 8 77895531 77895531 G C SNP PEX2 ENST00000357039 human ensembl 74_37 -1 known nonsense c.884 p.S295* 0.989 NULL pfam_Pex_N,smart_Znf_RING,pfscan_Znf_RING - no_errors PEX2 HGNC ENSG00000164751 tier1 - - 53 0 0.00 30 10 25.00 PF4V1 0 genome.wustl.edu 37 4 74719096 74719096 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 4 74719096 74719096 G C SNP PF4V1 ENST00000226524 human ensembl 74_37 +1 known missense c.17 p.R6T 0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors PF4V1 HGNC ENSG00000109272 tier1 - - 39 0 0.00 43 5 10.42 PFKFB2 0 genome.wustl.edu 37 1 207243747 207243747 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 207243747 207243747 G A SNP PFKFB2 ENST00000367080 human ensembl 74_37 +1 known silent c.1215 p.K405 0.999 pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB2 HGNC ENSG00000123836 tier1 - - 58 0 0.00 36 7 16.28 PGRMC2 0 genome.wustl.edu 37 4 129193573 129193573 + Nonsense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 4 129193573 129193573 G C SNP PGRMC2 ENST00000520121 human ensembl 74_37 -1 known nonsense c.590 p.S197* 1.000 pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd - no_errors PGRMC2 HGNC ENSG00000164040 tier1 - - 24 0 0.00 13 5 27.78 PHC2 0 genome.wustl.edu 37 1 33838009 33838009 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 33838009 33838009 C T SNP PHC2 ENST00000419414 human ensembl 74_37 -1 known missense c.214 p.A72T 0.996 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC ENSG00000134686 62 0 0.00 75 4 5.06 PHIP 0 genome.wustl.edu 37 6 79668285 79668285 + Missense_Mutation SNP T T C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 6 79668285 79668285 T C SNP PHIP ENST00000275034 human ensembl 74_37 -1 known missense c.3689 p.Y1230C 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 tier1 - - 70 0 0.00 53 21 28.38 PIGG 0 genome.wustl.edu 37 4 517563 517563 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 4 517563 517563 G C SNP PIGG ENST00000453061 human ensembl 74_37 +1 known missense c.1930 p.E644Q 0.000 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 tier1 - - 22 0 0.00 18 12 40.00 PKD1L1 0 genome.wustl.edu 37 7 47933653 47933653 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 7 47933653 47933653 G C SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.2275 p.Q759E 0.998 pfam_PKD/REJ-like,pfscan_REJ-like pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 tier1 - - 16 0 0.00 6 5 45.45 PKHD1 0 genome.wustl.edu 37 6 51483924 51483924 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 6 51483924 51483924 G A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.12180 p.F4060 0.000 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 tier1 - - 33 0 0.00 28 10 26.32 PKHD1L1 0 genome.wustl.edu 37 8 110410724 110410724 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 8 110410724 110410724 G C SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.959 p.S320T 0.001 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 53 0 0.00 48 17 26.15 PLCXD3 0 genome.wustl.edu 37 5 41510617 41510617 + Silent SNP A A T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 5 41510617 41510617 A T SNP PLCXD3 ENST00000328457 human ensembl 74_37 -1 known silent c.12 p.S4 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD3 HGNC ENSG00000182836 tier1 - - 15 0 0.00 32 12 27.27 PLD2 0 genome.wustl.edu 37 17 4721813 4721813 + Silent SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 17 4721813 4721813 C T SNP PLD2 ENST00000263088 human ensembl 74_37 +1 known silent c.2034 p.Y678 0.995 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 24 0 0.00 14 3 17.65 PLEKHH2 0 genome.wustl.edu 37 2 43927283 43927283 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 2 43927283 43927283 G A SNP PLEKHH2 ENST00000282406 human ensembl 74_37 +1 known missense c.1186 p.D396N 1.000 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 24 0 0.00 18 2 10.00 PLK1S1 0 genome.wustl.edu 37 20 21106771 21106771 + RNA SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 20 21106771 21106771 C T SNP PLK1S1 ENST00000246027 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PLK1S1 HGNC ENSG00000088970 tier1 - - 18 0 0.00 16 6 27.27 PLS1 0 genome.wustl.edu 37 3 142383112 142383112 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 3 142383112 142383112 G A SNP PLS1 ENST00000337777 human ensembl 74_37 +1 known silent c.33 p.E11 1.000 pfscan_EF_hand_dom pfam_CH-domain,pfam_EF_hand_dom,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors PLS1 HGNC ENSG00000120756 tier1 - - 50 0 0.00 82 13 13.54 PLXNA3 0 genome.wustl.edu 37 X 153695951 153695951 + Missense_Mutation SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca X 153695951 153695951 G T SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known missense c.3505 p.G1169C 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 tier1 - - 35 0 0.00 45 4 8.16 PLXNA3 0 genome.wustl.edu 37 X 153698330 153698330 + Silent SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca X 153698330 153698330 C T SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known silent c.4806 p.L1602 0.944 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 tier1 - - 19 0 0.00 10 9 47.37 POTEB2 0 genome.wustl.edu 37 15 21063520 21063520 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 15 21063520 21063520 G A SNP POTEB2 ENST00000454856 human ensembl 74_37 -1 known silent c.726 p.G242 0.066 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,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEB2 HGNC ENSG00000230031 tier1 - - 8 0 0.00 3 3 50.00 PPM1B 0 genome.wustl.edu 37 2 44396133 44396133 + RNA SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 2 44396133 44396133 C T SNP PPM1B ENST00000378540 human ensembl 74_37 +1 known rna NULL NULL 0.901 - - - no_errors PPM1B HGNC ENSG00000138032 tier1 - - 121 0 0.00 106 43 28.86 PRIM1 0 genome.wustl.edu 37 12 57139922 57139922 + Missense_Mutation SNP C C A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 12 57139922 57139922 C A SNP PRIM1 ENST00000338193 human ensembl 74_37 -1 known missense c.486 p.R162S 1.000 pfam_DNA_primase_S,tigrfam_DNA_primase_ssu_euk/arc pfam_DNA_primase_S,tigrfam_DNA_primase_ssu_euk/arc - no_errors PRIM1 HGNC ENSG00000198056 tier1 - - 32 0 0.00 29 4 12.12 PRPF6 0 genome.wustl.edu 37 20 62654208 62654208 + Silent SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 20 62654208 62654208 C T SNP PRPF6 ENST00000266079 human ensembl 74_37 +1 known silent c.1746 p.Y582 1.000 smart_HAT pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 tier1 - - 73 0 0.00 60 4 6.25 PTAR1 0 genome.wustl.edu 37 9 72374807 72374807 + Silent SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 9 72374807 72374807 C G SNP PTAR1 ENST00000340434 human ensembl 74_37 -1 known silent c.48 p.V16 1.000 NULL pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a - no_errors PTAR1 HGNC ENSG00000188647 tier1 - - 85 0 0.00 66 26 28.26 PXMP2 0 genome.wustl.edu 37 12 133272599 133272599 + Silent SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 12 133272599 133272599 C T SNP PXMP2 ENST00000317479 human ensembl 74_37 +1 known silent c.366 p.L122 0.901 NULL pfam_Mpv17_PMP22 - no_errors PXMP2 HGNC ENSG00000176894 tier1 - - 55 0 0.00 40 12 23.08 RBMXL2 0 genome.wustl.edu 37 11 7111257 7111257 + Silent SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 11 7111257 7111257 C T SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known silent c.906 p.Y302 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 tier1 - - 23 0 0.00 29 6 17.14 RCL1 0 genome.wustl.edu 37 9 4793197 4793197 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 9 4793197 4793197 C T SNP RCL1 ENST00000381750 human ensembl 74_37 +1 known missense c.106 p.R36W 1.000 pfam_RNA3'_phos_cyclase_dom,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,pirsf_RNA3'_term_phos_cyc,tigrfam_RNA3'_term_phos_cyc_type_2 pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'-term_phos_cycl_insert,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,pirsf_RNA3'_term_phos_cyc,tigrfam_RNA3'_term_phos_cyc_type_2 - no_errors RCL1 HGNC ENSG00000120158 tier1 - - 72 0 0.00 26 17 39.53 RCN1 0 genome.wustl.edu 37 11 32120056 32120056 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 11 32120056 32120056 G A SNP RCN1 ENST00000054950 human ensembl 74_37 +1 known missense c.609 p.M203I 1.000 pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors RCN1 HGNC ENSG00000049449 24 0 0.00 34 4 10.53 RET 0 genome.wustl.edu 37 10 43600603 43600603 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 10 43600603 43600603 G C SNP RET ENST00000355710 human ensembl 74_37 +1 known missense c.829 p.D277H 0.982 pirsf_Tyr_kinase_Ret_rcpt,superfamily_Cadherin-like pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 tier1 - - 47 0 0.00 44 35 43.75 RFWD3 0 genome.wustl.edu 37 16 74662409 74662409 + Frame_Shift_Del DEL C C - TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 16 74662409 74662409 C - DEL RFWD3 ENST00000361070 human ensembl 74_37 -1 known frame_shift_del c.1910 p.G637fs 1.000 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING - no_errors RFWD3 HGNC ENSG00000168411 tier1 29 0 0.00 25 2 7.41 RFX7 0 genome.wustl.edu 37 15 56390515 56390515 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 15 56390515 56390515 G C SNP RFX7 ENST00000423270 human ensembl 74_37 -1 known missense c.871 p.Q291E 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 tier1 - - 49 0 0.00 29 11 27.50 RFX7 0 genome.wustl.edu 37 15 56436654 56436654 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 15 56436654 56436654 C G SNP RFX7 ENST00000423270 human ensembl 74_37 -1 known missense c.223 p.E75Q 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 tier1 - - 27 0 0.00 34 7 17.07 RIF1 0 genome.wustl.edu 37 2 152320541 152320541 + Frame_Shift_Del DEL A A - TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 2 152320541 152320541 A - DEL RIF1 ENST00000243326 human ensembl 74_37 +1 known frame_shift_del c.4507 p.K1505fs 0.001 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 tier1 15 0 0.00 17 2 10.53 RIMS2 0 genome.wustl.edu 37 8 104898029 104898029 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 8 104898029 104898029 G C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.1202 p.R401T 1.000 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 tier1 - - 43 0 0.00 18 8 30.77 RIPK4 0 genome.wustl.edu 37 21 43165934 43165935 + Frame_Shift_Ins INS - - G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 21 43165934 43165935 - G INS RIPK4 ENST00000352483 human ensembl 74_37 -1 known frame_shift_ins c.1065_1064 p.E356fs 0.000:0.000 NULL pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 tier1 60 0 0.00 27 10 27.03 RNF115 0 genome.wustl.edu 37 1 145682022 145682022 + Splice_Site SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 145682022 145682022 G A SNP RNF115 ENST00000369291 human ensembl 74_37 +1 known splice_site c.429-1 e5-1 1.000 - - - no_errors RNF115 HGNC ENSG00000121848 tier1 - - 64 0 0.00 44 16 26.23 RNF144A 0 genome.wustl.edu 37 2 7160801 7160801 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 2 7160801 7160801 G C SNP RNF144A ENST00000320892 human ensembl 74_37 +1 known missense c.499 p.G167R 1.000 NULL pfam_Znf_C6HC,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF144A HGNC ENSG00000151692 29 0 0.00 30 3 9.09 RPE65 0 genome.wustl.edu 37 1 68914383 68914383 + Silent SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 68914383 68914383 C T SNP RPE65 ENST00000262340 human ensembl 74_37 -1 known silent c.18 p.E6 0.999 NULL pfam_Carotenoid_Oase - no_errors RPE65 HGNC ENSG00000116745 28 0 0.00 45 3 6.25 RTCB 0 genome.wustl.edu 37 22 32802744 32802744 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 22 32802744 32802744 G C SNP RTCB ENST00000216038 human ensembl 74_37 -1 known missense c.245 p.S82C 1.000 pfam_RtcB,superfamily_RtcB pfam_RtcB,superfamily_RtcB - no_errors RTCB HGNC ENSG00000100220 tier1 - - 21 0 0.00 16 7 30.43 RUNDC3A 0 genome.wustl.edu 37 17 42392345 42392345 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 17 42392345 42392345 C G SNP RUNDC3A ENST00000426726 human ensembl 74_37 +1 known missense c.597 p.I199M 0.998 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3A HGNC ENSG00000108309 tier1 - - 42 0 0.00 49 18 26.47 SCAF1 0 genome.wustl.edu 37 19 50157957 50157957 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 19 50157957 50157957 C G SNP SCAF1 ENST00000360565 human ensembl 74_37 +1 known missense c.3448 p.P1150A 0.998 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 41 0 0.00 24 3 11.11 SCUBE1 0 genome.wustl.edu 37 22 43616536 43616536 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 22 43616536 43616536 C T SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known missense c.1607 p.R536H 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 tier1 - - 68 0 0.00 67 28 29.47 SEMA6D 0 genome.wustl.edu 37 15 48053870 48053870 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 15 48053870 48053870 G A SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.460 p.E154K 1.000 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 SEMA6D HGNC ENSG00000137872 tier1 - - 43 0 0.00 34 14 29.17 SEPT9 0 genome.wustl.edu 37 17 75471827 75471827 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 17 75471827 75471827 G A SNP SEPT9 ENST00000427180 human ensembl 74_37 +1 known missense c.227 p.R76Q 0.000 NULL pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase - no_errors SEPT9 HGNC ENSG00000184640 tier1 - - 27 0 0.00 7 11 61.11 SFMBT2 0 genome.wustl.edu 37 10 7326113 7326113 + Splice_Site SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 10 7326113 7326113 C T SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known splice_site c.526-1 e5-1 1.000 - - - no_errors SFMBT2 HGNC ENSG00000198879 41 0 0.00 29 3 9.38 SGTB 0 genome.wustl.edu 37 5 65004336 65004336 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 5 65004336 65004336 G A SNP SGTB ENST00000381007 human ensembl 74_37 -1 known missense c.254 p.A85V 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SGTB HGNC ENSG00000197860 tier1 - - 72 0 0.00 33 4 10.81 SH2D5 0 genome.wustl.edu 37 1 21050598 21050598 + Silent SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 21050598 21050598 C T SNP SH2D5 ENST00000444387 human ensembl 74_37 -1 known silent c.777 p.L259 1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH2 - no_errors SH2D5 HGNC ENSG00000189410 tier1 - - 16 0 0.00 20 7 25.93 SLC16A1 0 genome.wustl.edu 37 1 113460327 113460327 + Missense_Mutation SNP A A G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 113460327 113460327 A G SNP SLC16A1 ENST00000369626 human ensembl 74_37 -1 known missense c.701 p.I234T 0.998 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 SLC16A1 HGNC ENSG00000155380 tier1 - - 62 0 0.00 39 19 32.76 SLC1A5 0 genome.wustl.edu 37 19 47278877 47278877 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 19 47278877 47278877 G A SNP SLC1A5 ENST00000542575 human ensembl 74_37 -1 known missense c.1516 p.P506S 0.010 NULL pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A5 HGNC ENSG00000105281 tier1 - - 32 0 0.00 29 16 35.56 SLC38A3 0 genome.wustl.edu 37 3 50255369 50255369 + RNA SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 3 50255369 50255369 C G SNP SLC38A3 ENST00000414604 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SLC38A3 HGNC ENSG00000188338 tier1 - - 33 0 0.00 7 9 56.25 SLC45A1 0 genome.wustl.edu 37 1 8395601 8395601 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 8395601 8395601 C G SNP SLC45A1 ENST00000377479 human ensembl 74_37 +1 known missense c.1650 p.I550M 1.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 tier1 - - 31 0 0.00 41 14 25.45 SMAD4 0 genome.wustl.edu 37 18 48604764 48604764 + Nonsense_Mutation SNP T T G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 18 48604764 48604764 T G SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known nonsense c.1586 p.L529* 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 tier1 - - 53 0 0.00 24 15 38.46 SMYD2 0 genome.wustl.edu 37 1 214504371 214504371 + Missense_Mutation SNP C C A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 214504371 214504371 C A SNP SMYD2 ENST00000366957 human ensembl 74_37 +1 known missense c.895 p.R299S 1.000 NULL pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD2 HGNC ENSG00000143499 29 0 0.00 35 2 5.41 SNTB1 0 genome.wustl.edu 37 8 121706059 121706059 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 8 121706059 121706059 G C SNP SNTB1 ENST00000395601 human ensembl 74_37 -1 known missense c.661 p.R221G 0.771 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB1 HGNC ENSG00000172164 61 0 0.00 71 4 5.33 SOS1 0 genome.wustl.edu 37 2 39237798 39237798 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 2 39237798 39237798 C G SNP SOS1 ENST00000402219 human ensembl 74_37 -1 known missense c.2437 p.D813H 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 tier1 - - 116 0 0.00 94 19 16.81 SOX13 0 genome.wustl.edu 37 1 204091377 204091377 + Frame_Shift_Del DEL C C - TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 204091377 204091377 C - DEL SOX13 ENST00000367204 human ensembl 74_37 +1 known frame_shift_del c.874 p.L293fs 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX13 HGNC ENSG00000143842 tier1 37 0 0.00 33 2 5.71 SPAG17 0 genome.wustl.edu 37 1 118596717 118596717 + Splice_Site SNP C C A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 118596717 118596717 C A SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known splice_site c.2723-1 e20-1 0.527 - - - no_errors SPAG17 HGNC ENSG00000155761 tier1 - - 56 0 0.00 47 4 7.84 SPEF1 0 genome.wustl.edu 37 20 3758928 3758928 + Silent SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 20 3758928 3758928 G C SNP SPEF1 ENST00000379756 human ensembl 74_37 -1 known silent c.642 p.L214 0.982 NULL pfam_DUF1042,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain - no_errors SPEF1 HGNC ENSG00000101222 tier1 - - 48 0 0.00 16 10 38.46 SPEN 0 genome.wustl.edu 37 1 16263967 16263967 + Missense_Mutation SNP T T C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 16263967 16263967 T C SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.10336 p.S3446P 0.992 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 33 0 0.00 43 3 6.52 SPRTN 0 genome.wustl.edu 37 1 231489015 231489015 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 231489015 231489015 C G SNP SPRTN ENST00000295050 human ensembl 74_37 +1 known missense c.1378 p.Q460E 0.940 smart_Znf_Rad18_put pfam_SprT-like_domain,smart_SprT-like_domain,smart_Znf_Rad18_put - no_errors SPRTN HGNC ENSG00000010072 tier1 - - 32 0 0.00 23 16 41.03 SRRM2 0 genome.wustl.edu 37 16 2814594 2814594 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 16 2814594 2814594 G C SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.4065 p.L1355F 0.990 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 - - 45 0 0.00 22 20 47.62 STK35 0 genome.wustl.edu 37 20 2097509 2097509 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 20 2097509 2097509 G C SNP STK35 ENST00000381482 human ensembl 74_37 +1 known missense c.1090 p.D364H 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 STK35 HGNC ENSG00000125834 18 0 0.00 11 3 21.43 STT3B 0 genome.wustl.edu 37 3 31677544 31677544 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 3 31677544 31677544 G C SNP STT3B ENST00000295770 human ensembl 74_37 +1 known missense c.2469 p.K823N 1.000 NULL pfam_Oligo_trans_STT3 - no_errors STT3B HGNC ENSG00000163527 tier1 - - 65 0 0.00 55 6 9.52 SUCNR1 0 genome.wustl.edu 37 3 151598485 151598485 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 3 151598485 151598485 C G SNP SUCNR1 ENST00000362032 human ensembl 74_37 +1 known missense c.154 p.L52V 0.987 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors SUCNR1 HGNC ENSG00000198829 tier1 - - 56 0 0.00 90 19 17.43 SYNE2 0 genome.wustl.edu 37 14 64518452 64518452 + Missense_Mutation SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 14 64518452 64518452 G T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.7821 p.W2607C 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 35 0 0.00 30 10 25.00 SYNJ2 0 genome.wustl.edu 37 6 158492679 158492679 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 6 158492679 158492679 G A SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known silent c.1986 p.A662 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 tier1 - - 8 0 0.00 10 10 50.00 TACO1 0 genome.wustl.edu 37 17 61681893 61681893 + Splice_Site SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 17 61681893 61681893 G A SNP TACO1 ENST00000258975 human ensembl 74_37 +1 known splice_site c.281-1 e2-1 1.000 - - - no_errors TACO1 HGNC ENSG00000136463 tier1 - - 22 0 0.00 17 11 39.29 TACO1 0 genome.wustl.edu 37 17 61683700 61683700 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 17 61683700 61683700 G A SNP TACO1 ENST00000258975 human ensembl 74_37 +1 known missense c.415 p.E139K 1.000 pfam_Transcrip_reg_TACO1-like pfam_Transcrip_reg_TACO1-like - no_errors TACO1 HGNC ENSG00000136463 tier1 - - 69 0 0.00 37 25 40.32 TANGO6 0 genome.wustl.edu 37 16 68893888 68893888 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 16 68893888 68893888 C G SNP TANGO6 ENST00000261778 human ensembl 74_37 +1 known missense c.196 p.Q66E 0.940 NULL pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold - no_errors TANGO6 HGNC ENSG00000103047 tier1 - - 55 0 0.00 39 15 27.78 TAS2R10 0 genome.wustl.edu 37 12 10978643 10978644 + Frame_Shift_Ins INS - - AT TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 12 10978643 10978644 - AT INS TAS2R10 ENST00000240619 human ensembl 74_37 -1 known frame_shift_ins c.226_225 p.A75fs 0.000:0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R10 HGNC ENSG00000121318 tier1 17 0 0.00 23 4 14.81 TENM4 0 genome.wustl.edu 37 11 78565338 78565338 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 11 78565338 78565338 C G SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.1492 p.D498H 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 15 0 0.00 13 4 23.53 TFAP2B 0 genome.wustl.edu 37 6 50803869 50803869 + Missense_Mutation SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 6 50803869 50803869 G T SNP TFAP2B ENST00000263046 human ensembl 74_37 +1 known missense c.724 p.V242F 0.997 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC ENSG00000008196 45 0 0.00 36 2 5.26 TMBIM4 0 genome.wustl.edu 37 12 66546114 66546114 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 12 66546114 66546114 C G SNP TMBIM4 ENST00000358230 human ensembl 74_37 -1 known missense c.249 p.L83F 0.102 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 tier1 - - 24 0 0.00 13 6 31.58 TMEM11 0 genome.wustl.edu 37 17 21102020 21102020 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 17 21102020 21102020 G C SNP TMEM11 ENST00000317635 human ensembl 74_37 -1 known missense c.196 p.R66G 1.000 NULL NULL - no_errors TMEM11 HGNC ENSG00000178307 tier1 - - 53 0 0.00 23 19 45.24 TMEM175 0 genome.wustl.edu 37 4 941566 941566 + Silent SNP A A G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 4 941566 941566 A G SNP TMEM175 ENST00000264771 human ensembl 74_37 +1 known silent c.39 p.T13 0.000 NULL pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC ENSG00000127419 tier1 rs144663311 - 61 0 0.00 38 17 30.91 TMEM255B 0 genome.wustl.edu 37 13 114498174 114498174 + Silent SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 13 114498174 114498174 C T SNP TMEM255B ENST00000375353 human ensembl 74_37 +1 known silent c.306 p.C102 0.999 NULL NULL - no_errors TMEM255B HGNC ENSG00000184497 28 0 0.00 70 4 5.41 TNFRSF19 0 genome.wustl.edu 37 13 24200845 24200845 + Splice_Site SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 13 24200845 24200845 G C SNP TNFRSF19 ENST00000382258 human ensembl 74_37 +1 known splice_site c.360-1 e4-1 1.000 - - - no_errors TNFRSF19 HGNC ENSG00000127863 tier1 - - 25 0 0.00 8 3 27.27 TP53 0 genome.wustl.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 17 7577121 7577121 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.817 p.R273C 0.830 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 rs121913343 - 34 0 0.00 1 7 87.50 TRAF3IP2 0 genome.wustl.edu 37 6 111901440 111901440 + Missense_Mutation SNP C C A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 6 111901440 111901440 C A SNP TRAF3IP2 ENST00000340026 human ensembl 74_37 -1 known missense c.1009 p.A337S 0.000 NULL pfam_SEFIR - no_errors TRAF3IP2 HGNC ENSG00000056972 18 0 0.00 16 2 11.11 TRIM36 0 genome.wustl.edu 37 5 114499263 114499263 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 5 114499263 114499263 G A SNP TRIM36 ENST00000282369 human ensembl 74_37 -1 known missense c.250 p.R84W 0.992 smart_Znf_RING,pfscan_Znf_RING pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM36 HGNC ENSG00000152503 45 0 0.00 33 2 5.71 TRIM52 0 genome.wustl.edu 37 5 180687602 180687602 + Silent SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 5 180687602 180687602 C T SNP TRIM52 ENST00000327767 human ensembl 74_37 -1 known silent c.213 p.A71 0.002 smart_Znf_RING pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM52 HGNC ENSG00000183718 tier1 - - 23 0 0.00 9 9 50.00 TRIM6-TRIM34 0 genome.wustl.edu 37 11 5655908 5655908 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 11 5655908 5655908 G A SNP TRIM6-TRIM34 ENST00000354852 human ensembl 74_37 +1 known silent c.1629 p.Q543 0.003 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC ENSG00000258588 tier1 - - 20 0 0.00 12 7 36.84 TRPV6 0 genome.wustl.edu 37 7 142574200 142574200 + Silent SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 7 142574200 142574200 G A SNP TRPV6 ENST00000359396 human ensembl 74_37 -1 known silent c.723 p.L241 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC ENSG00000165125 tier1 - - 98 0 0.00 78 29 26.61 TTC40 0 genome.wustl.edu 37 10 134672745 134672745 + Silent SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 10 134672745 134672745 C G SNP TTC40 ENST00000368586 human ensembl 74_37 -1 putative silent c.5205 p.L1735 0.066 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 tier1 - - 24 0 0.00 6 6 50.00 TTN 0 genome.wustl.edu 37 2 179397665 179397665 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 2 179397665 179397665 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.95973 p.I31991M 0.851 superfamily_Calpain_domain_III,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 - - 37 0 0.00 22 9 29.03 TTN 0 genome.wustl.edu 37 2 179441051 179441051 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 2 179441051 179441051 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.62104 p.L20702F 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 11 0 0.00 7 3 30.00 TUBBP5 0 genome.wustl.edu 37 9 141070915 141070915 + RNA SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 9 141070915 141070915 C T SNP TUBBP5 ENST00000290377 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors TUBBP5 HGNC ENSG00000159247 75 0 0.00 22 2 8.33 UBA1 0 genome.wustl.edu 37 X 47074032 47074032 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca X 47074032 47074032 C G SNP UBA1 ENST00000335972 human ensembl 74_37 +1 known missense c.3037 p.Q1013E 1.000 pfam_Ub-activating_enz_e1_C,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA1 HGNC ENSG00000130985 tier1 - - 29 0 0.00 30 12 28.57 ULK4P3 0 genome.wustl.edu 37 15 30395997 30395997 + RNA SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 15 30395997 30395997 G C SNP ULK4P3 ENST00000565158 human ensembl 74_37 +1 putative rna NULL NULL 0.008 - - - no_errors ULK4P3 HGNC ENSG00000178081 134 0 0.00 82 8 8.89 UROD 0 genome.wustl.edu 37 1 45479618 45479618 + Nonsense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 45479618 45479618 C G SNP UROD ENST00000246337 human ensembl 74_37 +1 known nonsense c.512 p.S171* 1.000 pfam_Uroporphyrinogen_deCOase,tigrfam_Uroporphyrinogen_deCO2ase_HemE pfam_Uroporphyrinogen_deCOase,tigrfam_Uroporphyrinogen_deCO2ase_HemE - no_errors UROD HGNC ENSG00000126088 tier1 - - 25 0 0.00 18 7 28.00 USP32P2 0 genome.wustl.edu 37 17 18415379 18415382 + RNA DEL TATT TATT - TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 TATT TATT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 17 18415379 18415382 TATT - DEL USP32P2 ENST00000412260 human ensembl 74_37 -1 known rna NULL NULL 0.702:0.636:0.550:0.518 - - - no_errors USP32P2 HGNC ENSG00000233327 tier1 44 0 0.00 28 4 12.50 USP32P2 0 genome.wustl.edu 37 17 18415388 18415388 + RNA SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 17 18415388 18415388 G A SNP USP32P2 ENST00000412260 human ensembl 74_37 -1 known rna NULL NULL 0.462 - - - no_errors USP32P2 HGNC ENSG00000233327 tier1 - - 42 0 0.00 26 4 13.33 VANGL1 0 genome.wustl.edu 37 1 116206829 116206829 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 116206829 116206829 C T SNP VANGL1 ENST00000310260 human ensembl 74_37 +1 known missense c.752 p.T251M 1.000 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL1 HGNC ENSG00000173218 37 0 0.00 31 2 6.06 VMP1 0 genome.wustl.edu 37 17 57915485 57915485 + RNA DEL C C - TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 17 57915485 57915485 C - DEL VMP1 ENST00000588617 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors VMP1 HGNC ENSG00000062716 tier1 26 0 0.00 18 3 14.29 VNN3 0 genome.wustl.edu 37 6 133045810 133045810 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 6 133045810 133045810 C T SNP VNN3 ENST00000207771 human ensembl 74_37 -1 known missense c.1135 p.D379N 0.969 pirsf_Biotinidase_euk pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN3 HGNC ENSG00000093134 tier1 - - 68 0 0.00 34 16 32.00 VWA8 0 genome.wustl.edu 37 13 42439942 42439942 + Missense_Mutation SNP C C A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 13 42439942 42439942 C A SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known missense c.1355 p.G452V 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 tier1 - - 82 0 0.00 24 13 35.14 VWA8 0 genome.wustl.edu 37 13 42277462 42277462 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 13 42277462 42277462 C G SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known missense c.3202 p.E1068Q 1.000 NULL pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 47 0 0.00 30 2 6.25 WDR27 0 genome.wustl.edu 37 6 169857518 169857518 + RNA SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 6 169857518 169857518 G A SNP WDR27 ENST00000479310 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors WDR27 HGNC ENSG00000184465 tier1 - - 9 0 0.00 6 5 45.45 WNK2 0 genome.wustl.edu 37 9 95997225 95997225 + Missense_Mutation SNP A A G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 9 95997225 95997225 A G SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.1211 p.Q404R 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_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 tier1 - - 54 0 0.00 37 4 9.76 XPC 0 genome.wustl.edu 37 3 14219966 14219968 + In_Frame_Del DEL CCT CCT - TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 3 14219966 14219968 CCT - DEL XPC ENST00000285021 human ensembl 74_37 -1 known in_frame_del c.103_101 p.E34in_frame_del 0.927:0.902:0.864 NULL pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr - no_errors XPC HGNC ENSG00000154767 tier1 14 0 0.00 17 4 19.05 XPO4 0 genome.wustl.edu 37 13 21417979 21417979 + Nonsense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 13 21417979 21417979 G C SNP XPO4 ENST00000255305 human ensembl 74_37 -1 known nonsense c.503 p.S168* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 tier1 - - 32 0 0.00 15 4 21.05 XXYLT1 0 genome.wustl.edu 37 3 194842910 194842910 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 3 194842910 194842910 C T SNP XXYLT1 ENST00000356740 human ensembl 74_37 -1 known missense c.12 p.M4I 0.000 NULL pfam_Glyco_trans_8 - no_errors XXYLT1 HGNC ENSG00000173950 tier1 - - 34 0 0.00 40 13 24.53 XYLT1 0 genome.wustl.edu 37 16 17353166 17353166 + Missense_Mutation SNP C C G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 16 17353166 17353166 C G SNP XYLT1 ENST00000261381 human ensembl 74_37 -1 known missense c.592 p.E198Q 0.997 NULL pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 22 0 0.00 19 5 20.83 YWHAB 0 genome.wustl.edu 37 20 43535146 43535146 + RNA SNP A A G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 20 43535146 43535146 A G SNP YWHAB ENST00000479421 human ensembl 74_37 +1 known rna NULL NULL 0.952 - - - no_errors YWHAB HGNC ENSG00000166913 tier1 - - 50 0 0.00 47 11 18.97 ZBTB39 0 genome.wustl.edu 37 12 57398627 57398627 + Silent SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 12 57398627 57398627 G C SNP ZBTB39 ENST00000300101 human ensembl 74_37 -1 known silent c.75 p.L25 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB39 HGNC ENSG00000166860 tier1 - - 71 0 0.00 72 21 22.58 ZC3H10 0 genome.wustl.edu 37 12 56514530 56514530 + Missense_Mutation SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 12 56514530 56514530 G T SNP ZC3H10 ENST00000257940 human ensembl 74_37 +1 known missense c.184 p.D62Y 1.000 smart_Znf_CCCH pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H10 HGNC ENSG00000135482 tier1 - - 39 0 0.00 47 4 7.84 ZFAND6 0 genome.wustl.edu 37 15 80423675 80423675 + Missense_Mutation SNP T T G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 15 80423675 80423675 T G SNP ZFAND6 ENST00000558688 human ensembl 74_37 +1 putative missense c.518 p.F173C 0.000 NULL pfam_Znf_A20,smart_Znf_A20,pfscan_Znf_A20 - no_errors ZFAND6 HGNC ENSG00000086666 tier1 - - 19 0 0.00 16 3 15.79 ZFP57 0 genome.wustl.edu 37 6 29640996 29640996 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 6 29640996 29640996 G A SNP ZFP57 ENST00000488757 human ensembl 74_37 -1 known missense c.892 p.P298S 0.007 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 ZFP57 HGNC ENSG00000204644 tier1 - - 113 0 0.00 97 30 23.62 ZNF132 0 genome.wustl.edu 37 19 58946575 58946575 + Missense_Mutation SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 19 58946575 58946575 G T SNP ZNF132 ENST00000254166 human ensembl 74_37 -1 known missense c.236 p.S79Y 0.041 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 ZNF132 HGNC ENSG00000131849 31 0 0.00 22 3 12.00 ZNF195 0 genome.wustl.edu 37 11 3380466 3380466 + Nonsense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 11 3380466 3380466 G C SNP ZNF195 ENST00000399602 human ensembl 74_37 -1 known nonsense c.1772 p.S591* 0.003 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 ZNF195 HGNC ENSG00000005801 tier1 - - 52 0 0.00 33 17 34.00 ZNF280A 0 genome.wustl.edu 37 22 22869365 22869365 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 22 22869365 22869365 G C SNP ZNF280A ENST00000302097 human ensembl 74_37 -1 known missense c.590 p.P197R 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280A HGNC ENSG00000169548 tier1 - - 40 0 0.00 49 5 9.26 ZNF318 0 genome.wustl.edu 37 6 43307265 43307265 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 6 43307265 43307265 C T SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known missense c.4471 p.V1491M 0.345 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 tier1 - - 50 0 0.00 60 4 6.25 ZNF678 0 genome.wustl.edu 37 1 227842420 227842420 + Nonsense_Mutation SNP G G T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 1 227842420 227842420 G T SNP ZNF678 ENST00000397097 human ensembl 74_37 +1 known nonsense c.634 p.E212* 0.306 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 ZNF678 HGNC ENSG00000181450 tier1 - - 9 0 0.00 12 8 40.00 ZNF702P 0 genome.wustl.edu 37 19 53472838 53472838 + RNA SNP A A G TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 19 53472838 53472838 A G SNP ZNF702P ENST00000270443 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ZNF702P HGNC ENSG00000242779 tier1 - - 34 0 0.00 26 9 25.71 ZNF721 0 genome.wustl.edu 37 4 438198 438198 + Missense_Mutation SNP C C T TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 4 438198 438198 C T SNP ZNF721 ENST00000511833 human ensembl 74_37 -1 known missense c.58 p.D20N 0.049 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 tier1 - - 42 0 0.00 35 18 33.96 ZNF844 0 genome.wustl.edu 37 19 12186303 12186303 + Missense_Mutation SNP G G C TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e76b7ff1-70d7-46fb-82ad-e5b852bf6d83 50f9a9ff-a202-4715-b353-26da91902aca 19 12186303 12186303 G C SNP ZNF844 ENST00000439326 human ensembl 74_37 +1 known missense c.368 p.R123T 0.033 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF844 HGNC ENSG00000223547 tier1 - - 36 0 0.00 31 22 41.51