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 AASS 0 genome.wustl.edu 37 7 121753715 121753715 + Missense_Mutation SNP T T A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 7 121753715 121753715 T A SNP AASS ENST00000393376 human ensembl 74_37 -1 known missense c.1103 p.E368V 1.000 pfam_AlaDH/PNT_NAD(H)-bd pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N - no_errors AASS HGNC ENSG00000008311 tier1 - - 18 0 0.00 5 11 68.75 AASS 0 genome.wustl.edu 37 7 121756943 121756943 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 7 121756943 121756943 G A SNP AASS ENST00000393376 human ensembl 74_37 -1 known silent c.756 p.S252 0.155 pfam_AlaDH/PNT_NAD(H)-bd pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N - no_errors AASS HGNC ENSG00000008311 53 0 0.00 33 2 5.71 ABCA13 0 genome.wustl.edu 37 7 48321028 48321028 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 7 48321028 48321028 C T SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.8815 p.R2939C 0.003 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 37 0 0.00 9 13 59.09 ABCA6 0 genome.wustl.edu 37 17 67094077 67094077 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 67094077 67094077 C T SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known missense c.3104 p.S1035N 0.990 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 tier1 - - 71 0 0.00 71 4 5.33 ABCB6 0 genome.wustl.edu 37 2 220078017 220078017 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 220078017 220078017 C T SNP ABCB6 ENST00000265316 human ensembl 74_37 -1 known missense c.1751 p.R584H 0.001 superfamily_P-loop_NTPase pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB6 HGNC ENSG00000115657 tier1 rs145498806 - 42 0 0.00 24 8 25.00 ADAM23 0 genome.wustl.edu 37 2 207437884 207437884 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 207437884 207437884 G T SNP ADAM23 ENST00000264377 human ensembl 74_37 +1 known missense c.1702 p.D568Y 1.000 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 tier1 - - 98 0 0.00 61 4 6.15 ADPRM 0 genome.wustl.edu 37 17 10609815 10609815 + Nonsense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 10609815 10609815 G A SNP ADPRM ENST00000379774 human ensembl 74_37 +1 known nonsense c.662 p.W221* 1.000 pfam_PEstase_dom pfam_PEstase_dom - no_errors ADPRM HGNC ENSG00000170222 tier1 - - 61 0 0.00 12 27 69.23 ADRA1D 0 genome.wustl.edu 37 20 4202294 4202294 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 20 4202294 4202294 G A SNP ADRA1D ENST00000379453 human ensembl 74_37 -1 known missense c.1595 p.A532V 0.006 prints_ADRA1D_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_ADRA1D_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,pfscan_GPCR_Rhodpsn_7TM - no_errors ADRA1D HGNC ENSG00000171873 tier1 - - 37 0 0.00 27 14 34.15 ADSL 0 genome.wustl.edu 37 22 40761047 40761047 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 22 40761047 40761047 G T SNP ADSL ENST00000454266 human ensembl 74_37 +1 known missense c.1397 p.R466L 1.000 pfam_AdenyloSucc_lyase_C,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 - - 59 0 0.00 29 8 21.62 AFF2 0 genome.wustl.edu 37 X 148037969 148037969 + Silent SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 X 148037969 148037969 G T SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known silent c.2394 p.L798 0.025 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 tier1 - - 46 0 0.00 16 17 51.52 AFG3L2 0 genome.wustl.edu 37 18 12356720 12356720 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 18 12356720 12356720 C T SNP AFG3L2 ENST00000269143 human ensembl 74_37 -1 known silent c.1137 p.E379 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors AFG3L2 HGNC ENSG00000141385 tier1 - - 51 0 0.00 32 25 43.86 AGBL4 0 genome.wustl.edu 37 1 49052820 49052820 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 49052820 49052820 G A SNP AGBL4 ENST00000371839 human ensembl 74_37 -1 known missense c.1123 p.R375W 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,smart_Peptidase_M14 - no_errors AGBL4 HGNC ENSG00000186094 tier1 - - 35 0 0.00 27 11 28.95 AGO4 0 genome.wustl.edu 37 1 36291296 36291296 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 36291296 36291296 C T SNP AGO4 ENST00000373210 human ensembl 74_37 +1 known missense c.505 p.R169C 1.000 pfam_DUF1785,superfamily_PAZ_dom pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO4 HGNC ENSG00000134698 tier1 - - 40 0 0.00 43 17 27.87 AHNAK 0 genome.wustl.edu 37 11 62284501 62284501 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 62284501 62284501 C T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.17388 p.T5796 0.012 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 40 0 0.00 28 10 26.32 AHNAK 0 genome.wustl.edu 37 11 62299944 62299944 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 62299944 62299944 G A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.1945 p.H649Y 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 87 0 0.00 67 26 27.96 AKT2 0 genome.wustl.edu 37 19 40761157 40761157 + Nonsense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 40761157 40761157 G A SNP AKT2 ENST00000391844 human ensembl 74_37 -1 known nonsense c.19 p.R7* 0.029 NULL NULL - no_errors AKT2 HGNC ENSG00000105221 tier1 - - 37 0 0.00 21 8 27.59 ALDOC 0 genome.wustl.edu 37 17 26900790 26900790 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 26900790 26900790 G A SNP ALDOC ENST00000226253 human ensembl 74_37 -1 known missense c.962 p.A321V 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOC HGNC ENSG00000109107 tier1 - - 54 0 0.00 54 4 6.90 ALOX12 0 genome.wustl.edu 37 17 6899505 6899505 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 6899505 6899505 G A SNP ALOX12 ENST00000251535 human ensembl 74_37 +1 known silent c.69 p.Q23 1.000 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX12 HGNC ENSG00000108839 tier1 - - 25 0 0.00 7 7 50.00 AMOTL2 0 genome.wustl.edu 37 3 134079102 134079102 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 134079102 134079102 G A SNP AMOTL2 ENST00000249883 human ensembl 74_37 -1 known missense c.1729 p.R577C 1.000 pfam_Angiomotin_C pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 tier1 - - 71 0 0.00 32 9 21.95 AMPH 0 genome.wustl.edu 37 7 38468649 38468649 + RNA SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 7 38468649 38468649 T G SNP AMPH ENST00000467580 human ensembl 74_37 -1 known rna NULL NULL 0.967 - - - no_errors AMPH HGNC ENSG00000078053 tier1 - - 36 0 0.00 60 8 11.76 ANGPTL5 0 genome.wustl.edu 37 11 101773359 101773359 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 101773359 101773359 G T SNP ANGPTL5 ENST00000334289 human ensembl 74_37 -1 known missense c.533 p.P178Q 1.000 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,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL5 HGNC ENSG00000187151 tier1 - - 58 0 0.00 59 4 6.35 ANK2 0 genome.wustl.edu 37 4 114158193 114158193 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 4 114158193 114158193 G A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known silent c.534 p.A178 0.136 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 tier1 - - 27 0 0.00 11 10 47.62 ANK2 0 genome.wustl.edu 37 4 114199051 114199051 + Missense_Mutation SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 4 114199051 114199051 T G SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.1742 p.L581R 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 tier1 - - 42 0 0.00 15 8 34.78 ANKFN1 0 genome.wustl.edu 37 17 54588160 54588160 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 54588160 54588160 C T SNP ANKFN1 ENST00000566473 human ensembl 74_37 +1 novel missense c.2980 p.R994W 0.231 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ENSG00000153930 tier1 - - 43 0 0.00 33 10 23.26 ANKRD34B 0 genome.wustl.edu 37 5 79854965 79854965 + Missense_Mutation SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 79854965 79854965 T C SNP ANKRD34B ENST00000338682 human ensembl 74_37 -1 known missense c.874 p.T292A 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34B HGNC ENSG00000189127 30 0 0.00 18 2 10.00 ANKRD42 0 genome.wustl.edu 37 11 82935967 82935967 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 82935967 82935967 G A SNP ANKRD42 ENST00000393392 human ensembl 74_37 +1 known silent c.573 p.T191 0.074 superfamily_Ankyrin_rpt-contain_dom,smart_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 ANKRD42 HGNC ENSG00000137494 tier1 rs145591736 - 100 0 0.00 71 16 18.39 ANKRD44 0 genome.wustl.edu 37 2 197855536 197855536 + RNA SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 197855536 197855536 G A SNP ANKRD44 ENST00000493808 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ANKRD44 HGNC ENSG00000065413 tier1 - - 51 0 0.00 29 10 25.64 ANKS3 0 genome.wustl.edu 37 16 4747105 4747105 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 16 4747105 4747105 C T SNP ANKS3 ENST00000304283 human ensembl 74_37 -1 known missense c.1895 p.G632E 0.997 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS3 HGNC ENSG00000168096 tier1 - - 64 0 0.00 43 18 29.51 AP1G1 0 genome.wustl.edu 37 16 71790060 71790060 + Missense_Mutation SNP C C G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 16 71790060 71790060 C G SNP AP1G1 ENST00000433195 human ensembl 74_37 -1 known missense c.1160 p.R387P 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G1 HGNC ENSG00000166747 tier1 - - 49 0 0.00 42 11 20.75 AP3B2 0 genome.wustl.edu 37 15 83349264 83349264 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 15 83349264 83349264 C T SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known missense c.1015 p.V339I 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 9 0 0.00 7 6 46.15 APCDD1L 0 genome.wustl.edu 37 20 57036333 57036333 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 20 57036333 57036333 G A SNP APCDD1L ENST00000439429 human ensembl 74_37 -1 known missense c.1052 p.T351M 0.011 NULL NULL - no_errors APCDD1L HGNC ENSG00000198768 tier1 - - 72 0 0.00 47 34 41.98 APOB 0 genome.wustl.edu 37 2 21234673 21234673 + Silent SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 21234673 21234673 G T SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.5067 p.R1689 0.995 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 35 0 0.00 23 5 17.86 APOBEC2 0 genome.wustl.edu 37 6 41029167 41029167 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 41029167 41029167 G T SNP APOBEC2 ENST00000244669 human ensembl 74_37 +1 known missense c.232 p.G78C 0.589 pfam_APOBEC_N pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC2 HGNC ENSG00000124701 49 0 0.00 48 3 5.88 APRT 0 genome.wustl.edu 37 16 88876151 88876151 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 16 88876151 88876151 C T SNP APRT ENST00000378364 human ensembl 74_37 -1 known silent c.498 p.E166 1.000 tigrfam_Ade_phspho_trans pfam_PRibTrfase_dom,tigrfam_Ade_phspho_trans - no_errors APRT HGNC ENSG00000198931 tier1 - - 32 0 0.00 23 8 25.81 ARID1A 0 genome.wustl.edu 37 1 27057972 27057972 + Nonsense_Mutation SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 27057972 27057972 C A SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.1680 p.Y560* 1.000 NULL 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 ARID1A HGNC ENSG00000117713 tier1 - - 77 0 0.00 42 11 20.75 ASF1A 0 genome.wustl.edu 37 6 119228739 119228739 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 119228739 119228739 C T SNP ASF1A ENST00000229595 human ensembl 74_37 +1 known missense c.575 p.S192L 1.000 NULL pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like - no_errors ASF1A HGNC ENSG00000111875 tier1 - - 57 0 0.00 19 15 44.12 ASIC2 0 genome.wustl.edu 37 17 31619013 31619013 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 31619013 31619013 C T SNP ASIC2 ENST00000225823 human ensembl 74_37 -1 known missense c.121 p.G41S 0.679 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC2 HGNC ENSG00000108684 tier1 - - 17 0 0.00 19 7 26.92 ASZ1 0 genome.wustl.edu 37 7 117003691 117003691 + Missense_Mutation SNP A A T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 7 117003691 117003691 A T SNP ASZ1 ENST00000284629 human ensembl 74_37 -1 known missense c.1387 p.F463I 0.999 NULL pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ASZ1 HGNC ENSG00000154438 tier1 - - 84 0 0.00 38 4 9.52 ATP10D 0 genome.wustl.edu 37 4 47525147 47525147 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 4 47525147 47525147 G T SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known missense c.604 p.D202Y 0.970 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10D HGNC ENSG00000145246 62 0 0.00 31 2 6.06 B3GAT1 0 genome.wustl.edu 37 11 134253580 134253580 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 134253580 134253580 G A SNP B3GAT1 ENST00000537389 human ensembl 74_37 -1 known silent c.654 p.F218 0.987 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT1 HGNC ENSG00000109956 tier1 - - 46 0 0.00 20 10 33.33 BAHCC1 0 genome.wustl.edu 37 17 79412612 79412612 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 79412612 79412612 C T SNP BAHCC1 ENST00000307745 human ensembl 74_37 +1 known missense c.3068 p.A1023V 0.002 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors RP11-1055B8.7 Clone_based_vega_gene ENSG00000171282 tier1 - - 58 0 0.00 42 4 8.70 BCMO1 0 genome.wustl.edu 37 16 81293400 81293401 + Frame_Shift_Del DEL AT AT - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 16 81293400 81293401 AT - DEL BCMO1 ENST00000258168 human ensembl 74_37 +1 known frame_shift_del c.313_314 p.S107fs 1.000:1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCMO1 HGNC ENSG00000135697 tier1 79 0 0.00 47 12 20.34 BCOR 0 genome.wustl.edu 37 X 39934109 39934110 + Frame_Shift_Ins INS - - T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 X 39934109 39934110 - T INS BCOR ENST00000378444 human ensembl 74_37 -1 known frame_shift_ins c.490_489 p.E163fs 0.997:0.639 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 tier1 35 0 0.00 9 42 82.35 BDP1 0 genome.wustl.edu 37 5 70808097 70808097 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 70808097 70808097 G T SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.4089 p.M1363I 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 tier1 - - 76 0 0.00 64 4 5.88 BDP1 0 genome.wustl.edu 37 5 70860608 70860608 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 70860608 70860608 G A SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.7771 p.E2591K 0.858 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 tier1 - - 63 0 0.00 29 9 23.08 BIRC6 0 genome.wustl.edu 37 2 32740345 32740345 + Silent SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 32740345 32740345 T C SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known silent c.10857 p.S3619 0.998 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 - - 50 0 0.00 44 4 8.33 BRCA1 0 genome.wustl.edu 37 17 41276051 41276051 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 41276051 41276051 G A SNP BRCA1 ENST00000471181 human ensembl 74_37 -1 known silent c.63 p.I21 1.000 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 tier1 - - 27 0 0.00 42 9 17.65 BTN3A1 0 genome.wustl.edu 37 6 26413495 26413495 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 26413495 26413495 G A SNP BTN3A1 ENST00000289361 human ensembl 74_37 +1 known missense c.1117 p.D373N 0.027 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN3A1 HGNC ENSG00000026950 tier1 - - 92 0 0.00 60 17 22.08 BUD13 0 genome.wustl.edu 37 11 116631632 116631632 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 116631632 116631632 G A SNP BUD13 ENST00000260210 human ensembl 74_37 -1 known missense c.1073 p.S358F 1.000 NULL pfam_Bud13 - no_errors BUD13 HGNC ENSG00000137656 tier1 - - 98 0 0.00 68 25 26.60 C10orf112 0 genome.wustl.edu 37 10 19498361 19498361 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 10 19498361 19498361 G A SNP C10orf112 ENST00000454679 human ensembl 74_37 +1 known missense c.631 p.E211K 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom - no_errors C10orf112 HGNC ENSG00000204740 tier1 - - 51 0 0.00 47 9 16.07 C10orf71 0 genome.wustl.edu 37 10 50530731 50530731 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 10 50530731 50530731 C T SNP C10orf71 ENST00000374144 human ensembl 74_37 +1 known silent c.141 p.S47 0.947 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 tier1 - - 44 0 0.00 30 15 33.33 C1orf94 0 genome.wustl.edu 37 1 34663145 34663145 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 34663145 34663145 G A SNP C1orf94 ENST00000488417 human ensembl 74_37 +1 known missense c.640 p.A214T 0.713 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 tier1 rs202207825 - 25 0 0.00 9 11 55.00 C1orf94 0 genome.wustl.edu 37 1 34643651 34643651 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 34643651 34643651 G T SNP C1orf94 ENST00000488417 human ensembl 74_37 +1 known missense c.261 p.E87D 0.992 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 42 0 0.00 29 3 9.38 C2orf16 0 genome.wustl.edu 37 2 27802662 27802662 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 27802662 27802662 G A SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known missense c.3223 p.A1075T 0.543 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 34 0 0.00 19 2 9.52 C5orf34 0 genome.wustl.edu 37 5 43494614 43494614 + Silent SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 43494614 43494614 T C SNP C5orf34 ENST00000306862 human ensembl 74_37 -1 known silent c.1242 p.T414 0.912 NULL NULL - no_errors C5orf34 HGNC ENSG00000172244 tier1 - - 51 0 0.00 66 4 5.71 C5orf54 0 genome.wustl.edu 37 5 159821727 159821727 + Silent SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 159821727 159821727 G T SNP C5orf54 ENST00000408953 human ensembl 74_37 -1 known silent c.771 p.A257 0.981 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors C5orf54 HGNC ENSG00000221886 33 0 0.00 22 2 8.33 C5orf56 0 genome.wustl.edu 37 5 131811657 131811657 + RNA SNP A A G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 131811657 131811657 A G SNP C5orf56 ENST00000464024 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors C5orf56 HGNC ENSG00000197536 tier1 - - 58 0 0.00 37 14 27.45 CACTIN 0 genome.wustl.edu 37 19 3624063 3624063 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 3624063 3624063 C T SNP CACTIN ENST00000221899 human ensembl 74_37 -1 known missense c.61 p.D21N 0.553 NULL pfam_Cactin_dom,pfam_Cactin_C - no_errors CACTIN HGNC ENSG00000105298 tier1 - - 54 0 0.00 21 4 16.00 CAD 0 genome.wustl.edu 37 2 27454356 27454356 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 27454356 27454356 C T SNP CAD ENST00000264705 human ensembl 74_37 +1 known missense c.2308 p.R770C 1.000 prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 tier1 - - 69 0 0.00 42 15 26.32 CADM3 0 genome.wustl.edu 37 1 159162426 159162426 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 159162426 159162426 C T SNP CADM3 ENST00000368124 human ensembl 74_37 +1 known silent c.390 p.S130 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM3 HGNC ENSG00000162706 tier1 - - 39 0 0.00 26 19 42.22 CAPN2 0 genome.wustl.edu 37 1 223958169 223958169 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 223958169 223958169 C T SNP CAPN2 ENST00000295006 human ensembl 74_37 +1 known silent c.1845 p.D615 0.151 pfscan_EF_hand_dom pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN2 HGNC ENSG00000162909 tier1 - - 51 0 0.00 51 10 16.39 CAPN6 0 genome.wustl.edu 37 X 110496350 110496350 + Missense_Mutation SNP C C G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 X 110496350 110496350 C G SNP CAPN6 ENST00000324068 human ensembl 74_37 -1 known missense c.392 p.W131S 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC ENSG00000077274 tier1 - - 43 0 0.00 36 5 12.20 CASK 0 genome.wustl.edu 37 X 41519766 41519766 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 X 41519766 41519766 C T SNP CASK ENST00000378163 human ensembl 74_37 -1 known missense c.757 p.V253I 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_GK/Ca_channel_bsu,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Guanylate_kin-like - no_errors CASK HGNC ENSG00000147044 tier1 - - 37 0 0.00 12 37 75.51 CASS4 0 genome.wustl.edu 37 20 55027468 55027468 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 20 55027468 55027468 G A SNP CASS4 ENST00000360314 human ensembl 74_37 +1 known silent c.1236 p.S412 0.000 NULL pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 tier1 - - 13 0 0.00 8 10 55.56 CBWD6 0 genome.wustl.edu 37 9 69205673 69205673 + RNA SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 9 69205673 69205673 T C SNP CBWD6 ENST00000477430 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CBWD6 HGNC ENSG00000204790 tier1 - - 92 0 0.00 64 16 20.00 CCDC30 0 genome.wustl.edu 37 1 43110423 43110423 + Missense_Mutation SNP A A T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 43110423 43110423 A T SNP CCDC30 ENST00000340612 human ensembl 74_37 +1 known missense c.1835 p.Q612L 0.819 NULL NULL - no_errors CCDC30 HGNC ENSG00000186409 tier1 - - 67 0 0.00 58 4 6.45 CCDC50 0 genome.wustl.edu 37 3 191093190 191093190 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 191093190 191093190 G A SNP CCDC50 ENST00000392456 human ensembl 74_37 +1 known missense c.788 p.R263Q 0.007 NULL NULL - no_errors CCDC50 HGNC ENSG00000152492 36 0 0.00 26 2 7.14 CCT5 0 genome.wustl.edu 37 5 10263283 10263283 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 10263283 10263283 C T SNP CCT5 ENST00000280326 human ensembl 74_37 +1 known missense c.1355 p.A452V 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_epsi pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi - no_errors CCT5 HGNC ENSG00000150753 tier1 - - 40 0 0.00 36 4 10.00 CD1E 0 genome.wustl.edu 37 1 158324252 158324252 + Missense_Mutation SNP C C G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 158324252 158324252 C G SNP CD1E ENST00000368167 human ensembl 74_37 +1 known missense c.144 p.H48Q 0.966 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1E HGNC ENSG00000158488 tier1 - - 29 0 0.00 14 13 48.15 CD4 0 genome.wustl.edu 37 12 6926358 6926358 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 6926358 6926358 C T SNP CD4 ENST00000011653 human ensembl 74_37 +1 known silent c.1018 p.L340 0.955 pfam_Ig_C2-set pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 tier1 - - 73 0 0.00 28 21 42.86 CDC5L 0 genome.wustl.edu 37 6 44387254 44387254 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 44387254 44387254 G T SNP CDC5L ENST00000371477 human ensembl 74_37 +1 known missense c.1161 p.L387F 1.000 pfam_DUF3351 pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 tier1 - - 42 0 0.00 53 4 7.02 CDH13 0 genome.wustl.edu 37 16 83250962 83250962 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 16 83250962 83250962 G A SNP CDH13 ENST00000566620 human ensembl 74_37 +1 known missense c.496 p.D166N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 tier1 - - 74 0 0.00 34 37 52.11 CENPT 0 genome.wustl.edu 37 16 67866432 67866432 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 16 67866432 67866432 G A SNP CENPT ENST00000219172 human ensembl 74_37 -1 known missense c.127 p.L43F 0.010 NULL superfamily_Histone-fold - no_errors CENPT HGNC ENSG00000102901 tier1 - - 54 0 0.00 23 22 48.89 CHD9 0 genome.wustl.edu 37 16 53272290 53272290 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 16 53272290 53272290 G A SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.2669 p.G890D 1.000 pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 tier1 - - 58 0 0.00 31 11 26.19 CHRFAM7A 0 genome.wustl.edu 37 15 30659629 30659629 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 15 30659629 30659629 G T SNP CHRFAM7A ENST00000299847 human ensembl 74_37 -1 known missense c.712 p.P238T 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel - no_errors CHRFAM7A HGNC ENSG00000166664 tier1 - - 41 0 0.00 25 4 13.79 CIITA 0 genome.wustl.edu 37 16 11000762 11000762 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 16 11000762 11000762 C T SNP CIITA ENST00000324288 human ensembl 74_37 +1 known silent c.1413 p.S471 0.001 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 tier1 - - 35 0 0.00 36 17 32.08 CIT 0 genome.wustl.edu 37 12 120222019 120222019 + RNA SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 120222019 120222019 A C SNP CIT ENST00000537607 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors CIT HGNC ENSG00000122966 tier1 - - 56 0 0.00 29 20 40.82 CLDN12 0 genome.wustl.edu 37 7 90042487 90042487 + Missense_Mutation SNP A A G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 7 90042487 90042487 A G SNP CLDN12 ENST00000287916 human ensembl 74_37 +1 known missense c.497 p.E166G 1.000 NULL prints_Claudin12 - no_errors CLDN12 HGNC ENSG00000157224 tier1 - - 33 0 0.00 22 3 12.00 CMKLR1 0 genome.wustl.edu 37 12 108686358 108686358 + Missense_Mutation SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 108686358 108686358 A C SNP CMKLR1 ENST00000312143 human ensembl 74_37 -1 known missense c.382 p.F128V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt - no_errors CMKLR1 HGNC ENSG00000174600 tier1 - - 39 0 0.00 35 11 23.91 CNTN3 0 genome.wustl.edu 37 3 74411155 74411155 + Missense_Mutation SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 74411155 74411155 T G SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.1250 p.K417T 0.703 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 tier1 - - 37 0 0.00 24 19 44.19 CNTN4 0 genome.wustl.edu 37 3 3084090 3084090 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 3084090 3084090 G T SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.2495 p.R832L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 tier1 - - 44 0 0.00 32 10 23.81 COL1A2 0 genome.wustl.edu 37 7 94052362 94052362 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 7 94052362 94052362 G A SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.2497 p.E833K 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 tier1 - - 61 0 0.00 30 13 30.23 COL6A3 0 genome.wustl.edu 37 2 238280852 238280852 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 238280852 238280852 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.3808 p.R1270W 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 59 0 0.00 17 7 29.17 COMMD4 0 genome.wustl.edu 37 15 75628657 75628657 + RNA SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 15 75628657 75628657 A C SNP COMMD4 ENST00000561662 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors COMMD4 HGNC ENSG00000140365 tier1 - - 17 0 0.00 14 4 22.22 CPEB2 0 genome.wustl.edu 37 4 15004737 15004739 + In_Frame_Del DEL CCT CCT - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 4 15004737 15004739 CCT - DEL CPEB2 ENST00000538197 human ensembl 74_37 +1 known in_frame_del c.440_442 p.S151in_frame_del 1.000:1.000:0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 tier1 21 0 0.00 6 2 25.00 CPXCR1 0 genome.wustl.edu 37 X 88008520 88008520 + Silent SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 X 88008520 88008520 T C SNP CPXCR1 ENST00000276127 human ensembl 74_37 +1 known silent c.105 p.S35 0.000 NULL pfscan_Znf_C2H2 - no_errors CPXCR1 HGNC ENSG00000147183 tier1 - - 44 0 0.00 6 35 85.37 CRTC1 0 genome.wustl.edu 37 19 18885765 18885765 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 18885765 18885765 C T SNP CRTC1 ENST00000338797 human ensembl 74_37 +1 known missense c.1529 p.A510V 0.995 NULL NULL - no_errors CRTC1 HGNC ENSG00000105662 tier1 - - 53 0 0.00 26 11 29.73 CSMD3 0 genome.wustl.edu 37 8 113249507 113249507 + Silent SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 8 113249507 113249507 G T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.10539 p.P3513 0.755 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 52 0 0.00 61 7 10.29 CSMD3 0 genome.wustl.edu 37 8 114111053 114111053 + Missense_Mutation SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 8 114111053 114111053 A C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.849 p.F283L 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 CSMD3 HGNC ENSG00000164796 tier1 - - 58 0 0.00 45 14 23.73 CTNNA2 0 genome.wustl.edu 37 2 80136780 80136780 + Nonsense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 80136780 80136780 G T SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known nonsense c.1015 p.E339* 1.000 pfam_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 27 0 0.00 27 2 6.90 CUX2 0 genome.wustl.edu 37 12 111776207 111776207 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 111776207 111776207 G A SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known missense c.3314 p.R1105H 1.000 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 39 0 0.00 37 5 11.90 DCAF12L2 0 genome.wustl.edu 37 X 125299490 125299490 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 X 125299490 125299490 C T SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.418 p.E140K 0.009 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 tier1 - - 61 0 0.00 23 19 45.24 DDX55 0 genome.wustl.edu 37 12 124104544 124104546 + In_Frame_Del DEL CTT CTT - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 124104544 124104546 CTT - DEL DDX55 ENST00000238146 human ensembl 74_37 +1 known in_frame_del c.1660_1662 p.L555in_frame_del 1.000:1.000:0.978 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX55 HGNC ENSG00000111364 tier1 35 0 0.00 35 8 18.60 DEPDC1 0 genome.wustl.edu 37 1 68943645 68943645 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 68943645 68943645 G T SNP DEPDC1 ENST00000456315 human ensembl 74_37 -1 known missense c.2123 p.P708H 0.590 NULL pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC1 HGNC ENSG00000024526 50 0 0.00 34 4 10.53 DGCR14 0 genome.wustl.edu 37 22 19121854 19121854 + Missense_Mutation SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 22 19121854 19121854 T C SNP DGCR14 ENST00000252137 human ensembl 74_37 -1 known missense c.1286 p.K429R 1.000 NULL pfam_Nuclear_protein_DGCR14 - no_errors DGCR14 HGNC ENSG00000100056 tier1 - - 99 0 0.00 33 4 10.81 DIAPH2 0 genome.wustl.edu 37 X 96354739 96354739 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 X 96354739 96354739 C T SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known missense c.2294 p.A765V 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 tier1 - - 18 0 0.00 4 26 86.67 DIXDC1 0 genome.wustl.edu 37 11 111851550 111851550 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 111851550 111851550 G A SNP DIXDC1 ENST00000440460 human ensembl 74_37 +1 known missense c.745 p.A249T 0.933 NULL pfam_DIX,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_DIX,pfscan_CH-domain,pfscan_DIX - no_errors DIXDC1 HGNC ENSG00000150764 tier1 - - 42 0 0.00 23 9 28.12 DLG2 0 genome.wustl.edu 37 11 83641482 83641482 + Missense_Mutation SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 83641482 83641482 T C SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.1385 p.K462R 1.000 pirsf_M-assoc_guanylate_kinase pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 tier1 - - 51 0 0.00 21 24 53.33 DMRT1 0 genome.wustl.edu 37 9 847138 847138 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 9 847138 847138 C T SNP DMRT1 ENST00000382276 human ensembl 74_37 +1 known missense c.533 p.A178V 0.037 pfam_DMRT1-like pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT1 HGNC ENSG00000137090 tier1 - - 78 0 0.00 49 21 30.00 DNAH11 0 genome.wustl.edu 37 7 21583015 21583015 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 7 21583015 21583015 G A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.152 p.R51Q 0.119 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 tier1 - - 34 0 0.00 73 9 10.98 DNAH11 0 genome.wustl.edu 37 7 21598459 21598459 + Missense_Mutation SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 7 21598459 21598459 T C SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.535 p.S179P 0.007 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 tier1 - - 46 0 0.00 70 22 23.91 DNAH2 0 genome.wustl.edu 37 17 7646597 7646597 + Frame_Shift_Del DEL T T - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 7646597 7646597 T - DEL DNAH2 ENST00000082259 human ensembl 74_37 +1 known frame_shift_del c.2287 p.S766fs 0.000 NULL pfam_Dynein_heavy_dom-1 - no_errors DNAH2 HGNC ENSG00000183914 tier1 70 0 0.00 13 22 62.86 DNHD1 0 genome.wustl.edu 37 11 6578477 6578477 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 6578477 6578477 C T SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.7952 p.A2651V 1.000 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 tier1 - - 39 0 0.00 22 17 43.59 DNM1P47 0 genome.wustl.edu 37 15 102304374 102304374 + RNA SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 15 102304374 102304374 G A SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 43 0 0.00 39 6 13.33 DOCK3 0 genome.wustl.edu 37 3 51395429 51395429 + Missense_Mutation SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 51395429 51395429 A C SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.4805 p.K1602T 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 - - 64 0 0.00 62 9 12.68 DPEP3 0 genome.wustl.edu 37 16 68014007 68014007 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 16 68014007 68014007 G A SNP DPEP3 ENST00000268793 human ensembl 74_37 -1 known missense c.352 p.L118F 0.038 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP3 HGNC ENSG00000141096 tier1 - - 85 0 0.00 58 24 29.27 DSCAML1 0 genome.wustl.edu 37 11 117651360 117651360 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 117651360 117651360 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.392 p.P131L 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 tier1 - - 30 0 0.00 22 7 24.14 DYNC1H1 0 genome.wustl.edu 37 14 102467317 102467317 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 14 102467317 102467317 G A SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known silent c.4101 p.L1367 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 - - 69 0 0.00 56 24 30.00 ECEL1 0 genome.wustl.edu 37 2 233347591 233347591 + Missense_Mutation SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 233347591 233347591 T G SNP ECEL1 ENST00000304546 human ensembl 74_37 -1 known missense c.1655 p.K552T 1.000 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 tier1 - - 50 0 0.00 17 5 22.73 EDIL3 0 genome.wustl.edu 37 5 83356228 83356228 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 83356228 83356228 G A SNP EDIL3 ENST00000296591 human ensembl 74_37 -1 known missense c.1028 p.T343M 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC ENSG00000164176 tier1 - - 69 0 0.00 41 14 25.45 EHMT1 0 genome.wustl.edu 37 9 140728899 140728899 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 9 140728899 140728899 C T SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known silent c.3639 p.F1213 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 tier1 - - 89 0 0.00 48 20 28.99 EIF3J-AS1 0 genome.wustl.edu 37 15 44828926 44828926 + RNA SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 15 44828926 44828926 G T SNP EIF3J-AS1 ENST00000313807 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EIF3J-AS1 HGNC ENSG00000179523 tier1 - - 102 0 0.00 21 52 71.23 ELF5 0 genome.wustl.edu 37 11 34502402 34502402 + Silent SNP A A G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 34502402 34502402 A G SNP ELF5 ENST00000312319 human ensembl 74_37 -1 known silent c.618 p.V206 0.536 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF5 HGNC ENSG00000135374 tier1 - - 62 0 0.00 61 4 6.15 EML4 0 genome.wustl.edu 37 2 42508091 42508091 + Missense_Mutation SNP G G C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 42508091 42508091 G C SNP EML4 ENST00000318522 human ensembl 74_37 +1 known missense c.769 p.E257Q 1.000 pfam_HELP,superfamily_Quinonprotein_ADH-like_supfam pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC ENSG00000143924 tier1 - - 41 0 0.00 36 8 18.18 ENSG00000214915 0 genome.wustl.edu 37 X 150684497 150684497 + RNA SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 X 150684497 150684497 C T SNP ENSG00000214915 ENST00000454307 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors XX-FW80269A6.1 Clone_based_vega_gene ENSG00000214915 tier1 - - 96 0 0.00 22 82 78.85 ENSG00000221660 0 genome.wustl.edu 37 8 68623922 68623925 + RNA DEL ACAC ACAC - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 ACAC ACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 8 68623922 68623925 ACAC - DEL ENSG00000221660 ENST00000408733 human ensembl 74_37 +1 novel rna NULL NULL 0.004:0.006:0.011:0.014 - - - no_errors AC022861.1 Clone_based_ensembl_gene ENSG00000221660 tier1 38 0 0.00 28 3 9.68 ENSG00000225490 0 genome.wustl.edu 37 20 29521777 29521777 + RNA SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 20 29521777 29521777 G A SNP ENSG00000225490 ENST00000454331 human ensembl 74_37 -1 known rna NULL NULL 0.986 - - - no_errors RP4-610C12.3 Clone_based_vega_gene ENSG00000225490 tier1 - - 74 0 0.00 68 16 19.05 ENSG00000236295 0 genome.wustl.edu 37 2 217735202 217735202 + RNA DEL A A - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 217735202 217735202 A - DEL ENSG00000236295 ENST00000418591 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors AC007563.1 Clone_based_vega_gene ENSG00000236295 tier1 14 0 0.00 12 4 25.00 ENSG00000241431 0 genome.wustl.edu 37 8 57501242 57501242 + RNA SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 8 57501242 57501242 G A SNP ENSG00000241431 ENST00000464216 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-17A4.1 Clone_based_vega_gene ENSG00000241431 tier1 - - 24 0 0.00 3 10 76.92 ENSG00000248138 0 genome.wustl.edu 37 4 16513575 16513576 + RNA INS - - A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 4 16513575 16513576 - A INS ENSG00000248138 ENST00000512370 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-446J8.1 Clone_based_vega_gene ENSG00000248138 tier1 46 0 0.00 15 2 11.76 ENSG00000261405 0 genome.wustl.edu 37 16 33365420 33365420 + RNA DEL A A - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 16 33365420 33365420 A 0 DEL ENSG00000261405 ENST00000568520 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-23E10.4 Clone_based_vega_gene ENSG00000261405 63 0 0.00 45 7 13.46 ENSG00000267776 0 genome.wustl.edu 37 19 56888217 56888218 + RNA INS - - T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 56888217 56888218 - T INS ENSG00000267776 ENST00000591836 human ensembl 74_37 -1 known rna NULL NULL 0.016:0.075 - - - no_errors AC006116.24 Clone_based_vega_gene ENSG00000267776 tier1 12 0 0.00 8 7 46.67 ENTHD2 0 genome.wustl.edu 37 17 79207238 79207238 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 79207238 79207238 G A SNP ENTHD2 ENST00000300714 human ensembl 74_37 -1 known missense c.520 p.R174C 0.000 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS - no_errors ENTHD2 HGNC ENSG00000167302 tier1 - - 101 0 0.00 74 30 28.85 ENTPD2 0 genome.wustl.edu 37 9 139943641 139943641 + RNA SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 9 139943641 139943641 G A SNP ENTPD2 ENST00000460614 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ENTPD2 HGNC ENSG00000054179 tier1 - - 11 0 0.00 9 5 35.71 EP300 0 genome.wustl.edu 37 22 41547895 41547895 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 22 41547895 41547895 G A SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.2876 p.S959N 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 tier1 - - 41 0 0.00 33 13 28.26 EPB41 0 genome.wustl.edu 37 1 29446256 29446256 + RNA SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 29446256 29446256 C A SNP EPB41 ENST00000460378 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors EPB41 HGNC ENSG00000159023 tier1 - - 44 0 0.00 57 4 6.56 EPB41L3 0 genome.wustl.edu 37 18 5445237 5445237 + Missense_Mutation SNP A A G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 18 5445237 5445237 A G SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.388 p.S130P 1.000 pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 51 0 0.00 28 9 24.32 EPHB1 0 genome.wustl.edu 37 3 134825426 134825426 + Silent SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 134825426 134825426 T C SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known silent c.942 p.P314 0.006 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 tier1 - - 49 0 0.00 35 14 28.57 EPHB1 0 genome.wustl.edu 37 3 134851749 134851749 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 134851749 134851749 C T SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known silent c.1155 p.G385 0.997 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 tier1 - - 29 0 0.00 13 17 56.67 ERP27 0 genome.wustl.edu 37 12 15067707 15067707 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 15067707 15067707 G A SNP ERP27 ENST00000266397 human ensembl 74_37 -1 known missense c.784 p.R262C 0.178 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors ERP27 HGNC ENSG00000139055 tier1 - - 37 0 0.00 14 14 50.00 ESPNP 0 genome.wustl.edu 37 1 17026516 17026516 + Splice_Site SNP C C G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 17026516 17026516 C G SNP ESPNP ENST00000492551 human ensembl 74_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors ESPNP HGNC ENSG00000268869 14 0 0.00 15 4 21.05 ETAA1 0 genome.wustl.edu 37 2 67632365 67632365 + Nonsense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 67632365 67632365 C T SNP ETAA1 ENST00000272342 human ensembl 74_37 +1 known nonsense c.2551 p.Q851* 0.144 NULL NULL - no_errors ETAA1 HGNC ENSG00000143971 tier1 - - 47 0 0.00 52 4 7.14 ETNPPL 0 genome.wustl.edu 37 4 109674133 109674133 + Missense_Mutation SNP C C G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 4 109674133 109674133 C G SNP ETNPPL ENST00000296486 human ensembl 74_37 -1 known missense c.536 p.R179T 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors ETNPPL HGNC ENSG00000164089 tier1 - - 53 0 0.00 23 13 36.11 EXTL3 0 genome.wustl.edu 37 8 28574637 28574637 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 8 28574637 28574637 G A SNP EXTL3 ENST00000220562 human ensembl 74_37 +1 known missense c.1061 p.R354K 0.630 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC ENSG00000012232 tier1 - - 13 0 0.00 16 5 23.81 EYS 0 genome.wustl.edu 37 6 65301179 65301179 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 65301179 65301179 C T SNP EYS ENST00000370616 human ensembl 74_37 -1 known silent c.4581 p.Q1527 0.004 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 35 0 0.00 40 12 23.08 EYS 0 genome.wustl.edu 37 6 65301203 65301203 + Missense_Mutation SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 65301203 65301203 T G SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.4557 p.K1519N 0.022 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 34 0 0.00 39 14 26.42 EYS 0 genome.wustl.edu 37 6 66205147 66205147 + Missense_Mutation SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 66205147 66205147 A C SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.157 p.F53V 0.001 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 42 0 0.00 55 5 8.33 F13B 0 genome.wustl.edu 37 1 197008522 197008522 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 197008522 197008522 G T SNP F13B ENST00000367412 human ensembl 74_37 -1 known missense c.1972 p.P658T 0.109 superfamily_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 43 0 0.00 35 2 5.41 F8 0 genome.wustl.edu 37 X 154158885 154158885 + Frame_Shift_Del DEL T T - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 X 154158885 154158885 T - DEL F8 ENST00000360256 human ensembl 74_37 -1 known frame_shift_del c.3180 p.V1061fs 0.119 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 tier1 24 0 0.00 23 17 42.50 FAF2 0 genome.wustl.edu 37 5 175906212 175906212 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 175906212 175906212 G T SNP FAF2 ENST00000261942 human ensembl 74_37 +1 known missense c.87 p.M29I 1.000 superfamily_UBA-like pfam_UBX,superfamily_UBA-like,smart_UAS,pfscan_UBX - no_errors FAF2 HGNC ENSG00000113194 tier1 - - 90 0 0.00 84 5 5.62 FAM129B 0 genome.wustl.edu 37 9 130287350 130287350 + Silent SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 9 130287350 130287350 G T SNP FAM129B ENST00000373312 human ensembl 74_37 -1 known silent c.408 p.G136 0.976 pfscan_Pleckstrin_homology pfscan_Pleckstrin_homology - no_errors FAM129B HGNC ENSG00000136830 tier1 - - 35 0 0.00 42 4 8.70 FAM171B 0 genome.wustl.edu 37 2 187559095 187559095 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 187559095 187559095 G T SNP FAM171B ENST00000304698 human ensembl 74_37 +1 known missense c.195 p.E65D 0.675 NULL pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 tier1 - - 59 0 0.00 47 4 7.84 FAM184A 0 genome.wustl.edu 37 6 119281960 119281960 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 119281960 119281960 G A SNP FAM184A ENST00000368472 human ensembl 74_37 -1 novel silent c.390 p.C130 1.000 NULL NULL - no_errors FAM184A HGNC ENSG00000111879 tier1 - - 24 0 0.00 17 9 34.62 FAM188B 0 genome.wustl.edu 37 7 30915161 30915161 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 7 30915161 30915161 G A SNP FAM188B ENST00000265299 human ensembl 74_37 +1 known missense c.1861 p.D621N 0.994 NULL NULL - no_errors FAM188B HGNC ENSG00000106125 tier1 - - 57 0 0.00 62 19 23.46 FAM209A 0 genome.wustl.edu 37 20 55093338 55093338 + RNA SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 20 55093338 55093338 G A SNP FAM209A ENST00000481560 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM209A HGNC ENSG00000124103 tier1 - - 41 0 0.00 33 13 28.26 FAM47A 0 genome.wustl.edu 37 X 34149725 34149725 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 X 34149725 34149725 C T SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known missense c.671 p.R224H 0.001 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 tier1 - - 99 0 0.00 27 122 81.33 FARP1 0 genome.wustl.edu 37 13 99090029 99090029 + Missense_Mutation SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 13 99090029 99090029 T C SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known missense c.2284 p.F762L 0.021 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 tier1 - - 65 0 0.00 46 4 8.00 FAT3 0 genome.wustl.edu 37 11 92565079 92565079 + Frame_Shift_Del DEL T T - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 92565079 92565079 T - DEL FAT3 ENST00000298047 human ensembl 74_37 +1 known frame_shift_del c.9773 p.F3259fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 28 0 0.00 20 2 9.09 FAT4 0 genome.wustl.edu 37 4 126328257 126328257 + Missense_Mutation SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 4 126328257 126328257 C A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.5530 p.P1844T 0.178 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 tier1 - - 46 0 0.00 20 9 31.03 FBN1 0 genome.wustl.edu 37 15 48779552 48779552 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 15 48779552 48779552 G A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known silent c.3420 p.C1140 0.993 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 tier1 - - 68 0 0.00 49 4 7.55 FBN2 0 genome.wustl.edu 37 5 127654614 127654614 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 127654614 127654614 G A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known silent c.4551 p.C1517 0.907 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 rs144018137 - 42 0 0.00 19 16 45.71 FERD3L 0 genome.wustl.edu 37 7 19184648 19184648 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 7 19184648 19184648 C T SNP FERD3L ENST00000275461 human ensembl 74_37 -1 known missense c.338 p.R113Q 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors FERD3L HGNC ENSG00000146618 tier1 - - 34 0 0.00 39 24 38.10 FIGN 0 genome.wustl.edu 37 2 164466996 164466996 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 164466996 164466996 G T SNP FIGN ENST00000333129 human ensembl 74_37 -1 known missense c.1346 p.A449E 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 tier1 - - 55 0 0.00 35 11 23.91 FLJ45974 0 genome.wustl.edu 37 7 53879353 53879353 + RNA SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 7 53879353 53879353 T G SNP FLJ45974 ENST00000380970 human ensembl 74_37 -1 known rna NULL NULL 0.037 - - - no_errors GS1-179L18.1 Clone_based_vega_gene ENSG00000205628 tier1 - - 45 0 0.00 41 18 30.51 FLRT3 0 genome.wustl.edu 37 20 14306834 14306834 + Missense_Mutation SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 20 14306834 14306834 C A SNP FLRT3 ENST00000341420 human ensembl 74_37 -1 known missense c.1319 p.W440L 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT3 HGNC ENSG00000125848 tier1 - - 21 0 0.00 21 12 36.36 FLVCR2 0 genome.wustl.edu 37 14 76071965 76071965 + Nonsense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 14 76071965 76071965 G T SNP FLVCR2 ENST00000539311 human ensembl 74_37 +1 novel nonsense c.52 p.E18* 0.000 pfscan_MFS_dom pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors FLVCR2 HGNC ENSG00000119686 tier1 - - 38 0 0.00 36 4 10.00 FMO5 0 genome.wustl.edu 37 1 146672739 146672739 + Missense_Mutation SNP A A G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 146672739 146672739 A G SNP FMO5 ENST00000254090 human ensembl 74_37 -1 known missense c.1178 p.F393S 1.000 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC ENSG00000131781 42 0 0.00 23 2 8.00 FMR1NB 0 genome.wustl.edu 37 X 147084798 147084798 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 X 147084798 147084798 G A SNP FMR1NB ENST00000370467 human ensembl 74_37 +1 known missense c.355 p.D119N 0.000 NULL superfamily_P_trefoil - no_errors FMR1NB HGNC ENSG00000176988 tier1 - - 47 0 0.00 30 17 36.17 FNDC1 0 genome.wustl.edu 37 6 159659685 159659685 + Nonsense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 159659685 159659685 C T SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known nonsense c.4168 p.R1390* 0.902 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 tier1 - - 50 0 0.00 17 12 41.38 FRG1 0 genome.wustl.edu 37 4 190874255 190874255 + Missense_Mutation SNP A A T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 4 190874255 190874255 A T SNP FRG1 ENST00000226798 human ensembl 74_37 +1 known missense c.292 p.T98S 1.000 pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FRG1 HGNC ENSG00000109536 tier1 rs75162394 - 162 0 0.00 178 10 5.32 FSIP2 0 genome.wustl.edu 37 2 186665372 186665372 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 186665372 186665372 C T SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.11606 p.S3869L 0.009 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 48 0 0.00 29 10 25.64 FSTL1 0 genome.wustl.edu 37 3 120121725 120121725 + Missense_Mutation SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 120121725 120121725 C A SNP FSTL1 ENST00000295633 human ensembl 74_37 -1 known missense c.735 p.E245D 1.000 NULL pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pfscan_EF_hand_dom - no_errors FSTL1 HGNC ENSG00000163430 tier1 - - 52 0 0.00 42 14 25.00 FSTL4 0 genome.wustl.edu 37 5 132534840 132534840 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 132534840 132534840 C T SNP FSTL4 ENST00000265342 human ensembl 74_37 -1 known missense c.2476 p.E826K 1.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 tier1 - - 52 0 0.00 13 24 64.86 FUBP1 0 genome.wustl.edu 37 1 78429758 78429760 + In_Frame_Del DEL GAA GAA - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 78429758 78429760 GAA - DEL FUBP1 ENST00000436586 human ensembl 74_37 -1 known in_frame_del c.1093_1091 p.L364in_frame_del 1.000:0.996:1.000 smart_KH_dom pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP1 HGNC ENSG00000162613 tier1 24 0 0.00 13 6 31.58 GART 0 genome.wustl.edu 37 21 34882121 34882122 + Frame_Shift_Ins INS - - T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 21 34882121 34882122 - T INS GART ENST00000381815 human ensembl 74_37 -1 known frame_shift_ins c.2421_2420 p.A808fs 0.864:0.844 superfamily_Formyl_transf_N,tigrfam_PurN_trans pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 tier1 45 0 0.00 44 5 10.20 GATAD2A 0 genome.wustl.edu 37 19 19609470 19609470 + Missense_Mutation SNP C C G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 19609470 19609470 C G SNP GATAD2A ENST00000358713 human ensembl 74_37 +1 known missense c.1143 p.N381K 0.998 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD2A HGNC ENSG00000167491 tier1 - - 58 0 0.00 36 7 16.28 GLI3 0 genome.wustl.edu 37 7 42004322 42004322 + Missense_Mutation SNP A A G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 7 42004322 42004322 A G SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.4349 p.F1450S 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 tier1 - - 51 0 0.00 32 14 30.43 GLRB 0 genome.wustl.edu 37 4 158064985 158064985 + Missense_Mutation SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 4 158064985 158064985 T G SNP GLRB ENST00000264428 human ensembl 74_37 +1 known missense c.778 p.F260V 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRB HGNC ENSG00000109738 tier1 - - 34 0 0.00 28 13 31.71 GMCL1 0 genome.wustl.edu 37 2 70096753 70096753 + RNA SNP C C G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 70096753 70096753 C G SNP GMCL1 ENST00000495047 human ensembl 74_37 +1 putative rna NULL NULL 0.004 - - - no_errors GMCL1 HGNC ENSG00000087338 tier1 - - 29 0 0.00 12 6 33.33 GOLGA2P5 0 genome.wustl.edu 37 12 100566933 100566933 + RNA SNP G G C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 100566933 100566933 G C SNP GOLGA2P5 ENST00000397112 human ensembl 74_37 -1 known rna NULL NULL 0.572 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 tier1 - - 29 0 0.00 6 22 78.57 GOLGA6B 0 genome.wustl.edu 37 15 72953682 72953682 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 15 72953682 72953682 C T SNP GOLGA6B ENST00000421285 human ensembl 74_37 +1 known silent c.642 p.H214 0.706 NULL NULL - no_errors GOLGA6B HGNC ENSG00000215186 tier1 - - 227 0 0.00 219 13 5.60 GOLGA6C 0 genome.wustl.edu 37 15 75558543 75558543 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 15 75558543 75558543 G T SNP GOLGA6C ENST00000300576 human ensembl 74_37 +1 known missense c.945 p.E315D 0.993 NULL NULL - no_errors GOLGA6C HGNC ENSG00000167195 tier1 - - 22 0 0.00 26 5 16.13 GOLGA6L3 0 genome.wustl.edu 37 15 83014132 83014132 + Missense_Mutation SNP C C G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 15 83014132 83014132 C G SNP GOLGA6L3 ENST00000557886 human ensembl 74_37 -1 putative missense c.451 p.E151Q 0.991 NULL NULL - no_errors RP13-996F3.4 Clone_based_vega_gene ENSG00000259243 24 0 0.00 35 3 7.89 GPR88 0 genome.wustl.edu 37 1 101004651 101004651 + Silent SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 101004651 101004651 C A SNP GPR88 ENST00000315033 human ensembl 74_37 +1 known silent c.129 p.I43 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR88 HGNC ENSG00000181656 tier1 - - 32 0 0.00 25 5 16.67 GPRASP1 0 genome.wustl.edu 37 X 101909622 101909622 + Missense_Mutation SNP C C G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 X 101909622 101909622 C G SNP GPRASP1 ENST00000361600 human ensembl 74_37 +1 known missense c.781 p.P261A 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 tier1 - - 38 0 0.00 25 18 41.86 GPT 0 genome.wustl.edu 37 8 145730842 145730843 + Frame_Shift_Del DEL CT CT - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 8 145730842 145730843 CT - DEL GPT ENST00000394955 human ensembl 74_37 +1 known frame_shift_del c.709_710 p.V239fs 0.996:0.997 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors GPT HGNC ENSG00000167701 tier1 13 0 0.00 12 4 25.00 GRAMD1A 0 genome.wustl.edu 37 19 35512627 35512627 + Missense_Mutation SNP C C G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 35512627 35512627 C G SNP GRAMD1A ENST00000317991 human ensembl 74_37 +1 known missense c.1612 p.L538V 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1A HGNC ENSG00000089351 tier1 - - 53 0 0.00 22 13 37.14 GRID2IP 0 genome.wustl.edu 37 7 6541699 6541699 + Silent SNP A A G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 7 6541699 6541699 A G SNP GRID2IP ENST00000457091 human ensembl 74_37 -1 putative silent c.3201 p.L1067 0.995 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_FH2_Formin,pfscan_PDZ - no_errors GRID2IP HGNC ENSG00000215045 tier1 - - 45 0 0.00 68 5 6.85 GRM1 0 genome.wustl.edu 37 6 146755848 146755848 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 146755848 146755848 C T SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known silent c.3501 p.S1167 0.929 pfam_Metabotropic_Glu_rcpt_Homer-bd,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3_mtglu_rcpt_5 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 tier1 - - 38 0 0.00 17 10 37.04 GRM7 0 genome.wustl.edu 37 3 7735349 7735349 + RNA SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 7735349 7735349 G A SNP GRM7 ENST00000471242 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors GRM7 HGNC ENSG00000196277 tier1 - - 29 0 0.00 22 8 26.67 GUCY1A2 0 genome.wustl.edu 37 11 106558447 106558447 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 106558447 106558447 G A SNP GUCY1A2 ENST00000282249 human ensembl 74_37 -1 known missense c.2120 p.P707L 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 tier1 - - 46 0 0.00 29 8 21.62 GUCY1A3 0 genome.wustl.edu 37 4 156632138 156632138 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 4 156632138 156632138 C T SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known missense c.821 p.S274L 0.864 pfam_Haem_no_assoc-bd pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 tier1 - - 43 0 0.00 30 16 34.78 HAND2-AS1 0 genome.wustl.edu 37 4 174459693 174459693 + RNA SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 4 174459693 174459693 C T SNP HAND2-AS1 ENST00000502334 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HAND2-AS1 HGNC ENSG00000237125 tier1 - - 12 0 0.00 4 5 55.56 HDGFL1 0 genome.wustl.edu 37 6 22570420 22570420 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 22570420 22570420 G A SNP HDGFL1 ENST00000230012 human ensembl 74_37 +1 known missense c.616 p.A206T 0.043 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors HDGFL1 HGNC ENSG00000112273 tier1 - - 15 0 0.00 9 8 44.44 HECTD4 0 genome.wustl.edu 37 12 112704775 112704775 + Missense_Mutation SNP T T A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 112704775 112704775 T A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.1787 p.N596I 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 32 0 0.00 22 4 15.38 HELB 0 genome.wustl.edu 37 12 66696520 66696520 + Missense_Mutation SNP A A T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 66696520 66696520 A T SNP HELB ENST00000247815 human ensembl 74_37 +1 known missense c.137 p.E46V 1.000 NULL superfamily_P-loop_NTPase - no_errors HELB HGNC ENSG00000127311 tier1 - - 36 0 0.00 24 6 20.00 HERC2 0 genome.wustl.edu 37 15 28493812 28493812 + Missense_Mutation SNP C C G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 15 28493812 28493812 C G SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.3121 p.E1041Q 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 tier1 - - 42 0 0.00 48 9 15.79 HFM1 0 genome.wustl.edu 37 1 91781372 91781372 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 91781372 91781372 G A SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known missense c.3140 p.T1047M 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,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,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 tier1 - - 41 0 0.00 20 14 41.18 HIST1H1C 0 genome.wustl.edu 37 6 26056594 26056594 + Missense_Mutation SNP C C G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 26056594 26056594 C G SNP HIST1H1C ENST00000343677 human ensembl 74_37 -1 known missense c.63 p.K21N 1.000 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1C HGNC ENSG00000187837 tier1 - - 75 0 0.00 84 13 13.40 HIST1H1C 0 genome.wustl.edu 37 6 26056205 26056205 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 26056205 26056205 G T SNP HIST1H1C ENST00000343677 human ensembl 74_37 -1 known missense c.452 p.A151D 0.939 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1C HGNC ENSG00000187837 27 0 0.00 38 3 7.32 HKDC1 0 genome.wustl.edu 37 10 71026453 71026453 + Silent SNP A A G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 10 71026453 71026453 A G SNP HKDC1 ENST00000354624 human ensembl 74_37 +1 known silent c.2694 p.K898 1.000 pfam_Hexokinase_C,prints_Hexokinase pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 50 0 0.00 36 2 5.26 HMMR 0 genome.wustl.edu 37 5 162917425 162917426 + Frame_Shift_Ins INS - - A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 162917425 162917426 - A INS HMMR ENST00000393915 human ensembl 74_37 +1 known frame_shift_ins c.1992_1993 p.Q667fs 0.976:1.000 NULL NULL - no_errors HMMR HGNC ENSG00000072571 tier1 46 0 0.00 42 5 10.64 HOOK1 0 genome.wustl.edu 37 1 60328544 60328544 + Missense_Mutation SNP G G C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 60328544 60328544 G C SNP HOOK1 ENST00000371208 human ensembl 74_37 +1 known missense c.1621 p.E541Q 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin - no_errors HOOK1 HGNC ENSG00000134709 37 0 0.00 35 2 5.41 HPS3 0 genome.wustl.edu 37 3 148876470 148876470 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 148876470 148876470 C T SNP HPS3 ENST00000296051 human ensembl 74_37 +1 known missense c.1709 p.S570F 1.000 pirsf_HPS3 pirsf_HPS3 - no_errors HPS3 HGNC ENSG00000163755 tier1 - - 59 0 0.00 40 17 29.82 HPSE2 0 genome.wustl.edu 37 10 100992245 100992245 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 10 100992245 100992245 G T SNP HPSE2 ENST00000370552 human ensembl 74_37 -1 known missense c.308 p.T103N 1.000 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 tier1 - - 185 0 0.00 80 36 31.03 HRH2 0 genome.wustl.edu 37 5 175111043 175111043 + Missense_Mutation SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 175111043 175111043 A C SNP HRH2 ENST00000377291 human ensembl 74_37 +1 known missense c.807 p.L269F 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt,prints_GPCR_Rhodpsn,prints_5HT6_rcpt - no_errors HRH2 HGNC ENSG00000113749 tier1 - - 36 0 0.00 18 9 33.33 HSD17B4 0 genome.wustl.edu 37 5 118824941 118824941 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 118824941 118824941 G A SNP HSD17B4 ENST00000256216 human ensembl 74_37 +1 known missense c.677 p.C226Y 1.000 prints_Glc/ribitol_DH pfam_MaoC_dom,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 tier1 - - 90 0 0.00 50 10 16.67 HTR1A 0 genome.wustl.edu 37 5 63256866 63256866 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 63256866 63256866 G A SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known silent c.681 p.R227 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 27 0 0.00 15 6 28.57 HUWE1 0 genome.wustl.edu 37 X 53562355 53562355 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 X 53562355 53562355 C T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.12639 p.M4213I 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT 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 - - 41 0 0.00 8 37 82.22 ICAM3 0 genome.wustl.edu 37 19 10445426 10445426 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 10445426 10445426 G A SNP ICAM3 ENST00000160262 human ensembl 74_37 -1 known missense c.970 p.P324S 0.000 smart_Ig_sub pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM3 HGNC ENSG00000076662 tier1 - - 33 0 0.00 21 4 15.38 ICAM5 0 genome.wustl.edu 37 19 10400795 10400795 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 10400795 10400795 C T SNP ICAM5 ENST00000221980 human ensembl 74_37 +1 known missense c.76 p.L26F 0.627 pfam_ICAM_N pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM5 HGNC ENSG00000105376 tier1 - - 19 0 0.00 10 6 37.50 IFT43 0 genome.wustl.edu 37 14 76525022 76525022 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 14 76525022 76525022 G A SNP IFT43 ENST00000556742 human ensembl 74_37 +1 novel missense c.253 p.V85I 0.720 NULL NULL - no_errors IFT43 HGNC ENSG00000119650 tier1 - - 37 0 0.00 28 5 15.15 IFT74 0 genome.wustl.edu 37 9 26984298 26984298 + Frame_Shift_Del DEL A A - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 9 26984298 26984298 A - DEL IFT74 ENST00000380062 human ensembl 74_37 +1 known frame_shift_del c.349 p.K117fs 1.000 NULL NULL - no_errors IFT74 HGNC ENSG00000096872 tier1 54 0 0.00 13 2 13.33 IL5RA 0 genome.wustl.edu 37 3 3137074 3137074 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 3137074 3137074 G T SNP IL5RA ENST00000256452 human ensembl 74_37 -1 known missense c.764 p.S255Y 0.000 superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL5RA HGNC ENSG00000091181 tier1 - - 55 0 0.00 60 4 6.25 IMMP2L 0 genome.wustl.edu 37 7 110303712 110303712 + Silent SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 7 110303712 110303712 T C SNP IMMP2L ENST00000331762 human ensembl 74_37 -1 known silent c.474 p.K158 0.040 superfamily_Peptidase_S24_S26A/B/C pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1 - no_errors IMMP2L HGNC ENSG00000184903 tier1 - - 39 0 0.00 29 9 23.68 INSR 0 genome.wustl.edu 37 19 7125392 7125392 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 7125392 7125392 C T SNP INSR ENST00000302850 human ensembl 74_37 -1 known missense c.3160 p.V1054M 0.999 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 tier1 - - 32 0 0.00 10 8 44.44 IRF5 0 genome.wustl.edu 37 7 128582203 128582203 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 7 128582203 128582203 C T SNP IRF5 ENST00000357234 human ensembl 74_37 +1 known missense c.68 p.A23V 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF5 HGNC ENSG00000128604 tier1 - - 18 0 0.00 16 9 36.00 ITGA7 0 genome.wustl.edu 37 12 56086693 56086693 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 56086693 56086693 G A SNP ITGA7 ENST00000555728 human ensembl 74_37 -1 known missense c.2911 p.R971W 0.475 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 tier1 - - 38 0 0.00 40 4 9.09 ITK 0 genome.wustl.edu 37 5 156649893 156649893 + Missense_Mutation SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 156649893 156649893 A C SNP ITK ENST00000422843 human ensembl 74_37 +1 known missense c.516 p.E172D 0.999 pfscan_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 tier1 - - 46 0 0.00 17 8 32.00 ITPR1 0 genome.wustl.edu 37 3 4744601 4744601 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 4744601 4744601 G A SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.4579 p.V1527M 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 tier1 - - 37 0 0.00 41 18 30.51 KANK4 0 genome.wustl.edu 37 1 62703983 62703983 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 62703983 62703983 G T SNP KANK4 ENST00000371153 human ensembl 74_37 -1 known missense c.2954 p.A985D 1.000 pfscan_Ankyrin_rpt-contain_dom pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 tier1 - - 34 0 0.00 40 4 9.09 KCNA6 0 genome.wustl.edu 37 12 4919747 4919747 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 4919747 4919747 C T SNP KCNA6 ENST00000280684 human ensembl 74_37 +1 known silent c.540 p.S180 0.021 prints_K_chnl,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 tier1 - - 49 0 0.00 17 21 55.26 KDM3B 0 genome.wustl.edu 37 5 137727488 137727488 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 137727488 137727488 G A SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known missense c.2167 p.G723S 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 tier1 - - 27 0 0.00 10 25 71.43 KDM4A 0 genome.wustl.edu 37 1 44137514 44137514 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 44137514 44137514 G A SNP KDM4A ENST00000372396 human ensembl 74_37 +1 known missense c.1702 p.A568T 0.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4A HGNC ENSG00000066135 tier1 - - 28 0 0.00 18 7 26.92 KIAA0825 0 genome.wustl.edu 37 5 93856418 93856418 + Silent SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 93856418 93856418 G T SNP KIAA0825 ENST00000427991 human ensembl 74_37 -1 known silent c.505 p.R169 1.000 NULL NULL - no_errors KIAA0825 HGNC ENSG00000185261 30 0 0.00 28 2 6.67 KIAA1468 0 genome.wustl.edu 37 18 59941278 59941278 + Missense_Mutation SNP T T A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 18 59941278 59941278 T A SNP KIAA1468 ENST00000256858 human ensembl 74_37 +1 known missense c.2928 p.H976Q 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC ENSG00000134444 tier1 - - 66 0 0.00 43 4 8.51 KIAA1549L 0 genome.wustl.edu 37 11 33565593 33565593 + Silent SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 33565593 33565593 C A SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known silent c.1593 p.S531 0.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 tier1 - - 64 0 0.00 37 6 13.64 KIF5C 0 genome.wustl.edu 37 2 149829945 149829945 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 149829945 149829945 G A SNP KIF5C ENST00000435030 human ensembl 74_37 +1 known missense c.1213 p.V405I 0.900 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 tier1 - - 44 0 0.00 38 4 9.52 KPNA1 0 genome.wustl.edu 37 3 122144664 122144664 + RNA SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 122144664 122144664 G T SNP KPNA1 ENST00000470904 human ensembl 74_37 -1 known rna NULL NULL 0.042 - - - no_errors KPNA1 HGNC ENSG00000114030 tier1 - - 41 0 0.00 53 4 7.02 KRT18 0 genome.wustl.edu 37 12 53346032 53346033 + Frame_Shift_Ins INS - - C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 53346032 53346033 - C INS KRT18 ENST00000388835 human ensembl 74_37 +1 known frame_shift_ins c.1078_1079 p.Q361fs 0.961:0.971 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT18 HGNC ENSG00000111057 tier1 24 0 0.00 17 15 46.88 KRTAP9-1 0 genome.wustl.edu 37 17 39346408 39346408 + Frame_Shift_Del DEL C C - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 39346408 39346408 C 0 DEL KRTAP9-1 ENST00000398470 human ensembl 74_37 +1 known frame_shift_del c.270 p.C91fs 0.834 NULL NULL - no_errors KRTAP9-1 HGNC ENSG00000240542 165 0 0.00 225 12 5.06 KRTAP9-1 0 genome.wustl.edu 37 17 39346414 39346415 + Frame_Shift_Del DEL GT GT - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 39346414 39346415 GT 0 DEL KRTAP9-1 ENST00000398470 human ensembl 74_37 +1 known frame_shift_del c.276_277 p.S93fs 0.043:0.064 NULL NULL - no_errors KRTAP9-1 HGNC ENSG00000240542 166 0 0.00 223 12 5.11 KY 0 genome.wustl.edu 37 3 134322603 134322603 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 134322603 134322603 G A SNP KY ENST00000423778 human ensembl 74_37 -1 known missense c.1804 p.H602Y 0.843 NULL pfam_Transglutaminase-like,smart_Transglutaminase-like - no_errors KY HGNC ENSG00000174611 tier1 - - 58 0 0.00 24 10 29.41 L3MBTL4 0 genome.wustl.edu 37 18 6215771 6215771 + Missense_Mutation SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 18 6215771 6215771 A C SNP L3MBTL4 ENST00000284898 human ensembl 74_37 -1 known missense c.848 p.V283G 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 tier1 - - 55 0 0.00 36 23 38.98 LACRT 0 genome.wustl.edu 37 12 55028588 55028588 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 55028588 55028588 G A SNP LACRT ENST00000257867 human ensembl 74_37 -1 known missense c.38 p.A13V 0.112 NULL NULL - no_errors LACRT HGNC ENSG00000135413 tier1 - - 85 0 0.00 68 4 5.56 LAMA1 0 genome.wustl.edu 37 18 6950864 6950864 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 18 6950864 6950864 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.8314 p.R2772C 0.542 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 41 0 0.00 10 10 50.00 LAMA5 0 genome.wustl.edu 37 20 60892800 60892800 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 20 60892800 60892800 G T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.7274 p.T2425N 0.015 pfam_Laminin_I pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 - - 66 0 0.00 75 4 5.06 LARP7 0 genome.wustl.edu 37 4 113567590 113567590 + Missense_Mutation SNP A A G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 4 113567590 113567590 A G SNP LARP7 ENST00000324052 human ensembl 74_37 +1 known missense c.286 p.S96G 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 tier1 - - 76 0 0.00 46 24 34.29 LEKR1 0 genome.wustl.edu 37 3 156544525 156544525 + RNA SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 156544525 156544525 T C SNP LEKR1 ENST00000485017 human ensembl 74_37 +1 putative rna NULL NULL 0.010 - - - no_errors LEKR1 HGNC ENSG00000197980 tier1 - - 70 0 0.00 34 4 10.53 LHX1 0 genome.wustl.edu 37 17 35300239 35300239 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 35300239 35300239 C T SNP LHX1 ENST00000254457 human ensembl 74_37 +1 known silent c.1032 p.T344 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX1 HGNC ENSG00000132130 tier1 - - 12 0 0.00 12 5 29.41 LINC00687 0 genome.wustl.edu 37 20 11790835 11790835 + RNA SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 20 11790835 11790835 G A SNP LINC00687 ENST00000427835 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00687 HGNC ENSG00000228422 tier1 - - 47 0 0.00 28 14 33.33 LINC00854 0 genome.wustl.edu 37 17 41376426 41376426 + RNA SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 41376426 41376426 C T SNP LINC00854 ENST00000427995 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00854 HGNC ENSG00000236383 tier1 - - 77 0 0.00 78 5 6.02 LINC00905 0 genome.wustl.edu 37 19 16146784 16146784 + RNA SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 16146784 16146784 G A SNP LINC00905 ENST00000588117 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00905 HGNC ENSG00000167459 tier1 - - 24 0 0.00 8 8 50.00 LOC101927093 0 genome.wustl.edu 37 17 28903278 28903278 + RNA SNP A A T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 28903278 28903278 A T SNP LOC101927093 ENST00000436477 human ensembl 74_37 -1 known rna NULL NULL 0.342 - - - no_errors AC006050.2 Clone_based_vega_gene ENSG00000231421 tier1 - - 37 0 0.00 51 7 12.07 LOC440040 0 genome.wustl.edu 37 11 49831435 49831435 + RNA SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 49831435 49831435 A C SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 0.989 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 tier1 - - 214 0 0.00 177 44 19.64 LPHN2 0 genome.wustl.edu 37 1 82456740 82456740 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 82456740 82456740 G T SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.4336 p.D1446Y 1.000 pfam_GPCR_2_latrophilin_rcpt_C pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 tier1 - - 30 0 0.00 14 23 62.16 LRFN5 0 genome.wustl.edu 37 14 42357119 42357119 + Missense_Mutation SNP G G C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 14 42357119 42357119 G C SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.1291 p.A431P 0.998 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 tier1 - - 48 0 0.00 32 7 17.95 LRP1B 0 genome.wustl.edu 37 2 141272290 141272290 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 141272290 141272290 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.8201 p.S2734F 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 43 0 0.00 33 13 28.26 LRP1B 0 genome.wustl.edu 37 2 141747211 141747211 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 141747211 141747211 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.2660 p.P887L 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 51 0 0.00 40 12 23.08 LRRC1 0 genome.wustl.edu 37 6 53747766 53747766 + Silent SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 53747766 53747766 T C SNP LRRC1 ENST00000370888 human ensembl 74_37 +1 known silent c.438 p.N146 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC1 HGNC ENSG00000137269 tier1 - - 47 0 0.00 43 13 23.21 LRRK2 0 genome.wustl.edu 37 12 40646757 40646757 + Silent SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 40646757 40646757 T G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known silent c.1227 p.S409 0.974 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 47 0 0.00 30 5 14.29 MAML1 0 genome.wustl.edu 37 5 179192383 179192383 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 179192383 179192383 C T SNP MAML1 ENST00000292599 human ensembl 74_37 +1 known silent c.372 p.G124 0.001 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC ENSG00000161021 47 0 0.00 31 2 6.06 MANSC4 0 genome.wustl.edu 37 12 27916116 27916116 + Missense_Mutation SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 27916116 27916116 T C SNP MANSC4 ENST00000381273 human ensembl 74_37 -1 novel missense c.578 p.K193R 0.000 NULL pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC - no_errors MANSC4 HGNC ENSG00000205693 tier1 - - 74 0 0.00 13 25 65.79 MAP4K5 0 genome.wustl.edu 37 14 50941819 50941819 + Missense_Mutation SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 14 50941819 50941819 T G SNP MAP4K5 ENST00000013125 human ensembl 74_37 -1 known missense c.518 p.K173T 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_Citron,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,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K5 HGNC ENSG00000012983 tier1 - - 63 0 0.00 44 10 18.52 MARCH6 0 genome.wustl.edu 37 5 10405769 10405769 + Silent SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 10405769 10405769 C A SNP MARCH6 ENST00000274140 human ensembl 74_37 +1 known silent c.1432 p.R478 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 19 0 0.00 19 2 9.52 MARK2 0 genome.wustl.edu 37 11 63670599 63670599 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 63670599 63670599 G A SNP MARK2 ENST00000402010 human ensembl 74_37 +1 known missense c.1483 p.G495S 0.984 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 tier1 - - 48 0 0.00 30 7 18.92 MAST1 0 genome.wustl.edu 37 19 12984812 12984812 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 12984812 12984812 G A SNP MAST1 ENST00000251472 human ensembl 74_37 +1 known missense c.3841 p.A1281T 0.263 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST1 HGNC ENSG00000105613 tier1 - - 66 0 0.00 36 17 32.08 MASTL 0 genome.wustl.edu 37 10 27459837 27459837 + Missense_Mutation SNP G G C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 10 27459837 27459837 G C SNP MASTL ENST00000375940 human ensembl 74_37 +1 known missense c.1949 p.R650T 0.990 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MASTL HGNC ENSG00000120539 tier1 - - 43 0 0.00 34 8 19.05 MBIP 0 genome.wustl.edu 37 14 36770037 36770037 + RNA DEL A A - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 14 36770037 36770037 A - DEL MBIP ENST00000604154 human ensembl 74_37 -1 putative rna NULL NULL 0.241 - - - no_errors MBIP HGNC ENSG00000151332 tier1 64 0 0.00 70 12 14.63 MCM9 0 genome.wustl.edu 37 6 119215407 119215407 + RNA SNP T T A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 119215407 119215407 T A SNP MCM9 ENST00000368478 human ensembl 74_37 -1 known rna NULL NULL 0.991 - - - no_errors MCM9 HGNC ENSG00000111877 tier1 - - 12 0 0.00 3 7 70.00 MCPH1 0 genome.wustl.edu 37 8 6293568 6293568 + Splice_Site SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 8 6293568 6293568 G T SNP MCPH1 ENST00000344683 human ensembl 74_37 +1 known splice_site c.322-1 e5-1 0.980 - - - no_errors MCPH1 HGNC ENSG00000147316 tier1 - - 53 0 0.00 68 5 6.85 MED12 0 genome.wustl.edu 37 X 70342374 70342374 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 X 70342374 70342374 G T SNP MED12 ENST00000333646 human ensembl 74_37 +1 known missense c.1265 p.R422L 1.000 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 24 0 0.00 47 3 6.00 MED23 0 genome.wustl.edu 37 6 131946009 131946009 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 131946009 131946009 G T SNP MED23 ENST00000368058 human ensembl 74_37 -1 known missense c.280 p.P94T 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 tier1 - - 45 0 0.00 25 4 13.79 MEG3 0 genome.wustl.edu 37 14 101325104 101325104 + RNA SNP C C G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 14 101325104 101325104 C G SNP MEG3 ENST00000398460 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MEG3 HGNC ENSG00000214548 tier1 - - 72 0 0.00 59 15 20.27 METTL13 0 genome.wustl.edu 37 1 171753185 171753185 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 171753185 171753185 C T SNP METTL13 ENST00000361735 human ensembl 74_37 +1 known silent c.459 p.G153 1.000 pfam_Methyltransf_11 pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC ENSG00000010165 tier1 - - 57 0 0.00 20 6 23.08 MKRN3 0 genome.wustl.edu 37 15 23812089 23812089 + Missense_Mutation SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 15 23812089 23812089 T G SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.1160 p.L387R 0.996 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 tier1 - - 27 0 0.00 24 10 29.41 MLF2 0 genome.wustl.edu 37 12 6858118 6858118 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 6858118 6858118 C T SNP MLF2 ENST00000203630 human ensembl 74_37 -1 known missense c.590 p.R197Q 1.000 pfam_Myeloid_leukemia_factor pfam_Myeloid_leukemia_factor - no_errors MLF2 HGNC ENSG00000089693 tier1 - - 100 0 0.00 43 20 31.75 MROH6 0 genome.wustl.edu 37 8 144652708 144652708 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 8 144652708 144652708 C T SNP MROH6 ENST00000398882 human ensembl 74_37 -1 known silent c.840 p.P280 0.000 NULL superfamily_ARM-type_fold - no_errors MROH6 HGNC ENSG00000204839 tier1 rs201505046 - 25 0 0.00 34 14 29.17 MRPS5 0 genome.wustl.edu 37 2 95770416 95770416 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 95770416 95770416 C T SNP MRPS5 ENST00000272418 human ensembl 74_37 -1 known silent c.732 p.L244 1.000 pfam_Ribosomal_S5_N,pfscan_Ribosomal_S5_N pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N - no_errors MRPS5 HGNC ENSG00000144029 tier1 - - 43 0 0.00 38 14 26.92 MT-CO1 0 genome.wustl.edu 37 MT 6038 6038 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 MT 6038 6038 C T SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known silent c.135 p.G45 NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 249 0 0.00 5 67 91.78 MT-CO1 0 genome.wustl.edu 37 MT 6347 6347 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 MT 6347 6347 C T SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known silent c.444 p.F148 NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 72 0 0.00 20 2 9.09 MT-ND5 0 genome.wustl.edu 37 MT 13643 13643 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 MT 13643 13643 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.1307 p.R436H NULL pfam_NADH_DH_su5_C,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 43 0 0.00 0 10 100.00 MT-RNR1 0 genome.wustl.edu 37 MT 1131 1131 + RNA SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 MT 1131 1131 C T SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 - - 54 0 0.00 16 2 11.11 MTIF2 0 genome.wustl.edu 37 2 55471307 55471307 + Missense_Mutation SNP C C G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 55471307 55471307 C G SNP MTIF2 ENST00000263629 human ensembl 74_37 -1 known missense c.1169 p.G390A 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 tier1 - - 104 0 0.00 40 45 52.94 MUC16 0 genome.wustl.edu 37 19 9066597 9066597 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 9066597 9066597 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.20849 p.T6950N 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 67 0 0.00 27 14 34.15 MUC16 0 genome.wustl.edu 37 19 9076366 9076366 + Missense_Mutation SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 9076366 9076366 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.11080 p.S3694R 0.026 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 56 0 0.00 26 11 29.73 MUC16 0 genome.wustl.edu 37 19 9082408 9082408 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 9082408 9082408 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.9407 p.R3136K 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 87 0 0.00 41 15 26.79 MUC19 0 genome.wustl.edu 37 12 40821797 40821797 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 40821797 40821797 G A SNP MUC19 ENST00000454784 human ensembl 74_37 +1 novel silent c.546 p.E182 0.999 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 74 0 0.00 60 24 28.57 MUC2 0 genome.wustl.edu 37 11 1085959 1085959 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 1085959 1085959 C T SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known silent c.2799 p.D933 0.018 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 tier1 - - 32 0 0.00 12 7 36.84 MUC6 0 genome.wustl.edu 37 11 1024951 1024951 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 1024951 1024951 C T SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.3118 p.V1040M 0.516 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 - - 51 0 0.00 51 4 7.27 MYBPC1 0 genome.wustl.edu 37 12 102041837 102041837 + Missense_Mutation SNP G G C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 102041837 102041837 G C SNP MYBPC1 ENST00000361466 human ensembl 74_37 +1 known missense c.1105 p.V369L 1.000 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC1 HGNC ENSG00000196091 tier1 - - 44 0 0.00 53 4 7.02 MYC 0 genome.wustl.edu 37 8 128751156 128751156 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 8 128751156 128751156 C T SNP MYC ENST00000377970 human ensembl 74_37 +1 known silent c.693 p.F231 1.000 pfam_Tscrpt_reg_Myc_N pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYC HGNC ENSG00000136997 tier1 - - 29 0 0.00 15 16 51.61 MYH1 0 genome.wustl.edu 37 17 10398269 10398269 + Missense_Mutation SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 10398269 10398269 C A SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.5445 p.Q1815H 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 tier1 - - 95 0 0.00 43 20 31.75 MYH13 0 genome.wustl.edu 37 17 10204947 10204947 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 10204947 10204947 G T SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.5741 p.A1914E 0.999 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 tier1 - - 73 0 0.00 12 29 69.05 MYO1B 0 genome.wustl.edu 37 2 192160886 192160886 + Missense_Mutation SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 192160886 192160886 C A SNP MYO1B ENST00000304164 human ensembl 74_37 +1 known missense c.185 p.P62H 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1B HGNC ENSG00000128641 tier1 - - 75 0 0.00 71 4 5.33 MYO1D 0 genome.wustl.edu 37 17 31091907 31091907 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 31091907 31091907 C T SNP MYO1D ENST00000318217 human ensembl 74_37 -1 known missense c.1024 p.A342T 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 tier1 - - 53 0 0.00 43 21 32.81 MYOF 0 genome.wustl.edu 37 10 95163809 95163809 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 10 95163809 95163809 G A SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.814 p.R272W 0.994 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 tier1 - - 45 0 0.00 28 8 22.22 NAALADL2 0 genome.wustl.edu 37 3 175520935 175520935 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 175520935 175520935 G T SNP NAALADL2 ENST00000454872 human ensembl 74_37 +1 known missense c.2332 p.V778F 1.000 superfamily_TFR-like_dimer_dom superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 52 0 0.00 35 2 5.41 NBEA 0 genome.wustl.edu 37 13 36245077 36245077 + Silent SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 13 36245077 36245077 T C SNP NBEA ENST00000310336 human ensembl 74_37 +1 known silent c.8790 p.A2930 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 36 0 0.00 3 4 57.14 NBEAL1 0 genome.wustl.edu 37 2 204048019 204048019 + Missense_Mutation SNP C C G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 204048019 204048019 C G SNP NBEAL1 ENST00000449802 human ensembl 74_37 +1 known missense c.6526 p.L2176V 0.577 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 tier1 - - 55 0 0.00 28 28 50.00 NDST3 0 genome.wustl.edu 37 4 119026255 119026255 + Missense_Mutation SNP A A G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 4 119026255 119026255 A G SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known missense c.1064 p.H355R 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 tier1 - - 65 0 0.00 48 14 22.58 NEB 0 genome.wustl.edu 37 2 152492780 152492780 + Silent SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 152492780 152492780 G T SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.9063 p.P3021 0.571 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 54 0 0.00 50 4 7.41 NELL2 0 genome.wustl.edu 37 12 45269600 45269600 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 45269600 45269600 G T SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known missense c.203 p.A68E 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 tier1 - - 80 0 0.00 30 37 55.22 NEMF 0 genome.wustl.edu 37 14 50267199 50267199 + Missense_Mutation SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 14 50267199 50267199 C A SNP NEMF ENST00000298310 human ensembl 74_37 -1 known missense c.2311 p.G771W 0.958 NULL pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom - no_errors NEMF HGNC ENSG00000165525 tier1 - - 70 0 0.00 48 4 7.69 NEO1 0 genome.wustl.edu 37 15 73547143 73547143 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 15 73547143 73547143 G T SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known missense c.2065 p.G689W 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NEO1 HGNC ENSG00000067141 tier1 - - 46 0 0.00 45 4 8.16 NFATC1 0 genome.wustl.edu 37 18 77170490 77170490 + Frame_Shift_Del DEL T T - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 18 77170490 77170490 T - DEL NFATC1 ENST00000427363 human ensembl 74_37 +1 known frame_shift_del c.215 p.Q73fs 0.993 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 tier1 50 0 0.00 15 2 11.76 NME9 0 genome.wustl.edu 37 3 137981408 137981408 + Missense_Mutation SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 137981408 137981408 T C SNP NME9 ENST00000317876 human ensembl 74_37 -1 known missense c.766 p.R256G 0.001 NULL pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME9 HGNC ENSG00000181322 tier1 - - 61 0 0.00 20 24 54.55 NOD2 0 genome.wustl.edu 37 16 50745331 50745331 + Frame_Shift_Del DEL G G - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 16 50745331 50745331 G - DEL NOD2 ENST00000300589 human ensembl 74_37 +1 known frame_shift_del c.1509 p.S506fs 0.001 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 tier1 16 0 0.00 8 3 27.27 NOP56 0 genome.wustl.edu 37 20 2638078 2638078 + RNA SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 20 2638078 2638078 G T SNP NOP56 ENST00000466447 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NOP56 HGNC ENSG00000101361 tier1 - - 36 0 0.00 44 4 8.33 NOVA1 0 genome.wustl.edu 37 14 26917799 26917799 + Missense_Mutation SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 14 26917799 26917799 A C SNP NOVA1 ENST00000539517 human ensembl 74_37 -1 known missense c.890 p.V297G 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 tier1 - - 61 0 0.00 44 15 25.42 NPAP1 0 genome.wustl.edu 37 15 24921692 24921692 + Missense_Mutation SNP G G C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 15 24921692 24921692 G C SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.678 p.Q226H 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 tier1 - - 35 0 0.00 31 10 24.39 NPBWR2 0 genome.wustl.edu 37 20 62737688 62737688 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 20 62737688 62737688 G A SNP NPBWR2 ENST00000369768 human ensembl 74_37 -1 known missense c.497 p.A166V 0.801 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors NPBWR2 HGNC ENSG00000125522 tier1 - - 42 0 0.00 28 22 44.00 NTSR2 0 genome.wustl.edu 37 2 11798797 11798797 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 11798797 11798797 G T SNP NTSR2 ENST00000306928 human ensembl 74_37 -1 known missense c.1041 p.F347L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NT2_rcpt,prints_NT_rcpt,prints_GPCR_Rhodpsn - no_errors NTSR2 HGNC ENSG00000169006 27 0 0.00 25 2 7.14 NUS1 0 genome.wustl.edu 37 6 118024775 118024775 + Silent SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 118024775 118024775 T C SNP NUS1 ENST00000368494 human ensembl 74_37 +1 known silent c.699 p.N233 0.979 pfam_UPP_synth-like,superfamily_UPP_synth-like pfam_UPP_synth-like,superfamily_UPP_synth-like - no_errors NUS1 HGNC ENSG00000153989 tier1 - - 27 0 0.00 12 3 20.00 OGFOD2 0 genome.wustl.edu 37 12 123463398 123463398 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 123463398 123463398 C T SNP OGFOD2 ENST00000228922 human ensembl 74_37 +1 known silent c.630 p.G210 0.001 smart_Pro_4_hyd_alph smart_Pro_4_hyd_alph - no_errors OGFOD2 HGNC ENSG00000111325 tier1 - - 95 0 0.00 84 39 31.71 OPN1LW 0 genome.wustl.edu 37 X 153421840 153421840 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 X 153421840 153421840 G A SNP OPN1LW ENST00000369951 human ensembl 74_37 +1 known silent c.816 p.V272 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1LW HGNC ENSG00000102076 tier1 - - 75 0 0.00 46 43 48.31 OR13C9 0 genome.wustl.edu 37 9 107379982 107379982 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 9 107379982 107379982 G A SNP OR13C9 ENST00000259362 human ensembl 74_37 -1 known silent c.504 p.F168 0.982 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C9 HGNC ENSG00000136839 tier1 - - 64 0 0.00 20 5 20.00 OR14A2 0 genome.wustl.edu 37 1 247887156 247887156 + Missense_Mutation SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 247887156 247887156 A C SNP OR14A2 ENST00000366485 human ensembl 74_37 -1 known missense c.190 p.L64V 0.215 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 OR14A2 HGNC ENSG00000241128 tier1 - - 80 0 0.00 35 31 46.97 OR2T2 0 genome.wustl.edu 37 1 248616437 248616437 + Missense_Mutation SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 248616437 248616437 C A SNP OR2T2 ENST00000342927 human ensembl 74_37 +1 known missense c.339 p.F113L 0.000 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 OR2T2 HGNC ENSG00000196240 tier1 - - 127 0 0.00 159 17 9.66 OR2T34 0 genome.wustl.edu 37 1 248737812 248737812 + Frame_Shift_Del DEL C C - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 248737812 248737812 C - DEL OR2T34 ENST00000328782 human ensembl 74_37 -1 known frame_shift_del c.247 p.V83fs 0.035 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 OR2T34 HGNC ENSG00000183310 tier1 65 0 0.00 62 9 12.68 OR56A1 0 genome.wustl.edu 37 11 6048564 6048564 + Missense_Mutation SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 6048564 6048564 A C SNP OR56A1 ENST00000316650 human ensembl 74_37 -1 known missense c.371 p.V124G 0.856 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 OR56A1 HGNC ENSG00000180934 tier1 - - 67 0 0.00 42 16 27.59 OR5D13 0 genome.wustl.edu 37 11 55541046 55541046 + Missense_Mutation SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 55541046 55541046 T G SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known missense c.133 p.L45V 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 OR5D13 HGNC ENSG00000198877 tier1 - - 59 0 0.00 13 22 62.86 OR5D16 0 genome.wustl.edu 37 11 55606456 55606456 + Missense_Mutation SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 55606456 55606456 T G SNP OR5D16 ENST00000378396 human ensembl 74_37 +1 known missense c.229 p.S77A 0.727 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 OR5D16 HGNC ENSG00000205029 tier1 - - 80 0 0.00 32 39 54.93 OR5T2 0 genome.wustl.edu 37 11 55999758 55999758 + Missense_Mutation SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 55999758 55999758 T G SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known missense c.904 p.S302R 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC ENSG00000181718 tier1 - - 46 0 0.00 40 15 27.27 OR5W2 0 genome.wustl.edu 37 11 55681968 55681968 + Missense_Mutation SNP A A G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 55681968 55681968 A G SNP OR5W2 ENST00000344514 human ensembl 74_37 -1 known missense c.91 p.F31L 0.008 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5W2 HGNC ENSG00000187612 tier1 - - 41 0 0.00 20 28 58.33 OSBPL8 0 genome.wustl.edu 37 12 76786438 76786438 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 76786438 76786438 G A SNP OSBPL8 ENST00000261183 human ensembl 74_37 -1 known silent c.852 p.S284 0.999 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL8 HGNC ENSG00000091039 tier1 - - 68 0 0.00 38 4 9.52 OSBPL9 0 genome.wustl.edu 37 1 52211208 52211208 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 52211208 52211208 G T SNP OSBPL9 ENST00000371710 human ensembl 74_37 +1 known missense c.373 p.G125C 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL9 HGNC ENSG00000117859 tier1 - - 76 0 0.00 42 4 8.51 OSTF1 0 genome.wustl.edu 37 9 77748217 77748217 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 9 77748217 77748217 G T SNP OSTF1 ENST00000346234 human ensembl 74_37 +1 known missense c.258 p.L86F 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Ankyrin_rpt - no_errors OSTF1 HGNC ENSG00000134996 tier1 - - 92 0 0.00 57 4 6.56 PAPSS2 0 genome.wustl.edu 37 10 89419750 89419750 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 10 89419750 89419750 C T SNP PAPSS2 ENST00000456849 human ensembl 74_37 +1 known silent c.12 p.I4 0.965 NULL pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,superfamily_P-loop_NTPase,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS2 HGNC ENSG00000198682 tier1 - - 38 0 0.00 18 14 43.75 PARP9 0 genome.wustl.edu 37 3 122259595 122259595 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 122259595 122259595 C T SNP PARP9 ENST00000360356 human ensembl 74_37 -1 known missense c.1594 p.A532T 0.001 NULL pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP9 HGNC ENSG00000138496 22 0 0.00 29 2 6.45 PCCA 0 genome.wustl.edu 37 13 100861648 100861648 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 13 100861648 100861648 G A SNP PCCA ENST00000376285 human ensembl 74_37 +1 known silent c.531 p.K177 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_RimK-type,pfscan_Biotin_carboxylation_dom pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 tier1 - - 65 0 0.00 23 18 43.90 PCDH18 0 genome.wustl.edu 37 4 138449720 138449720 + Missense_Mutation SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 4 138449720 138449720 A C SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.2652 p.D884E 0.996 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 tier1 - - 66 0 0.00 44 7 13.73 PCDH9 0 genome.wustl.edu 37 13 66879019 66879019 + Missense_Mutation SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 13 66879019 66879019 A C SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.3482 p.F1161C 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 - - 54 0 0.00 24 12 33.33 PCDHGA12 0 genome.wustl.edu 37 5 140812168 140812168 + Silent SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 140812168 140812168 G T SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known silent c.1842 p.P614 0.019 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 tier1 - - 149 0 0.00 120 35 22.58 PCDHGB2 0 genome.wustl.edu 37 5 140740924 140740924 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 140740924 140740924 G A SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known missense c.1222 p.G408S 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 tier1 - - 24 0 0.00 7 7 50.00 PCDHGB2 0 genome.wustl.edu 37 5 140741818 140741818 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 140741818 140741818 G T SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known missense c.2116 p.A706S 0.025 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 49 0 0.00 38 3 7.32 PCLO 0 genome.wustl.edu 37 7 82544559 82544559 + Frame_Shift_Del DEL T T - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 7 82544559 82544559 T - DEL PCLO ENST00000333891 human ensembl 74_37 -1 known frame_shift_del c.12743 p.N4248fs 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 67 0 0.00 25 15 37.50 PDE1C 0 genome.wustl.edu 37 7 32110146 32110146 + RNA SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 7 32110146 32110146 G A SNP PDE1C ENST00000495221 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors PDE1C HGNC ENSG00000154678 tier1 - - 15 0 0.00 9 7 43.75 PDE2A 0 genome.wustl.edu 37 11 72292512 72292512 + Missense_Mutation SNP A A T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 72292512 72292512 A T SNP PDE2A ENST00000334456 human ensembl 74_37 -1 known missense c.1934 p.M645K 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 tier1 - - 67 0 0.00 54 4 6.90 PDE6A 0 genome.wustl.edu 37 5 149323840 149323840 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 149323840 149323840 C T SNP PDE6A ENST00000255266 human ensembl 74_37 -1 known missense c.397 p.V133I 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 tier1 - - 34 0 0.00 13 4 23.53 PDE7A 0 genome.wustl.edu 37 8 66639418 66639418 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 8 66639418 66639418 G A SNP PDE7A ENST00000401827 human ensembl 74_37 -1 known missense c.815 p.A272V 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE7A HGNC ENSG00000205268 40 0 0.00 30 3 9.09 PDILT 0 genome.wustl.edu 37 16 20371903 20371903 + Missense_Mutation SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 16 20371903 20371903 T C SNP PDILT ENST00000302451 human ensembl 74_37 -1 known missense c.1493 p.E498G 0.016 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC ENSG00000169340 tier1 - - 55 0 0.00 30 4 11.76 PEX5L 0 genome.wustl.edu 37 3 179605521 179605521 + Missense_Mutation SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 179605521 179605521 C A SNP PEX5L ENST00000467460 human ensembl 74_37 -1 known missense c.250 p.D84Y 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 tier1 - - 62 0 0.00 38 14 26.92 PGR 0 genome.wustl.edu 37 11 100962609 100962610 + Splice_Site INS - - A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 100962609 100962610 - A INS PGR ENST00000325455 human ensembl 74_37 -1 known splice_site_ins c.1790-3_1790-2 e3-2 1.000:0.845 - - - no_errors PGR HGNC ENSG00000082175 tier1 26 0 0.00 20 8 28.57 PGR 0 genome.wustl.edu 37 11 100996845 100996845 + Nonsense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 100996845 100996845 G T SNP PGR ENST00000325455 human ensembl 74_37 -1 known nonsense c.1682 p.S561* 0.973 pfam_Progest_rcpt,prints_Progest_rcpt pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 tier1 - - 52 0 0.00 34 38 52.78 PIPSL 0 genome.wustl.edu 37 10 95718361 95718361 + RNA DEL T T - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 10 95718361 95718361 T 0 DEL PIPSL ENST00000480546 human ensembl 74_37 -1 putative rna NULL NULL 0.041 - - - no_errors PIPSL HGNC ENSG00000180764 10 0 0.00 4 2 33.33 PLCL1 0 genome.wustl.edu 37 2 198949685 198949685 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 198949685 198949685 G T SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.1444 p.A482S 0.993 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 pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 tier1 - - 18 0 0.00 12 8 40.00 PLEC 0 genome.wustl.edu 37 8 144995483 144995483 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 8 144995483 144995483 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.8917 p.D2973N 1.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 tier1 rs200814155 - 52 0 0.00 39 24 38.10 PLIN1 0 genome.wustl.edu 37 15 90208853 90208853 + Silent SNP C C G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 15 90208853 90208853 C G SNP PLIN1 ENST00000300055 human ensembl 74_37 -1 known silent c.1530 p.L510 1.000 NULL pfam_Perilipin,pirsf_Perilipin - no_errors PLIN1 HGNC ENSG00000166819 tier1 - - 9 0 0.00 6 13 68.42 PLXNB1 0 genome.wustl.edu 37 3 48465462 48465462 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 48465462 48465462 G A SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.559 p.R187W 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,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 PLXNB1 HGNC ENSG00000164050 tier1 - - 27 0 0.00 7 13 65.00 PMEPA1 0 genome.wustl.edu 37 20 56227338 56227338 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 20 56227338 56227338 G A SNP PMEPA1 ENST00000341744 human ensembl 74_37 -1 known missense c.635 p.S212L 1.000 NULL NULL - no_errors PMEPA1 HGNC ENSG00000124225 tier1 - - 39 0 0.00 31 14 31.11 PNPT1 0 genome.wustl.edu 37 2 55912086 55912086 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 55912086 55912086 C T SNP PNPT1 ENST00000415374 human ensembl 74_37 -1 known missense c.395 p.R132Q 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_PNPase,tigrfam_PNPase pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase - no_errors PNPT1 HGNC ENSG00000138035 tier1 - - 29 0 0.00 11 10 47.62 POLR3A 0 genome.wustl.edu 37 10 79782097 79782097 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 10 79782097 79782097 G T SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.691 p.P231T 1.000 pfam_RNA_pol_Rpb1_1 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 59 0 0.00 29 3 9.38 POSTN 0 genome.wustl.edu 37 13 38143326 38143326 + RNA DEL T T - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 13 38143326 38143326 T - DEL POSTN ENST00000497145 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors POSTN HGNC ENSG00000133110 tier1 13 0 0.00 3 9 75.00 PPP1R10 0 genome.wustl.edu 37 6 30570393 30570393 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 30570393 30570393 G A SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known missense c.2033 p.P678L 0.993 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 tier1 - - 55 0 0.00 48 18 26.87 PPP1R2P1 0 genome.wustl.edu 37 6 32847624 32847624 + RNA SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 32847624 32847624 G A SNP PPP1R2P1 ENST00000420261 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors PPP1R2P1 HGNC ENSG00000234515 tier1 - - 78 0 0.00 35 59 62.77 PPP2R3A 0 genome.wustl.edu 37 3 135721110 135721110 + Missense_Mutation SNP A A G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 135721110 135721110 A G SNP PPP2R3A ENST00000264977 human ensembl 74_37 +1 known missense c.770 p.K257R 1.000 NULL pfscan_EF_hand_dom - no_errors PPP2R3A HGNC ENSG00000073711 tier1 - - 21 0 0.00 13 3 18.75 PRCP 0 genome.wustl.edu 37 11 82561066 82561066 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 82561066 82561066 G T SNP PRCP ENST00000393399 human ensembl 74_37 -1 known missense c.704 p.P235H 0.998 pfam_Peptidase_S28 pfam_Peptidase_S28 - no_errors PRCP HGNC ENSG00000137509 tier1 - - 70 0 0.00 73 5 6.33 PRIM2 0 genome.wustl.edu 37 6 57512588 57512588 + RNA SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 57512588 57512588 A C SNP PRIM2 ENST00000389488 human ensembl 74_37 +1 known rna NULL NULL 0.052 - - - no_errors PRIM2 HGNC ENSG00000146143 tier1 - - 104 0 0.00 74 11 12.94 PRKAA1 0 genome.wustl.edu 37 5 40764855 40764855 + Missense_Mutation SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 40764855 40764855 T G SNP PRKAA1 ENST00000354209 human ensembl 74_37 -1 known missense c.1352 p.K451T 1.000 superfamily_KA1/Ssp2_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA1 HGNC ENSG00000132356 tier1 - - 61 0 0.00 33 15 31.25 PRKACA 0 genome.wustl.edu 37 19 14203873 14203874 + RNA INS - - A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 14203873 14203874 - A INS PRKACA ENST00000350356 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.004 - - - no_errors PRKACA HGNC ENSG00000072062 tier1 71 0 0.00 39 15 27.78 PRKCG 0 genome.wustl.edu 37 19 54409689 54409689 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 54409689 54409689 C T SNP PRKCG ENST00000540413 human ensembl 74_37 +1 known missense c.1883 p.P628L 0.703 superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCG HGNC ENSG00000126583 tier1 - - 32 0 0.00 15 10 40.00 PRKD1 0 genome.wustl.edu 37 14 30100001 30100001 + Missense_Mutation SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 14 30100001 30100001 A C SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known missense c.1619 p.L540R 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 tier1 - - 57 0 0.00 51 9 15.00 PRKDC 0 genome.wustl.edu 37 8 48773481 48773481 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 8 48773481 48773481 C T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.6034 p.E2012K 0.979 pfam_NUC194,superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 tier1 - - 51 0 0.00 24 12 33.33 PRKDC 0 genome.wustl.edu 37 8 48773490 48773490 + Missense_Mutation SNP C C G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 8 48773490 48773490 C G SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.6025 p.E2009Q 1.000 pfam_NUC194,superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 tier1 - - 42 0 0.00 19 11 35.48 PRKG2 0 genome.wustl.edu 37 4 82074836 82074836 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 4 82074836 82074836 C T SNP PRKG2 ENST00000264399 human ensembl 74_37 -1 known missense c.952 p.E318K 0.998 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 tier1 - - 47 0 0.00 15 8 34.78 PRPF4B 0 genome.wustl.edu 37 6 4044110 4044110 + Missense_Mutation SNP A A G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 4044110 4044110 A G SNP PRPF4B ENST00000337659 human ensembl 74_37 +1 known missense c.1714 p.S572G 1.000 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 PRPF4B HGNC ENSG00000112739 tier1 - - 47 0 0.00 58 4 6.35 PRR16 0 genome.wustl.edu 37 5 119800333 119800333 + Missense_Mutation SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 119800333 119800333 T C SNP PRR16 ENST00000407149 human ensembl 74_37 +1 known missense c.152 p.L51P 1.000 NULL NULL - no_errors PRR16 HGNC ENSG00000184838 tier1 - - 48 0 0.00 43 8 15.69 PSKH1 0 genome.wustl.edu 37 16 67961376 67961376 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 16 67961376 67961376 G T SNP PSKH1 ENST00000291041 human ensembl 74_37 +1 known missense c.1106 p.R369L 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PSKH1 HGNC ENSG00000159792 tier1 - - 53 0 0.00 48 4 7.69 PTBP3 0 genome.wustl.edu 37 9 115024805 115024805 + Silent SNP A A G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 9 115024805 115024805 A G SNP PTBP3 ENST00000458258 human ensembl 74_37 -1 known silent c.528 p.N176 0.838 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP3 HGNC ENSG00000119314 tier1 - - 54 0 0.00 19 9 32.14 PTPRD 0 genome.wustl.edu 37 9 8341195 8341195 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 9 8341195 8341195 C T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.5021 p.R1674H 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 tier1 - - 47 0 0.00 6 11 64.71 PXK 0 genome.wustl.edu 37 3 58385044 58385044 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 58385044 58385044 C T SNP PXK ENST00000356151 human ensembl 74_37 +1 known missense c.1121 p.T374M 1.000 superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom pfam_Phox,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_dom - no_errors PXK HGNC ENSG00000168297 tier1 - - 86 0 0.00 74 4 5.13 PZP 0 genome.wustl.edu 37 12 9303324 9303324 + Missense_Mutation SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 9303324 9303324 T G SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.4300 p.S1434R 0.019 pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 tier1 - - 50 0 0.00 12 18 60.00 RALGPS2 0 genome.wustl.edu 37 1 178855160 178855160 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 178855160 178855160 G A SNP RALGPS2 ENST00000367635 human ensembl 74_37 +1 known missense c.1097 p.G366E 1.000 NULL pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC ENSG00000116191 tier1 - - 43 0 0.00 38 12 24.00 RASGRP3 0 genome.wustl.edu 37 2 33736895 33736895 + RNA SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 33736895 33736895 G A SNP RASGRP3 ENST00000497723 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RASGRP3 HGNC ENSG00000152689 tier1 - - 41 0 0.00 23 13 35.14 RBM27 0 genome.wustl.edu 37 5 145608578 145608578 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 145608578 145608578 C T SNP RBM27 ENST00000265271 human ensembl 74_37 +1 known missense c.373 p.R125C 1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 tier1 rs199578137 - 42 0 0.00 26 8 23.53 RC3H1 0 genome.wustl.edu 37 1 173933253 173933253 + Silent SNP T T A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 173933253 173933253 T A SNP RC3H1 ENST00000258349 human ensembl 74_37 -1 known silent c.1689 p.A563 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H1 HGNC ENSG00000135870 tier1 - - 93 0 0.00 63 4 5.97 RCVRN 0 genome.wustl.edu 37 17 9808302 9808302 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 9808302 9808302 C T SNP RCVRN ENST00000226193 human ensembl 74_37 -1 known missense c.196 p.A66T 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors RCVRN HGNC ENSG00000109047 tier1 - - 56 0 0.00 19 7 26.92 REV1 0 genome.wustl.edu 37 2 100046332 100046332 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 100046332 100046332 G A SNP REV1 ENST00000258428 human ensembl 74_37 -1 known missense c.1517 p.A506V 1.000 pfam_DNA_repair_prot_UmuC-like,pirsf_REV1,pfscan_DNA_repair_prot_UmuC-like_N pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 tier1 - - 28 0 0.00 20 5 20.00 REV3L 0 genome.wustl.edu 37 6 111628686 111628686 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 111628686 111628686 C T SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.9130 p.V3044M 1.000 NULL pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 66 0 0.00 41 4 8.89 RGS18 0 genome.wustl.edu 37 1 192129603 192129603 + RNA SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 192129603 192129603 T G SNP RGS18 ENST00000491030 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors RGS18 HGNC ENSG00000150681 tier1 - - 45 0 0.00 37 11 22.92 RIMBP2 0 genome.wustl.edu 37 12 130884319 130884319 + Missense_Mutation SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 130884319 130884319 A C SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.3037 p.F1013V 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 tier1 - - 45 0 0.00 34 11 24.44 RIMS1 0 genome.wustl.edu 37 6 72889338 72889338 + Missense_Mutation SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 72889338 72889338 T C SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.532 p.W178R 0.999 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ 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 RIMS1 HGNC ENSG00000079841 tier1 - - 46 0 0.00 13 12 48.00 RIMS1 0 genome.wustl.edu 37 6 72889607 72889607 + Silent SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 72889607 72889607 T C SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known silent c.801 p.P267 0.999 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 RIMS1 HGNC ENSG00000079841 tier1 - - 44 0 0.00 9 9 50.00 RIMS1 0 genome.wustl.edu 37 6 72922921 72922921 + Silent SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 72922921 72922921 T G SNP RIMS1 ENST00000401910 human ensembl 74_37 +1 putative silent c.96 p.V32 0.448 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors RIMS1 HGNC ENSG00000079841 tier1 - - 22 0 0.00 12 10 45.45 RIMS1 0 genome.wustl.edu 37 6 73043483 73043483 + Missense_Mutation SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 73043483 73043483 A C SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.4311 p.K1437N 0.995 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 RIMS1 HGNC ENSG00000079841 tier1 - - 30 0 0.00 11 13 54.17 RLF 0 genome.wustl.edu 37 1 40697233 40697233 + Missense_Mutation SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 40697233 40697233 C A SNP RLF ENST00000372771 human ensembl 74_37 +1 known missense c.992 p.P331H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 54 0 0.00 35 3 7.89 RN7SL860P 0 genome.wustl.edu 37 19 22784354 22784354 + RNA SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 22784354 22784354 A C SNP RN7SL860P ENST00000473738 human ensembl 74_37 +1 known rna NULL NULL 0.046 - - - no_errors RN7SL860P HGNC ENSG00000240713 tier1 - - 60 0 0.00 26 7 21.21 RNF145 0 genome.wustl.edu 37 5 158634791 158634791 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 158634791 158634791 C T SNP RNF145 ENST00000274542 human ensembl 74_37 -1 known missense c.17 p.R6K 0.193 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC ENSG00000145860 tier1 - - 81 0 0.00 29 28 49.12 RNF175 0 genome.wustl.edu 37 4 154669910 154669910 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 4 154669910 154669910 G A SNP RNF175 ENST00000347063 human ensembl 74_37 -1 known missense c.133 p.H45Y 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF175 HGNC ENSG00000145428 49 0 0.00 37 4 9.76 RNF207 0 genome.wustl.edu 37 1 6269994 6269994 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 6269994 6269994 C T SNP RNF207 ENST00000377948 human ensembl 74_37 +1 known missense c.83 p.A28V 0.995 NULL NULL - no_errors RNF207 HGNC ENSG00000158286 tier1 - - 44 0 0.00 36 4 10.00 ROBO1 0 genome.wustl.edu 37 3 78680429 78680429 + Nonsense_Mutation SNP T T A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 78680429 78680429 T A SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known nonsense c.3508 p.R1170* 0.963 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 tier1 - - 110 0 0.00 68 16 19.05 ROBO2 0 genome.wustl.edu 37 3 77595601 77595601 + Silent SNP A A G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 77595601 77595601 A G SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known silent c.1047 p.K349 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 tier1 - - 64 0 0.00 39 8 17.02 ROBO2 0 genome.wustl.edu 37 3 77613741 77613742 + Splice_Site DEL TA TA - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 77613741 77613742 TA - DEL ROBO2 ENST00000473767 human ensembl 74_37 +1 known splice_site_del c.1695+2_3 e12+2 1.000:1.000 - - - no_errors ROBO2 HGNC ENSG00000185008 tier1 16 0 0.00 10 2 16.67 RPL32P3 0 genome.wustl.edu 37 3 129112078 129112078 + RNA SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 129112078 129112078 G T SNP RPL32P3 ENST00000507238 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors RPL32P3 HGNC ENSG00000251474 tier1 - - 76 0 0.00 67 4 5.56 RPL38 0 genome.wustl.edu 37 17 72200319 72200319 + Frame_Shift_Del DEL G G - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 72200319 72200319 G - DEL RPL38 ENST00000311111 human ensembl 74_37 +1 known frame_shift_del c.54 p.D19fs 1.000 pfam_Ribosomal_L38e pfam_Ribosomal_L38e - no_errors RPL38 HGNC ENSG00000172809 tier1 35 0 0.00 35 2 5.41 RPL7A 0 genome.wustl.edu 37 9 136218133 136218133 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 9 136218133 136218133 G A SNP RPL7A ENST00000323345 human ensembl 74_37 +1 known missense c.713 p.G238D 1.000 prints_Ribosomal_L7A/L8 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2 - no_errors RPL7A HGNC ENSG00000148303 95 0 0.00 76 4 5.00 RPRD2 0 genome.wustl.edu 37 1 150429812 150429812 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 150429812 150429812 G T SNP RPRD2 ENST00000369068 human ensembl 74_37 +1 known missense c.919 p.D307Y 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom - no_errors RPRD2 HGNC ENSG00000163125 28 0 0.00 30 3 9.09 RPS11 0 genome.wustl.edu 37 19 50002780 50002781 + Frame_Shift_Ins INS - - CG TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 50002780 50002781 - CG INS RPS11 ENST00000270625 human ensembl 74_37 +1 known frame_shift_ins c.365_366 p.G123fs 1.000:0.883 pfam_Ribosomal_S17,superfamily_NA-bd_OB-fold,prints_Ribosomal_S17,tigrfam_Ribosomal_S17_arc-typ pfam_Ribosomal_S17,superfamily_NA-bd_OB-fold,prints_Ribosomal_S17,tigrfam_Ribosomal_S17_arc-typ - no_errors RPS11 HGNC ENSG00000142534 tier1 45 0 0.00 25 9 26.47 RTL1 0 genome.wustl.edu 37 14 101349575 101349575 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 14 101349575 101349575 G A SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known silent c.1551 p.D517 1.000 superfamily_Peptidase_aspartic_dom pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 tier1 - - 51 0 0.00 56 12 17.65 RUFY3 0 genome.wustl.edu 37 4 71655255 71655255 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 4 71655255 71655255 G T SNP RUFY3 ENST00000417478 human ensembl 74_37 +1 known missense c.1463 p.R488L 1.000 NULL pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run - no_errors RUFY3 HGNC ENSG00000018189 76 0 0.00 37 2 5.13 SCARNA9 0 genome.wustl.edu 37 11 93454920 93454921 + RNA INS - - G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 93454920 93454921 - G INS SCARNA9 ENST00000530422 human ensembl 74_37 +1 known rna NULL NULL 0.007:0.011 - - - no_errors SCARNA9 HGNC ENSG00000254911 tier1 36 0 0.00 17 5 22.73 SCN2A 0 genome.wustl.edu 37 2 166198961 166198961 + Silent SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 166198961 166198961 T G SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known silent c.2544 p.V848 0.998 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 tier1 - - 81 0 0.00 44 13 22.81 SCN2A 0 genome.wustl.edu 37 2 166231459 166231459 + Missense_Mutation SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 166231459 166231459 C A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.4237 p.L1413M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 tier1 - - 37 0 0.00 36 8 18.18 SDK1 0 genome.wustl.edu 37 7 4153770 4153770 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 7 4153770 4153770 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.3687 p.V1229 0.002 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 53 0 0.00 70 9 11.39 SEC23IP 0 genome.wustl.edu 37 10 121674307 121674307 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 10 121674307 121674307 C T SNP SEC23IP ENST00000369075 human ensembl 74_37 +1 known missense c.1378 p.R460C 1.000 NULL pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD - no_errors SEC23IP HGNC ENSG00000107651 tier1 - - 88 0 0.00 37 23 38.33 SEMA4A 0 genome.wustl.edu 37 1 156130754 156130754 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 156130754 156130754 G T SNP SEMA4A ENST00000355014 human ensembl 74_37 +1 known missense c.744 p.E248D 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 SEMA4A HGNC ENSG00000196189 tier1 - - 34 0 0.00 43 13 23.21 SEMA4D 0 genome.wustl.edu 37 9 91994331 91994331 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 9 91994331 91994331 G A SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known missense c.1877 p.S626L 0.985 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 tier1 - - 53 0 0.00 21 12 36.36 SEMA6D 0 genome.wustl.edu 37 15 48054432 48054432 + Missense_Mutation SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 15 48054432 48054432 T G SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.574 p.L192V 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 - - 44 0 0.00 13 25 65.79 SETD5-AS1 0 genome.wustl.edu 37 3 9438264 9438264 + RNA SNP C C G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 9438264 9438264 C G SNP SETD5-AS1 ENST00000383834 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SETD5-AS1 HGNC ENSG00000206573 tier1 - - 58 0 0.00 38 11 22.00 SFPQ 0 genome.wustl.edu 37 1 35657099 35657099 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 35657099 35657099 C T SNP SFPQ ENST00000357214 human ensembl 74_37 -1 known missense c.860 p.R287K 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors SFPQ HGNC ENSG00000116560 tier1 - - 50 0 0.00 40 10 19.61 SGTB 0 genome.wustl.edu 37 5 64981212 64981212 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 64981212 64981212 C T SNP SGTB ENST00000381007 human ensembl 74_37 -1 known silent c.462 p.K154 1.000 pfam_TPR_1,pfam_TPR_2,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 - - 65 0 0.00 37 21 36.21 SH3GL3 0 genome.wustl.edu 37 15 84245418 84245418 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 15 84245418 84245418 C T SNP SH3GL3 ENST00000324537 human ensembl 74_37 +1 known silent c.573 p.V191 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors SH3GL3 HGNC ENSG00000140600 tier1 - - 57 0 0.00 33 25 42.37 SIPA1L1 0 genome.wustl.edu 37 14 72055443 72055443 + Missense_Mutation SNP G G C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 14 72055443 72055443 G C SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.854 p.R285P 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 tier1 - - 27 0 0.00 26 6 18.18 SLC10A5 0 genome.wustl.edu 37 8 82606447 82606447 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 8 82606447 82606447 G T SNP SLC10A5 ENST00000518568 human ensembl 74_37 -1 known missense c.761 p.S254Y 0.999 pfam_BilAc/Na_symport pfam_BilAc/Na_symport - no_errors SLC10A5 HGNC ENSG00000253598 25 0 0.00 30 2 6.25 SLC24A2 0 genome.wustl.edu 37 9 19516401 19516401 + Splice_Site SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 9 19516401 19516401 C T SNP SLC24A2 ENST00000341998 human ensembl 74_37 -1 known splice_site c.1737-1 e10-1 1.000 - - - no_errors SLC24A2 HGNC ENSG00000155886 tier1 - - 39 0 0.00 6 4 40.00 SLC26A7 0 genome.wustl.edu 37 8 92378943 92378943 + Missense_Mutation SNP A A G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 8 92378943 92378943 A G SNP SLC26A7 ENST00000309536 human ensembl 74_37 +1 known missense c.1624 p.K542E 1.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 tier1 - - 33 0 0.00 24 11 31.43 SLC26A8 0 genome.wustl.edu 37 6 35911951 35911951 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 35911951 35911951 C T SNP SLC26A8 ENST00000355574 human ensembl 74_37 -1 known missense c.2639 p.R880Q 0.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC ENSG00000112053 tier1 rs138910476 - 46 0 0.00 18 28 60.87 SLC36A3 0 genome.wustl.edu 37 5 150672926 150672926 + Frame_Shift_Del DEL T T - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 150672926 150672926 T - DEL SLC36A3 ENST00000377713 human ensembl 74_37 -1 known frame_shift_del c.403 p.R135fs 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A3 HGNC ENSG00000186334 tier1 26 0 0.00 36 2 5.26 SLC4A2 0 genome.wustl.edu 37 7 150767428 150767428 + Nonsense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 7 150767428 150767428 C T SNP SLC4A2 ENST00000413384 human ensembl 74_37 +1 known nonsense c.1444 p.R482* 0.752 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 70 0 0.00 42 3 6.67 SLC6A3 0 genome.wustl.edu 37 5 1403039 1403039 + Nonsense_Mutation SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 1403039 1403039 C A SNP SLC6A3 ENST00000270349 human ensembl 74_37 -1 known nonsense c.1765 p.E589* 1.000 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 tier1 - - 50 0 0.00 59 4 6.35 SLC8A1 0 genome.wustl.edu 37 2 40656990 40656990 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 40656990 40656990 G T SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known missense c.431 p.S144Y 1.000 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 tier1 - - 25 0 0.00 18 5 21.74 SLIT3 0 genome.wustl.edu 37 5 168201289 168201289 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 168201289 168201289 G T SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known missense c.1246 p.Q416K 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 60 0 0.00 51 4 7.27 SLITRK3 0 genome.wustl.edu 37 3 164905923 164905923 + Missense_Mutation SNP A A T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 164905923 164905923 A T SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known missense c.2696 p.F899Y 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 tier1 - - 56 0 0.00 31 7 18.42 SNORA35 0 genome.wustl.edu 37 X 113865309 113865309 + RNA SNP A A G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 X 113865309 113865309 A G SNP SNORA35 ENST00000386104 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORA35 HGNC ENSG00000208839 tier1 - - 11 0 0.00 4 11 73.33 SNPH 0 genome.wustl.edu 37 20 1285832 1285832 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 20 1285832 1285832 C T SNP SNPH ENST00000381867 human ensembl 74_37 +1 known missense c.751 p.R251C 1.000 NULL NULL - no_errors SNPH HGNC ENSG00000101298 tier1 rs151237144 - 19 0 0.00 15 4 21.05 SNRPN 0 genome.wustl.edu 37 15 25223032 25223032 + Silent SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 15 25223032 25223032 C A SNP SNRPN ENST00000444203 human ensembl 74_37 +1 known silent c.540 p.P180 0.144 pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPN HGNC ENSG00000128739 tier1 - - 35 0 0.00 25 7 21.88 SNTB1 0 genome.wustl.edu 37 8 121561073 121561073 + Missense_Mutation SNP A A T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 8 121561073 121561073 A T SNP SNTB1 ENST00000395601 human ensembl 74_37 -1 known missense c.1262 p.L421H 1.000 pfam_Pleckstrin_homology,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 tier1 - - 72 0 0.00 78 15 16.13 SORCS3 0 genome.wustl.edu 37 10 106976760 106976760 + Missense_Mutation SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 10 106976760 106976760 T C SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.2614 p.F872L 1.000 pfam_PKD_dom,superfamily_PKD_dom,pfscan_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 tier1 - - 63 0 0.00 30 12 28.57 SOX11 0 genome.wustl.edu 37 2 5833012 5833012 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 5833012 5833012 G T SNP SOX11 ENST00000322002 human ensembl 74_37 +1 known missense c.159 p.M53I 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 65 0 0.00 43 4 8.51 SOX14 0 genome.wustl.edu 37 3 137484171 137484171 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 137484171 137484171 G T SNP SOX14 ENST00000306087 human ensembl 74_37 +1 known missense c.545 p.C182F 1.000 NULL pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX14 HGNC ENSG00000168875 21 0 0.00 13 4 23.53 SPATA31D5P 0 genome.wustl.edu 37 9 84533064 84533064 + RNA SNP A A G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 9 84533064 84533064 A G SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SPATA31D5P HGNC ENSG00000240632 tier1 - - 126 0 0.00 41 21 33.87 SPTBN4 0 genome.wustl.edu 37 19 41021258 41021258 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 41021258 41021258 C T SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.2806 p.R936C 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 tier1 - - 65 0 0.00 40 15 27.27 SPTBN4 0 genome.wustl.edu 37 19 41060159 41060159 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 41060159 41060159 G A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.4781 p.R1594Q 0.576 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 11 0 0.00 4 4 50.00 SRCAP 0 genome.wustl.edu 37 16 30731618 30731618 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 16 30731618 30731618 C T SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.2953 p.P985S 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 tier1 - - 44 0 0.00 40 10 20.00 SRRM2 0 genome.wustl.edu 37 16 2813939 2813939 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 16 2813939 2813939 G A SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.3410 p.R1137K 0.283 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 - - 22 0 0.00 24 6 20.00 SSH2 0 genome.wustl.edu 37 17 27959030 27959030 + Missense_Mutation SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 27959030 27959030 T G SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.3101 p.E1034A 0.009 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 tier1 - - 67 0 0.00 46 39 45.35 SSTR3 0 genome.wustl.edu 37 22 37603090 37603090 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 22 37603090 37603090 G A SNP SSTR3 ENST00000328544 human ensembl 74_37 -1 known silent c.753 p.S251 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt - no_errors SSTR3 HGNC ENSG00000183473 tier1 - - 39 0 0.00 9 12 57.14 ST6GALNAC1 0 genome.wustl.edu 37 17 74625767 74625767 + Missense_Mutation SNP T T A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 74625767 74625767 T A SNP ST6GALNAC1 ENST00000156626 human ensembl 74_37 -1 known missense c.158 p.E53V 0.000 NULL pfam_Glyco_trans_29 - no_errors ST6GALNAC1 HGNC ENSG00000070526 tier1 - - 27 0 0.00 19 5 20.83 STAB2 0 genome.wustl.edu 37 12 104131498 104131498 + Silent SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 104131498 104131498 T C SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known silent c.5637 p.C1879 0.999 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 tier1 - - 97 0 0.00 129 24 15.58 STAC 0 genome.wustl.edu 37 3 36526484 36526484 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 36526484 36526484 C T SNP STAC ENST00000273183 human ensembl 74_37 +1 known missense c.505 p.R169C 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors STAC HGNC ENSG00000144681 tier1 - - 73 0 0.00 43 17 28.33 STAC3 0 genome.wustl.edu 37 12 57643391 57643391 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 57643391 57643391 G T SNP STAC3 ENST00000332782 human ensembl 74_37 -1 known missense c.29 p.P10H 1.000 NULL pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox - no_errors STAC3 HGNC ENSG00000185482 tier1 - - 74 0 0.00 52 4 7.14 STOML1 0 genome.wustl.edu 37 15 74281474 74281474 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 15 74281474 74281474 C T SNP STOML1 ENST00000316900 human ensembl 74_37 -1 known missense c.365 p.R122Q 0.962 pfam_Band_7,smart_Band_7 pfam_Band_7,pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom,smart_Band_7,prints_Stomatin - no_errors STOML1 HGNC ENSG00000067221 27 0 0.00 16 3 15.79 SYCE1 0 genome.wustl.edu 37 10 135373623 135373623 + Missense_Mutation SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 10 135373623 135373623 C A SNP SYCE1 ENST00000343131 human ensembl 74_37 -1 known missense c.108 p.L36F 0.995 NULL NULL - no_errors SYCE1 HGNC ENSG00000171772 tier1 - - 90 0 0.00 40 15 27.27 SYNDIG1 0 genome.wustl.edu 37 20 24523764 24523764 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 20 24523764 24523764 C T SNP SYNDIG1 ENST00000376862 human ensembl 74_37 +1 known silent c.31 p.L11 0.724 NULL pfam_CD225/Dispanin_fam - no_errors SYNDIG1 HGNC ENSG00000101463 tier1 - - 52 0 0.00 72 4 5.26 SYNE1 0 genome.wustl.edu 37 6 152469273 152469273 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 152469273 152469273 G T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.24883 p.L8295M 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 36 0 0.00 16 11 40.74 TACR1 0 genome.wustl.edu 37 2 75425905 75425905 + Silent SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 75425905 75425905 T C SNP TACR1 ENST00000305249 human ensembl 74_37 -1 known silent c.156 p.V52 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt - no_errors TACR1 HGNC ENSG00000115353 tier1 - - 40 0 0.00 39 4 9.30 TAF10 0 genome.wustl.edu 37 11 6632681 6632681 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 6632681 6632681 G A SNP TAF10 ENST00000299424 human ensembl 74_37 -1 known silent c.390 p.I130 1.000 pfam_TFIID_30kDa,pirsf_TFIID_30kDa,prints_TFIID_30kDa pfam_TFIID_30kDa,pirsf_TFIID_30kDa,prints_TFIID_30kDa - no_errors TAF10 HGNC ENSG00000166337 tier1 - - 19 0 0.00 6 11 61.11 TAF1L 0 genome.wustl.edu 37 9 32631536 32631536 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 9 32631536 32631536 G T SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.4042 p.L1348I 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 tier1 - - 82 0 0.00 33 50 60.24 TANC1 0 genome.wustl.edu 37 2 160032893 160032893 + Frame_Shift_Del DEL T T - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 160032893 160032893 T - DEL TANC1 ENST00000263635 human ensembl 74_37 +1 known frame_shift_del c.1766 p.L590fs 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 tier1 62 0 0.00 24 23 48.94 TBC1D19 0 genome.wustl.edu 37 4 26750061 26750061 + Silent SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 4 26750061 26750061 C A SNP TBC1D19 ENST00000264866 human ensembl 74_37 +1 known silent c.1348 p.R450 0.996 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D19 HGNC ENSG00000109680 tier1 - - 48 0 0.00 12 6 33.33 TBC1D3F 0 genome.wustl.edu 37 17 36288208 36288208 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 36288208 36288208 G A SNP TBC1D3F ENST00000327454 human ensembl 74_37 +1 known silent c.294 p.A98 0.997 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D3F HGNC ENSG00000185128 tier1 - - 359 0 0.00 363 62 14.55 TBX4 0 genome.wustl.edu 37 17 59533902 59533902 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 59533902 59533902 G A SNP TBX4 ENST00000393853 human ensembl 74_37 +1 known silent c.51 p.P17 0.996 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX4 HGNC ENSG00000121075 tier1 - - 40 0 0.00 22 14 38.89 TBX5 0 genome.wustl.edu 37 12 114793830 114793830 + Missense_Mutation SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 114793830 114793830 C A SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known missense c.1064 p.R355L 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 tier1 - - 35 0 0.00 31 20 39.22 TCHH 0 genome.wustl.edu 37 1 152084220 152084220 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 152084220 152084220 G A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known silent c.1473 p.L491 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 - - 158 0 0.00 147 36 19.67 TDRD12 0 genome.wustl.edu 37 19 33309051 33309052 + Frame_Shift_Ins INS - - G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 33309051 33309052 - G INS TDRD12 ENST00000444215 human ensembl 74_37 +1 known frame_shift_ins c.3371_3372 p.Q1127fs 0.001:0.000 NULL pfam_Tudor,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase - no_errors TDRD12 HGNC ENSG00000173809 tier1 49 0 0.00 28 8 22.22 TDRD15 0 genome.wustl.edu 37 2 21363502 21363502 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 21363502 21363502 G A SNP TDRD15 ENST00000405799 human ensembl 74_37 +1 novel missense c.3163 p.V1055I 0.991 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors TDRD15 HGNC ENSG00000218819 tier1 - - 58 0 0.00 28 37 56.92 TERF1 0 genome.wustl.edu 37 8 73921284 73921286 + In_Frame_Del DEL GAG GAG - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 8 73921284 73921286 GAG - DEL TERF1 ENST00000276603 human ensembl 74_37 +1 known in_frame_del c.163_165 p.E58in_frame_del 0.121:0.130:0.144 pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF1 HGNC ENSG00000147601 tier1 34 0 0.00 20 2 9.09 TET3 0 genome.wustl.edu 37 2 74275330 74275330 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 74275330 74275330 G A SNP TET3 ENST00000409262 human ensembl 74_37 +1 known silent c.1881 p.S627 0.150 NULL NULL - no_errors TET3 HGNC ENSG00000187605 tier1 - - 54 0 0.00 38 12 24.00 TEX15 0 genome.wustl.edu 37 8 30694695 30694695 + Silent SNP A A G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 8 30694695 30694695 A G SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known silent c.7956 p.F2652 0.055 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 45 0 0.00 25 3 10.71 TEX37 0 genome.wustl.edu 37 2 88828813 88828813 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 88828813 88828813 G A SNP TEX37 ENST00000303254 human ensembl 74_37 +1 known missense c.364 p.D122N 0.000 NULL NULL - no_errors TEX37 HGNC ENSG00000172073 tier1 - - 43 0 0.00 51 6 10.53 THEMIS 0 genome.wustl.edu 37 6 128134235 128134238 + Frame_Shift_Del DEL ACTA ACTA - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 ACTA ACTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 128134235 128134238 ACTA - DEL THEMIS ENST00000543064 human ensembl 74_37 -1 known frame_shift_del c.1551_1548 p.S517fs 0.000:0.015:0.015:0.017 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 tier1 55 0 0.00 24 5 17.24 THSD7A 0 genome.wustl.edu 37 7 11485918 11485918 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 7 11485918 11485918 G A SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.2834 p.S945F 0.849 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 tier1 - - 42 0 0.00 43 17 28.33 TLK2 0 genome.wustl.edu 37 17 60673967 60673967 + Silent SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 60673967 60673967 G T SNP TLK2 ENST00000326270 human ensembl 74_37 +1 known silent c.1548 p.R516 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 TLK2 HGNC ENSG00000146872 tier1 - - 58 0 0.00 63 4 5.97 TMED1 0 genome.wustl.edu 37 19 10943821 10943821 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 10943821 10943821 G A SNP TMED1 ENST00000591695 human ensembl 74_37 -1 putative missense c.350 p.S117L 0.099 NULL pfam_GOLD,superfamily_GOLD - no_errors TMED1 HGNC ENSG00000099203 tier1 - - 56 0 0.00 18 15 45.45 TMEM134 0 genome.wustl.edu 37 11 67232038 67232038 + RNA SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 67232038 67232038 C T SNP TMEM134 ENST00000535813 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TMEM134 HGNC ENSG00000172663 tier1 - - 92 0 0.00 41 45 52.33 TNR 0 genome.wustl.edu 37 1 175375752 175375752 + Silent SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 175375752 175375752 C A SNP TNR ENST00000263525 human ensembl 74_37 -1 known silent c.99 p.L33 1.000 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 tier1 - - 69 0 0.00 34 11 24.44 TOM1L1 0 genome.wustl.edu 37 17 53016302 53016302 + Missense_Mutation SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 53016302 53016302 T G SNP TOM1L1 ENST00000575882 human ensembl 74_37 +1 known missense c.1051 p.S351A 0.000 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L1 HGNC ENSG00000141198 tier1 - - 71 0 0.00 57 14 19.72 TPM2 0 genome.wustl.edu 37 9 35689162 35689162 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 9 35689162 35689162 G T SNP TPM2 ENST00000360958 human ensembl 74_37 -1 known missense c.221 p.A74D 1.000 pfam_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM2 HGNC ENSG00000198467 55 0 0.00 57 3 5.00 TPR 0 genome.wustl.edu 37 1 186331970 186331972 + In_Frame_Del DEL TCT TCT - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 1 186331970 186331972 TCT - DEL TPR ENST00000367478 human ensembl 74_37 -1 known in_frame_del c.695_693 p.E232in_frame_del 1.000:1.000:0.914 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 tier1 34 0 0.00 23 6 20.69 TPSG1 0 genome.wustl.edu 37 16 1272740 1272740 + Silent SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 16 1272740 1272740 G T SNP TPSG1 ENST00000234798 human ensembl 74_37 -1 known silent c.423 p.I141 0.316 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TPSG1 HGNC ENSG00000116176 tier1 - - 68 0 0.00 62 4 6.06 TRAM1L1 0 genome.wustl.edu 37 4 118005607 118005607 + Missense_Mutation SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 4 118005607 118005607 A C SNP TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known missense c.943 p.L315V 0.297 pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 tier1 - - 62 0 0.00 40 17 29.82 TRANK1 0 genome.wustl.edu 37 3 36898232 36898232 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 36898232 36898232 C T SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.2849 p.R950H 1.000 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 tier1 - - 31 0 0.00 15 6 28.57 TRIM3 0 genome.wustl.edu 37 11 6478611 6478611 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 6478611 6478611 G A SNP TRIM3 ENST00000345851 human ensembl 74_37 -1 known missense c.611 p.A204V 1.000 smart_Bbox_C pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM3 HGNC ENSG00000110171 tier1 - - 24 0 0.00 12 14 53.85 TRIM37 0 genome.wustl.edu 37 17 57165645 57165645 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 17 57165645 57165645 G A SNP TRIM37 ENST00000584889 human ensembl 74_37 -1 putative silent c.288 p.V96 0.001 NULL pfscan_Znf_RING - no_errors TRIM37 HGNC ENSG00000108395 tier1 - - 23 0 0.00 22 9 29.03 TRIM64C 0 genome.wustl.edu 37 11 49078792 49078792 + Nonsense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 11 49078792 49078792 G A SNP TRIM64C ENST00000530230 human ensembl 74_37 -1 known nonsense c.637 p.Q213* 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM64C HGNC ENSG00000214891 tier1 - - 186 0 0.00 137 57 29.38 TRPM3 0 genome.wustl.edu 37 9 73399029 73399029 + Silent SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 9 73399029 73399029 T C SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known silent c.1221 p.E407 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 tier1 - - 78 0 0.00 27 14 34.15 TTBK1 0 genome.wustl.edu 37 6 43251696 43251696 + Missense_Mutation SNP T T A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 43251696 43251696 T A SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known missense c.3218 p.L1073Q 0.995 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 TTBK1 HGNC ENSG00000146216 tier1 - - 26 0 0.00 34 8 19.05 TTC40 0 genome.wustl.edu 37 10 134626329 134626329 + Silent SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 10 134626329 134626329 G T SNP TTC40 ENST00000263170 human ensembl 74_37 -1 known silent c.1944 p.S648 0.110 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 15 0 0.00 6 2 25.00 TTN 0 genome.wustl.edu 37 2 179469737 179469737 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 179469737 179469737 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.46463 p.R15488Q 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 32 0 0.00 21 11 34.38 TTYH3 0 genome.wustl.edu 37 7 2695802 2695802 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 7 2695802 2695802 G A SNP TTYH3 ENST00000258796 human ensembl 74_37 +1 known missense c.1097 p.C366Y 1.000 pfam_Tweety pfam_Tweety - no_errors TTYH3 HGNC ENSG00000136295 tier1 - - 59 0 0.00 63 5 7.25 TUBB8P7 0 genome.wustl.edu 37 16 90161061 90161061 + RNA SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 16 90161061 90161061 G A SNP TUBB8P7 ENST00000563927 human ensembl 74_37 +1 known rna NULL NULL 0.524 - - - no_errors TUBB8P7 HGNC ENSG00000261812 tier1 - - 129 0 0.00 105 29 21.64 TUBGCP6 0 genome.wustl.edu 37 22 50657243 50657244 + Frame_Shift_Ins INS - - A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 22 50657243 50657244 - A INS TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known frame_shift_ins c.4710_4709 p.H1571fs 0.997:1.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 tier1 49 0 0.00 11 2 15.38 TXNDC5 0 genome.wustl.edu 37 6 7899873 7899873 + Missense_Mutation SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 7899873 7899873 T C SNP TXNDC5 ENST00000379757 human ensembl 74_37 -1 known missense c.455 p.Q152R 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors TXNDC5 HGNC ENSG00000239264 tier1 - - 68 0 0.00 67 5 6.94 UBE2V1 0 genome.wustl.edu 37 20 48698320 48698320 + RNA SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 20 48698320 48698320 G A SNP UBE2V1 ENST00000396059 human ensembl 74_37 -1 known rna NULL NULL 0.474 - - - no_errors UBE2V1 HGNC ENSG00000244687 tier1 - - 9 0 0.00 15 11 42.31 UBE3B 0 genome.wustl.edu 37 12 109959339 109959339 + Missense_Mutation SNP G G C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 109959339 109959339 G C SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known missense c.2347 p.G783R 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 tier1 - - 60 0 0.00 89 7 7.29 UGT2B4 0 genome.wustl.edu 37 4 70361097 70361097 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 4 70361097 70361097 G A SNP UGT2B4 ENST00000305107 human ensembl 74_37 -1 known silent c.483 p.A161 0.181 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B4 HGNC ENSG00000156096 tier1 - - 65 0 0.00 25 13 34.21 UMODL1 0 genome.wustl.edu 37 21 43524107 43524107 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 21 43524107 43524107 C T SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known missense c.1429 p.P477S 0.005 pfam_SEA_dom pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 tier1 - - 37 0 0.00 15 3 16.67 UNC13C 0 genome.wustl.edu 37 15 54685372 54685372 + Missense_Mutation SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 15 54685372 54685372 C A SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.4840 p.L1614M 1.000 pfam_Ca-dep_secretion_activator pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 53 0 0.00 39 11 22.00 UNC5A 0 genome.wustl.edu 37 5 176295959 176295959 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 176295959 176295959 G A SNP UNC5A ENST00000329542 human ensembl 74_37 +1 known missense c.715 p.V239I 1.000 superfamily_Thrombospondin_1_rpt,smart_Ig_sub pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5A HGNC ENSG00000113763 tier1 - - 29 0 0.00 17 12 41.38 USP4 0 genome.wustl.edu 37 3 49331951 49331951 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 49331951 49331951 G T SNP USP4 ENST00000265560 human ensembl 74_37 -1 known missense c.1772 p.P591Q 0.958 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP4 HGNC ENSG00000114316 tier1 - - 61 0 0.00 45 16 26.23 VAT1L 0 genome.wustl.edu 37 16 78005824 78005824 + Silent SNP T T A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 16 78005824 78005824 T A SNP VAT1L ENST00000302536 human ensembl 74_37 +1 known silent c.1155 p.T385 0.997 NULL pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors VAT1L HGNC ENSG00000171724 tier1 - - 29 0 0.00 14 4 22.22 VCL 0 genome.wustl.edu 37 10 75867026 75867026 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 10 75867026 75867026 C T SNP VCL ENST00000211998 human ensembl 74_37 +1 known silent c.2473 p.L825 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 tier1 - - 55 0 0.00 29 10 25.64 VEGFC 0 genome.wustl.edu 37 4 177608398 177608398 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 4 177608398 177608398 G T SNP VEGFC ENST00000280193 human ensembl 74_37 -1 known missense c.1088 p.T363K 1.000 NULL pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFC HGNC ENSG00000150630 tier1 - - 95 0 0.00 50 14 21.88 VPS18 0 genome.wustl.edu 37 15 41195145 41195145 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 15 41195145 41195145 G A SNP VPS18 ENST00000220509 human ensembl 74_37 +1 known missense c.2528 p.R843H 1.000 NULL pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 tier1 - - 60 0 0.00 45 4 8.16 VSIG10L 0 genome.wustl.edu 37 19 51845039 51845039 + Missense_Mutation SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 51845039 51845039 T C SNP VSIG10L ENST00000335624 human ensembl 74_37 -1 novel missense c.263 p.N88S 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors VSIG10L HGNC ENSG00000186806 tier1 - - 65 0 0.00 42 4 8.70 VWA5B2 0 genome.wustl.edu 37 3 183952435 183952435 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 3 183952435 183952435 C T SNP VWA5B2 ENST00000426955 human ensembl 74_37 +1 known silent c.837 p.H279 1.000 NULL NULL - no_errors VWA5B2 HGNC ENSG00000145198 tier1 - - 25 0 0.00 17 8 32.00 WDR36 0 genome.wustl.edu 37 5 110459844 110459844 + Silent SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 110459844 110459844 A C SNP WDR36 ENST00000506538 human ensembl 74_37 +1 known silent c.2475 p.S825 1.000 pfam_SSU_processome_Utp21 pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 tier1 - - 76 0 0.00 67 14 17.28 WDR4 0 genome.wustl.edu 37 21 44283655 44283655 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 21 44283655 44283655 C T SNP WDR4 ENST00000330317 human ensembl 74_37 -1 known silent c.348 p.K116 0.997 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR4 HGNC ENSG00000160193 tier1 - - 41 0 0.00 33 10 23.26 WHSC1 0 genome.wustl.edu 37 4 1932412 1932412 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 4 1932412 1932412 G T SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known missense c.1470 p.Q490H 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 tier1 - - 74 0 0.00 49 4 7.55 WRNIP1 0 genome.wustl.edu 37 6 2784625 2784625 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 2784625 2784625 G A SNP WRNIP1 ENST00000380773 human ensembl 74_37 +1 known missense c.1710 p.M570I 1.000 pfam_MgsA_C pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_Znf_Rad18_put,smart_AAA+_ATPase - no_errors WRNIP1 HGNC ENSG00000124535 tier1 - - 49 0 0.00 23 28 54.90 XPNPEP1 0 genome.wustl.edu 37 10 111643831 111643831 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 10 111643831 111643831 G A SNP XPNPEP1 ENST00000502935 human ensembl 74_37 -1 known missense c.824 p.T275M 0.973 NULL pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP1 HGNC ENSG00000108039 tier1 - - 52 0 0.00 41 4 8.89 XRN2 0 genome.wustl.edu 37 20 21367540 21367540 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 20 21367540 21367540 C T SNP XRN2 ENST00000377191 human ensembl 74_37 +1 known missense c.2683 p.R895W 1.000 pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 50 0 0.00 36 3 7.69 ZC3H6 0 genome.wustl.edu 37 2 113089797 113089797 + Missense_Mutation SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 113089797 113089797 C A SNP ZC3H6 ENST00000343936 human ensembl 74_37 +1 known missense c.3302 p.P1101Q 0.017 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 tier1 - - 34 0 0.00 16 9 36.00 ZCCHC14 0 genome.wustl.edu 37 16 87445479 87445479 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 16 87445479 87445479 G A SNP ZCCHC14 ENST00000268616 human ensembl 74_37 -1 known missense c.2437 p.P813S 1.000 NULL pfam_SAM_type1,pfam_Znf_CCHC,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC14 HGNC ENSG00000140948 tier1 - - 170 0 0.00 110 32 22.54 ZCCHC24 0 genome.wustl.edu 37 10 81154069 81154069 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 10 81154069 81154069 C T SNP ZCCHC24 ENST00000372336 human ensembl 74_37 -1 known missense c.575 p.C192Y 1.000 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC24 HGNC ENSG00000165424 tier1 - - 44 0 0.00 24 4 14.29 ZFAND3 0 genome.wustl.edu 37 6 38029503 38029503 + Nonsense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 38029503 38029503 C T SNP ZFAND3 ENST00000287218 human ensembl 74_37 +1 known nonsense c.247 p.Q83* 1.000 NULL pfam_Znf_AN1,pfam_Znf_A20,smart_Znf_A20,smart_Znf_AN1,pfscan_Znf_A20,pfscan_Znf_AN1 - no_errors ZFAND3 HGNC ENSG00000156639 51 0 0.00 72 4 5.26 ZFP42 0 genome.wustl.edu 37 4 188924613 188924613 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 4 188924613 188924613 G A SNP ZFP42 ENST00000326866 human ensembl 74_37 +1 known missense c.652 p.V218I 0.900 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP42 HGNC ENSG00000179059 tier1 - - 24 0 0.00 11 4 26.67 ZFPM2 0 genome.wustl.edu 37 8 106814592 106814592 + Missense_Mutation SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 8 106814592 106814592 T C SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.2282 p.L761P 0.995 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 tier1 - - 21 0 0.00 11 6 35.29 ZMAT2 0 genome.wustl.edu 37 5 140080056 140080056 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 140080056 140080056 G T SNP ZMAT2 ENST00000274712 human ensembl 74_37 +1 known missense c.11 p.G4V 1.000 NULL pfam_Znf_C2H2_jaz,pfam_Znf_U1-C,smart_Znf_U1 - no_errors ZMAT2 HGNC ENSG00000146007 tier1 - - 66 0 0.00 40 4 9.09 ZNF208 0 genome.wustl.edu 37 19 22155989 22155989 + Missense_Mutation SNP T T C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 22155989 22155989 T C SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.1847 p.K616R 0.997 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 ZNF208 HGNC ENSG00000160321 tier1 - - 108 0 0.00 53 23 30.26 ZNF217 0 genome.wustl.edu 37 20 52193535 52193535 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 20 52193535 52193535 C T SNP ZNF217 ENST00000302342 human ensembl 74_37 -1 known missense c.1768 p.A590T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 tier1 - - 70 0 0.00 70 24 25.53 ZNF271 0 genome.wustl.edu 37 18 32888075 32888075 + RNA DEL A A - TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 18 32888075 32888075 A - DEL ZNF271 ENST00000399070 human ensembl 74_37 +1 known rna NULL NULL 0.019 - - - no_errors ZNF271 HGNC ENSG00000257267 tier1 51 0 0.00 39 5 11.36 ZNF280D 0 genome.wustl.edu 37 15 56974614 56974614 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 15 56974614 56974614 G T SNP ZNF280D ENST00000267807 human ensembl 74_37 -1 known missense c.842 p.T281K 0.856 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280D HGNC ENSG00000137871 tier1 - - 39 0 0.00 61 4 6.15 ZNF341 0 genome.wustl.edu 37 20 32346608 32346608 + Nonsense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 20 32346608 32346608 C T SNP ZNF341 ENST00000375200 human ensembl 74_37 +1 known nonsense c.1024 p.R342* 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 tier1 - - 29 0 0.00 27 6 18.18 ZNF346 0 genome.wustl.edu 37 5 176449767 176449767 + Nonsense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 5 176449767 176449767 C T SNP ZNF346 ENST00000261948 human ensembl 74_37 +1 known nonsense c.28 p.Q10* 0.015 NULL smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF346 HGNC ENSG00000113761 82 0 0.00 69 4 5.48 ZNF384 0 genome.wustl.edu 37 12 6787531 6787531 + Missense_Mutation SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 12 6787531 6787531 C T SNP ZNF384 ENST00000361959 human ensembl 74_37 -1 known missense c.448 p.A150T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF384 HGNC ENSG00000126746 tier1 - - 42 0 0.00 5 12 70.59 ZNF419 0 genome.wustl.edu 37 19 58005060 58005060 + Missense_Mutation SNP T T G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 58005060 58005060 T G SNP ZNF419 ENST00000424930 human ensembl 74_37 +1 known missense c.1138 p.F380V 0.743 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 ZNF419 HGNC ENSG00000105136 tier1 - - 92 0 0.00 55 21 27.63 ZNF446 0 genome.wustl.edu 37 19 58989057 58989057 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 58989057 58989057 G T SNP ZNF446 ENST00000594369 human ensembl 74_37 +1 known missense c.396 p.E132D 0.206 smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF446 HGNC ENSG00000083838 tier1 - - 51 0 0.00 13 9 40.91 ZNF469 0 genome.wustl.edu 37 16 88503805 88503805 + Silent SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 16 88503805 88503805 C A SNP ZNF469 ENST00000437464 human ensembl 74_37 +1 known silent c.9843 p.P3281 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 11 0 0.00 7 3 30.00 ZNF554 0 genome.wustl.edu 37 19 2833992 2833992 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 2833992 2833992 C T SNP ZNF554 ENST00000317243 human ensembl 74_37 +1 known silent c.759 p.S253 0.034 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 ZNF554 HGNC ENSG00000172006 tier1 - - 31 0 0.00 17 14 45.16 ZNF570 0 genome.wustl.edu 37 19 37975066 37975066 + Missense_Mutation SNP A A G TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 37975066 37975066 A G SNP ZNF570 ENST00000330173 human ensembl 74_37 +1 known missense c.542 p.K181R 0.842 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 ZNF570 HGNC ENSG00000171827 tier1 - - 30 0 0.00 11 10 47.62 ZNF585A 0 genome.wustl.edu 37 19 37643680 37643680 + Missense_Mutation SNP C C A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 37643680 37643680 C A SNP ZNF585A ENST00000356958 human ensembl 74_37 -1 known missense c.1121 p.R374I 1.000 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 ZNF585A HGNC ENSG00000196967 tier1 - - 73 0 0.00 35 19 35.19 ZNF668 0 genome.wustl.edu 37 16 31075994 31075994 + RNA SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 16 31075994 31075994 G A SNP ZNF668 ENST00000564456 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF668 HGNC ENSG00000167394 tier1 - - 26 0 0.00 20 4 16.67 ZNF74 0 genome.wustl.edu 37 22 20759771 20759771 + Missense_Mutation SNP G G C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 22 20759771 20759771 G C SNP ZNF74 ENST00000356671 human ensembl 74_37 +1 known missense c.448 p.G150R 0.023 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 ZNF74 HGNC ENSG00000185252 tier1 - - 35 0 0.00 24 17 41.46 ZRANB3 0 genome.wustl.edu 37 2 136033263 136033264 + Frame_Shift_Ins INS - - C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 2 136033263 136033264 - C INS ZRANB3 ENST00000264159 human ensembl 74_37 -1 known frame_shift_ins c.1029_1028 p.A345fs 0.998:1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 tier1 40 0 0.00 36 7 16.28 ZSCAN18 0 genome.wustl.edu 37 19 58596076 58596076 + Silent SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 19 58596076 58596076 G A SNP ZSCAN18 ENST00000600404 human ensembl 74_37 -1 known silent c.1677 p.P559 0.041 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 15 0 0.00 11 3 21.43 ZSCAN23 0 genome.wustl.edu 37 6 28403283 28403283 + Silent SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5fc5cabe-ac15-457f-ba77-e14eb0a22f73 49823a1d-4dc9-476a-a958-d0b86155a286 6 28403283 28403283 C T SNP ZSCAN23 ENST00000289788 human ensembl 74_37 -1 known silent c.510 p.E170 0.841 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN23 HGNC ENSG00000187987 tier1 - - 30 0 0.00 29 7 19.44