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 ACSM2B 348158 genome.wustl.edu 37 16 20548639 20548639 + Nonsense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 16 20548639 20548639 G A SNP ACSM2B ENST00000329697 human ensembl 70_37 -1 known nonsense c.1675 p.Q559* 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM2B HGNC ADAM8 101 genome.wustl.edu 37 10 135082987 135082987 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 10 135082987 135082987 G A SNP ADAM8 ENST00000445355 human ensembl 70_37 -1 known missense c.1910 p.P637L 0.999 pfscan_EG-like_dom pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM8 HGNC ADAMTS16 170690 genome.wustl.edu 37 5 5239840 5239840 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 5 5239840 5239840 C T SNP ADAMTS16 ENST00000274181 human ensembl 70_37 +1 known silent c.2325 p.R775 0.060 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ADCY9 115 genome.wustl.edu 37 16 4043460 4043460 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 16 4043460 4043460 C T SNP ADCY9 ENST00000294016 human ensembl 70_37 -1 known missense c.1936 p.E646K 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ADH4 127 genome.wustl.edu 37 4 100048484 100048484 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 4 100048484 100048484 C T SNP ADH4 ENST00000423445 human ensembl 70_37 -1 known silent c.912 p.L304 0.930 pfam_ADH_C,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors ADH4 HGNC ADRBK1 156 genome.wustl.edu 37 11 67052440 67052440 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 11 67052440 67052440 G A SNP ADRBK1 ENST00000308595 human ensembl 70_37 +1 known missense c.1777 p.E593K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC ALS2CR12 130540 genome.wustl.edu 37 2 202211365 202211365 + Missense_Mutation SNP C C G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 202211365 202211365 C G SNP ALS2CR12 ENST00000286190 human ensembl 70_37 -1 known missense c.268 p.V90L 0.000 NULL superfamily_t-SNARE - no_errors ALS2CR12 HGNC ANKRD24 170961 genome.wustl.edu 37 19 4222693 4222693 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 19 4222693 4222693 C T SNP ANKRD24 ENST00000318934 human ensembl 70_37 +1 known silent c.3198 p.F1066 0.809 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD24 HGNC APCS 325 genome.wustl.edu 37 1 159558199 159558199 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 159558199 159558199 G A SNP APCS ENST00000255040 human ensembl 70_37 +1 known missense c.373 p.E125K 0.004 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors APCS HGNC ARHGAP31 57514 genome.wustl.edu 37 3 119099772 119099772 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 119099772 119099772 G A SNP ARHGAP31 ENST00000264245 human ensembl 70_37 +1 known missense c.370 p.E124K 0.996 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ARPP21 10777 genome.wustl.edu 37 3 35835544 35835544 + RNA SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 35835544 35835544 C T SNP ARPP21 ENST00000476052 human ensembl 70_37 +1 known rna NULL NULL 0.895 - - - no_errors ARPP21 HGNC ATM 472 genome.wustl.edu 37 11 108236094 108236094 + Frame_Shift_Del DEL A A - TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 11 108236094 108236094 A - DEL ATM ENST00000278616 human ensembl 70_37 +1 known frame_shift_del c.9030 p.M3011fs 0.996 smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,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 ATM HGNC ATXN3L 92552 genome.wustl.edu 37 X 13337277 13337277 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 13337277 13337277 G A SNP ATXN3L ENST00000380622 human ensembl 70_37 -1 known silent c.777 p.S259 0.010 smart_Ubiquitin-int_motif pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin - no_errors ATXN3L HGNC BANP 54971 genome.wustl.edu 37 16 88110231 88110231 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 16 88110231 88110231 G A SNP BANP ENST00000286122 human ensembl 70_37 +1 known silent c.1524 p.E508 0.858 NULL pfam_BEN_domain - no_errors BANP HGNC BCOR 54880 genome.wustl.edu 37 X 39932689 39932689 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 39932689 39932689 G A SNP BCOR ENST00000378444 human ensembl 70_37 -1 known missense c.1910 p.S637F 0.969 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC BEND3 57673 genome.wustl.edu 37 6 107419870 107419870 + Missense_Mutation SNP T T C TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 6 107419870 107419870 T C SNP BEND3 ENST00000369042 human ensembl 70_37 -1 known missense c.125 p.H42R 0.925 NULL pfam_BEN_domain - no_errors BEND3 HGNC BICD2 23299 genome.wustl.edu 37 9 95481438 95481438 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 9 95481438 95481438 C T SNP BICD2 ENST00000356884 human ensembl 70_37 -1 known missense c.1489 p.E497K 0.999 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC BORA 79866 genome.wustl.edu 37 13 73320995 73320995 + Nonsense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 13 73320995 73320995 C T SNP BORA ENST00000390667 human ensembl 70_37 +1 known nonsense c.1228 p.Q410* 0.072 NULL prints_Aurora_borealis_protien - no_errors BORA HGNC CCDC180 100499483 genome.wustl.edu 37 9 100075523 100075523 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 9 100075523 100075523 G A SNP C9orf174 ENST00000375202 human ensembl 70_37 +1 known missense c.487 p.E163K 0.691 NULL NULL - no_errors C9orf174 HGNC CA11 770 genome.wustl.edu 37 19 49142303 49142303 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 19 49142303 49142303 G A SNP CA11 ENST00000084798 human ensembl 70_37 -1 known missense c.803 p.S268F 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA11 HGNC CACNA1C 775 genome.wustl.edu 37 12 2602389 2602389 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 12 2602389 2602389 C T SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known missense c.950 p.A317V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC CACNB1 782 genome.wustl.edu 37 17 37353713 37353713 + Nonsense_Mutation SNP G G T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 17 37353713 37353713 G T SNP CACNB1 ENST00000394303 human ensembl 70_37 -1 known nonsense c.36 p.Y12* 1.000 prints_VDCC_L_b1su pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su - no_errors CACNB1 HGNC CAMTA1 23261 genome.wustl.edu 37 1 7723699 7723699 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 7723699 7723699 C T SNP CAMTA1 ENST00000303635 human ensembl 70_37 +1 known silent c.1092 p.S364 0.996 NULL pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC CCDC37 348807 genome.wustl.edu 37 3 126151924 126151924 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 126151924 126151924 C T SNP CCDC37 ENST00000393425 human ensembl 70_37 +1 known silent c.1302 p.V434 0.973 superfamily_SuperAg_toxin_C_Staph/Strep superfamily_SuperAg_toxin_C_Staph/Strep - no_errors CCDC37 HGNC CCDC63 160762 genome.wustl.edu 37 12 111291255 111291255 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 12 111291255 111291255 C T SNP CCDC63 ENST00000308208 human ensembl 70_37 +1 known missense c.56 p.S19L 0.000 NULL NULL - no_errors CCDC63 HGNC CD97 976 genome.wustl.edu 37 19 14513542 14513542 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 19 14513542 14513542 C T SNP CD97 ENST00000242786 human ensembl 70_37 +1 known silent c.1317 p.L439 0.000 prints_GPCR_2_CD97 pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC CDH23 64072 genome.wustl.edu 37 10 73501685 73501685 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 10 73501685 73501685 G A SNP CDH23 ENST00000398792 human ensembl 70_37 +1 known missense c.1312 p.D438N 0.000 smart_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC CDK13 8621 genome.wustl.edu 37 7 40132638 40132638 + Nonsense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 7 40132638 40132638 C T SNP CDK13 ENST00000181839 human ensembl 70_37 +1 known nonsense c.3490 p.Q1164* 1.000 NULL pfam_Prot_kinase_cat_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_cat_dom - no_errors CDK13 HGNC CHST5 23563 genome.wustl.edu 37 16 75564065 75564065 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 16 75564065 75564065 G A SNP CHST5 ENST00000541075 human ensembl 70_37 -1 known missense c.236 p.S79L 1.000 pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC CLASP1 23332 genome.wustl.edu 37 2 122139867 122139867 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 122139867 122139867 C T SNP CLASP1 ENST00000263710 human ensembl 70_37 -1 known silent c.3408 p.A1136 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC CMSS1 84319 genome.wustl.edu 37 3 99879313 99879313 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 99879313 99879313 G A SNP CMSS1 ENST00000421999 human ensembl 70_37 +1 known missense c.193 p.E65K 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N - no_errors CMSS1 HGNC COL12A1 1303 genome.wustl.edu 37 6 75898136 75898136 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 6 75898136 75898136 G A SNP COL12A1 ENST00000322507 human ensembl 70_37 -1 known silent c.939 p.I313 0.994 smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC CPED1 79974 genome.wustl.edu 37 7 120768478 120768478 + Missense_Mutation SNP G G C TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 7 120768478 120768478 G C SNP CPED1 ENST00000310396 human ensembl 70_37 +1 known missense c.1345 p.E449Q 0.999 NULL NULL - no_errors CPED1 HGNC CPNE7 27132 genome.wustl.edu 37 16 89650445 89650445 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 16 89650445 89650445 G A SNP CPNE7 ENST00000268720 human ensembl 70_37 +1 known missense c.667 p.E223K 1.000 smart_C2_Ca-dep pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A - no_errors CPNE7 HGNC CROCCP2 84809 genome.wustl.edu 37 1 16956889 16956892 + RNA DEL CAGA CAGA - TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 CAGA CAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 16956889 16956892 CAGA - DEL CROCCP2 ENST00000362058 human ensembl 70_37 -1 known rna NULL NULL 0.064:0.065:0.068:0.074 - - - no_errors CROCCP2 HGNC CSMD2 114784 genome.wustl.edu 37 1 34192168 34192168 + Silent SNP G G T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 34192168 34192168 G T SNP CSMD2 ENST00000373381 human ensembl 70_37 -1 known silent c.2487 p.P829 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC CUL7 9820 genome.wustl.edu 37 6 43010606 43010606 + Missense_Mutation SNP G G T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 6 43010606 43010606 G T SNP CUL7 ENST00000535468 human ensembl 70_37 -1 known missense c.3831 p.F1277L 0.995 pfam_Cullin_N pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC CXorf67 340602 genome.wustl.edu 37 X 51149908 51149908 + Missense_Mutation SNP C C A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 51149908 51149908 C A SNP CXorf67 ENST00000342995 human ensembl 70_37 +1 known missense c.40 p.Q14K 0.000 NULL NULL - no_errors CXorf67 HGNC CYP19A1 1588 genome.wustl.edu 37 15 51503070 51503070 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 15 51503070 51503070 C T SNP CYP19A1 ENST00000260433 human ensembl 70_37 -1 known missense c.1447 p.E483K 0.996 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP19A1 HGNC DDI2 84301 genome.wustl.edu 37 1 15959933 15959933 + Splice_Site SNP G G T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 15959933 15959933 G T SNP DDI2 ENST00000480945 human ensembl 70_37 +1 known splice_site c.506-1 e4-1 1.000 - - - no_errors DDI2 HGNC DIDO1 11083 genome.wustl.edu 37 20 61510621 61510621 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 20 61510621 61510621 C T SNP DIDO1 ENST00000266070 human ensembl 70_37 -1 known silent c.6687 p.S2229 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC DNAJB12 54788 genome.wustl.edu 37 10 74103225 74103225 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 10 74103225 74103225 C T SNP DNAJB12 ENST00000338820 human ensembl 70_37 -1 known missense c.458 p.R153K 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB12 HGNC DYNLRB1 83658 genome.wustl.edu 37 20 33128394 33128394 + Missense_Mutation SNP A A G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 20 33128394 33128394 A G SNP DYNLRB1 ENST00000357156 human ensembl 70_37 +1 known missense c.257 p.Y86C 1.000 pfam_Dynein_light-rel,smart_Dynein_light-rel,pirsf_Dynein_light_roadblock-type pfam_Dynein_light-rel,smart_Dynein_light-rel,pirsf_Dynein_light_roadblock-type - no_errors DYNLRB1 HGNC EIF5B 9669 genome.wustl.edu 37 2 100011189 100011189 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 100011189 100011189 G A SNP EIF5B ENST00000289371 human ensembl 70_37 +1 known missense c.3097 p.V1033I 1.000 pfam_TIF_IF2_dom3,superfamily_TIF_IF2_dom3 pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000221447 0 genome.wustl.edu 37 1 48086767 48086768 + RNA INS - - TCTA TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 48086767 48086768 - TCTA INS ENSG00000221447 ENST00000408520 human ensembl 70_37 -1 novel rna NULL NULL 0.002:0.000 - - - no_errors AL591415.1 Clone_based_ensembl_gene ENSG00000223779 0 genome.wustl.edu 37 1 149265408 149265411 + RNA DEL TTTG TTTG - TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 TTTG TTTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 149265408 149265411 TTTG - DEL ENSG00000223779 ENST00000325963 human ensembl 70_37 +1 known rna NULL NULL 0.054:0.053:0.077:0.148 - - - no_errors RP11-403I13.4 Clone_based_vega_gene ENSG00000236233 0 genome.wustl.edu 37 9 67793766 67793766 + RNA DEL A A - TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 9 67793766 67793766 A - DEL ENSG00000236233 ENST00000315762 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors RP11-12A20.7 Clone_based_vega_gene ETV4 2118 genome.wustl.edu 37 17 41610668 41610668 + Silent SNP A A G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 17 41610668 41610668 A G SNP ETV4 ENST00000319349 human ensembl 70_37 -1 known silent c.432 p.G144 0.894 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV4 HGNC FOXM1 2305 genome.wustl.edu 37 12 2983505 2983505 + Missense_Mutation SNP G G C TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 12 2983505 2983505 G C SNP FOXM1 ENST00000342628 human ensembl 70_37 -1 known missense c.140 p.S47C 0.980 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC FSCN1 6624 genome.wustl.edu 37 7 5642988 5642988 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 7 5642988 5642988 G A SNP FSCN1 ENST00000382361 human ensembl 70_37 +1 known silent c.933 p.T311 0.999 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN1 HGNC GBX2 2637 genome.wustl.edu 37 2 237076492 237076492 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 237076492 237076492 G A SNP GBX2 ENST00000306318 human ensembl 70_37 -1 known silent c.123 p.Y41 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors GBX2 HGNC GCN1L1 10985 genome.wustl.edu 37 12 120600928 120600928 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 12 120600928 120600928 C T SNP GCN1L1 ENST00000300648 human ensembl 70_37 -1 known missense c.1984 p.D662N 0.695 pfam_DUF3554,superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC GPR142 350383 genome.wustl.edu 37 17 72368270 72368270 + Missense_Mutation SNP G G C TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 17 72368270 72368270 G C SNP GPR142 ENST00000335666 human ensembl 70_37 +1 known missense c.920 p.R307T 0.841 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR142 HGNC GPR149 344758 genome.wustl.edu 37 3 154139158 154139158 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 154139158 154139158 C T SNP GPR149 ENST00000389740 human ensembl 70_37 -1 known missense c.1293 p.M431I 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC GRIN1 2902 genome.wustl.edu 37 9 140053108 140053108 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 9 140053108 140053108 C T SNP GRIN1 ENST00000371561 human ensembl 70_37 +1 known silent c.1149 p.G383 0.657 NULL pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN1 HGNC MROH2B 133558 genome.wustl.edu 37 5 41069835 41069835 + Missense_Mutation SNP G G T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 5 41069835 41069835 G T SNP HEATR7B2 ENST00000399564 human ensembl 70_37 -1 known missense c.48 p.N16K 1.000 NULL superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC HERC2 8924 genome.wustl.edu 37 15 28437168 28437168 + Missense_Mutation SNP T T C TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 15 28437168 28437168 T C SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known missense c.8390 p.Q2797R 1.000 superfamily_Galactose-bd-like pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC HLCS 3141 genome.wustl.edu 37 21 38128952 38128952 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 21 38128952 38128952 C T SNP HLCS ENST00000336648 human ensembl 70_37 -1 known missense c.1900 p.D634N 0.318 tigrfam_Biotin_CoA_COase_ligase pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase - no_errors HLCS HGNC HTATSF1 27336 genome.wustl.edu 37 X 135585077 135585077 + Missense_Mutation SNP G G C TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 135585077 135585077 G C SNP HTATSF1 ENST00000218364 human ensembl 70_37 +1 known missense c.711 p.K237N 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HTATSF1 HGNC IDS 3423 genome.wustl.edu 37 X 148579754 148579754 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 148579754 148579754 C T SNP IDS ENST00000340855 human ensembl 70_37 -1 known missense c.592 p.D198N 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC IMPDH1 3614 genome.wustl.edu 37 7 128040436 128040436 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 7 128040436 128040436 C T SNP IMPDH1 ENST00000338791 human ensembl 70_37 -1 known missense c.737 p.R246Q 1.000 pfam_IMP_DH_GMPRt,pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core,tigrfam_IMP_DH pfam_IMP_DH_GMPRt,pfam_Cysta_beta_synth_core,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_Cysta_beta_synth_core,tigrfam_IMP_DH - no_errors IMPDH1 HGNC INF2 64423 genome.wustl.edu 37 14 105179925 105179925 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 14 105179925 105179925 C T SNP INF2 ENST00000392634 human ensembl 70_37 +1 known missense c.3022 p.P1008S 0.001 NULL pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_WH2_dom,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,pfscan_WH2_dom - no_errors INF2 HGNC IRX1 79192 genome.wustl.edu 37 5 3599344 3599344 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 5 3599344 3599344 G A SNP IRX1 ENST00000302006 human ensembl 70_37 +1 known silent c.282 p.S94 0.030 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX1 HGNC JARID2 3720 genome.wustl.edu 37 6 15501191 15501191 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 6 15501191 15501191 G A SNP JARID2 ENST00000341776 human ensembl 70_37 +1 known missense c.1999 p.G667S 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC KCP 375616 genome.wustl.edu 37 7 128531841 128531841 + RNA SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 7 128531841 128531841 C T SNP KCP ENST00000257704 human ensembl 70_37 -1 known rna NULL NULL 0.945 - - - no_errors KCP HGNC KDM3A 55818 genome.wustl.edu 37 2 86718287 86718287 + Missense_Mutation SNP C C G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 86718287 86718287 C G SNP KDM3A ENST00000312912 human ensembl 70_37 +1 known missense c.3774 p.I1258M 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC KIAA1009 22832 genome.wustl.edu 37 6 84913752 84913752 + Nonsense_Mutation SNP C C A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 6 84913752 84913752 C A SNP KIAA1009 ENST00000403245 human ensembl 70_37 -1 known nonsense c.634 p.E212* 1.000 NULL NULL - no_errors KIAA1009 HGNC KIAA1211 57482 genome.wustl.edu 37 4 57180592 57180592 + Frame_Shift_Del DEL T T - TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 4 57180592 57180592 T - DEL KIAA1211 ENST00000504228 human ensembl 70_37 +1 known frame_shift_del c.924 p.E309fs 0.000 NULL NULL - no_errors KIAA1211 HGNC KIAA1211 57482 genome.wustl.edu 37 4 57180594 57180595 + Frame_Shift_Ins INS - - G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 4 57180594 57180595 - G INS KIAA1211 ENST00000504228 human ensembl 70_37 +1 known frame_shift_ins c.926_927 p.E310fs 0.011:0.002 NULL NULL - no_errors KIAA1211 HGNC KLHL13 90293 genome.wustl.edu 37 X 117162393 117162393 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 117162393 117162393 C T SNP KLHL13 ENST00000540167 human ensembl 70_37 -1 known missense c.44 p.R15H 0.996 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL13 HGNC LAMA5 3911 genome.wustl.edu 37 20 60909651 60909651 + Missense_Mutation SNP G G T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 20 60909651 60909651 G T SNP LAMA5 ENST00000252999 human ensembl 70_37 -1 known missense c.2509 p.L837M 0.642 pfam_EGF_laminin,smart_EGF_laminin 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 LILRA3 11026 genome.wustl.edu 37 19 54802507 54802507 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 19 54802507 54802507 C T SNP LILRA3 ENST00000251390 human ensembl 70_37 -1 known missense c.934 p.D312N 0.038 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA3 HGNC LOC100128164 100128164 genome.wustl.edu 37 3 169664440 169664440 + RNA SNP C C G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 169664440 169664440 C G SNP LOC100128164 ENST00000483289 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-379K17.4 Clone_based_vega_gene LOC100506469 100506469 genome.wustl.edu 37 19 36035943 36035943 + RNA SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 19 36035943 36035943 G A SNP LOC100506469 ENST00000588286 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AD000090.2 Clone_based_vega_gene LOC100506469 100506469 genome.wustl.edu 37 19 36035944 36035944 + RNA SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 19 36035944 36035944 G A SNP LOC100506469 ENST00000588286 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AD000090.2 Clone_based_vega_gene LOC101060483 101060483 genome.wustl.edu 37 14 19856372 19856372 + RNA SNP A A G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 14 19856372 19856372 A G SNP LOC101060483 ENST00000551334 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene LPHN3 23284 genome.wustl.edu 37 4 62599062 62599062 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 4 62599062 62599062 G A SNP LPHN3 ENST00000507625 human ensembl 70_37 +1 known missense c.1189 p.D397N 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC MAGEA9B 728269 genome.wustl.edu 37 X 148664667 148664667 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 148664667 148664667 G A SNP MAGEA9B ENST00000243314 human ensembl 70_37 -1 known missense c.169 p.P57S 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA9B HGNC MAGEB1 4112 genome.wustl.edu 37 X 30269339 30269339 + Missense_Mutation SNP G G C TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 30269339 30269339 G C SNP MAGEB1 ENST00000378981 human ensembl 70_37 +1 known missense c.729 p.K243N 0.007 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC MAGEC1 9947 genome.wustl.edu 37 X 140993233 140993234 + Frame_Shift_Ins INS - - A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 140993233 140993234 - A INS MAGEC1 ENST00000285879 human ensembl 70_37 +1 known frame_shift_ins c.43_44 p.L15fs 0.000:0.001 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC MAGEC3 139081 genome.wustl.edu 37 X 140984701 140984701 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 140984701 140984701 C T SNP MAGEC3 ENST00000298296 human ensembl 70_37 +1 known missense c.1157 p.P386L 0.003 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC MAP4 4134 genome.wustl.edu 37 3 47958076 47958076 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 47958076 47958076 G A SNP MAP4 ENST00000360240 human ensembl 70_37 -1 known missense c.1241 p.S414L 0.153 NULL pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP4 HGNC MAPK12 6300 genome.wustl.edu 37 22 50694089 50694089 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 22 50694089 50694089 C T SNP MAPK12 ENST00000215659 human ensembl 70_37 -1 known silent c.726 p.T242 0.296 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_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_cat_dom,prints_MAPK_p38 - no_errors MAPK12 HGNC MAPK6 5597 genome.wustl.edu 37 15 52356491 52356491 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 15 52356491 52356491 C T SNP MAPK6 ENST00000261845 human ensembl 70_37 +1 known missense c.1460 p.S487F 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_ERK3/4,pfscan_Prot_kinase_cat_dom - no_errors MAPK6 HGNC MED12L 116931 genome.wustl.edu 37 3 150883767 150883767 + Missense_Mutation SNP G G C TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 150883767 150883767 G C SNP MED12L ENST00000474524 human ensembl 70_37 +1 known missense c.1492 p.E498Q 1.000 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC MS4A15 219995 genome.wustl.edu 37 11 60541372 60541372 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 11 60541372 60541372 G A SNP MS4A15 ENST00000405633 human ensembl 70_37 +1 known silent c.561 p.A187 0.040 NULL pfam_CD20-like - no_errors MS4A15 HGNC MUC5B 727897 genome.wustl.edu 37 11 1281216 1281216 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 11 1281216 1281216 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.16833 p.S5611 0.028 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,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 MUC5B HGNC MXRA5 25878 genome.wustl.edu 37 X 3238158 3238158 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 3238158 3238158 G A SNP MXRA5 ENST00000217939 human ensembl 70_37 -1 known silent c.5568 p.L1856 0.792 pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC NBPF8 728841 genome.wustl.edu 37 1 144618251 144618251 + RNA SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 144618251 144618251 G A SNP NBPF8 ENST00000421407 human ensembl 70_37 +1 known rna NULL NULL 0.059 - - - no_errors NBPF8 HGNC NHS 4810 genome.wustl.edu 37 X 17744357 17744357 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 17744357 17744357 G A SNP NHS ENST00000380060 human ensembl 70_37 +1 known missense c.2068 p.D690N 1.000 NULL NULL - no_errors NHS HGNC NOL10 79954 genome.wustl.edu 37 2 10729803 10729803 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 10729803 10729803 C T SNP NOL10 ENST00000381685 human ensembl 70_37 -1 known silent c.1497 p.E499 1.000 pfam_NUC153 pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors NOL10 HGNC NUP188 23511 genome.wustl.edu 37 9 131752436 131752436 + Silent SNP A A G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 9 131752436 131752436 A G SNP NUP188 ENST00000372577 human ensembl 70_37 +1 known silent c.2571 p.K857 0.998 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC OR4C15 81309 genome.wustl.edu 37 11 55322729 55322729 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 11 55322729 55322729 C T SNP OR4C15 ENST00000314644 human ensembl 70_37 +1 known missense c.947 p.S316F 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC OR7G1 125962 genome.wustl.edu 37 19 9225565 9225565 + Missense_Mutation SNP A A G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 19 9225565 9225565 A G SNP OR7G1 ENST00000293614 human ensembl 70_37 -1 known missense c.875 p.L292P 1.000 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G1 HGNC P2RX6 9127 genome.wustl.edu 37 22 21377259 21377259 + Missense_Mutation SNP C C G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 22 21377259 21377259 C G SNP P2RX6 ENST00000413302 human ensembl 70_37 +1 known missense c.492 p.F164L 0.288 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X6_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX6 HGNC PBX3 5090 genome.wustl.edu 37 9 128723096 128723096 + Missense_Mutation SNP A A G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 9 128723096 128723096 A G SNP PBX3 ENST00000373489 human ensembl 70_37 +1 known missense c.977 p.N326S 1.000 NULL pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PBX3 HGNC PCDH15 65217 genome.wustl.edu 37 10 55600127 55600127 + Silent SNP T T C TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 10 55600127 55600127 T C SNP PCDH15 ENST00000320301 human ensembl 70_37 -1 known silent c.3936 p.A1312 0.989 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC PCDHB3 56132 genome.wustl.edu 37 5 140481518 140481518 + Missense_Mutation SNP C C A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 5 140481518 140481518 C A SNP PCDHB3 ENST00000231130 human ensembl 70_37 +1 known missense c.1285 p.P429T 0.992 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC PCYT1A 5130 genome.wustl.edu 37 3 195965567 195965567 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 195965567 195965567 C T SNP PCYT1A ENST00000292823 human ensembl 70_37 -1 known missense c.1096 p.E366K 1.000 NULL pfam_Cytidylyltransf,superfamily_NA-bd_OB-fold-like,tigrfam_Cyt_trans-like - no_errors PCYT1A HGNC PDZRN4 29951 genome.wustl.edu 37 12 41967170 41967170 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 12 41967170 41967170 C T SNP PDZRN4 ENST00000402685 human ensembl 70_37 +1 known silent c.2589 p.V863 0.992 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC PIGO 84720 genome.wustl.edu 37 9 35093126 35093126 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 9 35093126 35093126 G A SNP PIGO ENST00000341666 human ensembl 70_37 -1 known silent c.1020 p.I340 0.378 superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC POM121L9P 29774 genome.wustl.edu 37 22 24659933 24659933 + RNA SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 22 24659933 24659933 C T SNP POM121L9P ENST00000414583 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors POM121L9P HGNC PTGER3 5733 genome.wustl.edu 37 1 71418672 71418672 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 71418672 71418672 C T SNP PTGER3 ENST00000356595 human ensembl 70_37 -1 known missense c.1175 p.R392H 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC PTPRB 5787 genome.wustl.edu 37 12 70983807 70983807 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 12 70983807 70983807 C T SNP PTPRB ENST00000334414 human ensembl 70_37 -1 known missense c.1987 p.E663K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC PZP 5858 genome.wustl.edu 37 12 9321533 9321533 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 12 9321533 9321533 C T SNP PZP ENST00000261336 human ensembl 70_37 -1 known missense c.2039 p.R680Q 0.000 NULL 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 RAB11FIP5 26056 genome.wustl.edu 37 2 73302590 73302590 + RNA SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 73302590 73302590 G A SNP RAB11FIP5 ENST00000493523 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RAB11FIP5 HGNC RAD17 5884 genome.wustl.edu 37 5 68666944 68666944 + RNA SNP T T C TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 5 68666944 68666944 T C SNP RAD17 ENST00000504177 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RAD17 HGNC RAET1K 646024 genome.wustl.edu 37 6 150322552 150322552 + RNA SNP C C G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 6 150322552 150322552 C G SNP RAET1K ENST00000533735 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RAET1K HGNC RAET1K 646024 genome.wustl.edu 37 6 150322616 150322616 + RNA SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 6 150322616 150322616 C T SNP RAET1K ENST00000533735 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RAET1K HGNC RBMS1 5937 genome.wustl.edu 37 2 161130979 161130982 + RNA DEL TTTC TTTC - TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 TTTC TTTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 161130979 161130982 TTTC - DEL RBMS1 ENST00000474820 human ensembl 70_37 -1 known rna NULL NULL 0.121:0.138:0.129:0.057 - - - no_errors RBMS1 HGNC RHOT2 89941 genome.wustl.edu 37 16 720883 720883 + RNA SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 16 720883 720883 C T SNP RHOT2 ENST00000569943 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RHOT2 HGNC RPE65 6121 genome.wustl.edu 37 1 68896859 68896859 + Missense_Mutation SNP G G T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 68896859 68896859 G T SNP RPE65 ENST00000262340 human ensembl 70_37 -1 known missense c.1339 p.L447I 0.996 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors RPE65 HGNC S100A3 6274 genome.wustl.edu 37 1 153520280 153520280 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 153520280 153520280 G A SNP S100A3 ENST00000368712 human ensembl 70_37 -1 known silent c.184 p.L62 0.543 NULL pfam_S100_Ca-bd_sub - no_errors S100A3 HGNC SAP130 79595 genome.wustl.edu 37 2 128747378 128747378 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 128747378 128747378 C T SNP SAP130 ENST00000357702 human ensembl 70_37 -1 known missense c.1618 p.V540I 1.000 NULL NULL - no_errors SAP130 HGNC SASH3 54440 genome.wustl.edu 37 X 128922006 128922006 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 128922006 128922006 C T SNP SASH3 ENST00000356892 human ensembl 70_37 +1 known missense c.113 p.S38F 1.000 pfam_rSAM/SH3_domain-containing pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH3 HGNC SEMA4A 64218 genome.wustl.edu 37 1 156126335 156126335 + Missense_Mutation SNP G G T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 156126335 156126335 G T SNP SEMA4A ENST00000355014 human ensembl 70_37 +1 known missense c.270 p.Q90H 0.144 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4A HGNC SETD5 55209 genome.wustl.edu 37 3 9515122 9515122 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 9515122 9515122 C T SNP SETD5 ENST00000402198 human ensembl 70_37 +1 known missense c.3398 p.S1133F 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC SFTPD 6441 genome.wustl.edu 37 10 81701751 81701751 + Missense_Mutation SNP A A G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 10 81701751 81701751 A G SNP SFTPD ENST00000372292 human ensembl 70_37 -1 known missense c.509 p.V170A 0.000 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,pfam_Surfac_D-trimer,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPD HGNC SIGLEC12 89858 genome.wustl.edu 37 19 52002702 52002702 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 19 52002702 52002702 G A SNP SIGLEC12 ENST00000291707 human ensembl 70_37 -1 known silent c.1077 p.L359 0.061 smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC12 HGNC SIGLEC12 89858 genome.wustl.edu 37 19 52002798 52002798 + Silent SNP G G C TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 19 52002798 52002798 G C SNP SIGLEC12 ENST00000291707 human ensembl 70_37 -1 known silent c.981 p.L327 0.007 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC12 HGNC SLC29A3 55315 genome.wustl.edu 37 10 73115968 73115968 + Silent SNP C C G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 10 73115968 73115968 C G SNP SLC29A3 ENST00000373189 human ensembl 70_37 +1 known silent c.741 p.L247 0.924 pfam_Eqnu_transpt,prints_Eqnu_transpt pfam_Eqnu_transpt,prints_Eqnu_transpt - no_errors SLC29A3 HGNC SMC6 79677 genome.wustl.edu 37 2 17897485 17897485 + Nonsense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 17897485 17897485 G A SNP SMC6 ENST00000381272 human ensembl 70_37 -1 known nonsense c.1471 p.Q491* 0.992 NULL NULL - no_errors SMC6 HGNC SND1 27044 genome.wustl.edu 37 7 127725781 127725781 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 7 127725781 127725781 G A SNP SND1 ENST00000354725 human ensembl 70_37 +1 known silent c.2253 p.E751 1.000 pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease - no_errors SND1 HGNC SNORD115-36 100033810 genome.wustl.edu 37 15 25481240 25481240 + RNA SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 15 25481240 25481240 G A SNP SNORD115-36 ENST00000365629 human ensembl 70_37 +1 known rna NULL NULL 0.888 - - - no_errors SNORD115-36 HGNC SPIN1 10927 genome.wustl.edu 37 9 91090483 91090483 + RNA SNP C C A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 9 91090483 91090483 C A SNP SPIN1 ENST00000469017 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors SPIN1 HGNC SPTY2D1 144108 genome.wustl.edu 37 11 18636757 18636757 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 11 18636757 18636757 G A SNP SPTY2D1 ENST00000336349 human ensembl 70_37 -1 known missense c.1064 p.P355L 0.001 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC SULT1A2 6799 genome.wustl.edu 37 16 28606788 28606788 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 16 28606788 28606788 G A SNP SULT1A2 ENST00000534108 human ensembl 70_37 -1 known silent c.357 p.L119 0.080 NULL pfam_Sulfotransferase_dom - no_errors SULT1A2 HGNC SYCP3 50511 genome.wustl.edu 37 12 102131031 102131031 + Missense_Mutation SNP G G T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 12 102131031 102131031 G T SNP SYCP3 ENST00000266743 human ensembl 70_37 -1 known missense c.179 p.A60E 0.002 NULL pfam_Cor1/Xlr/Xmr - no_errors SYCP3 HGNC SYNE2 23224 genome.wustl.edu 37 14 64463825 64463825 + Missense_Mutation SNP C C G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 14 64463825 64463825 C G SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.3101 p.S1034C 0.374 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC TGFBI 7045 genome.wustl.edu 37 5 135382984 135382984 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 5 135382984 135382984 C T SNP TGFBI ENST00000305126 human ensembl 70_37 +1 known missense c.646 p.R216W 0.934 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors TGFBI HGNC TGFBR2 7048 genome.wustl.edu 37 3 30715678 30715678 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 3 30715678 30715678 G A SNP TGFBR2 ENST00000359013 human ensembl 70_37 +1 known missense c.1411 p.D471N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Transform_growth_fac-b_typ-2,pfscan_Prot_kinase_cat_dom pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom - no_errors TGFBR2 HGNC TIPIN 54962 genome.wustl.edu 37 15 66671709 66671709 + RNA SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 15 66671709 66671709 G A SNP TIPIN ENST00000561773 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors TIPIN HGNC TPP2 7174 genome.wustl.edu 37 13 103257239 103257239 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 13 103257239 103257239 G A SNP TPP2 ENST00000376065 human ensembl 70_37 +1 known missense c.262 p.E88K 1.000 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC TRAPPC10 7109 genome.wustl.edu 37 21 45499971 45499971 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 21 45499971 45499971 G A SNP TRAPPC10 ENST00000291574 human ensembl 70_37 +1 known silent c.1686 p.E562 1.000 NULL NULL - no_errors TRAPPC10 HGNC TRIM21 6737 genome.wustl.edu 37 11 4406540 4406540 + Frame_Shift_Del DEL C C - TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 11 4406540 4406540 C - DEL TRIM21 ENST00000254436 human ensembl 70_37 -1 known frame_shift_del c.1403 p.G468fs 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM21 HGNC TSPEAR 54084 genome.wustl.edu 37 21 45953680 45953680 + Nonsense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 21 45953680 45953680 G A SNP TSPEAR ENST00000323084 human ensembl 70_37 -1 known nonsense c.430 p.R144* 0.101 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC TTN 7273 genome.wustl.edu 37 2 179456782 179456782 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 179456782 179456782 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.52145 p.R17382Q 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TXN2 25828 genome.wustl.edu 37 22 36863839 36863839 + RNA SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 22 36863839 36863839 C T SNP TXN2 ENST00000487725 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TXN2 HGNC UBA1 7317 genome.wustl.edu 37 X 47060913 47060913 + Nonsense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 47060913 47060913 C T SNP UBA1 ENST00000335972 human ensembl 70_37 +1 known nonsense c.715 p.R239* 1.000 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA1 HGNC UBE2Z 65264 genome.wustl.edu 37 17 46998528 46998528 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 17 46998528 46998528 C T SNP UBE2Z ENST00000360943 human ensembl 70_37 +1 known missense c.697 p.H233Y 1.000 superfamily_UBQ-conjugating_enzyme/RWD pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Z HGNC UBR5 51366 genome.wustl.edu 37 8 103335715 103335715 + Missense_Mutation SNP C C G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 8 103335715 103335715 C G SNP UBR5 ENST00000520539 human ensembl 70_37 -1 known missense c.1608 p.L536F 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC WDR90 197335 genome.wustl.edu 37 16 709007 709007 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 16 709007 709007 G A SNP WDR90 ENST00000549091 human ensembl 70_37 +1 novel missense c.3007 p.E1003K 0.108 NULL pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC WLS 79971 genome.wustl.edu 37 1 68591956 68591956 + Missense_Mutation SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 1 68591956 68591956 C T SNP WLS ENST00000262348 human ensembl 70_37 -1 known missense c.1579 p.G527R 1.000 NULL NULL - no_errors WLS HGNC XIRP2 129446 genome.wustl.edu 37 2 168115287 168115287 + Missense_Mutation SNP C C A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 168115287 168115287 C A SNP XIRP2 ENST00000420519 human ensembl 70_37 +1 known missense c.2330 p.A777E 0.568 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC XIST 7503 genome.wustl.edu 37 X 73071972 73071972 + RNA SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 73071972 73071972 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.994 - - - no_errors XIST HGNC YPEL1 29799 genome.wustl.edu 37 22 22055456 22055456 + Missense_Mutation SNP C C G TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 22 22055456 22055456 C G SNP YPEL1 ENST00000339468 human ensembl 70_37 -1 known missense c.322 p.E108Q 1.000 pfam_Yippee pfam_Yippee - no_errors YPEL1 HGNC ZAN 7455 genome.wustl.edu 37 7 100344303 100344303 + Silent SNP C C T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 7 100344303 100344303 C T SNP ZAN ENST00000546292 human ensembl 70_37 +1 known silent c.909 p.L303 0.001 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ZNF711 7552 genome.wustl.edu 37 X 84502592 84502592 + Missense_Mutation SNP G G T TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 X 84502592 84502592 G T SNP ZNF711 ENST00000276123 human ensembl 70_37 +1 known missense c.14 p.G5V 1.000 NULL pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ZNF804A 91752 genome.wustl.edu 37 2 185800685 185800685 + Missense_Mutation SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7e823717-75d0-4121-9743-ba735bd6832f a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410 2 185800685 185800685 G A SNP ZNF804A ENST00000302277 human ensembl 70_37 +1 known missense c.562 p.E188K 0.997 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC