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 AADACL2 0 genome.wustl.edu 37 3 151451910 151451910 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 151451910 151451910 A C SNP AADACL2 ENST00000356517 human ensembl 74_37 +1 known missense c.87 p.E29D 0.856 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase - no_errors AADACL2 HGNC ENSG00000197953 tier1 - - 97 0 0.00 64 27 29.67 ABCA13 0 genome.wustl.edu 37 7 48284211 48284211 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 48284211 48284211 A C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.1301 p.N434T 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 76 0 0.00 72 9 11.11 ABI1 0 genome.wustl.edu 37 10 27065984 27065984 + RNA SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 10 27065984 27065984 A G SNP ABI1 ENST00000473481 human ensembl 74_37 -1 known rna NULL NULL 0.556 - - - no_errors ABI1 HGNC ENSG00000136754 tier1 - - 139 0 0.00 133 18 11.92 ACAA2 0 genome.wustl.edu 37 18 47317959 47317959 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 18 47317959 47317959 T C SNP ACAA2 ENST00000285093 human ensembl 74_37 -1 known missense c.764 p.D255G 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAA2 HGNC ENSG00000167315 tier1 - - 138 0 0.00 94 9 8.74 ACADM 0 genome.wustl.edu 37 1 76226965 76226965 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 76226965 76226965 A C SNP ACADM ENST00000420607 human ensembl 74_37 +1 known missense c.1116 p.L372F 0.915 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADM HGNC ENSG00000117054 tier1 - - 158 0 0.00 139 14 9.15 ADAM18 0 genome.wustl.edu 37 8 39466563 39466563 + Nonsense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 39466563 39466563 C A SNP ADAM18 ENST00000265707 human ensembl 74_37 +1 known nonsense c.191 p.S64* 0.877 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM18 HGNC ENSG00000168619 tier1 - - 53 0 0.00 40 11 21.57 ADAM2 0 genome.wustl.edu 37 8 39626980 39626981 + Frame_Shift_Ins INS - - A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 39626980 39626981 - A INS ADAM2 ENST00000265708 human ensembl 74_37 -1 known frame_shift_ins c.1143_1142 p.K382fs 0.187:0.213 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 tier1 60 0 0.00 62 10 13.89 AFF3 0 genome.wustl.edu 37 2 100625366 100625366 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 100625366 100625366 G A SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.157 p.R53W 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 tier1 - - 37 0 0.00 39 7 15.22 AHNAK 0 genome.wustl.edu 37 11 62286317 62286317 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 62286317 62286317 G A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.15572 p.A5191V 0.939 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 73 0 0.00 72 15 17.05 AIM1 0 genome.wustl.edu 37 6 106973142 106973142 + Splice_Site SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 106973142 106973142 G A SNP AIM1 ENST00000369066 human ensembl 74_37 +1 known splice_site c.3070-1 e4-1 1.000 - - - no_errors AIM1 HGNC ENSG00000112297 tier1 - - 325 0 0.00 190 10 5.00 AIM2 0 genome.wustl.edu 37 1 159036059 159036059 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 159036059 159036059 A G SNP AIM2 ENST00000368130 human ensembl 74_37 -1 known missense c.457 p.C153R 0.000 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_NA-bd_OB-fold,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors AIM2 HGNC ENSG00000163568 tier1 - - 155 0 0.00 148 19 11.38 AKAP6 0 genome.wustl.edu 37 14 33293355 33293355 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 33293355 33293355 C T SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known silent c.6336 p.Y2112 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 tier1 - - 119 0 0.00 101 11 9.82 AKAP9 0 genome.wustl.edu 37 7 91632182 91632182 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 91632182 91632182 A C SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.2987 p.K996T 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 tier1 - - 99 0 0.00 132 8 5.71 AKR1D1 0 genome.wustl.edu 37 7 137776528 137776528 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 137776528 137776528 T C SNP AKR1D1 ENST00000242375 human ensembl 74_37 +1 known silent c.276 p.N92 0.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1D1 HGNC ENSG00000122787 tier1 - - 101 0 0.00 81 23 21.90 AKT3 0 genome.wustl.edu 37 1 243809287 243809287 + Nonsense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 243809287 243809287 C A SNP AKT3 ENST00000263826 human ensembl 74_37 -1 known nonsense c.337 p.E113* 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT3 HGNC ENSG00000117020 tier1 - - 74 0 0.00 112 7 5.88 ALK 0 genome.wustl.edu 37 2 29420411 29420411 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 29420411 29420411 G T SNP ALK ENST00000389048 human ensembl 74_37 -1 known missense c.4070 p.P1357H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 tier1 - - 143 0 0.00 60 52 46.43 AMPD1 0 genome.wustl.edu 37 1 115218568 115218568 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 115218568 115218568 A T SNP AMPD1 ENST00000520113 human ensembl 74_37 -1 known missense c.1544 p.I515N 1.000 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 tier1 - - 187 0 0.00 117 16 12.03 ANGPT4 0 genome.wustl.edu 37 20 855036 855036 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 855036 855036 G T SNP ANGPT4 ENST00000381922 human ensembl 74_37 -1 known missense c.1242 p.S414R 0.329 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 ANGPT4 HGNC ENSG00000101280 tier1 rs145865328 - 163 0 0.00 118 63 34.43 ANK2 0 genome.wustl.edu 37 4 114158238 114158238 + Silent SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 114158238 114158238 G T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known silent c.579 p.L193 1.000 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 - - 269 0 0.00 102 95 48.22 ANK2 0 genome.wustl.edu 37 4 114251488 114251488 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 114251488 114251488 G T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.2987 p.R996L 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 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 - - 67 0 0.00 27 16 37.21 ANKRD13A 0 genome.wustl.edu 37 12 110466443 110466443 + Nonsense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 110466443 110466443 C T SNP ANKRD13A ENST00000261739 human ensembl 74_37 +1 known nonsense c.1072 p.Q358* 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13A HGNC ENSG00000076513 tier1 - - 127 0 0.00 65 55 45.83 ANKRD30B 0 genome.wustl.edu 37 18 14852079 14852079 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 18 14852079 14852079 T G SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known missense c.3779 p.V1260G 0.127 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 tier1 - - 34 0 0.00 29 5 14.71 ANKRD55 0 genome.wustl.edu 37 5 55422885 55422885 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 55422885 55422885 G T SNP ANKRD55 ENST00000341048 human ensembl 74_37 -1 known missense c.661 p.P221T 0.603 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 - no_errors ANKRD55 HGNC ENSG00000164512 tier1 - - 140 0 0.00 88 28 24.14 ANKS4B 0 genome.wustl.edu 37 16 21245137 21245137 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 21245137 21245137 C A SNP ANKS4B ENST00000311620 human ensembl 74_37 +1 known missense c.79 p.L27I 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom 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 - no_errors ANKS4B HGNC ENSG00000175311 tier1 - - 212 0 0.00 258 14 5.13 ANXA9 0 genome.wustl.edu 37 1 150957153 150957153 + Splice_Site SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 150957153 150957153 G C SNP ANXA9 ENST00000368947 human ensembl 74_37 +1 known splice_site c.472+1 e5+1 0.756 - - - no_errors ANXA9 HGNC ENSG00000143412 tier1 - - 53 0 0.00 66 9 12.00 APLNR 0 genome.wustl.edu 37 11 57003369 57003369 + Silent SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 57003369 57003369 G T SNP APLNR ENST00000257254 human ensembl 74_37 -1 known silent c.1110 p.I370 0.990 prints_APJ_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors APLNR HGNC ENSG00000134817 tier1 - - 118 0 0.00 43 32 42.67 APPBP2 0 genome.wustl.edu 37 17 58529358 58529358 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 58529358 58529358 G T SNP APPBP2 ENST00000083182 human ensembl 74_37 -1 known missense c.1387 p.L463I 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors APPBP2 HGNC ENSG00000062725 tier1 - - 109 0 0.00 87 44 33.59 AQP12B 0 genome.wustl.edu 37 2 241621881 241621881 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 241621881 241621881 G T SNP AQP12B ENST00000407834 human ensembl 74_37 -1 known missense c.374 p.A125D 0.104 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP - no_errors AQP12B HGNC ENSG00000185176 tier1 - - 43 0 0.00 23 22 48.89 ARID2 0 genome.wustl.edu 37 12 46211647 46211647 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 46211647 46211647 G A SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known missense c.613 p.A205T 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 tier1 - - 52 0 0.00 32 19 37.25 ARIH1 0 genome.wustl.edu 37 15 72858942 72858942 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 72858942 72858942 G A SNP ARIH1 ENST00000379887 human ensembl 74_37 +1 known missense c.950 p.C317Y 1.000 pfam_Znf_C6HC,smart_Znf_C6HC,smart_Znf_RING pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH1 HGNC ENSG00000166233 tier1 - - 151 0 0.00 103 11 9.65 ARMC3 0 genome.wustl.edu 37 10 23248490 23248490 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 10 23248490 23248490 A T SNP ARMC3 ENST00000298032 human ensembl 74_37 +1 known missense c.524 p.Y175F 1.000 pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 tier1 - - 67 0 0.00 49 11 18.33 ASAP1 0 genome.wustl.edu 37 8 131138264 131138264 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 131138264 131138264 C G SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.1453 p.G485R 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 tier1 - - 132 0 0.00 161 9 5.29 ASB18 0 genome.wustl.edu 37 2 237123006 237123006 + Missense_Mutation SNP T T A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 237123006 237123006 T A SNP ASB18 ENST00000409749 human ensembl 74_37 -1 known missense c.1100 p.K367M 1.000 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB18 HGNC ENSG00000182177 tier1 - - 12 0 0.00 10 4 28.57 ATP10B 0 genome.wustl.edu 37 5 160114826 160114826 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 160114826 160114826 G C SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.256 p.L86V 1.000 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 ATP10B HGNC ENSG00000118322 tier1 - - 168 0 0.00 126 7 5.26 ATP1A4 0 genome.wustl.edu 37 1 160147329 160147329 + Nonsense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 160147329 160147329 G T SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known nonsense c.2611 p.G871* 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 tier1 - - 141 0 0.00 152 18 10.59 ATP7B 0 genome.wustl.edu 37 13 52535989 52535989 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 13 52535989 52535989 T C SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known missense c.1930 p.K644E 1.000 NULL pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 tier1 - - 115 0 0.00 102 22 17.74 ATP8B2 0 genome.wustl.edu 37 1 154317472 154317472 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 154317472 154317472 A G SNP ATP8B2 ENST00000368489 human ensembl 74_37 +1 known missense c.2411 p.E804G 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B2 HGNC ENSG00000143515 tier1 - - 146 0 0.00 170 31 15.35 BACH1 0 genome.wustl.edu 37 21 30698621 30698621 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 21 30698621 30698621 T G SNP BACH1 ENST00000286800 human ensembl 74_37 +1 known missense c.476 p.L159R 0.000 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC ENSG00000156273 tier1 - - 130 0 0.00 95 7 6.80 BEST3 0 genome.wustl.edu 37 12 70091512 70091512 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 70091512 70091512 T C SNP BEST3 ENST00000330891 human ensembl 74_37 -1 known missense c.67 p.K23E 1.000 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 tier1 - - 198 0 0.00 166 20 10.75 BLZF1 0 genome.wustl.edu 37 1 169346076 169346076 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 169346076 169346076 C A SNP BLZF1 ENST00000329281 human ensembl 74_37 +1 known missense c.327 p.F109L 0.000 NULL pfam_Hsk3_like - no_errors BLZF1 HGNC ENSG00000117475 tier1 - - 113 0 0.00 107 17 13.71 BMPR1A 0 genome.wustl.edu 37 10 88683195 88683195 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 10 88683195 88683195 G C SNP BMPR1A ENST00000372037 human ensembl 74_37 +1 known missense c.1405 p.D469H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR1A HGNC ENSG00000107779 tier1 - - 114 0 0.00 93 11 10.58 BRCA2 0 genome.wustl.edu 37 13 32937423 32937423 + Nonsense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 13 32937423 32937423 C A SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known nonsense c.8084 p.S2695* 0.961 pfam_BRCA2_OB_1,superfamily_NA-bd_OB-fold,pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 tier1 - - 128 0 0.00 68 65 48.87 BRF1 0 genome.wustl.edu 37 14 105695217 105695217 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 105695217 105695217 C T SNP BRF1 ENST00000546474 human ensembl 74_37 -1 known missense c.728 p.R243K 1.000 pfam_TFIIB_cyclin,superfamily_Cyclin-like,smart_Cyclin-like pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC ENSG00000185024 tier1 - - 598 0 0.00 510 48 8.59 BRINP3 0 genome.wustl.edu 37 1 190195247 190195247 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 190195247 190195247 G T SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.926 p.T309N 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 tier1 - - 112 0 0.00 64 10 13.51 BRPF1 0 genome.wustl.edu 37 3 9780897 9780897 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 9780897 9780897 G A SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known missense c.814 p.E272K 1.000 superfamily_Znf_FYVE_PHD pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 tier1 - - 75 0 0.00 35 35 50.00 BSN 0 genome.wustl.edu 37 3 49698740 49698740 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 49698740 49698740 G T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.9462 p.E3154D 0.994 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 tier1 - - 125 0 0.00 78 14 15.22 BTG4 0 genome.wustl.edu 37 11 111365986 111365987 + Frame_Shift_Ins INS - - T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 111365986 111365987 - T INS BTG4 ENST00000356018 human ensembl 74_37 -1 known frame_shift_ins c.564_563 p.N189fs 0.065:0.239 NULL pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors BTG4 HGNC ENSG00000137707 tier1 113 0 0.00 106 25 19.08 C10orf62 0 genome.wustl.edu 37 10 99350029 99350029 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 10 99350029 99350029 C T SNP C10orf62 ENST00000370640 human ensembl 74_37 +1 known silent c.375 p.A125 0.003 NULL NULL - no_errors C10orf62 HGNC ENSG00000203942 tier1 - - 119 0 0.00 60 38 38.78 C11orf63 0 genome.wustl.edu 37 11 122805641 122805641 + Nonsense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 122805641 122805641 G T SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known nonsense c.1492 p.E498* 0.000 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 tier1 - - 160 0 0.00 206 11 5.07 C12orf4 0 genome.wustl.edu 37 12 4627995 4627995 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 4627995 4627995 A C SNP C12orf4 ENST00000261250 human ensembl 74_37 -1 known missense c.780 p.I260M 0.983 pfam_DUF2362 pfam_DUF2362 - no_errors C12orf4 HGNC ENSG00000047621 tier1 - - 59 0 0.00 47 6 11.32 C14orf119 0 genome.wustl.edu 37 14 23566984 23566984 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 23566984 23566984 G T SNP C14orf119 ENST00000319074 human ensembl 74_37 +1 known missense c.117 p.M39I 1.000 NULL NULL - no_errors C14orf119 HGNC ENSG00000179933 tier1 - - 140 0 0.00 173 19 9.79 C15orf27 0 genome.wustl.edu 37 15 76430143 76430143 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 76430143 76430143 T C SNP C15orf27 ENST00000388942 human ensembl 74_37 +1 known missense c.134 p.F45S 1.000 NULL NULL - no_errors C15orf27 HGNC ENSG00000169758 tier1 - - 152 0 0.00 98 20 16.95 C16orf46 0 genome.wustl.edu 37 16 81094820 81094820 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 81094820 81094820 C T SNP C16orf46 ENST00000299578 human ensembl 74_37 -1 known silent c.1134 p.P378 0.108 NULL NULL - no_errors C16orf46 HGNC ENSG00000166455 tier1 - - 93 0 0.00 60 20 24.69 C16orf80 0 genome.wustl.edu 37 16 58150024 58150024 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 58150024 58150024 T G SNP C16orf80 ENST00000262498 human ensembl 74_37 -1 known missense c.197 p.K66T 1.000 pfam_DUF667 pfam_DUF667 - no_errors C16orf80 HGNC ENSG00000070761 tier1 - - 144 0 0.00 127 12 8.63 C1QTNF8 0 genome.wustl.edu 37 16 1143788 1143788 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 1143788 1143788 A G SNP C1QTNF8 ENST00000328449 human ensembl 74_37 -1 known missense c.472 p.C158R 0.500 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF8 HGNC ENSG00000184471 tier1 - - 137 0 0.00 93 16 14.68 C1orf168 0 genome.wustl.edu 37 1 57192191 57192191 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 57192191 57192191 T C SNP C1orf168 ENST00000343433 human ensembl 74_37 -1 known missense c.1859 p.N620S 0.013 NULL superfamily_SH3_domain - no_errors C1orf168 HGNC ENSG00000187889 tier1 - - 153 0 0.00 112 10 8.20 C1orf213 0 genome.wustl.edu 37 1 23695955 23695955 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 23695955 23695955 T C SNP C1orf213 ENST00000335648 human ensembl 74_37 +1 known silent c.165 p.V55 0.009 NULL NULL - no_errors C1orf213 HGNC ENSG00000249087 tier1 - - 93 0 0.00 58 55 48.67 C4orf22 0 genome.wustl.edu 37 4 81884685 81884685 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 81884685 81884685 C T SNP C4orf22 ENST00000508675 human ensembl 74_37 +1 known silent c.672 p.D224 1.000 NULL NULL - no_errors C4orf22 HGNC ENSG00000197826 tier1 - - 82 0 0.00 63 23 26.74 CABS1 0 genome.wustl.edu 37 4 71201316 71201316 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 71201316 71201316 A G SNP CABS1 ENST00000273936 human ensembl 74_37 +1 known missense c.560 p.D187G 0.001 NULL NULL - no_errors CABS1 HGNC ENSG00000145309 tier1 - - 78 0 0.00 49 22 30.99 CACNA1C 0 genome.wustl.edu 37 12 2706652 2706652 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 2706652 2706652 T G SNP CACNA1C ENST00000347598 human ensembl 74_37 +1 known missense c.2903 p.I968S 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 ENSG00000151067 tier1 - - 75 0 0.00 43 15 25.86 CACNA1D 0 genome.wustl.edu 37 3 53845335 53845335 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 53845335 53845335 C G SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.6448 p.L2150V 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 tier1 - - 123 0 0.00 58 8 12.12 CACNA1S 0 genome.wustl.edu 37 1 201054639 201054639 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 201054639 201054639 G A SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known silent c.1075 p.L359 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 tier1 - - 189 0 0.00 112 23 17.04 CACNA2D3 0 genome.wustl.edu 37 3 54537528 54537528 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 54537528 54537528 T G SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known missense c.391 p.F131V 1.000 pfam_VWA_N pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 tier1 - - 136 0 0.00 66 47 41.59 CADPS 0 genome.wustl.edu 37 3 62631495 62631495 + Silent SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 62631495 62631495 G T SNP CADPS ENST00000383710 human ensembl 74_37 -1 known silent c.1227 p.G409 0.901 superfamily_C2_dom pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 tier1 - - 132 0 0.00 131 10 7.09 CADPS 0 genome.wustl.edu 37 3 62631496 62631496 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 62631496 62631496 C T SNP CADPS ENST00000383710 human ensembl 74_37 -1 known missense c.1226 p.G409D 1.000 superfamily_C2_dom pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 tier1 - - 129 0 0.00 129 11 7.86 CATSPER2 0 genome.wustl.edu 37 15 43927986 43927986 + Frame_Shift_Del DEL C C - TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 43927986 43927986 C - DEL CATSPER2 ENST00000321596 human ensembl 74_37 -1 known frame_shift_del c.1060 p.E354fs 0.990 NULL pfam_Ion_trans_dom - no_errors CATSPER2 HGNC ENSG00000166762 tier1 42 0 0.00 44 7 13.73 CATSPER2 0 genome.wustl.edu 37 15 43927988 43927988 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 43927988 43927988 T G SNP CATSPER2 ENST00000321596 human ensembl 74_37 -1 known missense c.1058 p.E353A 0.979 NULL pfam_Ion_trans_dom - no_errors CATSPER2 HGNC ENSG00000166762 tier1 - - 42 0 0.00 45 7 13.46 CCDC140 0 genome.wustl.edu 37 2 223169089 223169089 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 223169089 223169089 G T SNP CCDC140 ENST00000295226 human ensembl 74_37 +1 known missense c.468 p.K156N 0.000 NULL NULL - no_errors CCDC140 HGNC ENSG00000163081 tier1 - - 32 0 0.00 17 5 21.74 CCDC171 0 genome.wustl.edu 37 9 15578878 15578878 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 15578878 15578878 T C SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known missense c.209 p.L70P 0.981 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 tier1 rs143245137 - 94 0 0.00 60 19 24.05 CCER1 0 genome.wustl.edu 37 12 91347975 91347975 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 91347975 91347975 C G SNP CCER1 ENST00000358859 human ensembl 74_37 -1 known missense c.545 p.G182A 0.996 NULL NULL - no_errors CCER1 HGNC ENSG00000197651 tier1 - - 156 0 0.00 140 12 7.89 CCL22 0 genome.wustl.edu 37 16 57394360 57394360 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 57394360 57394360 G A SNP CCL22 ENST00000219235 human ensembl 74_37 +1 known missense c.85 p.A29T 0.857 superfamily_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL22 HGNC ENSG00000102962 tier1 rs151094699 - 131 0 0.00 81 37 31.36 CCR9 0 genome.wustl.edu 37 3 45942730 45942730 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 45942730 45942730 G T SNP CCR9 ENST00000357632 human ensembl 74_37 +1 known missense c.450 p.Q150H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCRL1,prints_Chemokine_CXCR4 - no_errors CCR9 HGNC ENSG00000173585 tier1 - - 128 0 0.00 85 9 9.57 CD33 0 genome.wustl.edu 37 19 51728802 51728802 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 51728802 51728802 A C SNP CD33 ENST00000262262 human ensembl 74_37 +1 known missense c.366 p.R122S 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD33 HGNC ENSG00000105383 tier1 - - 126 0 0.00 116 19 13.97 CD40LG 0 genome.wustl.edu 37 X 135738551 135738551 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 135738551 135738551 G C SNP CD40LG ENST00000370629 human ensembl 74_37 +1 known missense c.383 p.S128T 0.959 superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom,prints_TNF_ligand_5 - no_errors CD40LG HGNC ENSG00000102245 tier1 - - 71 0 0.00 120 7 5.51 CDH3 0 genome.wustl.edu 37 16 68729158 68729158 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 68729158 68729158 T G SNP CDH3 ENST00000264012 human ensembl 74_37 +1 known missense c.2003 p.F668C 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH3 HGNC ENSG00000062038 tier1 - - 72 0 0.00 60 13 17.81 CDK11B 0 genome.wustl.edu 37 1 1571791 1571791 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 1571791 1571791 G A SNP CDK11B ENST00000407249 human ensembl 74_37 -1 known missense c.1979 p.A660V 0.994 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK11B HGNC ENSG00000248333 tier1 rs201006058 - 30 0 0.00 37 10 21.28 CDK12 0 genome.wustl.edu 37 17 37671991 37671991 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 37671991 37671991 C A SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known missense c.2776 p.L926I 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 CDK12 HGNC ENSG00000167258 tier1 - - 112 0 0.00 127 7 5.22 CDK2 0 genome.wustl.edu 37 12 56364989 56364989 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 56364989 56364989 A C SNP CDK2 ENST00000266970 human ensembl 74_37 +1 known missense c.750 p.K250N 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK2 HGNC ENSG00000123374 tier1 - - 334 0 0.00 188 148 43.92 CELSR3 0 genome.wustl.edu 37 3 48687919 48687919 + Frame_Shift_Del DEL C C - TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 48687919 48687919 C - DEL CELSR3 ENST00000544264 human ensembl 74_37 -1 known frame_shift_del c.6466 p.A2156fs 1.000 smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 tier1 34 0 0.00 19 2 9.52 CENPK 0 genome.wustl.edu 37 5 64814321 64814321 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 64814321 64814321 A G SNP CENPK ENST00000242872 human ensembl 74_37 -1 known missense c.791 p.L264S 1.000 pfam_Centromere_CenpK pfam_Centromere_CenpK,superfamily_Prefoldin - no_errors CENPK HGNC ENSG00000123219 tier1 - - 120 0 0.00 118 13 9.85 CEP152 0 genome.wustl.edu 37 15 49031095 49031095 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 49031095 49031095 G A SNP CEP152 ENST00000380950 human ensembl 74_37 -1 known missense c.4484 p.A1495V 0.000 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 tier1 - - 139 0 0.00 97 6 5.83 CFHR2 0 genome.wustl.edu 37 1 196928034 196928034 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 196928034 196928034 A G SNP CFHR2 ENST00000367415 human ensembl 74_37 +1 known missense c.637 p.I213V 0.000 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR2 HGNC ENSG00000080910 tier1 - - 59 0 0.00 27 16 37.21 CGNL1 0 genome.wustl.edu 37 15 57730861 57730861 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 57730861 57730861 G A SNP CGNL1 ENST00000281282 human ensembl 74_37 +1 known missense c.664 p.V222M 0.314 NULL pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 tier1 - - 231 0 0.00 184 29 13.62 CHERP 0 genome.wustl.edu 37 19 16640583 16640583 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 16640583 16640583 C T SNP CHERP ENST00000546361 human ensembl 74_37 -1 known silent c.1005 p.Q335 1.000 NULL pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 tier1 - - 45 0 0.00 70 5 6.67 CHM 0 genome.wustl.edu 37 X 85128195 85128195 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 85128195 85128195 T C SNP CHM ENST00000357749 human ensembl 74_37 -1 known silent c.1632 p.P544 0.698 pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHM HGNC ENSG00000188419 tier1 - - 11 0 0.00 15 10 40.00 CHML 0 genome.wustl.edu 37 1 241798634 241798634 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 241798634 241798634 T C SNP CHML ENST00000366553 human ensembl 74_37 -1 known silent c.435 p.L145 0.000 pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHML HGNC ENSG00000203668 tier1 - - 319 0 0.00 352 52 12.84 CHRM1 0 genome.wustl.edu 37 11 62677843 62677843 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 62677843 62677843 A T SNP CHRM1 ENST00000306960 human ensembl 74_37 -1 known missense c.730 p.S244T 0.970 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M1_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM1 HGNC ENSG00000168539 tier1 - - 101 0 0.00 125 15 10.71 CHST6 0 genome.wustl.edu 37 16 75513136 75513136 + Silent SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 75513136 75513136 G T SNP CHST6 ENST00000332272 human ensembl 74_37 -1 known silent c.591 p.I197 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST6 HGNC ENSG00000183196 tier1 - - 99 0 0.00 84 6 6.67 CLIP2 0 genome.wustl.edu 37 7 73811409 73811409 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 73811409 73811409 T C SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known missense c.2726 p.L909P 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 tier1 - - 101 0 0.00 122 11 8.27 CNGA2 0 genome.wustl.edu 37 X 150911645 150911645 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 150911645 150911645 G C SNP CNGA2 ENST00000329903 human ensembl 74_37 +1 known missense c.670 p.D224H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC ENSG00000183862 tier1 - - 63 0 0.00 81 11 11.96 CNOT1 0 genome.wustl.edu 37 16 58589379 58589379 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 58589379 58589379 G A SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known silent c.2667 p.N889 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 tier1 - - 125 0 0.00 108 20 15.50 CNTRL 0 genome.wustl.edu 37 9 123935659 123935659 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 123935659 123935659 C G SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known missense c.6556 p.L2186V 0.974 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 tier1 - - 105 0 0.00 94 8 7.77 COL2A1 0 genome.wustl.edu 37 12 48370676 48370676 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 48370676 48370676 T C SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known silent c.3354 p.K1118 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 tier1 - - 35 0 0.00 33 11 25.00 COL4A6 0 genome.wustl.edu 37 X 107418963 107418963 + Silent SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 107418963 107418963 T G SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known silent c.2754 p.G918 0.006 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 tier1 - - 52 0 0.00 39 10 20.41 CPEB2 0 genome.wustl.edu 37 4 15054167 15054167 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 15054167 15054167 G T SNP CPEB2 ENST00000538197 human ensembl 74_37 +1 known missense c.2330 p.R777L 1.000 pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 tier1 - - 114 0 0.00 69 28 28.87 CPS1 0 genome.wustl.edu 37 2 211464283 211464283 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 211464283 211464283 G T SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.1565 p.C522F 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 tier1 - - 119 0 0.00 93 7 7.00 CRTAM 0 genome.wustl.edu 37 11 122709288 122709288 + Missense_Mutation SNP T T A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 122709288 122709288 T A SNP CRTAM ENST00000227348 human ensembl 74_37 +1 known missense c.34 p.F12I 0.923 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CRTAM HGNC ENSG00000109943 tier1 - - 85 0 0.00 99 19 16.10 CSMD1 0 genome.wustl.edu 37 8 2855667 2855667 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 2855667 2855667 A C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.8246 p.F2749C 0.214 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 162 0 0.00 124 43 25.75 CTNNA1 0 genome.wustl.edu 37 5 138145885 138145885 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 138145885 138145885 C T SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known silent c.460 p.L154 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 tier1 - - 140 0 0.00 103 16 13.45 CTTNBP2NL 0 genome.wustl.edu 37 1 112999498 112999498 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 112999498 112999498 G A SNP CTTNBP2NL ENST00000271277 human ensembl 74_37 +1 known missense c.1384 p.A462T 1.000 NULL pfam_Cortactin-binding_p2_N - no_errors CTTNBP2NL HGNC ENSG00000143079 tier1 - - 209 0 0.00 155 19 10.86 CUX2 0 genome.wustl.edu 37 12 111760282 111760282 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 111760282 111760282 A G SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known missense c.2824 p.S942G 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 tier1 - - 27 0 0.00 22 6 21.43 CXADR 0 genome.wustl.edu 37 21 18937762 18937762 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 21 18937762 18937762 C T SNP CXADR ENST00000284878 human ensembl 74_37 +1 known missense c.850 p.P284S 1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CXADR HGNC ENSG00000154639 tier1 - - 122 0 0.00 87 9 9.38 CYFIP2 0 genome.wustl.edu 37 5 156755028 156755028 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 156755028 156755028 C A SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known silent c.2202 p.I734 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 tier1 - - 81 0 0.00 54 12 18.18 CYLC1 0 genome.wustl.edu 37 X 83128517 83128517 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 83128517 83128517 T C SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known silent c.801 p.N267 0.242 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 tier1 - - 34 0 0.00 30 6 16.67 CYP2A13 0 genome.wustl.edu 37 19 41596368 41596368 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 41596368 41596368 A G SNP CYP2A13 ENST00000330436 human ensembl 74_37 +1 known missense c.553 p.I185V 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 tier1 - - 193 0 0.00 213 18 7.76 DACH2 0 genome.wustl.edu 37 X 85769380 85769380 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 85769380 85769380 T G SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known missense c.626 p.L209R 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 tier1 - - 23 0 0.00 14 12 44.44 DAGLB 0 genome.wustl.edu 37 7 6476089 6476089 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 6476089 6476089 T C SNP DAGLB ENST00000297056 human ensembl 74_37 -1 known missense c.323 p.E108G 1.000 NULL pfam_Lipase_3 - no_errors DAGLB HGNC ENSG00000164535 tier1 - - 212 0 0.00 214 12 5.31 DARC 0 genome.wustl.edu 37 1 159176106 159176106 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 159176106 159176106 G T SNP DARC ENST00000368121 human ensembl 74_37 +1 known missense c.883 p.A295S 0.613 prints_Duffy_chemokine_rcpt prints_Duffy_chemokine_rcpt - no_errors DARC HGNC ENSG00000213088 tier1 - - 436 0 0.00 527 28 5.05 DCAF12L2 0 genome.wustl.edu 37 X 125299513 125299513 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 125299513 125299513 C T SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.395 p.R132H 0.014 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 tier1 - - 121 0 0.00 104 7 6.31 DCLK1 0 genome.wustl.edu 37 13 36700142 36700142 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 13 36700142 36700142 G A SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.133 p.R45C 1.000 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 tier1 - - 155 0 0.00 105 36 25.53 DDAH1 0 genome.wustl.edu 37 1 85816110 85816110 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 85816110 85816110 C T SNP DDAH1 ENST00000284031 human ensembl 74_37 -1 known silent c.585 p.Q195 1.000 pfam_Amidino_trans pfam_Amidino_trans - no_errors DDAH1 HGNC ENSG00000153904 tier1 - - 235 0 0.00 225 27 10.71 DDAH1 0 genome.wustl.edu 37 1 85817200 85817200 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 85817200 85817200 C A SNP DDAH1 ENST00000284031 human ensembl 74_37 -1 known missense c.466 p.D156Y 1.000 pfam_Amidino_trans pfam_Amidino_trans - no_errors DDAH1 HGNC ENSG00000153904 tier1 - - 74 0 0.00 73 9 10.98 DDX4 0 genome.wustl.edu 37 5 55088539 55088539 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 55088539 55088539 C T SNP DDX4 ENST00000505374 human ensembl 74_37 +1 known missense c.1373 p.P458L 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX4 HGNC ENSG00000152670 tier1 - - 85 0 0.00 39 45 53.57 DENND2C 0 genome.wustl.edu 37 1 115168117 115168117 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 115168117 115168117 A C SNP DENND2C ENST00000393274 human ensembl 74_37 -1 known missense c.489 p.N163K 0.277 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 136 0 0.00 86 5 5.49 DHCR7 0 genome.wustl.edu 37 11 71153310 71153310 + Silent SNP T T A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 71153310 71153310 T A SNP DHCR7 ENST00000355527 human ensembl 74_37 -1 known silent c.411 p.A137 1.000 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24 - no_errors DHCR7 HGNC ENSG00000172893 tier1 - - 27 0 0.00 19 11 36.67 DHX16 0 genome.wustl.edu 37 6 30630483 30630483 + Nonsense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 30630483 30630483 C A SNP DHX16 ENST00000376442 human ensembl 74_37 -1 known nonsense c.1465 p.E489* 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX16 HGNC ENSG00000204560 tier1 - - 75 0 0.00 53 22 29.33 DISP1 0 genome.wustl.edu 37 1 223178510 223178510 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 223178510 223178510 A G SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel silent c.3771 p.E1257 0.142 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 tier1 - - 245 0 0.00 343 19 5.23 DMTF1 0 genome.wustl.edu 37 7 86824042 86824042 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 86824042 86824042 A G SNP DMTF1 ENST00000331242 human ensembl 74_37 +1 known missense c.2071 p.I691V 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors DMTF1 HGNC ENSG00000135164 tier1 - - 99 0 0.00 97 7 6.73 DNAAF3 0 genome.wustl.edu 37 19 55670584 55670584 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 55670584 55670584 T G SNP DNAAF3 ENST00000527223 human ensembl 74_37 -1 known missense c.1673 p.E558A 0.007 NULL NULL - no_errors DNAAF3 HGNC ENSG00000167646 tier1 - - 58 0 0.00 56 38 40.00 DNAH10 0 genome.wustl.edu 37 12 124408960 124408960 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 124408960 124408960 A G SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.11393 p.N3798S 0.038 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 40 0 0.00 30 5 14.29 DNAH11 0 genome.wustl.edu 37 7 21583015 21583015 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 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 - - 13 0 0.00 7 5 41.67 DNAH17 0 genome.wustl.edu 37 17 76441726 76441726 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 76441726 76441726 G A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known silent c.11206 p.L3736 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 tier1 - - 8 0 0.00 13 6 31.58 DNAH17 0 genome.wustl.edu 37 17 76446423 76446423 + Nonsense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 76446423 76446423 G T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known nonsense c.10911 p.Y3637* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 tier1 - - 57 0 0.00 45 8 15.09 DNAH17 0 genome.wustl.edu 37 17 76521202 76521202 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 76521202 76521202 C T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known silent c.3741 p.A1247 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 tier1 - - 48 0 0.00 30 19 38.78 DNAH5 0 genome.wustl.edu 37 5 13727761 13727761 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 13727761 13727761 G C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.11888 p.S3963W 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 96 0 0.00 73 26 26.26 DNAH5 0 genome.wustl.edu 37 5 13794163 13794163 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 13794163 13794163 G A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.7892 p.T2631M 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase 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 DNAH5 HGNC ENSG00000039139 tier1 - - 79 0 0.00 76 5 6.17 DNAH7 0 genome.wustl.edu 37 2 196726635 196726635 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 196726635 196726635 T C SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known silent c.7542 p.S2514 0.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 - - 97 0 0.00 121 11 8.33 DOCK4 0 genome.wustl.edu 37 7 111379261 111379261 + Nonsense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 111379261 111379261 C A SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known nonsense c.5161 p.E1721* 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 tier1 - - 106 0 0.00 140 8 5.41 DSCAML1 0 genome.wustl.edu 37 11 117332239 117332239 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 117332239 117332239 C A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.3519 p.E1173D 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 - - 128 0 0.00 139 20 12.58 DSP 0 genome.wustl.edu 37 6 7581434 7581434 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 7581434 7581434 G C SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.5011 p.E1671Q 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 tier1 - - 171 0 0.00 176 41 18.89 DUSP4 0 genome.wustl.edu 37 8 29203038 29203038 + Missense_Mutation SNP T T A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 29203038 29203038 T A SNP DUSP4 ENST00000240101 human ensembl 74_37 -1 putative missense c.9 p.R3S 0.001 pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP4 HGNC ENSG00000120875 tier1 - - 166 0 0.00 90 43 32.33 DYNLRB1 0 genome.wustl.edu 37 20 33122455 33122455 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 33122455 33122455 G A SNP DYNLRB1 ENST00000417166 human ensembl 74_37 +1 known missense c.103 p.D35N 1.000 pfam_Dynein_light-rel,smart_Dynein_light-rel pfam_Dynein_light-rel,smart_Dynein_light-rel - no_errors DYNLRB1 HGNC ENSG00000125971 tier1 - - 128 0 0.00 106 30 22.06 DYRK1A 0 genome.wustl.edu 37 21 38845075 38845075 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 21 38845075 38845075 A G SNP DYRK1A ENST00000398960 human ensembl 74_37 +1 known missense c.100 p.M34V 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 DYRK1A HGNC ENSG00000157540 tier1 - - 160 0 0.00 147 8 5.16 DZIP3 0 genome.wustl.edu 37 3 108394649 108394649 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 108394649 108394649 C A SNP DZIP3 ENST00000361582 human ensembl 74_37 +1 known missense c.2710 p.Q904K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 tier1 - - 68 0 0.00 50 23 31.51 EFHB 0 genome.wustl.edu 37 3 19930051 19930051 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 19930051 19930051 A G SNP EFHB ENST00000295824 human ensembl 74_37 -1 known silent c.1818 p.F606 0.999 pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFHB HGNC ENSG00000163576 tier1 - - 19 0 0.00 17 9 33.33 EFR3A 0 genome.wustl.edu 37 8 133014026 133014026 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 133014026 133014026 C A SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known silent c.2178 p.I726 0.993 NULL superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 tier1 - - 108 0 0.00 146 8 5.19 EGFR 0 genome.wustl.edu 37 7 55238880 55238880 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 55238880 55238880 A G SNP EGFR ENST00000275493 human ensembl 74_37 +1 known silent c.1893 p.P631 0.999 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 tier1 - - 85 0 0.00 77 24 23.76 EIF2AK3 0 genome.wustl.edu 37 2 88887534 88887534 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 88887534 88887534 A G SNP EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known silent c.1395 p.S465 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 tier1 - - 86 0 0.00 44 23 34.33 EIF4G3 0 genome.wustl.edu 37 1 21268098 21268098 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 21268098 21268098 A G SNP EIF4G3 ENST00000374937 human ensembl 74_37 -1 known missense c.1399 p.C467R 0.997 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 tier1 - - 303 0 0.00 292 31 9.60 EIF5B 0 genome.wustl.edu 37 2 99978090 99978090 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 99978090 99978090 G A SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known silent c.726 p.K242 0.957 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 tier1 - - 108 0 0.00 38 47 55.29 ENSG00000205325 0 genome.wustl.edu 37 17 14683190 14683190 + RNA SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 14683190 14683190 T C SNP ENSG00000205325 ENST00000379640 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005863.1 Clone_based_vega_gene ENSG00000205325 tier1 - - 167 0 0.00 67 69 50.74 ENSG00000211482 0 genome.wustl.edu 37 4 403670 403670 + RNA SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 403670 403670 T C SNP ENSG00000211482 ENST00000390148 human ensembl 74_37 +1 novel rna NULL NULL 0.175 - - - no_errors AC092574.1 Clone_based_ensembl_gene ENSG00000211482 tier1 - - 21 0 0.00 16 7 30.43 ENSG00000235016 0 genome.wustl.edu 37 3 50154656 50154656 + RNA SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 50154656 50154656 A G SNP ENSG00000235016 ENST00000437204 human ensembl 74_37 -1 known rna NULL NULL 0.499 - - - no_errors RP11-493K19.3 Clone_based_vega_gene ENSG00000235016 tier1 - - 209 0 0.00 168 16 8.65 ENSG00000267954 0 genome.wustl.edu 37 22 24125734 24125734 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 22 24125734 24125734 A G SNP ENSG00000267954 ENST00000598975 human ensembl 74_37 -1 known missense c.412 p.W138R 0.000 NULL NULL - no_errors AP000349.1 Clone_based_ensembl_gene ENSG00000267954 tier1 - - 164 0 0.00 145 13 8.23 ENSG00000272356 0 genome.wustl.edu 37 6 111632259 111632259 + RNA SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 111632259 111632259 A C SNP ENSG00000272356 ENST00000607434 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP5-1112D6.8 Clone_based_vega_gene ENSG00000272356 tier1 - - 136 0 0.00 65 11 14.47 ENTPD2 0 genome.wustl.edu 37 9 139945372 139945372 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 139945372 139945372 C A SNP ENTPD2 ENST00000355097 human ensembl 74_37 -1 known silent c.756 p.L252 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD2 HGNC ENSG00000054179 tier1 - - 50 0 0.00 36 4 10.00 EPB41L4B 0 genome.wustl.edu 37 9 112004042 112004042 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 112004042 112004042 C G SNP EPB41L4B ENST00000374557 human ensembl 74_37 -1 known missense c.1457 p.G486A 1.000 NULL 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 EPB41L4B HGNC ENSG00000095203 tier1 - - 173 0 0.00 157 16 9.25 EPRS 0 genome.wustl.edu 37 1 220142257 220142257 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 220142257 220142257 T G SNP EPRS ENST00000366923 human ensembl 74_37 -1 known missense c.4430 p.K1477T 1.000 pfam_Pro-tRNA_ligase_II_C,superfamily_Pro-tRNA_synth_II,smart_Pro-tRNA_ligase_II_C,tigrfam_Pro-tRNA-ligase_IIa_arc-type pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 tier1 - - 122 0 0.00 67 42 38.53 ESAM 0 genome.wustl.edu 37 11 124626486 124626486 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 124626486 124626486 T C SNP ESAM ENST00000278927 human ensembl 74_37 -1 known silent c.402 p.Q134 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ESAM HGNC ENSG00000149564 tier1 - - 190 0 0.00 157 15 8.72 EVC2 0 genome.wustl.edu 37 4 5564798 5564798 + Frame_Shift_Del DEL A A - TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 5564798 5564798 A 0 DEL EVC2 ENST00000344408 human ensembl 74_37 -1 known frame_shift_del c.3704 p.F1235fs 0.010 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 291 0 0.00 252 21 7.69 F11R 0 genome.wustl.edu 37 1 160969679 160969679 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 160969679 160969679 C T SNP F11R ENST00000368026 human ensembl 74_37 -1 known silent c.681 p.V227 0.022 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors F11R HGNC ENSG00000158769 tier1 - - 118 0 0.00 99 31 23.85 FAM135A 0 genome.wustl.edu 37 6 71138038 71138038 + RNA SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 71138038 71138038 A G SNP FAM135A ENST00000514185 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FAM135A HGNC ENSG00000082269 tier1 - - 55 0 0.00 34 8 19.05 FAM135B 0 genome.wustl.edu 37 8 139144847 139144847 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 139144847 139144847 A C SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.4210 p.Y1404D 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 tier1 - - 301 0 0.00 186 113 37.79 FAM149A 0 genome.wustl.edu 37 4 187073160 187073160 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 187073160 187073160 C T SNP FAM149A ENST00000356371 human ensembl 74_37 +1 known missense c.920 p.A307V 0.006 pfam_DUF3719 pfam_DUF3719 - no_errors FAM149A HGNC ENSG00000109794 tier1 - - 109 0 0.00 87 7 7.45 FAM178A 0 genome.wustl.edu 37 10 102684321 102684321 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 10 102684321 102684321 C T SNP FAM178A ENST00000370269 human ensembl 74_37 +1 known silent c.1563 p.H521 1.000 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 tier1 - - 202 0 0.00 187 14 6.93 FAM221B 0 genome.wustl.edu 37 9 35825636 35825636 + Nonsense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 35825636 35825636 C A SNP FAM221B ENST00000423537 human ensembl 74_37 -1 known nonsense c.523 p.E175* 0.649 NULL NULL - no_errors FAM221B HGNC ENSG00000204930 tier1 - - 257 0 0.00 231 44 16.00 FAM47C 0 genome.wustl.edu 37 X 37028319 37028319 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 37028319 37028319 G T SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.1836 p.E612D 0.000 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 tier1 - - 110 0 0.00 64 18 21.95 FAM63B 0 genome.wustl.edu 37 15 59146716 59146716 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 59146716 59146716 A G SNP FAM63B ENST00000559228 human ensembl 74_37 +1 known silent c.1773 p.G591 1.000 NULL pfam_DUF544 - no_errors FAM63B HGNC ENSG00000128923 tier1 - - 87 0 0.00 55 5 8.33 FANCB 0 genome.wustl.edu 37 X 14883088 14883088 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 14883088 14883088 A C SNP FANCB ENST00000324138 human ensembl 74_37 -1 known missense c.545 p.V182G 0.843 NULL NULL - no_errors FANCB HGNC ENSG00000181544 tier1 - - 112 0 0.00 95 16 14.29 FASN 0 genome.wustl.edu 37 17 80047252 80047252 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 80047252 80047252 C A SNP FASN ENST00000306749 human ensembl 74_37 -1 known silent c.1974 p.V658 0.051 pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_acyl_transferase pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 tier1 - - 143 0 0.00 145 11 7.05 FASTKD2 0 genome.wustl.edu 37 2 207655404 207655404 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 207655404 207655404 G A SNP FASTKD2 ENST00000236980 human ensembl 74_37 +1 known silent c.2007 p.V669 1.000 pfam_RAP,smart_RAP pfam_FAST_Leu-rich,pfam_FAST_2,pfam_RAP,smart_RAP - no_errors FASTKD2 HGNC ENSG00000118246 tier1 - - 208 0 0.00 124 72 36.73 FAT4 0 genome.wustl.edu 37 4 126241856 126241856 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 126241856 126241856 T C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.4290 p.V1430 0.081 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 181 0 0.00 72 95 56.89 FBN2 0 genome.wustl.edu 37 5 127626550 127626550 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 127626550 127626550 T G SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.6319 p.N2107H 0.992 pirsf_FBN,superfamily_TB_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 - - 130 0 0.00 40 39 49.37 FBXL7 0 genome.wustl.edu 37 5 15936904 15936904 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 15936904 15936904 G A SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.1085 p.R362Q 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 tier1 - - 34 0 0.00 23 12 34.29 FER 0 genome.wustl.edu 37 5 108521997 108521997 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 108521997 108521997 A G SNP FER ENST00000281092 human ensembl 74_37 +1 known missense c.2300 p.Q767R 0.997 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,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_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FER HGNC ENSG00000151422 tier1 - - 165 0 0.00 53 46 46.46 FGFR1OP 0 genome.wustl.edu 37 6 167413537 167413537 + RNA SNP T T A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 167413537 167413537 T A SNP FGFR1OP ENST00000476078 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FGFR1OP HGNC ENSG00000213066 tier1 - - 81 0 0.00 64 12 15.79 FILIP1 0 genome.wustl.edu 37 6 76024842 76024842 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 76024842 76024842 G A SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known silent c.706 p.L236 1.000 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 tier1 - - 139 0 0.00 107 13 10.83 FLNB 0 genome.wustl.edu 37 3 58112362 58112362 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 58112362 58112362 T C SNP FLNB ENST00000295956 human ensembl 74_37 +1 known silent c.4095 p.V1365 0.107 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 tier1 - - 116 0 0.00 106 28 20.90 FMO4 0 genome.wustl.edu 37 1 171289014 171289014 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 171289014 171289014 C G SNP FMO4 ENST00000367749 human ensembl 74_37 +1 known missense c.50 p.S17C 1.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3 - no_errors FMO4 HGNC ENSG00000076258 tier1 - - 171 0 0.00 192 40 17.24 FRMPD4 0 genome.wustl.edu 37 X 12736295 12736295 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 12736295 12736295 G T SNP FRMPD4 ENST00000380682 human ensembl 74_37 +1 known missense c.3350 p.R1117I 1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom - no_errors FRMPD4 HGNC ENSG00000169933 tier1 - - 176 0 0.00 117 40 25.48 FRYL 0 genome.wustl.edu 37 4 48564917 48564917 + Nonsense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 48564917 48564917 G A SNP FRYL ENST00000358350 human ensembl 74_37 -1 known nonsense c.3685 p.Q1229* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 tier1 - - 121 0 0.00 137 18 11.61 FZD7 0 genome.wustl.edu 37 2 202900333 202900333 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 202900333 202900333 C T SNP FZD7 ENST00000286201 human ensembl 74_37 +1 known silent c.963 p.D321 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD7 HGNC ENSG00000155760 tier1 - - 154 0 0.00 139 9 6.08 GABRG1 0 genome.wustl.edu 37 4 46060558 46060558 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 46060558 46060558 T G SNP GABRG1 ENST00000295452 human ensembl 74_37 -1 known missense c.707 p.Y236S 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 tier1 - - 101 0 0.00 82 6 6.82 GAS2L2 0 genome.wustl.edu 37 17 34072287 34072287 + Silent SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 34072287 34072287 G T SNP GAS2L2 ENST00000254466 human ensembl 74_37 -1 known silent c.2229 p.P743 0.015 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 tier1 - - 251 0 0.00 298 19 5.99 GDF15 0 genome.wustl.edu 37 19 18496880 18496882 + RNA DEL CTG CTG - TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 18496880 18496882 CTG - DEL GDF15 ENST00000604609 human ensembl 74_37 +1 known rna NULL NULL 0.052:0.039:0.039 - - - no_errors GDF15 HGNC ENSG00000130513 tier1 35 0 0.00 22 3 12.00 GFRA4 0 genome.wustl.edu 37 20 3641466 3641466 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 3641466 3641466 G A SNP GFRA4 ENST00000319242 human ensembl 74_37 -1 known missense c.517 p.R173C 0.000 pfam_GDNF/GAS1,smart_GDNF/GAS1 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt - no_errors GFRA4 HGNC ENSG00000125861 tier1 - - 14 0 0.00 18 6 25.00 GID8 0 genome.wustl.edu 37 20 61574919 61574919 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 61574919 61574919 G T SNP GID8 ENST00000266069 human ensembl 74_37 +1 known missense c.388 p.A130S 1.000 pfam_CTLH/CRA,smart_CRA_dom pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors GID8 HGNC ENSG00000101193 tier1 - - 97 0 0.00 130 17 11.56 GIGYF1 0 genome.wustl.edu 37 7 100283633 100283633 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 100283633 100283633 G T SNP GIGYF1 ENST00000275732 human ensembl 74_37 -1 known missense c.1018 p.P340T 0.034 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 tier1 - - 102 0 0.00 89 12 11.76 GIMAP1 0 genome.wustl.edu 37 7 150417880 150417880 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 150417880 150417880 G A SNP GIMAP1 ENST00000307194 human ensembl 74_37 +1 known missense c.788 p.R263Q 0.153 NULL pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP1 HGNC ENSG00000213203 tier1 - - 20 0 0.00 8 4 33.33 GLI4 0 genome.wustl.edu 37 8 144358979 144358979 + RNA SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 144358979 144358979 G A SNP GLI4 ENST00000523812 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors GLI4 HGNC ENSG00000250571 tier1 - - 14 0 0.00 7 6 46.15 GLIS3-AS1 0 genome.wustl.edu 37 9 3898888 3898889 + RNA INS - - T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 3898888 3898889 - T INS GLIS3-AS1 ENST00000451340 human ensembl 74_37 +1 known rna NULL NULL 0.005:0.003 - - - no_errors GLIS3-AS1 HGNC ENSG00000237009 tier1 32 0 0.00 22 14 38.89 GNPNAT1 0 genome.wustl.edu 37 14 53251341 53251341 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 53251341 53251341 C G SNP GNPNAT1 ENST00000216410 human ensembl 74_37 -1 known missense c.28 p.D10H 1.000 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors GNPNAT1 HGNC ENSG00000100522 tier1 - - 62 0 0.00 48 13 21.31 GPI 0 genome.wustl.edu 37 19 34887294 34887294 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 34887294 34887294 G T SNP GPI ENST00000415930 human ensembl 74_37 +1 known missense c.1184 p.G395V 1.000 pfam_G6P_Isomerase pfam_G6P_Isomerase,prints_G6P_Isomerase - no_errors GPI HGNC ENSG00000105220 tier1 - - 164 0 0.00 185 11 5.58 GPR126 0 genome.wustl.edu 37 6 142723187 142723187 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 142723187 142723187 A G SNP GPR126 ENST00000367609 human ensembl 74_37 +1 known missense c.1736 p.N579S 0.100 NULL pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 tier1 - - 14 0 0.00 12 6 33.33 GPR149 0 genome.wustl.edu 37 3 154146450 154146450 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 154146450 154146450 T C SNP GPR149 ENST00000389740 human ensembl 74_37 -1 known missense c.955 p.K319E 0.984 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC ENSG00000174948 tier1 - - 278 0 0.00 305 41 11.85 GRIK5 0 genome.wustl.edu 37 19 42566669 42566669 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 42566669 42566669 G A SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known missense c.479 p.S160L 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 tier1 - - 137 0 0.00 93 45 32.61 GRIP2 0 genome.wustl.edu 37 3 14547144 14547146 + RNA DEL TCC TCC - TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 14547144 14547146 TCC - DEL GRIP2 ENST00000273083 human ensembl 74_37 -1 known rna NULL NULL 0.866:0.967:0.974 - - - no_errors GRIP2 HGNC ENSG00000144596 tier1 29 0 0.00 34 2 5.56 GRM1 0 genome.wustl.edu 37 6 146350981 146350981 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 146350981 146350981 T G SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.328 p.W110G 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I 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 - - 66 0 0.00 35 15 30.00 GRM5 0 genome.wustl.edu 37 11 88780527 88780527 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 88780527 88780527 A G SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.514 p.Y172H 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 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,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 tier1 - - 101 0 0.00 97 6 5.83 GSK3B 0 genome.wustl.edu 37 3 119582417 119582417 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 119582417 119582417 T C SNP GSK3B ENST00000316626 human ensembl 74_37 -1 known silent c.984 p.A328 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors GSK3B HGNC ENSG00000082701 tier1 - - 62 0 0.00 58 7 10.77 GSPT2 0 genome.wustl.edu 37 X 51487185 51487185 + Nonsense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 51487185 51487185 G T SNP GSPT2 ENST00000340438 human ensembl 74_37 +1 known nonsense c.463 p.E155* 1.000 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT2 HGNC ENSG00000189369 tier1 - - 21 0 0.00 8 11 57.89 GSTM5 0 genome.wustl.edu 37 1 110256233 110256233 + RNA SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 110256233 110256233 C A SNP GSTM5 ENST00000492718 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors GSTM5 HGNC ENSG00000134201 tier1 - - 140 0 0.00 97 8 7.62 GTF2IRD2P1 0 genome.wustl.edu 37 7 72683315 72683315 + RNA SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 72683315 72683315 C T SNP GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.355 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 tier1 - - 222 0 0.00 187 91 32.73 GTPBP8 0 genome.wustl.edu 37 3 112709897 112709897 + Silent SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 112709897 112709897 T G SNP GTPBP8 ENST00000383678 human ensembl 74_37 +1 known silent c.51 p.P17 0.000 NULL pfam_GTP_binding_domain,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,tigrfam_GTP-bd_ribosome_bio_YsxC - no_errors GTPBP8 HGNC ENSG00000163607 tier1 - - 67 0 0.00 61 10 14.08 H2AFJ 0 genome.wustl.edu 37 12 14927543 14927543 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 14927543 14927543 G A SNP H2AFJ ENST00000389078 human ensembl 74_37 +1 known missense c.139 p.G47R 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors H2AFJ HGNC ENSG00000246705 tier1 - - 156 0 0.00 122 18 12.86 HAP1 0 genome.wustl.edu 37 17 39887967 39887967 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 39887967 39887967 G A SNP HAP1 ENST00000310778 human ensembl 74_37 -1 known missense c.925 p.H309Y 0.009 pfam_HAP1_N pfam_HAP1_N - no_errors HAP1 HGNC ENSG00000173805 tier1 - - 77 0 0.00 71 20 21.98 HEATR1 0 genome.wustl.edu 37 1 236732406 236732406 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 236732406 236732406 T C SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.3967 p.I1323V 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 tier1 - - 67 0 0.00 91 10 9.90 HERC2 0 genome.wustl.edu 37 15 28510800 28510800 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 28510800 28510800 T G SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.1834 p.S612R 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens 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 - - 173 0 0.00 162 12 6.86 HNRNPDL 0 genome.wustl.edu 37 4 83349260 83349260 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 83349260 83349260 T G SNP HNRNPDL ENST00000295470 human ensembl 74_37 -1 known missense c.685 p.K229Q 1.000 pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPDL HGNC ENSG00000152795 tier1 - - 112 0 0.00 83 5 5.62 HOXA4 0 genome.wustl.edu 37 7 27169073 27169073 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 27169073 27169073 C T SNP HOXA4 ENST00000360046 human ensembl 74_37 -1 known missense c.734 p.R245H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA4 HGNC ENSG00000197576 tier1 - - 202 0 0.00 178 44 19.82 HSD11B1 0 genome.wustl.edu 37 1 209905824 209905824 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 209905824 209905824 G T SNP HSD11B1 ENST00000261465 human ensembl 74_37 +1 known missense c.561 p.K187N 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD11B1 HGNC ENSG00000117594 tier1 - - 175 0 0.00 126 20 13.70 HSD17B1 0 genome.wustl.edu 37 17 40705550 40705550 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 40705550 40705550 T G SNP HSD17B1 ENST00000585807 human ensembl 74_37 +1 known missense c.359 p.V120G 0.918 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B1 HGNC ENSG00000108786 tier1 - - 116 0 0.00 116 8 6.45 HSPA12B 0 genome.wustl.edu 37 20 3726148 3726148 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 3726148 3726148 C A SNP HSPA12B ENST00000254963 human ensembl 74_37 +1 known silent c.462 p.T154 1.000 NULL NULL - no_errors HSPA12B HGNC ENSG00000132622 tier1 - - 108 0 0.00 148 10 6.33 IFRD1 0 genome.wustl.edu 37 7 112115516 112115516 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 112115516 112115516 G A SNP IFRD1 ENST00000005558 human ensembl 74_37 +1 known missense c.1298 p.R433Q 1.000 pfam_Interferon-rel_develop_reg_C pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD1 HGNC ENSG00000006652 tier1 - - 88 0 0.00 73 7 8.75 IQGAP3 0 genome.wustl.edu 37 1 156535837 156535837 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 156535837 156535837 G A SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known silent c.342 p.A114 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 tier1 - - 231 0 0.00 238 30 11.15 IQSEC3 0 genome.wustl.edu 37 12 274675 274675 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 274675 274675 C G SNP IQSEC3 ENST00000326261 human ensembl 74_37 +1 known missense c.2785 p.Q929E 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC3 HGNC ENSG00000120645 tier1 - - 184 0 0.00 163 20 10.93 ISLR 0 genome.wustl.edu 37 15 74467458 74467458 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 74467458 74467458 C T SNP ISLR ENST00000249842 human ensembl 74_37 +1 known missense c.259 p.R87C 0.463 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ISLR HGNC ENSG00000129009 tier1 - - 109 0 0.00 66 14 17.28 ITFG1 0 genome.wustl.edu 37 16 47345175 47345175 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 47345175 47345175 A G SNP ITFG1 ENST00000320640 human ensembl 74_37 -1 known missense c.1046 p.V349A 1.000 NULL NULL - no_errors ITFG1 HGNC ENSG00000129636 tier1 - - 62 0 0.00 46 29 38.67 ITGA2 0 genome.wustl.edu 37 5 52356848 52356848 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 52356848 52356848 C T SNP ITGA2 ENST00000296585 human ensembl 74_37 +1 known missense c.1430 p.T477M 0.017 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ENSG00000164171 tier1 - - 115 0 0.00 88 8 8.33 ITGB4 0 genome.wustl.edu 37 17 73726350 73726350 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 73726350 73726350 C G SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known missense c.767 p.T256S 1.000 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 tier1 - - 113 0 0.00 75 36 32.43 ITIH6 0 genome.wustl.edu 37 X 54784081 54784081 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 54784081 54784081 C A SNP ITIH6 ENST00000218436 human ensembl 74_37 -1 known missense c.2426 p.R809I 0.000 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 tier1 - - 92 0 0.00 47 41 46.59 JAKMIP1 0 genome.wustl.edu 37 4 6064093 6064093 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 6064093 6064093 G A SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known silent c.1506 p.Y502 0.546 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 tier1 - - 125 0 0.00 70 32 31.37 KATNAL2 0 genome.wustl.edu 37 18 44580769 44580770 + Frame_Shift_Ins INS - - A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 18 44580769 44580770 - A INS KATNAL2 ENST00000245121 human ensembl 74_37 +1 known frame_shift_ins c.76_77 p.N27fs 1.000:1.000 NULL pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNAL2 HGNC ENSG00000167216 tier1 286 0 0.00 115 97 45.75 KCNA10 0 genome.wustl.edu 37 1 111060293 111060293 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 111060293 111060293 G A SNP KCNA10 ENST00000369771 human ensembl 74_37 -1 known missense c.1117 p.R373W 0.991 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA10 HGNC ENSG00000143105 tier1 - - 167 0 0.00 76 50 39.68 KCNH5 0 genome.wustl.edu 37 14 63447896 63447896 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 63447896 63447896 A G SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known silent c.636 p.A212 1.000 prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 tier1 - - 70 0 0.00 46 18 28.12 KCNT2 0 genome.wustl.edu 37 1 196303167 196303167 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 196303167 196303167 C T SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.1807 p.D603N 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 66 0 0.00 43 9 17.31 KIAA1210 0 genome.wustl.edu 37 X 118284425 118284425 + Nonsense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 118284425 118284425 G A SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known nonsense c.118 p.R40* 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 tier1 - - 51 0 0.00 31 9 22.50 KIAA1456 0 genome.wustl.edu 37 8 12879339 12879339 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 12879339 12879339 C A SNP KIAA1456 ENST00000524591 human ensembl 74_37 +1 known missense c.1151 p.S384Y 0.371 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel - no_errors KIAA1456 HGNC ENSG00000250305 tier1 - - 30 0 0.00 37 5 11.90 KIAA1467 0 genome.wustl.edu 37 12 13229046 13229046 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 13229046 13229046 C A SNP KIAA1467 ENST00000197268 human ensembl 74_37 +1 known silent c.1611 p.A537 0.998 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors KIAA1467 HGNC ENSG00000084444 tier1 - - 99 0 0.00 106 16 13.11 KIAA1549 0 genome.wustl.edu 37 7 138602845 138602845 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 138602845 138602845 G A SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known silent c.1527 p.A509 0.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 tier1 - - 44 0 0.00 22 20 47.62 KIAA2018 0 genome.wustl.edu 37 3 113376998 113376998 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 113376998 113376998 T C SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known silent c.3531 p.K1177 0.015 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 tier1 - - 124 0 0.00 91 13 12.50 KIAA2026 0 genome.wustl.edu 37 9 5923017 5923017 + Silent SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 5923017 5923017 T G SNP KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel silent c.2979 p.S993 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 tier1 - - 134 0 0.00 103 16 13.45 KIF2B 0 genome.wustl.edu 37 17 51900513 51900513 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 51900513 51900513 G A SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.119 p.R40Q 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 tier1 rs201736778 - 124 0 0.00 79 31 28.18 KIRREL 0 genome.wustl.edu 37 1 158045957 158045957 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 158045957 158045957 A T SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known missense c.107 p.Q36L 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_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 tier1 - - 103 0 0.00 135 11 7.53 KLHL18 0 genome.wustl.edu 37 3 47361166 47361166 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 47361166 47361166 C T SNP KLHL18 ENST00000232766 human ensembl 74_37 +1 known silent c.153 p.A51 0.977 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL18 HGNC ENSG00000114648 tier1 - - 229 0 0.00 153 30 16.39 KLK11 0 genome.wustl.edu 37 19 51528880 51528880 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 51528880 51528880 A C SNP KLK11 ENST00000594768 human ensembl 74_37 -1 known missense c.104 p.I35S 0.984 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors KLK11 HGNC ENSG00000167757 tier1 - - 12 0 0.00 17 6 26.09 KMT2C 0 genome.wustl.edu 37 7 151841796 151841796 + Splice_Site SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 151841796 151841796 A G SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known splice_site c.14514+2 e56+2 1.000 - - - no_errors KMT2C HGNC ENSG00000055609 tier1 - - 135 0 0.00 65 41 38.68 KMT2C 0 genome.wustl.edu 37 7 151896453 151896453 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 151896453 151896453 T C SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.4184 p.Y1395C 0.951 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 - - 68 0 0.00 32 27 45.76 KRTAP10-12 0 genome.wustl.edu 37 21 46117590 46117590 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 21 46117590 46117590 G C SNP KRTAP10-12 ENST00000400365 human ensembl 74_37 +1 known missense c.474 p.K158N 0.206 NULL NULL - no_errors KRTAP10-12 HGNC ENSG00000189169 tier1 - - 560 0 0.00 439 39 8.16 KRTAP10-3 0 genome.wustl.edu 37 21 45978444 45978444 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 21 45978444 45978444 C G SNP KRTAP10-3 ENST00000391620 human ensembl 74_37 -1 known missense c.155 p.C52S 0.242 NULL NULL - no_errors KRTAP10-3 HGNC ENSG00000212935 tier1 - - 161 0 0.00 110 11 9.02 KRTAP9-1 0 genome.wustl.edu 37 17 39346594 39346594 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 39346594 39346594 C T SNP KRTAP9-1 ENST00000398470 human ensembl 74_37 +1 known silent c.456 p.T152 0.010 NULL NULL - no_errors KRTAP9-1 HGNC ENSG00000240542 tier1 - - 44 0 0.00 31 7 18.42 LGI2 0 genome.wustl.edu 37 4 25005761 25005761 + Missense_Mutation SNP T T A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 25005761 25005761 T A SNP LGI2 ENST00000382114 human ensembl 74_37 -1 known missense c.950 p.D317V 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI2 HGNC ENSG00000153012 tier1 - - 307 0 0.00 181 59 24.58 LIG4 0 genome.wustl.edu 37 13 108861688 108861688 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 13 108861688 108861688 G A SNP LIG4 ENST00000356922 human ensembl 74_37 -1 known silent c.1929 p.H643 0.766 superfamily_BRCT_dom pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 tier1 - - 111 0 0.00 47 74 61.16 LILRB4 0 genome.wustl.edu 37 19 55175832 55175832 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 55175832 55175832 C A SNP LILRB4 ENST00000270452 human ensembl 74_37 +1 known missense c.551 p.P184H 0.049 pfam_Immunoglobulin,pfscan_Ig-like_dom pfam_Immunoglobulin,pfscan_Ig-like_dom - no_errors LILRB4 HGNC ENSG00000186818 tier1 - - 168 0 0.00 159 16 9.14 LOC101927345 0 genome.wustl.edu 37 1 143391670 143391670 + RNA SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 143391670 143391670 G T SNP LOC101927345 ENST00000412492 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 - - 73 0 0.00 48 7 12.73 LPCAT2 0 genome.wustl.edu 37 16 55559524 55559524 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 55559524 55559524 T C SNP LPCAT2 ENST00000262134 human ensembl 74_37 +1 known silent c.276 p.P92 0.993 NULL pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 tier1 - - 100 0 0.00 84 15 15.15 LRP1B 0 genome.wustl.edu 37 2 141114004 141114004 + Nonsense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 141114004 141114004 C A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known nonsense c.11437 p.G3813* 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom 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 - - 103 0 0.00 103 9 8.04 LRP5 0 genome.wustl.edu 37 11 68181312 68181312 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 68181312 68181312 G A SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.2659 p.D887N 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 tier1 - - 102 0 0.00 79 43 35.25 LRRC2 0 genome.wustl.edu 37 3 46593061 46593061 + Silent SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 46593061 46593061 G T SNP LRRC2 ENST00000296144 human ensembl 74_37 -1 known silent c.21 p.V7 0.866 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC2 HGNC ENSG00000163827 tier1 - - 123 0 0.00 69 33 32.35 LRRC46 0 genome.wustl.edu 37 17 45913056 45913056 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 45913056 45913056 A G SNP LRRC46 ENST00000269025 human ensembl 74_37 +1 known silent c.297 p.Q99 0.551 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC46 HGNC ENSG00000141294 tier1 - - 275 0 0.00 268 23 7.90 LRRK2 0 genome.wustl.edu 37 12 40757308 40757308 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 40757308 40757308 A G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.7133 p.K2378R 1.000 superfamily_WD40_repeat_dom 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 tier1 - - 101 0 0.00 87 12 12.12 LYST 0 genome.wustl.edu 37 1 235916434 235916434 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 235916434 235916434 G T SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.7370 p.S2457Y 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 tier1 - - 112 0 0.00 130 18 12.16 LZTR1 0 genome.wustl.edu 37 22 21336843 21336843 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 22 21336843 21336843 C A SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known missense c.183 p.D61E 1.000 NULL pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 tier1 - - 45 0 0.00 20 19 48.72 MAF1 0 genome.wustl.edu 37 8 145160829 145160829 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 145160829 145160829 C G SNP MAF1 ENST00000322428 human ensembl 74_37 +1 known missense c.141 p.F47L 1.000 pfam_Maf1,pirsf_Maf1 pfam_Maf1,pirsf_Maf1 - no_errors MAF1 HGNC ENSG00000179632 tier1 - - 227 0 0.00 243 20 7.60 MAGEC1 0 genome.wustl.edu 37 X 140995043 140995043 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 140995043 140995043 G T SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.1853 p.G618V 0.634 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 327 0 0.00 481 152 24.01 MAGI1 0 genome.wustl.edu 37 3 65376868 65376868 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 65376868 65376868 G T SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known missense c.2365 p.P789T 1.000 superfamily_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 tier1 - - 170 0 0.00 94 50 34.72 MAK 0 genome.wustl.edu 37 6 10791921 10791921 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 10791921 10791921 C A SNP MAK ENST00000313243 human ensembl 74_37 -1 known missense c.1303 p.D435Y 0.913 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 MAK HGNC ENSG00000111837 tier1 rs201502742 - 87 0 0.00 69 17 19.77 MALAT1 0 genome.wustl.edu 37 11 65266460 65266460 + RNA SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 65266460 65266460 T C SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 203 0 0.00 233 21 8.27 MAP4K4 0 genome.wustl.edu 37 2 102441785 102441785 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 102441785 102441785 T G SNP MAP4K4 ENST00000324219 human ensembl 74_37 +1 known missense c.311 p.V104G 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_Citron,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 MAP4K4 HGNC ENSG00000071054 tier1 - - 36 0 0.00 20 21 51.22 MARS2 0 genome.wustl.edu 37 2 198570914 198570914 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 198570914 198570914 T C SNP MARS2 ENST00000282276 human ensembl 74_37 +1 known missense c.785 p.L262S 1.000 pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS2 HGNC ENSG00000247626 tier1 - - 151 0 0.00 77 79 50.64 MASTL 0 genome.wustl.edu 37 10 27475543 27475543 + RNA SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 10 27475543 27475543 G T SNP MASTL ENST00000477034 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MASTL HGNC ENSG00000120539 tier1 - - 67 0 0.00 37 15 28.30 MATR3 0 genome.wustl.edu 37 5 138655022 138655022 + Splice_Site SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 138655022 138655022 G C SNP MATR3 ENST00000361059 human ensembl 74_37 +1 known splice_site c.1435-1 e8-1 1.000 - - - no_errors MATR3 HGNC ENSG00000015479 tier1 - - 96 0 0.00 103 9 8.04 MC5R 0 genome.wustl.edu 37 18 13825877 13825877 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 18 13825877 13825877 T C SNP MC5R ENST00000324750 human ensembl 74_37 +1 known missense c.113 p.I38T 0.997 prints_Melancort_rcpt_5,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC5R HGNC ENSG00000176136 tier1 - - 106 0 0.00 79 7 8.14 MCFD2 0 genome.wustl.edu 37 2 47132540 47132540 + RNA SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 47132540 47132540 A C SNP MCFD2 ENST00000470873 human ensembl 74_37 -1 putative rna NULL NULL 0.008 - - - no_errors MCFD2 HGNC ENSG00000180398 tier1 - - 111 0 0.00 105 16 13.22 MEP1A 0 genome.wustl.edu 37 6 46766906 46766906 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 46766906 46766906 G T SNP MEP1A ENST00000230588 human ensembl 74_37 +1 known missense c.250 p.A84S 1.000 pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,smart_Peptidase_Metallo pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 tier1 - - 156 0 0.00 154 31 16.76 MGA 0 genome.wustl.edu 37 15 41961189 41961189 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 41961189 41961189 A T SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.97 p.N33Y 1.000 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 tier1 - - 175 0 0.00 154 10 6.10 MICALL2 0 genome.wustl.edu 37 7 1484998 1484998 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 1484998 1484998 G A SNP MICALL2 ENST00000297508 human ensembl 74_37 -1 known silent c.708 p.F236 0.732 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC ENSG00000164877 18 0 0.00 28 4 12.50 MIR4477B 0 genome.wustl.edu 37 9 68415366 68415366 + RNA SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 68415366 68415366 A T SNP MIR4477B ENST00000581659 human ensembl 74_37 +1 known rna NULL NULL 0.277 - - - no_errors MIR4477B HGNC ENSG00000266017 tier1 rs146706865 - 55 0 0.00 29 9 23.68 MIR519A1 0 genome.wustl.edu 37 19 54255697 54255697 + RNA SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 54255697 54255697 G T SNP MIR519A1 ENST00000385257 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR519A1 HGNC ENSG00000207992 tier1 - - 249 0 0.00 303 17 5.30 MIR590 0 genome.wustl.edu 37 7 73605585 73605585 + RNA SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 73605585 73605585 A C SNP MIR590 ENST00000385008 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors MIR590 HGNC ENSG00000207741 tier1 - - 146 0 0.00 144 41 22.04 MMP3 0 genome.wustl.edu 37 11 102712895 102712895 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 102712895 102712895 C A SNP MMP3 ENST00000299855 human ensembl 74_37 -1 known missense c.615 p.K205N 0.001 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP3 HGNC ENSG00000149968 tier1 - - 90 0 0.00 80 6 6.98 MOCS1 0 genome.wustl.edu 37 6 39874468 39874468 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 39874468 39874468 G C SNP MOCS1 ENST00000340692 human ensembl 74_37 -1 known missense c.1576 p.Q526E 1.000 pfam_Mopterin_CF_biosynth-C_dom,superfamily_Mopterin_CF_biosynth-C_dom,tigrfam_Mo_CF_biosynth-C pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC ENSG00000124615 tier1 - - 123 0 0.00 166 10 5.65 MORC1 0 genome.wustl.edu 37 3 108724096 108724096 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 108724096 108724096 A C SNP MORC1 ENST00000232603 human ensembl 74_37 -1 known missense c.1834 p.F612V 0.010 NULL pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 tier1 - - 93 0 0.00 61 29 32.22 MRGPRX3 0 genome.wustl.edu 37 11 18159630 18159630 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 18159630 18159630 C A SNP MRGPRX3 ENST00000396275 human ensembl 74_37 +1 known missense c.881 p.A294D 0.902 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX3 HGNC ENSG00000179826 tier1 - - 125 0 0.00 109 7 6.03 MS4A13 0 genome.wustl.edu 37 11 60296890 60296890 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 60296890 60296890 T G SNP MS4A13 ENST00000378186 human ensembl 74_37 +1 known missense c.359 p.F120C 0.003 pfam_CD20-like pfam_CD20-like - no_errors MS4A13 HGNC ENSG00000204979 tier1 - - 104 0 0.00 95 20 17.39 MST1R 0 genome.wustl.edu 37 3 49936321 49936321 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 49936321 49936321 T C SNP MST1R ENST00000296474 human ensembl 74_37 -1 known silent c.1527 p.L509 0.193 pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Semap_dom,pfscan_Semap_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 tier1 - - 171 0 0.00 130 14 9.72 MT-CO1 0 genome.wustl.edu 37 MT 6280 6280 + Nonsense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 MT 6280 6280 G A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known nonsense c.377 p.W126* NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 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 - - 275 0 0.00 137 170 55.37 MT-ND5 0 genome.wustl.edu 37 MT 13177 13177 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 MT 13177 13177 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.841 p.G281S NULL pfam_NADH_UbQ/plastoQ_OxRdtase,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 - - 237 0 0.00 290 27 8.49 MT-RNR1 0 genome.wustl.edu 37 MT 988 988 + RNA SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 MT 988 988 G A SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 - - 223 0 0.00 63 160 71.75 MTR 0 genome.wustl.edu 37 1 237001741 237001741 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 237001741 237001741 T G SNP MTR ENST00000366577 human ensembl 74_37 +1 known missense c.1357 p.F453V 1.000 pfam_Pterin-binding,superfamily_Dihydropteroate_synth-like,pirsf_MetH,pfscan_Pterin-binding,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 tier1 - - 179 0 0.00 138 39 21.91 MUC2 0 genome.wustl.edu 37 11 1093354 1093354 + Missense_Mutation SNP T T A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 1093354 1093354 T A SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.5173 p.S1725T 0.000 NULL 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 18 0 0.00 20 6 23.08 MUC4 0 genome.wustl.edu 37 3 195510156 195510156 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 195510156 195510156 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.8295 p.H2765 0.035 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 rs201141296 - 16 0 0.00 7 4 36.36 MYH2 0 genome.wustl.edu 37 17 10428248 10428248 + Silent SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 10428248 10428248 G T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known silent c.4797 p.I1599 0.003 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 - - 257 0 0.00 199 17 7.87 MYH9 0 genome.wustl.edu 37 22 36710282 36710282 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 22 36710282 36710282 C G SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.1462 p.E488Q 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,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 MYH9 HGNC ENSG00000100345 tier1 - - 132 0 0.00 119 33 21.71 MYLK 0 genome.wustl.edu 37 3 123419633 123419633 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 123419633 123419633 C T SNP MYLK ENST00000360304 human ensembl 74_37 -1 known silent c.2682 p.Q894 1.000 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 tier1 - - 163 0 0.00 148 12 7.50 MYO16 0 genome.wustl.edu 37 13 109318489 109318489 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 13 109318489 109318489 A G SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.218 p.D73G 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 tier1 - - 50 0 0.00 28 16 36.36 MYO3A 0 genome.wustl.edu 37 10 26463103 26463103 + Nonsense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 10 26463103 26463103 G T SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known nonsense c.3910 p.E1304* 0.283 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 tier1 - - 170 0 0.00 148 8 5.13 MYO3B 0 genome.wustl.edu 37 2 171509511 171509511 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 171509511 171509511 T G SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known missense c.3933 p.D1311E 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 tier1 - - 181 0 0.00 172 12 6.52 MYO5A 0 genome.wustl.edu 37 15 52702548 52702548 + Missense_Mutation SNP T T A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 52702548 52702548 T A SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known missense c.738 p.K246N 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 tier1 - - 193 0 0.00 151 21 12.21 MYO7B 0 genome.wustl.edu 37 2 128341753 128341753 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 128341753 128341753 A T SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.1400 p.Q467L 0.980 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 tier1 - - 47 0 0.00 51 10 16.39 MYOM2 0 genome.wustl.edu 37 8 2054318 2054318 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 2054318 2054318 T G SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.2929 p.L977V 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 tier1 - - 97 0 0.00 75 21 21.88 NAA30 0 genome.wustl.edu 37 14 57858356 57858356 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 57858356 57858356 C A SNP NAA30 ENST00000556492 human ensembl 74_37 +1 known silent c.681 p.I227 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA30 HGNC ENSG00000139977 tier1 - - 458 0 0.00 362 30 7.65 NALCN 0 genome.wustl.edu 37 13 101797234 101797234 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 13 101797234 101797234 T C SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.1853 p.E618G 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 tier1 - - 284 0 0.00 101 148 59.44 NAMPT 0 genome.wustl.edu 37 7 105894936 105894936 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 105894936 105894936 C A SNP NAMPT ENST00000222553 human ensembl 74_37 -1 known missense c.1104 p.M368I 1.000 pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase - no_errors NAMPT HGNC ENSG00000105835 tier1 - - 118 0 0.00 124 15 10.79 NLRP4 0 genome.wustl.edu 37 19 56372862 56372862 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 56372862 56372862 T C SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known missense c.1967 p.V656A 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 tier1 - - 130 0 0.00 156 23 12.85 NLRP9 0 genome.wustl.edu 37 19 56226483 56226483 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 56226483 56226483 A G SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known silent c.2439 p.D813 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 tier1 - - 146 0 0.00 153 12 7.27 NRG1 0 genome.wustl.edu 37 8 32620762 32620762 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 32620762 32620762 G T SNP NRG1 ENST00000521670 human ensembl 74_37 +1 known missense c.1295 p.R432I 1.000 NULL pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 tier1 - - 159 0 0.00 115 39 25.32 OBSCN 0 genome.wustl.edu 37 1 228433248 228433248 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 228433248 228433248 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3616 p.L1206V 0.992 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 121 0 0.00 142 11 7.14 OLFM4 0 genome.wustl.edu 37 13 53616108 53616108 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 13 53616108 53616108 A G SNP OLFM4 ENST00000219022 human ensembl 74_37 +1 known missense c.421 p.I141V 0.000 NULL pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM4 HGNC ENSG00000102837 tier1 - - 104 0 0.00 93 5 5.05 OPRK1 0 genome.wustl.edu 37 8 54163481 54163481 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 54163481 54163481 G A SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known silent c.117 p.N39 0.127 prints_Kappa_opi_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 tier1 rs200733685 - 37 0 0.00 36 6 14.29 OR2J3 0 genome.wustl.edu 37 6 29080404 29080404 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 29080404 29080404 C T SNP OR2J3 ENST00000377169 human ensembl 74_37 +1 known missense c.737 p.A246V 0.940 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2J3 HGNC ENSG00000204701 tier1 - - 161 0 0.00 190 10 5.00 OR4N2 0 genome.wustl.edu 37 14 20295809 20295809 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 20295809 20295809 T G SNP OR4N2 ENST00000315947 human ensembl 74_37 +1 known missense c.202 p.F68V 0.997 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 OR4N2 HGNC ENSG00000176294 tier1 - - 322 0 0.00 301 35 10.42 OR51A7 0 genome.wustl.edu 37 11 4928716 4928716 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 4928716 4928716 C A SNP OR51A7 ENST00000359350 human ensembl 74_37 +1 known silent c.117 p.I39 0.025 pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR51A7 HGNC ENSG00000176895 tier1 - - 132 0 0.00 54 58 51.79 OR51A7 0 genome.wustl.edu 37 11 4929092 4929092 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 4929092 4929092 A G SNP OR51A7 ENST00000359350 human ensembl 74_37 +1 known missense c.493 p.R165G 0.086 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR51A7 HGNC ENSG00000176895 tier1 - - 142 0 0.00 93 11 10.58 OR51F2 0 genome.wustl.edu 37 11 4842733 4842733 + Missense_Mutation SNP T T A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 4842733 4842733 T A SNP OR51F2 ENST00000322110 human ensembl 74_37 +1 known missense c.118 p.W40R 0.973 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51F2 HGNC ENSG00000176925 tier1 - - 394 0 0.00 216 75 25.77 OR6K6 0 genome.wustl.edu 37 1 158725382 158725382 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 158725382 158725382 A G SNP OR6K6 ENST00000368144 human ensembl 74_37 +1 known silent c.777 p.E259 0.014 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K6 HGNC ENSG00000180433 tier1 - - 181 0 0.00 195 14 6.70 OR7E24 0 genome.wustl.edu 37 19 9361740 9361741 + Frame_Shift_Ins INS - - T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 9361740 9361741 - T INS OR7E24 ENST00000456448 human ensembl 74_37 +1 known frame_shift_ins c.21_22 p.F11fs 0.000:0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 tier1 26 0 0.00 33 2 5.71 OR8D1 0 genome.wustl.edu 37 11 124180354 124180354 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 124180354 124180354 G T SNP OR8D1 ENST00000357821 human ensembl 74_37 -1 known missense c.309 p.F103L 0.993 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D1 HGNC ENSG00000196341 tier1 - - 72 0 0.00 41 22 34.92 OSBPL6 0 genome.wustl.edu 37 2 179260189 179260189 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 179260189 179260189 A G SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.2720 p.D907G 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 tier1 - - 61 0 0.00 52 42 44.68 OTOF 0 genome.wustl.edu 37 2 26687825 26687825 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 26687825 26687825 T G SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.4872 p.K1624N 0.999 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 tier1 - - 91 0 0.00 106 10 8.62 PALM2-AKAP2 0 genome.wustl.edu 37 9 112898869 112898869 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 112898869 112898869 A G SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known missense c.1045 p.S349G 0.060 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 tier1 - - 109 0 0.00 107 7 6.14 PARN 0 genome.wustl.edu 37 16 14704658 14704658 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 14704658 14704658 A T SNP PARN ENST00000437198 human ensembl 74_37 -1 known missense c.397 p.Y133N 1.000 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,pfam_PolyA-riboNase_RNA_binding,pfam_R3H_ss-bd,superfamily_RNaseH-like_dom,pfscan_R3H_ss-bd - no_errors PARN HGNC ENSG00000140694 tier1 - - 117 0 0.00 119 8 6.25 PAX3 0 genome.wustl.edu 37 2 223066836 223066836 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 223066836 223066836 G A SNP PAX3 ENST00000392069 human ensembl 74_37 -1 known missense c.1247 p.T416I 1.000 NULL pfam_Paired_dom,pfam_Pax7,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 tier1 - - 55 0 0.00 39 5 11.36 PCDH9 0 genome.wustl.edu 37 13 67802315 67802316 + Frame_Shift_Ins INS - - A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 13 67802315 67802316 - A INS PCDH9 ENST00000377865 human ensembl 74_37 -1 known frame_shift_ins c.258_257 p.T87fs 1.000:1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 89 0 0.00 51 39 43.33 PCDHA12 0 genome.wustl.edu 37 5 140256389 140256389 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 140256389 140256389 G T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.1332 p.E444D 0.029 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 tier1 - - 322 0 0.00 211 27 11.34 PCDHB1 0 genome.wustl.edu 37 5 140433053 140433053 + Silent SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 140433053 140433053 C G SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known silent c.1998 p.G666 1.000 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 tier1 - - 283 0 0.00 159 25 13.59 PCDHGA1 0 genome.wustl.edu 37 5 140711041 140711041 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 140711041 140711041 G C SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known missense c.790 p.V264L 0.829 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 tier1 - - 108 0 0.00 75 9 10.71 PCDHGC4 0 genome.wustl.edu 37 5 140865468 140865468 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 140865468 140865468 A G SNP PCDHGC4 ENST00000306593 human ensembl 74_37 +1 known missense c.728 p.Q243R 1.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC4 HGNC ENSG00000242419 tier1 - - 120 0 0.00 86 9 9.47 PCED1B 0 genome.wustl.edu 37 12 47628868 47628868 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 47628868 47628868 G A SNP PCED1B ENST00000432328 human ensembl 74_37 +1 known missense c.22 p.E8K 0.972 NULL NULL - no_errors PCED1B HGNC ENSG00000179715 tier1 - - 93 0 0.00 47 44 48.35 PCYT2 0 genome.wustl.edu 37 17 79864015 79864015 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 79864015 79864015 C T SNP PCYT2 ENST00000538721 human ensembl 74_37 -1 known missense c.852 p.M284I 1.000 pfam_Cyt_trans-like,tigrfam_Cyt_trans-like pfam_Cyt_trans-like,tigrfam_Cyt_trans-like - no_errors PCYT2 HGNC ENSG00000185813 tier1 - - 36 0 0.00 43 5 10.20 PDE1C 0 genome.wustl.edu 37 7 31912947 31912947 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 31912947 31912947 G T SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known missense c.567 p.F189L 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 tier1 - - 118 0 0.00 103 8 7.21 PDE3A 0 genome.wustl.edu 37 12 20833037 20833037 + Nonsense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 20833037 20833037 G A SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known nonsense c.3258 p.W1086* 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 tier1 - - 162 0 0.00 135 8 5.59 PDE6C 0 genome.wustl.edu 37 10 95400246 95400246 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 10 95400246 95400246 C A SNP PDE6C ENST00000371447 human ensembl 74_37 +1 known silent c.1669 p.R557 1.000 prints_PDEase pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6C HGNC ENSG00000095464 tier1 - - 239 0 0.00 179 21 10.50 PDZRN4 0 genome.wustl.edu 37 12 41582776 41582776 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 41582776 41582776 G A SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known silent c.519 p.A173 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 tier1 - - 8 0 0.00 1 7 87.50 PDZRN4 0 genome.wustl.edu 37 12 41967584 41967584 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 41967584 41967584 G T SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known missense c.3003 p.K1001N 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 tier1 - - 63 0 0.00 43 8 15.69 PEX5L 0 genome.wustl.edu 37 3 179529623 179529623 + Nonsense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 179529623 179529623 C A SNP PEX5L ENST00000467460 human ensembl 74_37 -1 known nonsense c.1120 p.E374* 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 tier1 - - 139 0 0.00 123 63 33.87 PGLYRP3 0 genome.wustl.edu 37 1 153279729 153279729 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 153279729 153279729 C T SNP PGLYRP3 ENST00000290722 human ensembl 74_37 -1 known missense c.70 p.V24I 0.001 superfamily_Amidase_domain,smart_PGRP_domain_met/bac pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP3 HGNC ENSG00000159527 tier1 - - 15 0 0.00 25 10 28.57 PHF1 0 genome.wustl.edu 37 6 33381854 33381854 + Silent SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 33381854 33381854 C G SNP PHF1 ENST00000374516 human ensembl 74_37 +1 known silent c.720 p.G240 0.999 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF1 HGNC ENSG00000112511 tier1 - - 176 0 0.00 122 75 37.69 PI4KAP1 0 genome.wustl.edu 37 22 20394552 20394552 + RNA SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 22 20394552 20394552 A G SNP PI4KAP1 ENST00000416922 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PI4KAP1 HGNC ENSG00000215513 tier1 - - 102 0 0.00 111 15 11.90 PIGG 0 genome.wustl.edu 37 4 515550 515550 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 515550 515550 G C SNP PIGG ENST00000453061 human ensembl 74_37 +1 known missense c.1434 p.L478F 0.594 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 tier1 - - 108 0 0.00 104 7 6.31 PIP5K1C 0 genome.wustl.edu 37 19 3656550 3656550 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 3656550 3656550 G A SNP PIP5K1C ENST00000537021 human ensembl 74_37 -1 known silent c.474 p.S158 0.892 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 tier1 - - 125 0 0.00 84 11 11.58 PKLR 0 genome.wustl.edu 37 1 155264506 155264506 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 155264506 155264506 G A SNP PKLR ENST00000342741 human ensembl 74_37 -1 known silent c.732 p.G244 0.018 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase-like_insert_dom,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 tier1 - - 54 0 0.00 66 6 8.33 PKM 0 genome.wustl.edu 37 15 72502067 72502067 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 72502067 72502067 C T SNP PKM ENST00000319622 human ensembl 74_37 -1 known missense c.512 p.G171D 1.000 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase-like_insert_dom,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKM HGNC ENSG00000067225 tier1 - - 265 0 0.00 200 42 17.36 PLA2R1 0 genome.wustl.edu 37 2 160804011 160804011 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 160804011 160804011 A T SNP PLA2R1 ENST00000283243 human ensembl 74_37 -1 known missense c.3769 p.F1257I 1.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 tier1 - - 138 0 0.00 84 78 48.15 PLCG2 0 genome.wustl.edu 37 16 81965124 81965124 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 81965124 81965124 C A SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known missense c.2604 p.N868K 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl,smart_Pleckstrin_homology,pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 tier1 - - 130 0 0.00 96 24 20.00 PLCL1 0 genome.wustl.edu 37 2 198949122 198949122 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 198949122 198949122 T C SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.881 p.L294P 0.997 NULL 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 - - 191 0 0.00 185 17 8.42 PLCZ1 0 genome.wustl.edu 37 12 18847941 18847941 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 18847941 18847941 G A SNP PLCZ1 ENST00000266505 human ensembl 74_37 -1 known missense c.1364 p.S455F 1.000 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y 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_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCZ1 HGNC ENSG00000139151 tier1 - - 96 0 0.00 86 9 9.47 PLEKHA8 0 genome.wustl.edu 37 7 30094403 30094403 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 30094403 30094403 A G SNP PLEKHA8 ENST00000449726 human ensembl 74_37 +1 known missense c.875 p.D292G 0.031 NULL pfam_Glycolipid_transfer_prot_dom,pfam_Pleckstrin_homology,superfamily_Glycolipid_transfer_prot_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA8 HGNC ENSG00000106086 tier1 - - 175 0 0.00 198 12 5.71 POLD2 0 genome.wustl.edu 37 7 44154990 44154992 + In_Frame_Del DEL AAC AAC - TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 44154990 44154992 AAC - DEL POLD2 ENST00000406581 human ensembl 74_37 -1 known in_frame_del c.1153_1151 p.C384in_frame_del 1.000:0.970:1.000 pfam_DNA_pol_alpha/epsilon_bsu pfam_DNA_pol_alpha/epsilon_bsu - no_errors POLD2 HGNC ENSG00000106628 tier1 126 0 0.00 105 23 17.97 POLE 0 genome.wustl.edu 37 12 133202885 133202885 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 133202885 133202885 T C SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.6349 p.N2117D 0.995 NULL pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 tier1 - - 107 0 0.00 66 17 20.48 POTEJ 0 genome.wustl.edu 37 2 131414419 131414419 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 131414419 131414419 T C SNP POTEJ ENST00000409602 human ensembl 74_37 +1 novel missense c.2086 p.S696P 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEJ HGNC ENSG00000222038 tier1 - - 172 0 0.00 127 26 16.99 PPIL1 0 genome.wustl.edu 37 6 36839501 36839501 + Silent SNP T T A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 36839501 36839501 T A SNP PPIL1 ENST00000373699 human ensembl 74_37 -1 known silent c.204 p.T68 0.868 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL1 HGNC ENSG00000137168 tier1 - - 198 0 0.00 242 18 6.92 PPP1R12C 0 genome.wustl.edu 37 19 55614869 55614869 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 55614869 55614869 C T SNP PPP1R12C ENST00000263433 human ensembl 74_37 -1 known silent c.639 p.L213 0.996 pirsf_Pase-1_reg_su_12A/B/C_euk,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12C HGNC ENSG00000125503 tier1 - - 111 0 0.00 116 14 10.77 PREX1 0 genome.wustl.edu 37 20 47351100 47351100 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 47351100 47351100 C A SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known missense c.502 p.V168L 0.987 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 tier1 - - 314 0 0.00 375 23 5.78 PROKR2 0 genome.wustl.edu 37 20 5283350 5283350 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 5283350 5283350 C T SNP PROKR2 ENST00000217270 human ensembl 74_37 -1 known missense c.491 p.R164Q 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 tier1 - - 170 0 0.00 107 61 36.31 PRRC2B 0 genome.wustl.edu 37 9 134322566 134322566 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 134322566 134322566 G T SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.950 p.R317I 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 tier1 - - 78 0 0.00 75 11 12.79 PRSS36 0 genome.wustl.edu 37 16 31151686 31151686 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 31151686 31151686 G A SNP PRSS36 ENST00000268281 human ensembl 74_37 -1 known missense c.2218 p.L740F 1.000 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS36 HGNC ENSG00000178226 tier1 - - 121 0 0.00 135 13 8.78 PRSS38 0 genome.wustl.edu 37 1 228004950 228004950 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 228004950 228004950 G C SNP PRSS38 ENST00000366757 human ensembl 74_37 +1 known missense c.352 p.V118L 0.001 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS38 HGNC ENSG00000185888 tier1 - - 108 0 0.00 112 21 15.79 PRUNE 0 genome.wustl.edu 37 1 150981066 150981066 + RNA SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 150981066 150981066 A T SNP PRUNE ENST00000462440 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PRUNE HGNC ENSG00000143363 tier1 - - 223 0 0.00 324 23 6.63 PSD4 0 genome.wustl.edu 37 2 113940884 113940884 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 113940884 113940884 C T SNP PSD4 ENST00000245796 human ensembl 74_37 +1 known missense c.851 p.P284L 0.003 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 tier1 - - 122 0 0.00 90 7 7.22 PSG2 0 genome.wustl.edu 37 19 43576745 43576745 + RNA SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 43576745 43576745 A G SNP PSG2 ENST00000593482 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PSG2 HGNC ENSG00000242221 tier1 - - 375 0 0.00 395 33 7.69 PTCHD4 0 genome.wustl.edu 37 6 47846142 47846142 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 47846142 47846142 G A SNP PTCHD4 ENST00000339488 human ensembl 74_37 -1 known missense c.2438 p.S813F 1.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 tier1 - - 158 0 0.00 141 51 26.56 PTPRD 0 genome.wustl.edu 37 9 8471055 8471055 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 8471055 8471055 C A SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.3444 p.K1148N 1.000 NULL 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 - - 148 0 0.00 127 24 15.89 PTPRD 0 genome.wustl.edu 37 9 8471066 8471066 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 8471066 8471066 C T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.3433 p.V1145M 1.000 NULL 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 - - 128 0 0.00 102 23 18.40 PUM2 0 genome.wustl.edu 37 2 20455071 20455071 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 20455071 20455071 C T SNP PUM2 ENST00000361078 human ensembl 74_37 -1 known missense c.2660 p.C887Y 1.000 pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 tier1 - - 114 0 0.00 82 5 5.68 QRICH2 0 genome.wustl.edu 37 17 74289746 74289746 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 74289746 74289746 T C SNP QRICH2 ENST00000262765 human ensembl 74_37 -1 known silent c.564 p.R188 0.026 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 tier1 - - 110 0 0.00 128 15 10.49 RAP1GAP 0 genome.wustl.edu 37 1 21938267 21938267 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 21938267 21938267 C T SNP RAP1GAP ENST00000290101 human ensembl 74_37 -1 known missense c.847 p.A283T 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom - no_errors RAP1GAP HGNC ENSG00000076864 tier1 - - 169 0 0.00 194 16 7.62 RASGRF2 0 genome.wustl.edu 37 5 80256739 80256739 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 80256739 80256739 G A SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known missense c.182 p.R61H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 tier1 - - 63 0 0.00 39 25 38.46 RB1CC1 0 genome.wustl.edu 37 8 53573171 53573171 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 53573171 53573171 C A SNP RB1CC1 ENST00000025008 human ensembl 74_37 -1 known missense c.1674 p.W558C 1.000 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 tier1 - - 85 0 0.00 78 11 12.36 RB1CC1 0 genome.wustl.edu 37 8 53573172 53573172 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 53573172 53573172 C G SNP RB1CC1 ENST00000025008 human ensembl 74_37 -1 known missense c.1673 p.W558S 1.000 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 tier1 - - 84 0 0.00 77 10 11.49 RBBP6 0 genome.wustl.edu 37 16 24579119 24579119 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 24579119 24579119 G T SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.1959 p.K653N 1.000 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 tier1 - - 102 0 0.00 83 30 26.55 RBM39 0 genome.wustl.edu 37 20 34320013 34320013 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 34320013 34320013 C G SNP RBM39 ENST00000253363 human ensembl 74_37 -1 known missense c.146 p.R49T 1.000 tigrfam_CC1_SF pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_CC1_SF - no_errors RBM39 HGNC ENSG00000131051 tier1 - - 213 0 0.00 188 11 5.53 RBM48 0 genome.wustl.edu 37 7 92164028 92164028 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 92164028 92164028 A C SNP RBM48 ENST00000265732 human ensembl 74_37 +1 known missense c.761 p.N254T 0.000 NULL NULL - no_errors RBM48 HGNC ENSG00000127993 tier1 - - 75 0 0.00 68 21 23.60 RBPJL 0 genome.wustl.edu 37 20 43938247 43938247 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 43938247 43938247 C T SNP RBPJL ENST00000343694 human ensembl 74_37 +1 known missense c.172 p.R58C 0.994 superfamily_p53-like_TF_DNA-bd pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJL HGNC ENSG00000124232 tier1 - - 73 0 0.00 83 29 25.89 RCN1 0 genome.wustl.edu 37 11 32124736 32124736 + RNA SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 32124736 32124736 T C SNP RCN1 ENST00000532474 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RCN1 HGNC ENSG00000049449 tier1 - - 22 0 0.00 7 6 46.15 RELN 0 genome.wustl.edu 37 7 103236988 103236988 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 103236988 103236988 C T SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.3454 p.G1152S 1.000 superfamily_Growth_fac_rcpt_N_dom,superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 tier1 - - 147 0 0.00 131 38 22.49 REV3L 0 genome.wustl.edu 37 6 111695309 111695309 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 111695309 111695309 G A SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.4249 p.P1417S 0.727 superfamily_RNaseH-like_dom 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 tier1 - - 264 0 0.00 148 9 5.73 RNASEH2B 0 genome.wustl.edu 37 13 51530587 51530587 + Frame_Shift_Del DEL A A - TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 13 51530587 51530587 A - DEL RNASEH2B ENST00000336617 human ensembl 74_37 +1 known frame_shift_del c.916 p.I309fs 0.153 NULL pfam_RNase_H2_suB - no_errors RNASEH2B HGNC ENSG00000136104 tier1 27 0 0.00 22 2 8.33 RNF182 0 genome.wustl.edu 37 6 13977656 13977656 + Silent SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 13977656 13977656 A T SNP RNF182 ENST00000488300 human ensembl 74_37 +1 known silent c.306 p.P102 0.852 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF182 HGNC ENSG00000180537 tier1 - - 85 0 0.00 41 39 48.75 ROCK1P1 0 genome.wustl.edu 37 18 109192 109192 + RNA SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 18 109192 109192 T C SNP ROCK1P1 ENST00000608049 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ROCK1P1 HGNC ENSG00000263006 tier1 - - 22 0 0.00 20 4 16.67 RP1 0 genome.wustl.edu 37 8 55534839 55534839 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 55534839 55534839 A G SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.778 p.S260G 1.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 - - 113 0 0.00 88 13 12.87 RP1L1 0 genome.wustl.edu 37 8 10469415 10469415 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 10469415 10469415 G T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.2193 p.D731E 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 103 0 0.00 95 9 8.65 RPAP1 0 genome.wustl.edu 37 15 41822171 41822171 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 41822171 41822171 G T SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known missense c.950 p.A317E 0.021 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 tier1 - - 50 0 0.00 40 8 16.33 RUNDC3A 0 genome.wustl.edu 37 17 42390557 42390557 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 42390557 42390557 A C SNP RUNDC3A ENST00000426726 human ensembl 74_37 +1 known missense c.309 p.K103N 1.000 pfam_Run,pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3A HGNC ENSG00000108309 tier1 - - 111 0 0.00 92 9 8.91 RUSC2 0 genome.wustl.edu 37 9 35560741 35560741 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 35560741 35560741 G A SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known silent c.4104 p.S1368 0.003 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 tier1 - - 30 0 0.00 8 14 63.64 RYR3 0 genome.wustl.edu 37 15 33855184 33855184 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 33855184 33855184 T C SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.1119 p.T373 0.035 pfam_MIR_motif,superfamily_MIR_motif pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 171 0 0.00 94 45 32.37 SACS 0 genome.wustl.edu 37 13 23910252 23910252 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 13 23910252 23910252 A C SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.7763 p.L2588R 1.000 superfamily_HATPase_ATP-bd pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 187 0 0.00 139 12 7.95 SALL2 0 genome.wustl.edu 37 14 21992025 21992025 + Nonsense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 21992025 21992025 C A SNP SALL2 ENST00000327430 human ensembl 74_37 -1 known nonsense c.1837 p.G613* 0.995 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL2 HGNC ENSG00000165821 tier1 - - 114 0 0.00 84 9 9.68 SCAMP3 0 genome.wustl.edu 37 1 155231524 155231524 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 155231524 155231524 T C SNP SCAMP3 ENST00000302631 human ensembl 74_37 -1 known missense c.68 p.D23G 1.000 NULL pfam_SCAMP - no_errors SCAMP3 HGNC ENSG00000116521 tier1 - - 127 0 0.00 131 19 12.67 SCMH1 0 genome.wustl.edu 37 1 41512187 41512187 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 41512187 41512187 A C SNP SCMH1 ENST00000326197 human ensembl 74_37 -1 known missense c.1360 p.C454G 1.000 pfam_DUF3588 pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors SCMH1 HGNC ENSG00000010803 tier1 - - 123 0 0.00 117 22 15.83 SCML4 0 genome.wustl.edu 37 6 108041883 108041883 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 108041883 108041883 A G SNP SCML4 ENST00000369021 human ensembl 74_37 -1 known missense c.910 p.S304P 0.001 NULL pfam_DUF3588 - no_errors SCML4 HGNC ENSG00000146285 tier1 - - 341 0 0.00 213 28 11.57 SCN3A 0 genome.wustl.edu 37 2 165947640 165947640 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 165947640 165947640 A T SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.5023 p.S1675T 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 tier1 - - 210 0 0.00 204 16 7.27 SCN5A 0 genome.wustl.edu 37 3 38647601 38647601 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 38647601 38647601 G T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.1179 p.F393L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 tier1 - - 94 0 0.00 59 8 11.94 SCNN1G 0 genome.wustl.edu 37 16 23224207 23224207 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 23224207 23224207 G A SNP SCNN1G ENST00000300061 human ensembl 74_37 +1 known missense c.1423 p.V475I 0.810 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 tier1 - - 93 0 0.00 89 9 9.18 SDK2 0 genome.wustl.edu 37 17 71394234 71394234 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 71394234 71394234 C A SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known missense c.3294 p.M1098I 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 tier1 - - 44 0 0.00 48 19 28.36 SEC14L4 0 genome.wustl.edu 37 22 30890901 30890901 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 22 30890901 30890901 C A SNP SEC14L4 ENST00000255858 human ensembl 74_37 -1 known silent c.471 p.G157 0.918 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L4 HGNC ENSG00000133488 tier1 - - 142 0 0.00 128 34 20.99 SEC22B 0 genome.wustl.edu 37 1 145116781 145116781 + RNA SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 145116781 145116781 C T SNP SEC22B ENST00000453618 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SEC22B HGNC ENSG00000223380 tier1 - - 14 0 0.00 3 7 70.00 SEC23B 0 genome.wustl.edu 37 20 18541299 18541299 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 18541299 18541299 C G SNP SEC23B ENST00000262544 human ensembl 74_37 +1 known missense c.2219 p.T740S 0.998 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23B HGNC ENSG00000101310 tier1 - - 104 0 0.00 137 8 5.52 SEMA3E 0 genome.wustl.edu 37 7 83029445 83029445 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 83029445 83029445 G T SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known missense c.1265 p.P422Q 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 tier1 - - 166 0 0.00 202 14 6.48 SERTAD4 0 genome.wustl.edu 37 1 210415406 210415406 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 210415406 210415406 C A SNP SERTAD4 ENST00000367012 human ensembl 74_37 +1 known silent c.795 p.I265 0.995 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD4 HGNC ENSG00000082497 tier1 - - 99 0 0.00 27 21 43.75 SEZ6 0 genome.wustl.edu 37 17 27284559 27284559 + Splice_Site SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 27284559 27284559 T G SNP SEZ6 ENST00000317338 human ensembl 74_37 -1 known splice_site c.2303-2 e12-2 0.858 - - - no_errors SEZ6 HGNC ENSG00000063015 tier1 - - 33 0 0.00 14 14 50.00 SGIP1 0 genome.wustl.edu 37 1 67099768 67099769 + Frame_Shift_Ins INS - - A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 67099768 67099769 - A INS SGIP1 ENST00000237247 human ensembl 74_37 +1 known frame_shift_ins c.105_106 p.T38fs 1.000:0.997 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 tier1 30 0 0.00 19 11 36.67 SIGLEC6 0 genome.wustl.edu 37 19 52033998 52033998 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 52033998 52033998 A T SNP SIGLEC6 ENST00000425629 human ensembl 74_37 -1 known missense c.643 p.C215S 0.993 pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC6 HGNC ENSG00000105492 tier1 - - 166 0 0.00 167 38 18.54 SIPA1L1 0 genome.wustl.edu 37 14 72138037 72138037 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 72138037 72138037 G T SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.2457 p.K819N 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 - - 100 0 0.00 68 6 8.11 SKIV2L 0 genome.wustl.edu 37 6 31937121 31937121 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 31937121 31937121 A G SNP SKIV2L ENST00000375394 human ensembl 74_37 +1 known missense c.3464 p.N1155S 0.932 pfam_DSH_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L HGNC ENSG00000204351 tier1 - - 89 0 0.00 42 57 57.58 SLC12A2 0 genome.wustl.edu 37 5 127520415 127520415 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 127520415 127520415 T G SNP SLC12A2 ENST00000509205 human ensembl 74_37 +1 known missense c.3436 p.F1146V 0.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC ENSG00000064651 tier1 - - 86 0 0.00 45 24 34.78 SLC15A1 0 genome.wustl.edu 37 13 99376174 99376174 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 13 99376174 99376174 A G SNP SLC15A1 ENST00000376503 human ensembl 74_37 -1 known silent c.357 p.P119 0.000 pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A1 HGNC ENSG00000088386 tier1 rs141852331 - 69 0 0.00 101 11 9.82 SLC19A3 0 genome.wustl.edu 37 2 228563931 228563931 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 228563931 228563931 A G SNP SLC19A3 ENST00000258403 human ensembl 74_37 -1 known missense c.500 p.M167T 0.010 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC ENSG00000135917 tier1 - - 224 0 0.00 176 15 7.85 SLC22A8 0 genome.wustl.edu 37 11 62760955 62760955 + Silent SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 62760955 62760955 G T SNP SLC22A8 ENST00000336232 human ensembl 74_37 -1 known silent c.1470 p.L490 0.995 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A8 HGNC ENSG00000149452 tier1 rs138015796 - 164 0 0.00 170 12 6.56 SLC24A5 0 genome.wustl.edu 37 15 48434314 48434314 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 48434314 48434314 A G SNP SLC24A5 ENST00000341459 human ensembl 74_37 +1 known silent c.1269 p.A423 0.928 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A5 HGNC ENSG00000188467 tier1 - - 169 0 0.00 129 12 8.51 SLC25A14 0 genome.wustl.edu 37 X 129480611 129480611 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 129480611 129480611 T G SNP SLC25A14 ENST00000339231 human ensembl 74_37 +1 known missense c.254 p.F85C 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A14 HGNC ENSG00000102078 tier1 - - 118 0 0.00 82 40 32.79 SLC25A24 0 genome.wustl.edu 37 1 108703824 108703824 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 108703824 108703824 G A SNP SLC25A24 ENST00000565488 human ensembl 74_37 -1 known missense c.490 p.R164C 0.742 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A24 HGNC ENSG00000085491 tier1 rs151259113 - 102 0 0.00 83 16 16.16 SLC2A5 0 genome.wustl.edu 37 1 9097748 9097748 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 9097748 9097748 A C SNP SLC2A5 ENST00000377424 human ensembl 74_37 -1 known missense c.1403 p.F468C 0.990 pfam_Sub_transporter,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Fru_transpt_5,tigrfam_Sugar/inositol_transpt - no_errors SLC2A5 HGNC ENSG00000142583 tier1 - - 249 0 0.00 187 51 21.43 SLC5A11 0 genome.wustl.edu 37 16 24881234 24881234 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 24881234 24881234 T C SNP SLC5A11 ENST00000347898 human ensembl 74_37 +1 known silent c.220 p.L74 0.998 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC ENSG00000158865 tier1 - - 75 0 0.00 55 23 29.49 SLC9B1 0 genome.wustl.edu 37 4 103831632 103831632 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 103831632 103831632 C A SNP SLC9B1 ENST00000296422 human ensembl 74_37 -1 known missense c.1050 p.L350F 0.002 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors SLC9B1 HGNC ENSG00000164037 tier1 - - 81 0 0.00 29 45 60.81 SLCO3A1 0 genome.wustl.edu 37 15 92706132 92706132 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 92706132 92706132 A G SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known missense c.1900 p.K634E 1.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 tier1 - - 150 0 0.00 138 19 12.03 SLITRK6 0 genome.wustl.edu 37 13 86370594 86370594 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 13 86370594 86370594 G T SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.50 p.S17Y 0.993 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 tier1 - - 95 0 0.00 48 93 65.96 SMC3 0 genome.wustl.edu 37 10 112338459 112338459 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 10 112338459 112338459 G A SNP SMC3 ENST00000361804 human ensembl 74_37 +1 known missense c.424 p.G142R 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 tier1 - - 28 0 0.00 16 6 27.27 SMCO1 0 genome.wustl.edu 37 3 196234881 196234881 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 196234881 196234881 C A SNP SMCO1 ENST00000397537 human ensembl 74_37 -1 known missense c.522 p.K174N 1.000 NULL NULL - no_errors SMCO1 HGNC ENSG00000214097 tier1 - - 115 0 0.00 155 10 6.06 SNHG14 0 genome.wustl.edu 37 15 25444423 25444423 + RNA SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 25444423 25444423 G T SNP SNHG14 ENST00000424208 human ensembl 74_37 +1 known rna NULL NULL 0.049 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 45 0 0.00 14 7 33.33 SNORD115-42 0 genome.wustl.edu 37 15 25492563 25492563 + RNA SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 25492563 25492563 C T SNP SNORD115-42 ENST00000364273 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors SNORD115-42 HGNC ENSG00000201143 tier1 rs200006860 - 509 0 0.00 242 150 38.27 SNRNP40 0 genome.wustl.edu 37 1 31734531 31734531 + RNA SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 31734531 31734531 G A SNP SNRNP40 ENST00000486941 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SNRNP40 HGNC ENSG00000060688 tier1 - - 22 0 0.00 11 11 50.00 SOX14 0 genome.wustl.edu 37 3 137483701 137483701 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 137483701 137483701 G T SNP SOX14 ENST00000306087 human ensembl 74_37 +1 known missense c.75 p.K25N 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX14 HGNC ENSG00000168875 tier1 - - 114 0 0.00 88 44 33.33 SOX7 0 genome.wustl.edu 37 8 10587797 10587797 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 10587797 10587797 C A SNP SOX7 ENST00000304501 human ensembl 74_37 -1 known missense c.147 p.M49I 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 tier1 - - 82 0 0.00 108 17 13.60 SP100 0 genome.wustl.edu 37 2 231331838 231331838 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 231331838 231331838 T C SNP SP100 ENST00000340126 human ensembl 74_37 +1 known missense c.1199 p.I400T 0.004 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 tier1 - - 272 0 0.00 251 14 5.28 SPACA3 0 genome.wustl.edu 37 17 31324506 31324506 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 31324506 31324506 G A SNP SPACA3 ENST00000269053 human ensembl 74_37 +1 known missense c.546 p.M182I 1.000 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors SPACA3 HGNC ENSG00000141316 tier1 - - 298 0 0.00 272 31 10.23 SPATA25 0 genome.wustl.edu 37 20 44515369 44515369 + Silent SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 44515369 44515369 G C SNP SPATA25 ENST00000372519 human ensembl 74_37 -1 known silent c.471 p.L157 1.000 NULL NULL - no_errors SPATA25 HGNC ENSG00000149634 tier1 - - 152 0 0.00 197 13 6.16 SPATA31D1 0 genome.wustl.edu 37 9 84607732 84607732 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 84607732 84607732 G T SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.2347 p.D783Y 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 tier1 - - 124 0 0.00 117 7 5.65 SPEF2 0 genome.wustl.edu 37 5 35763686 35763686 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 35763686 35763686 A C SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.3683 p.K1228T 0.010 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 tier1 - - 114 0 0.00 112 10 8.20 SSTR1 0 genome.wustl.edu 37 14 38678730 38678730 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 38678730 38678730 T C SNP SSTR1 ENST00000267377 human ensembl 74_37 +1 known missense c.136 p.S46P 0.026 prints_Somatstn_rcpt_1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt - no_errors SSTR1 HGNC ENSG00000139874 tier1 - - 61 0 0.00 22 23 50.00 ST6GAL2 0 genome.wustl.edu 37 2 107459501 107459501 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 107459501 107459501 G A SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known silent c.933 p.G311 0.925 pfam_Glyco_trans_29 pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 tier1 - - 34 0 0.00 13 8 38.10 STAB1 0 genome.wustl.edu 37 3 52540765 52540765 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 52540765 52540765 G A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.1888 p.A630T 0.935 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,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 tier1 - - 66 0 0.00 47 10 17.54 STAB2 0 genome.wustl.edu 37 12 104083643 104083643 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 104083643 104083643 C A SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.3065 p.T1022K 0.562 pfam_FAS1_domain,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,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 - - 146 0 0.00 127 22 14.77 STAT1 0 genome.wustl.edu 37 2 191841684 191841684 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 191841684 191841684 G A SNP STAT1 ENST00000361099 human ensembl 74_37 -1 known silent c.1941 p.I647 0.993 pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC ENSG00000115415 tier1 - - 118 0 0.00 158 15 8.67 SUGP2 0 genome.wustl.edu 37 19 19136841 19136841 + Nonsense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 19136841 19136841 C A SNP SUGP2 ENST00000337018 human ensembl 74_37 -1 known nonsense c.316 p.E106* 0.993 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 tier1 - - 178 0 0.00 84 103 55.08 SUMF2 0 genome.wustl.edu 37 7 56141899 56141899 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 56141899 56141899 A G SNP SUMF2 ENST00000342190 human ensembl 74_37 +1 known silent c.429 p.A143 0.894 pfam_FGE_dom,superfamily_C-type_lectin_fold pfam_FGE_dom,superfamily_C-type_lectin_fold - no_errors SUMF2 HGNC ENSG00000129103 tier1 - - 239 0 0.00 159 94 37.01 SUSD1 0 genome.wustl.edu 37 9 114919827 114919827 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 114919827 114919827 C A SNP SUSD1 ENST00000374264 human ensembl 74_37 -1 known missense c.170 p.C57F 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD1 HGNC ENSG00000106868 tier1 - - 62 0 0.00 48 15 23.81 SYNE3 0 genome.wustl.edu 37 14 95905454 95905454 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 95905454 95905454 C T SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known silent c.2292 p.G764 0.449 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 tier1 - - 438 0 0.00 254 89 25.95 SYNM 0 genome.wustl.edu 37 15 99670191 99670191 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 99670191 99670191 G T SNP SYNM ENST00000336292 human ensembl 74_37 +1 known missense c.1623 p.L541F 0.769 NULL pfam_IF - no_errors SYNM HGNC ENSG00000182253 tier1 - - 38 0 0.00 26 8 23.53 SYT11 0 genome.wustl.edu 37 1 155850290 155850290 + Splice_Site SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 155850290 155850290 G T SNP SYT11 ENST00000368324 human ensembl 74_37 +1 known splice_site c.862-1 e3-1 1.000 - - - no_errors SYT11 HGNC ENSG00000132718 tier1 - - 51 0 0.00 67 7 9.46 TACC2 0 genome.wustl.edu 37 10 123843336 123843336 + Missense_Mutation SNP T T A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 10 123843336 123843336 T A SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.1321 p.S441T 0.003 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 tier1 - - 163 0 0.00 191 11 5.45 TAF1L 0 genome.wustl.edu 37 9 32631412 32631412 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 32631412 32631412 G A SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.4166 p.P1389L 1.000 pirsf_TAF1_animal,superfamily_Bromodomain 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 - - 306 0 0.00 215 85 28.24 TCF7L2 0 genome.wustl.edu 37 10 114903766 114903766 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 10 114903766 114903766 T G SNP TCF7L2 ENST00000355995 human ensembl 74_37 +1 known missense c.770 p.L257R 1.000 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L2 HGNC ENSG00000148737 tier1 - - 74 0 0.00 68 23 25.27 TCOF1 0 genome.wustl.edu 37 5 149754318 149754318 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 149754318 149754318 G A SNP TCOF1 ENST00000451292 human ensembl 74_37 +1 known missense c.1222 p.E408K 0.002 pfam_TCS_treacle pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 57 0 0.00 52 5 8.77 TECTA 0 genome.wustl.edu 37 11 121008198 121008198 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 121008198 121008198 A T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.3010 p.T1004S 1.000 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 112 0 0.00 92 38 28.79 TECTA 0 genome.wustl.edu 37 11 121008393 121008393 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 121008393 121008393 A G SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.3205 p.R1069G 1.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 90 0 0.00 67 23 25.56 TECTA 0 genome.wustl.edu 37 11 121023711 121023711 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 121023711 121023711 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known silent c.4227 p.D1409 0.966 pfam_TIL_dom,superfamily_TIL_dom,smart_EG-like_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 70 0 0.00 54 20 27.03 TECTB 0 genome.wustl.edu 37 10 114061882 114061882 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 10 114061882 114061882 A C SNP TECTB ENST00000369422 human ensembl 74_37 +1 known missense c.931 p.S311R 0.777 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TECTB HGNC ENSG00000119913 tier1 - - 200 0 0.00 195 28 12.56 TEKT1 0 genome.wustl.edu 37 17 6733513 6733513 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 6733513 6733513 C A SNP TEKT1 ENST00000338694 human ensembl 74_37 -1 known missense c.183 p.K61N 1.000 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT1 HGNC ENSG00000167858 tier1 - - 94 0 0.00 45 44 49.44 TENM1 0 genome.wustl.edu 37 X 123785795 123785795 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 123785795 123785795 C T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.1548 p.M516I 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 tier1 - - 94 0 0.00 97 10 9.35 TEX2 0 genome.wustl.edu 37 17 62290742 62290742 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 62290742 62290742 T C SNP TEX2 ENST00000258991 human ensembl 74_37 -1 known missense c.836 p.K279R 1.000 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 tier1 - - 110 0 0.00 114 8 6.56 TIAM2 0 genome.wustl.edu 37 6 155561783 155561783 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 155561783 155561783 T C SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known silent c.3288 p.D1096 0.960 superfamily_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 tier1 - - 99 0 0.00 110 11 9.09 TKT 0 genome.wustl.edu 37 3 53265525 53265525 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 53265525 53265525 T G SNP TKT ENST00000423525 human ensembl 74_37 -1 known missense c.790 p.K264Q 1.000 pfam_Transketolase_N pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKT HGNC ENSG00000163931 tier1 - - 107 0 0.00 71 6 7.79 TMCC3 0 genome.wustl.edu 37 12 94975461 94975461 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 94975461 94975461 A C SNP TMCC3 ENST00000261226 human ensembl 74_37 -1 known missense c.932 p.L311R 0.972 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC3 HGNC ENSG00000057704 tier1 - - 132 0 0.00 71 58 44.96 TMEM133 0 genome.wustl.edu 37 11 100863338 100863338 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 100863338 100863338 C G SNP TMEM133 ENST00000303130 human ensembl 74_37 +1 known missense c.299 p.T100S 0.000 NULL NULL - no_errors TMEM133 HGNC ENSG00000170647 tier1 - - 223 0 0.00 121 58 32.40 TMEM136 0 genome.wustl.edu 37 11 120201046 120201046 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 120201046 120201046 C G SNP TMEM136 ENST00000314475 human ensembl 74_37 +1 known missense c.626 p.P209R 1.000 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TMEM136 HGNC ENSG00000181264 tier1 - - 24 0 0.00 21 6 22.22 TMEM245 0 genome.wustl.edu 37 9 111798579 111798579 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 111798579 111798579 G A SNP TMEM245 ENST00000374586 human ensembl 74_37 -1 known missense c.2306 p.T769I 0.986 pfam_UPF0118 pfam_UPF0118 - no_errors TMEM245 HGNC ENSG00000106771 tier1 - - 64 0 0.00 46 13 22.03 TMEM57 0 genome.wustl.edu 37 1 25783150 25783150 + Silent SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 25783150 25783150 G T SNP TMEM57 ENST00000374343 human ensembl 74_37 +1 known silent c.480 p.G160 0.978 pfam_Macoilin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC ENSG00000204178 tier1 - - 94 0 0.00 68 5 6.85 TMEM8B 0 genome.wustl.edu 37 9 35853659 35853659 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 35853659 35853659 A T SNP TMEM8B ENST00000377988 human ensembl 74_37 +1 known missense c.1241 p.H414L 1.000 pfam_DUF3522 pfam_DUF3522 - no_errors TMEM8B HGNC ENSG00000137103 tier1 - - 153 0 0.00 146 21 12.57 TNFSF15 0 genome.wustl.edu 37 9 117568130 117568130 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 117568130 117568130 G A SNP TNFSF15 ENST00000374045 human ensembl 74_37 -1 known missense c.163 p.L55F 0.894 NULL pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF - no_errors TNFSF15 HGNC ENSG00000181634 tier1 - - 119 0 0.00 112 8 6.67 TNRC6A 0 genome.wustl.edu 37 16 24816407 24816407 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 24816407 24816407 C G SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.4057 p.Q1353E 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 tier1 - - 185 0 0.00 221 14 5.93 TOM1 0 genome.wustl.edu 37 22 35719502 35719502 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 22 35719502 35719502 C T SNP TOM1 ENST00000411850 human ensembl 74_37 +1 known missense c.380 p.A127V 1.000 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_VHS pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC ENSG00000100284 tier1 - - 227 0 0.00 267 17 5.99 TP53 0 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 7577120 7577120 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.818 p.R273H 0.864 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934576 GMAF=0.0005 51 0 0.00 17 28 62.22 TPTE 0 genome.wustl.edu 37 21 10906885 10906885 + RNA SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 21 10906885 10906885 A C SNP TPTE ENST00000415664 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors TPTE HGNC ENSG00000166157 tier1 - - 149 0 0.00 130 10 7.14 TPTE 0 genome.wustl.edu 37 21 10908859 10908859 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 21 10908859 10908859 A G SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.1486 p.F496L 0.999 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 tier1 - - 87 0 0.00 70 5 6.67 TRAK2 0 genome.wustl.edu 37 2 202252648 202252648 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 202252648 202252648 G A SNP TRAK2 ENST00000332624 human ensembl 74_37 -1 known missense c.1474 p.R492C 1.000 pfam_Traffickng_kinesin-bd_prot_dom pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK2 HGNC ENSG00000115993 tier1 - - 252 0 0.00 290 16 5.19 TRIM36 0 genome.wustl.edu 37 5 114469682 114469682 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 114469682 114469682 C A SNP TRIM36 ENST00000282369 human ensembl 74_37 -1 known missense c.1409 p.G470V 0.945 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM36 HGNC ENSG00000152503 tier1 - - 123 0 0.00 90 6 6.25 TRPS1 0 genome.wustl.edu 37 8 116617063 116617063 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 116617063 116617063 G A SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.1133 p.S378F 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 tier1 - - 126 0 0.00 166 21 11.23 TSGA10 0 genome.wustl.edu 37 2 99636878 99636878 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 99636878 99636878 C T SNP TSGA10 ENST00000355053 human ensembl 74_37 -1 known missense c.1682 p.R561K 1.000 NULL NULL - no_errors TSGA10 HGNC ENSG00000135951 tier1 - - 70 0 0.00 55 29 34.52 TSNAXIP1 0 genome.wustl.edu 37 16 67859699 67859699 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 67859699 67859699 T C SNP TSNAXIP1 ENST00000388833 human ensembl 74_37 +1 known missense c.782 p.F261S 1.000 NULL NULL - no_errors TSNAXIP1 HGNC ENSG00000102904 tier1 - - 192 0 0.00 142 9 5.96 TTN 0 genome.wustl.edu 37 2 179426506 179426506 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 179426506 179426506 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.76649 p.R25550H 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 rs72648220 - 82 0 0.00 82 11 11.83 TXLNG 0 genome.wustl.edu 37 X 16858053 16858053 + RNA SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 16858053 16858053 C G SNP TXLNG ENST00000485153 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors TXLNG HGNC ENSG00000086712 tier1 - - 58 0 0.00 56 18 24.32 USH2A 0 genome.wustl.edu 37 1 216172286 216172286 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 216172286 216172286 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.6600 p.F2200 0.994 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 89 0 0.00 66 36 35.29 USH2A 0 genome.wustl.edu 37 1 216424365 216424365 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 216424365 216424365 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.2047 p.L683I 0.998 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 59 0 0.00 69 27 28.12 USP32P1 0 genome.wustl.edu 37 17 16701685 16701685 + RNA SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 16701685 16701685 C A SNP USP32P1 ENST00000341745 human ensembl 74_37 +1 known rna NULL NULL 0.954 - - - no_errors USP32P1 HGNC ENSG00000188933 tier1 - - 151 0 0.00 98 7 6.67 USP6 0 genome.wustl.edu 37 17 5073849 5073849 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 5073849 5073849 G T SNP USP6 ENST00000250066 human ensembl 74_37 +1 known missense c.3593 p.R1198L 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67 - no_errors USP6 HGNC ENSG00000129204 tier1 - - 63 0 0.00 16 14 46.67 VDAC3 0 genome.wustl.edu 37 8 42259320 42259320 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 42259320 42259320 A C SNP VDAC3 ENST00000392935 human ensembl 74_37 +1 known missense c.341 p.K114T 1.000 pfam_Porin_Euk/Tom40 pfam_Porin_Euk/Tom40,prints_Porin_Euk - no_errors VDAC3 HGNC ENSG00000078668 tier1 - - 192 0 0.00 175 10 5.41 VEZF1 0 genome.wustl.edu 37 17 56051991 56051991 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 56051991 56051991 A T SNP VEZF1 ENST00000581208 human ensembl 74_37 -1 known missense c.1409 p.V470D 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors VEZF1 HGNC ENSG00000136451 tier1 - - 134 0 0.00 130 16 10.96 VPS39 0 genome.wustl.edu 37 15 42476814 42476814 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 42476814 42476814 C A SNP VPS39 ENST00000348544 human ensembl 74_37 -1 known missense c.652 p.V218L 1.000 pfam_Citron,smart_Citron pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron - no_errors VPS39 HGNC ENSG00000166887 tier1 - - 347 0 0.00 296 20 6.31 VPS8 0 genome.wustl.edu 37 3 184648266 184648266 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 184648266 184648266 C A SNP VPS8 ENST00000287546 human ensembl 74_37 +1 known silent c.2808 p.V936 1.000 superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 tier1 - - 94 0 0.00 93 14 13.08 WDR19 0 genome.wustl.edu 37 4 39269706 39269706 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 39269706 39269706 C A SNP WDR19 ENST00000399820 human ensembl 74_37 +1 known missense c.3353 p.S1118Y 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 tier1 - - 17 0 0.00 11 5 31.25 WIPF1 0 genome.wustl.edu 37 2 175432672 175432672 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 175432672 175432672 G T SNP WIPF1 ENST00000272746 human ensembl 74_37 -1 known missense c.1259 p.P420H 0.999 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF1 HGNC ENSG00000115935 tier1 - - 123 0 0.00 98 28 22.22 WT1-AS 0 genome.wustl.edu 37 11 32460689 32460689 + RNA SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 32460689 32460689 G A SNP WT1-AS ENST00000395900 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WT1-AS HGNC ENSG00000183242 tier1 - - 28 0 0.00 11 13 54.17 XAF1 0 genome.wustl.edu 37 17 6673993 6673993 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 6673993 6673993 A C SNP XAF1 ENST00000361842 human ensembl 74_37 +1 known missense c.539 p.K180T 0.004 NULL superfamily_TRAF-like,pfscan_Znf_TRAF - no_errors XAF1 HGNC ENSG00000132530 tier1 - - 148 0 0.00 110 9 7.56 XDH 0 genome.wustl.edu 37 2 31628782 31628782 + Silent SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 31628782 31628782 T G SNP XDH ENST00000379416 human ensembl 74_37 -1 known silent c.91 p.R31 1.000 pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 tier1 - - 133 0 0.00 68 67 49.63 XRN2 0 genome.wustl.edu 37 20 21312984 21312984 + Missense_Mutation SNP T T A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 21312984 21312984 T A SNP XRN2 ENST00000377191 human ensembl 74_37 +1 known missense c.764 p.F255Y 1.000 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 tier1 - - 88 0 0.00 70 49 41.18 YARS 0 genome.wustl.edu 37 1 33276671 33276671 + RNA SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 33276671 33276671 C A SNP YARS ENST00000472692 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors YARS HGNC ENSG00000134684 tier1 - - 423 0 0.00 392 43 9.89 ZBTB33 0 genome.wustl.edu 37 X 119387538 119387538 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 119387538 119387538 A C SNP ZBTB33 ENST00000326624 human ensembl 74_37 +1 known missense c.268 p.I90L 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB33 HGNC ENSG00000177485 tier1 - - 95 0 0.00 71 9 11.25 ZBTB48 0 genome.wustl.edu 37 1 6646057 6646057 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 6646057 6646057 T G SNP ZBTB48 ENST00000377674 human ensembl 74_37 +1 known missense c.1011 p.H337Q 0.478 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB48 HGNC ENSG00000204859 tier1 - - 164 0 0.00 144 22 13.25 ZC3H7B 0 genome.wustl.edu 37 22 41726037 41726037 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 22 41726037 41726037 T G SNP ZC3H7B ENST00000351589 human ensembl 74_37 +1 known missense c.455 p.V152G 0.997 NULL pfam_Znf_CCCH,pfam_TPR_1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 tier1 - - 108 0 0.00 58 39 40.21 ZFR2 0 genome.wustl.edu 37 19 3811318 3811318 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 3811318 3811318 C A SNP ZFR2 ENST00000262961 human ensembl 74_37 -1 known missense c.2289 p.K763N 0.160 pfam_DZF,smart_DZF pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 tier1 - - 16 0 0.00 10 13 56.52 ZKSCAN4 0 genome.wustl.edu 37 6 28219399 28219399 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 28219399 28219399 G A SNP ZKSCAN4 ENST00000377294 human ensembl 74_37 -1 known silent c.360 p.S120 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN4 HGNC ENSG00000187626 tier1 - - 82 0 0.00 40 37 48.05 ZKSCAN7 0 genome.wustl.edu 37 3 44612512 44612512 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 44612512 44612512 G A SNP ZKSCAN7 ENST00000273320 human ensembl 74_37 +1 known missense c.1910 p.C637Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,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_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN7 HGNC ENSG00000196345 tier1 - - 132 0 0.00 90 6 6.25 ZNF175 0 genome.wustl.edu 37 19 52091293 52091293 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 52091293 52091293 C A SNP ZNF175 ENST00000262259 human ensembl 74_37 +1 known missense c.1709 p.S570Y 0.001 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 ZNF175 HGNC ENSG00000105497 tier1 - - 121 0 0.00 144 13 8.28 ZNF181 0 genome.wustl.edu 37 19 35232140 35232140 + Missense_Mutation SNP T T A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 35232140 35232140 T A SNP ZNF181 ENST00000392232 human ensembl 74_37 +1 known missense c.986 p.I329K 0.991 pfam_Znf_C2H2,smart_Znf_BED_prd,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,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF181 HGNC ENSG00000197841 tier1 - - 172 0 0.00 108 51 31.87 ZNF223 0 genome.wustl.edu 37 19 44570956 44570956 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 44570956 44570956 C A SNP ZNF223 ENST00000591793 human ensembl 74_37 +1 known missense c.1305 p.F435L 0.487 pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF223 Uniprot_gn ENSG00000267022 tier1 - - 227 0 0.00 194 11 5.37 ZNF233 0 genome.wustl.edu 37 19 44777763 44777763 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 44777763 44777763 G A SNP ZNF233 ENST00000391958 human ensembl 74_37 +1 known missense c.950 p.G317D 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF233 HGNC ENSG00000159915 tier1 - - 76 0 0.00 49 21 30.00 ZNF330 0 genome.wustl.edu 37 4 142151341 142151341 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 142151341 142151341 C T SNP ZNF330 ENST00000262990 human ensembl 74_37 +1 known missense c.440 p.S147F 1.000 pfam_NOA36 pfam_NOA36 - no_errors ZNF330 HGNC ENSG00000109445 tier1 - - 197 0 0.00 161 15 8.52 ZNF331 0 genome.wustl.edu 37 19 54080198 54080198 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 54080198 54080198 G T SNP ZNF331 ENST00000253144 human ensembl 74_37 +1 known missense c.384 p.E128D 1.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF331 HGNC ENSG00000130844 tier1 - - 145 0 0.00 178 18 9.18 ZNF385D 0 genome.wustl.edu 37 3 21706425 21706425 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 21706425 21706425 G C SNP ZNF385D ENST00000281523 human ensembl 74_37 -1 known missense c.118 p.P40A 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 tier1 - - 102 0 0.00 98 6 5.77 ZNF432 0 genome.wustl.edu 37 19 52537838 52537838 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 52537838 52537838 C T SNP ZNF432 ENST00000221315 human ensembl 74_37 -1 known missense c.1094 p.R365Q 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 ZNF432 HGNC ENSG00000256087 tier1 - - 227 0 0.00 203 23 10.18 ZNF462 0 genome.wustl.edu 37 9 109688310 109688310 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 109688310 109688310 A T SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.2117 p.K706I 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 tier1 - - 238 0 0.00 205 15 6.82 ZNF491 0 genome.wustl.edu 37 19 11917522 11917522 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 11917522 11917522 T C SNP ZNF491 ENST00000323169 human ensembl 74_37 +1 known silent c.754 p.L252 0.992 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF491 HGNC ENSG00000177599 tier1 - - 107 0 0.00 107 6 5.31 ZNF568 0 genome.wustl.edu 37 19 37441105 37441105 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 37441105 37441105 T C SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known silent c.1050 p.I350 0.000 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 ZNF568 HGNC ENSG00000198453 tier1 - - 146 0 0.00 108 49 31.01 ZNF578 0 genome.wustl.edu 37 19 53014933 53014933 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 53014933 53014933 T C SNP ZNF578 ENST00000421239 human ensembl 74_37 +1 known silent c.1299 p.G433 0.009 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 ZNF578 HGNC ENSG00000258405 tier1 - - 152 0 0.00 111 48 30.19 ZNF578 0 genome.wustl.edu 37 19 53015194 53015194 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 53015194 53015194 T G SNP ZNF578 ENST00000421239 human ensembl 74_37 +1 known missense c.1560 p.F520L 0.001 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 ZNF578 HGNC ENSG00000258405 tier1 - - 118 0 0.00 141 31 18.02 ZNF597 0 genome.wustl.edu 37 16 3487103 3487103 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 3487103 3487103 A G SNP ZNF597 ENST00000301744 human ensembl 74_37 -1 known missense c.596 p.L199P 0.194 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 - no_errors ZNF597 HGNC ENSG00000167981 tier1 - - 338 0 0.00 152 144 48.65 ZNF630 0 genome.wustl.edu 37 X 47919290 47919290 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 47919290 47919290 A G SNP ZNF630 ENST00000409324 human ensembl 74_37 -1 known missense c.541 p.C181R 0.988 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 ZNF630 HGNC ENSG00000221994 tier1 - - 29 0 0.00 30 10 25.00 ZNF699 0 genome.wustl.edu 37 19 9413055 9413055 + Silent SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 9413055 9413055 T G SNP ZNF699 ENST00000308650 human ensembl 74_37 -1 known silent c.174 p.L58 0.943 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF699 HGNC ENSG00000196110 tier1 - - 145 0 0.00 158 19 10.73 ZNF710 0 genome.wustl.edu 37 15 90611248 90611248 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 90611248 90611248 G A SNP ZNF710 ENST00000268154 human ensembl 74_37 +1 known silent c.879 p.K293 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 tier1 - - 152 0 0.00 91 27 22.88 ZNF710 0 genome.wustl.edu 37 15 90623031 90623031 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 90623031 90623031 G A SNP ZNF710 ENST00000268154 human ensembl 74_37 +1 known missense c.1965 p.M655I 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 tier1 - - 96 0 0.00 90 12 11.76 ZNF749 0 genome.wustl.edu 37 19 57954666 57954666 + Nonsense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 57954666 57954666 G A SNP ZNF749 ENST00000334181 human ensembl 74_37 +1 known nonsense c.150 p.W50* 0.071 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF749 HGNC ENSG00000186230 tier1 - - 52 0 0.00 33 22 40.00 ZNF75D 0 genome.wustl.edu 37 X 134425372 134425373 + RNA INS - - A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 134425372 134425373 - A INS ZNF75D ENST00000469456 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ZNF75D HGNC ENSG00000186376 tier1 38 0 0.00 19 25 56.82 ZNF772 0 genome.wustl.edu 37 19 57985304 57985304 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 57985304 57985304 C G SNP ZNF772 ENST00000343280 human ensembl 74_37 -1 known missense c.808 p.E270Q 0.906 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 ZNF772 HGNC ENSG00000197128 tier1 - - 141 0 0.00 168 9 5.08 ZNF808 0 genome.wustl.edu 37 19 53058569 53058569 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 53058569 53058569 C A SNP ZNF808 ENST00000359798 human ensembl 74_37 +1 known missense c.2400 p.F800L 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF808 HGNC ENSG00000198482 tier1 - - 319 0 0.00 327 21 6.02 ZNF99 0 genome.wustl.edu 37 19 22951199 22951199 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 22951199 22951199 A G SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.197 p.I66T 0.005 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ENSG00000213973 60 0 0.00 38 5 11.63 ZSCAN21 0 genome.wustl.edu 37 7 99661834 99661834 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 99661834 99661834 A G SNP ZSCAN21 ENST00000292450 human ensembl 74_37 +1 known missense c.1016 p.K339R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZSCAN21 HGNC ENSG00000166529 tier1 - - 113 0 0.00 96 39 28.89 SLC25A24 0 genome.wustl.edu 37 1 108703824 108703824 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 108703824 108703824 G A SNP SLC25A24 ENST00000565488 human ensembl 74_37 -1 known missense c.490 p.R164C 0.742 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A24 HGNC ENSG00000085491 92 0 0 75 14 15.7303 KCNA10 0 genome.wustl.edu 37 1 111060293 111060293 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 111060293 111060293 G A SNP KCNA10 ENST00000369771 human ensembl 74_37 -1 known missense c.1117 p.R373W 0.991 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA10 HGNC ENSG00000143105 151 0 0 67 44 39.6396 CTTNBP2NL 0 genome.wustl.edu 37 1 112999498 112999498 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 112999498 112999498 G A SNP CTTNBP2NL ENST00000271277 human ensembl 74_37 +1 known missense c.1384 p.A462T 1.000 NULL pfam_Cortactin-binding_p2_N - no_errors CTTNBP2NL HGNC ENSG00000143079 202 0 0 147 18 10.9091 AMPD1 0 genome.wustl.edu 37 1 115218568 115218568 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 115218568 115218568 A T SNP AMPD1 ENST00000520113 human ensembl 74_37 -1 known missense c.1544 p.I515N 1.000 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 170 0 0 109 15 12.0968 ENSG00000234978 0 genome.wustl.edu 37 1 142803421 142803421 + RNA SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 142803421 142803421 T C SNP ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 22 0 0 22 3 12 SEC22B 0 genome.wustl.edu 37 1 145116781 145116781 + RNA SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 145116781 145116781 C T SNP SEC22B ENST00000453618 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SEC22B HGNC ENSG00000223380 10 0 0 3 4 57.1429 ANXA9 0 genome.wustl.edu 37 1 150957153 150957153 + Splice_Site SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 150957153 150957153 G C SNP ANXA9 ENST00000368947 human ensembl 74_37 +1 known splice_site c.472+1 e5+1 0.756 - - - no_errors ANXA9 HGNC ENSG00000143412 46 0 0 61 9 12.8571 PGLYRP3 0 genome.wustl.edu 37 1 153279729 153279729 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 153279729 153279729 C T SNP PGLYRP3 ENST00000290722 human ensembl 74_37 -1 known missense c.70 p.V24I 0.001 superfamily_Amidase_domain,smart_PGRP_domain_met/bac pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP3 HGNC ENSG00000159527 14 0 0 21 9 30 ATP8B2 0 genome.wustl.edu 37 1 154317472 154317472 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 154317472 154317472 A G SNP ATP8B2 ENST00000368489 human ensembl 74_37 +1 known missense c.2411 p.E804G 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B2 HGNC ENSG00000143515 140 0 0 155 28 15.3005 SCAMP3 0 genome.wustl.edu 37 1 155231524 155231524 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 155231524 155231524 T C SNP SCAMP3 ENST00000302631 human ensembl 74_37 -1 known missense c.68 p.D23G 1.000 NULL pfam_SCAMP - no_errors SCAMP3 HGNC ENSG00000116521 118 0 0 118 16 11.9403 PKLR 0 genome.wustl.edu 37 1 155264506 155264506 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 155264506 155264506 G A SNP PKLR ENST00000342741 human ensembl 74_37 -1 known silent c.732 p.G244 0.018 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase-like_insert_dom,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 49 0 0 59 5 7.8125 SYT11 0 genome.wustl.edu 37 1 155850290 155850290 + Splice_Site SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 155850290 155850290 G T SNP SYT11 ENST00000368324 human ensembl 74_37 +1 known splice_site c.862-1 e3-1 1.000 - - - no_errors SYT11 HGNC ENSG00000132718 49 0 0 64 7 9.85915 IQGAP3 0 genome.wustl.edu 37 1 156535837 156535837 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 156535837 156535837 G A SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known silent c.342 p.A114 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 191 0 0 194 25 11.4155 KIRREL 0 genome.wustl.edu 37 1 158045957 158045957 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 158045957 158045957 A T SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known missense c.107 p.Q36L 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_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 101 0 0 127 11 7.97101 OR6K6 0 genome.wustl.edu 37 1 158725382 158725382 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 158725382 158725382 A G SNP OR6K6 ENST00000368144 human ensembl 74_37 +1 known silent c.777 p.E259 0.014 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K6 HGNC ENSG00000180433 162 0 0 175 13 6.91489 AIM2 0 genome.wustl.edu 37 1 159036059 159036059 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 159036059 159036059 A G SNP AIM2 ENST00000368130 human ensembl 74_37 -1 known missense c.457 p.C153R 0.000 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_NA-bd_OB-fold,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors AIM2 HGNC ENSG00000163568 148 0 0 139 18 11.465 ATP1A4 0 genome.wustl.edu 37 1 160147329 160147329 + Nonsense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 160147329 160147329 G T SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known nonsense c.2611 p.G871* 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 122 0 0 131 14 9.65517 F11R 0 genome.wustl.edu 37 1 160969679 160969679 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 160969679 160969679 C T SNP F11R ENST00000368026 human ensembl 74_37 -1 known silent c.681 p.V227 0.022 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors F11R HGNC ENSG00000158769 105 0 0 83 28 25.2252 BLZF1 0 genome.wustl.edu 37 1 169346076 169346076 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 169346076 169346076 C A SNP BLZF1 ENST00000329281 human ensembl 74_37 +1 known missense c.327 p.F109L 0.000 NULL pfam_Hsk3_like - no_errors BLZF1 HGNC ENSG00000117475 101 0 0 95 16 14.4144 FMO4 0 genome.wustl.edu 37 1 171289014 171289014 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 171289014 171289014 C G SNP FMO4 ENST00000367749 human ensembl 74_37 +1 known missense c.50 p.S17C 1.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3 - no_errors FMO4 HGNC ENSG00000076258 165 0 0 184 39 17.4888 BRINP3 0 genome.wustl.edu 37 1 190195247 190195247 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 190195247 190195247 G T SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.926 p.T309N 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 103 0 0 54 8 12.9032 UBR4 0 genome.wustl.edu 37 1 19408108 19408108 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 19408108 19408108 A T SNP UBR4 ENST00000375225 human ensembl 74_37 -1 known missense c.193 p.F65I 0.000 NULL NULL - no_errors UBR4 HGNC ENSG00000127481 115 0 0 101 10 9.00901 UBR4 0 genome.wustl.edu 37 1 19525086 19525086 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 19525086 19525086 T C SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known silent c.597 p.S199 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 105 0 0 102 6 5.55556 KCNT2 0 genome.wustl.edu 37 1 196303167 196303167 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 196303167 196303167 C T SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.1807 p.D603N 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 60 0 0 38 9 19.1489 CFHR2 0 genome.wustl.edu 37 1 196928034 196928034 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 196928034 196928034 A G SNP CFHR2 ENST00000367415 human ensembl 74_37 +1 known missense c.637 p.I213V 0.000 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR2 HGNC ENSG00000080910 57 0 0 26 15 36.5854 CACNA1S 0 genome.wustl.edu 37 1 201054639 201054639 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 201054639 201054639 G A SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known silent c.1075 p.L359 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 174 0 0 103 20 16.2602 ATP2B4 0 genome.wustl.edu 37 1 203691676 203691676 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 203691676 203691676 C A SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known silent c.2883 p.T961 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B4 HGNC ENSG00000058668 119 1 0.833333 101 18 15.1261 CR1 0 genome.wustl.edu 37 1 207751308 207751308 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 207751308 207751308 A G SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.4696 p.T1566A 0.929 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 213 1 0.46729 128 23 15.2318 HSD11B1 0 genome.wustl.edu 37 1 209905824 209905824 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 209905824 209905824 G T SNP HSD11B1 ENST00000261465 human ensembl 74_37 +1 known missense c.561 p.K187N 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD11B1 HGNC ENSG00000117594 160 0 0 113 20 15.0376 SERTAD4 0 genome.wustl.edu 37 1 210415406 210415406 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 210415406 210415406 C A SNP SERTAD4 ENST00000367012 human ensembl 74_37 +1 known silent c.795 p.I265 0.995 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD4 HGNC ENSG00000082497 82 0 0 24 19 44.186 EIF4G3 0 genome.wustl.edu 37 1 21268098 21268098 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 21268098 21268098 A G SNP EIF4G3 ENST00000374937 human ensembl 74_37 -1 known missense c.1399 p.C467R 0.997 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 282 0 0 274 27 8.9701 EIF4G3 0 genome.wustl.edu 37 1 21306912 21306912 + Silent SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 21306912 21306912 C G SNP EIF4G3 ENST00000374937 human ensembl 74_37 -1 known silent c.261 p.G87 0.991 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 42 0 0 45 3 6.25 USH2A 0 genome.wustl.edu 37 1 216172286 216172286 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 216172286 216172286 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.6600 p.F2200 0.994 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 86 0 0 61 36 37.1134 USH2A 0 genome.wustl.edu 37 1 216424365 216424365 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 216424365 216424365 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.2047 p.L683I 0.998 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 57 0 0 61 25 29.0698 RAP1GAP 0 genome.wustl.edu 37 1 21938267 21938267 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 21938267 21938267 C T SNP RAP1GAP ENST00000290101 human ensembl 74_37 -1 known missense c.847 p.A283T 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom - no_errors RAP1GAP HGNC ENSG00000076864 149 0 0 153 14 8.38323 EPRS 0 genome.wustl.edu 37 1 220142257 220142257 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 220142257 220142257 T G SNP EPRS ENST00000366923 human ensembl 74_37 -1 known missense c.4430 p.K1477T 1.000 pfam_Pro-tRNA_ligase_II_C,superfamily_Pro-tRNA_synth_II,smart_Pro-tRNA_ligase_II_C,tigrfam_Pro-tRNA-ligase_IIa_arc-type pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 114 0 0 61 38 38.3838 DISP1 0 genome.wustl.edu 37 1 223178510 223178510 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 223178510 223178510 A G SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel silent c.3771 p.E1257 0.142 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 222 0 0 303 17 5.3125 PRSS38 0 genome.wustl.edu 37 1 228004950 228004950 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 228004950 228004950 G C SNP PRSS38 ENST00000366757 human ensembl 74_37 +1 known missense c.352 p.V118L 0.001 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS38 HGNC ENSG00000185888 100 0 0 107 21 16.4062 OBSCN 0 genome.wustl.edu 37 1 228433248 228433248 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 228433248 228433248 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3616 p.L1206V 0.992 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 113 0 0 126 11 8.0292 LYST 0 genome.wustl.edu 37 1 235916434 235916434 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 235916434 235916434 G T SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.7370 p.S2457Y 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 101 0 0 123 17 12.1429 HEATR1 0 genome.wustl.edu 37 1 236732406 236732406 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 236732406 236732406 T C SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.3967 p.I1323V 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 62 0 0 75 9 10.7143 C1orf213 0 genome.wustl.edu 37 1 23695955 23695955 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 23695955 23695955 T C SNP C1orf213 ENST00000335648 human ensembl 74_37 +1 known silent c.165 p.V55 0.009 NULL NULL - no_errors C1orf213 HGNC ENSG00000249087 90 0 0 55 52 48.5981 MTR 0 genome.wustl.edu 37 1 237001741 237001741 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 237001741 237001741 T G SNP MTR ENST00000366577 human ensembl 74_37 +1 known missense c.1357 p.F453V 1.000 pfam_Pterin-binding,superfamily_Dihydropteroate_synth-like,pirsf_MetH,pfscan_Pterin-binding,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 155 0 0 123 35 22.1519 CHML 0 genome.wustl.edu 37 1 241798634 241798634 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 241798634 241798634 T C SNP CHML ENST00000366553 human ensembl 74_37 -1 known silent c.435 p.L145 0.000 pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHML HGNC ENSG00000203668 301 0 0 331 48 12.6649 AKT3 0 genome.wustl.edu 37 1 243809287 243809287 + Nonsense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 243809287 243809287 C A SNP AKT3 ENST00000263826 human ensembl 74_37 -1 known nonsense c.337 p.E113* 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT3 HGNC ENSG00000117020 69 0 0 105 7 6.25 TMEM57 0 genome.wustl.edu 37 1 25783150 25783150 + Silent SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 25783150 25783150 G T SNP TMEM57 ENST00000374343 human ensembl 74_37 +1 known silent c.480 p.G160 0.978 pfam_Macoilin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC ENSG00000204178 83 0 0 60 5 7.69231 SCMH1 0 genome.wustl.edu 37 1 41512187 41512187 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 41512187 41512187 A C SNP SCMH1 ENST00000326197 human ensembl 74_37 -1 known missense c.1360 p.C454G 1.000 pfam_DUF3588 pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors SCMH1 HGNC ENSG00000010803 105 0 0 106 18 14.5161 C1orf168 0 genome.wustl.edu 37 1 57192191 57192191 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 57192191 57192191 T C SNP C1orf168 ENST00000343433 human ensembl 74_37 -1 known missense c.1859 p.N620S 0.013 NULL superfamily_SH3_domain - no_errors C1orf168 HGNC ENSG00000187889 126 0 0 95 10 9.52381 ZBTB48 0 genome.wustl.edu 37 1 6646057 6646057 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 6646057 6646057 T G SNP ZBTB48 ENST00000377674 human ensembl 74_37 +1 known missense c.1011 p.H337Q 0.478 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB48 HGNC ENSG00000204859 149 0 0 129 21 14 ACADM 0 genome.wustl.edu 37 1 76226965 76226965 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 76226965 76226965 A C SNP ACADM ENST00000420607 human ensembl 74_37 +1 known missense c.1116 p.L372F 0.915 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADM HGNC ENSG00000117054 143 0 0 119 14 10.5263 ERRFI1 0 genome.wustl.edu 37 1 8074268 8074268 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 8074268 8074268 T C SNP ERRFI1 ENST00000377482 human ensembl 74_37 -1 known missense c.391 p.T131A 0.902 NULL pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6 - no_errors ERRFI1 HGNC ENSG00000116285 164 1 0.606061 95 88 48.0874 DDAH1 0 genome.wustl.edu 37 1 85816110 85816110 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 85816110 85816110 C T SNP DDAH1 ENST00000284031 human ensembl 74_37 -1 known silent c.585 p.Q195 1.000 pfam_Amidino_trans pfam_Amidino_trans - no_errors DDAH1 HGNC ENSG00000153904 217 0 0 205 24 10.4803 DDAH1 0 genome.wustl.edu 37 1 85817200 85817200 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 85817200 85817200 C A SNP DDAH1 ENST00000284031 human ensembl 74_37 -1 known missense c.466 p.D156Y 1.000 pfam_Amidino_trans pfam_Amidino_trans - no_errors DDAH1 HGNC ENSG00000153904 66 0 0 62 8 11.4286 SLC2A5 0 genome.wustl.edu 37 1 9097748 9097748 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 9097748 9097748 A C SNP SLC2A5 ENST00000377424 human ensembl 74_37 -1 known missense c.1403 p.F468C 0.990 pfam_Sub_transporter,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Fru_transpt_5,tigrfam_Sugar/inositol_transpt - no_errors SLC2A5 HGNC ENSG00000142583 229 0 0 176 46 20.7207 TMED5 0 genome.wustl.edu 37 1 93620428 93620428 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 93620428 93620428 G C SNP TMED5 ENST00000370282 human ensembl 74_37 -1 known missense c.489 p.I163M 1.000 pfam_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED5 HGNC ENSG00000117500 189 0 0 151 8 5.03145 HPSE2 0 genome.wustl.edu 37 10 100249941 100249941 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 10 100249941 100249941 A G SNP HPSE2 ENST00000370552 human ensembl 74_37 -1 known missense c.1333 p.S445P 1.000 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 127 0 0 79 49 38.2812 FAM178A 0 genome.wustl.edu 37 10 102684321 102684321 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 10 102684321 102684321 C T SNP FAM178A ENST00000370269 human ensembl 74_37 +1 known silent c.1563 p.H521 1.000 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 183 0 0 165 13 7.30337 SMC3 0 genome.wustl.edu 37 10 112338459 112338459 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 10 112338459 112338459 G A SNP SMC3 ENST00000361804 human ensembl 74_37 +1 known missense c.424 p.G142R 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 25 0 0 15 6 28.5714 TECTB 0 genome.wustl.edu 37 10 114061882 114061882 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 10 114061882 114061882 A C SNP TECTB ENST00000369422 human ensembl 74_37 +1 known missense c.931 p.S311R 0.777 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TECTB HGNC ENSG00000119913 167 0 0 163 23 12.3656 TCF7L2 0 genome.wustl.edu 37 10 114903766 114903766 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 10 114903766 114903766 T G SNP TCF7L2 ENST00000355995 human ensembl 74_37 +1 known missense c.770 p.L257R 1.000 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L2 HGNC ENSG00000148737 65 0 0 56 20 26.3158 ARMC3 0 genome.wustl.edu 37 10 23248490 23248490 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 10 23248490 23248490 A T SNP ARMC3 ENST00000298032 human ensembl 74_37 +1 known missense c.524 p.Y175F 1.000 pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 61 0 0 43 9 17.3077 MYO3A 0 genome.wustl.edu 37 10 26463103 26463103 + Nonsense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 10 26463103 26463103 G T SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known nonsense c.3910 p.E1304* 0.283 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 151 0 0 130 8 5.7971 LYZL2 0 genome.wustl.edu 37 10 30915759 30915759 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 10 30915759 30915759 T G SNP LYZL2 ENST00000375318 human ensembl 74_37 -1 known missense c.224 p.K75T 0.998 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL2 HGNC ENSG00000151033 121 1 0.819672 73 38 34.2342 BMPR1A 0 genome.wustl.edu 37 10 88683195 88683195 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 10 88683195 88683195 G C SNP BMPR1A ENST00000372037 human ensembl 74_37 +1 known missense c.1405 p.D469H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR1A HGNC ENSG00000107779 110 0 0 87 10 10.3093 PDE6C 0 genome.wustl.edu 37 10 95400246 95400246 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 10 95400246 95400246 C A SNP PDE6C ENST00000371447 human ensembl 74_37 +1 known silent c.1669 p.R557 1.000 prints_PDEase pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6C HGNC ENSG00000095464 204 0 0 152 19 11.1111 C10orf62 0 genome.wustl.edu 37 10 99350029 99350029 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 10 99350029 99350029 C T SNP C10orf62 ENST00000370640 human ensembl 74_37 +1 known silent c.375 p.A125 0.003 NULL NULL - no_errors C10orf62 HGNC ENSG00000203942 114 0 0 57 37 39.3617 TMEM133 0 genome.wustl.edu 37 11 100863338 100863338 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 100863338 100863338 C G SNP TMEM133 ENST00000303130 human ensembl 74_37 +1 known missense c.299 p.T100S 0.000 NULL NULL - no_errors TMEM133 HGNC ENSG00000170647 207 0 0 115 54 31.9527 MMP3 0 genome.wustl.edu 37 11 102712895 102712895 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 102712895 102712895 C A SNP MMP3 ENST00000299855 human ensembl 74_37 -1 known missense c.615 p.K205N 0.001 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP3 HGNC ENSG00000149968 79 0 0 68 5 6.84932 DSCAML1 0 genome.wustl.edu 37 11 117332239 117332239 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 117332239 117332239 C A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.3519 p.E1173D 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 117 0 0 122 16 11.5942 TMEM136 0 genome.wustl.edu 37 11 120201046 120201046 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 120201046 120201046 C G SNP TMEM136 ENST00000314475 human ensembl 74_37 +1 known missense c.626 p.P209R 1.000 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TMEM136 HGNC ENSG00000181264 24 0 0 21 5 19.2308 TECTA 0 genome.wustl.edu 37 11 121008198 121008198 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 121008198 121008198 A T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.3010 p.T1004S 1.000 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 108 0 0 82 31 27.4336 TECTA 0 genome.wustl.edu 37 11 121008393 121008393 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 121008393 121008393 A G SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.3205 p.R1069G 1.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 81 0 0 61 20 24.6914 TECTA 0 genome.wustl.edu 37 11 121023711 121023711 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 121023711 121023711 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known silent c.4227 p.D1409 0.966 pfam_TIL_dom,superfamily_TIL_dom,smart_EG-like_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 64 0 0 52 20 27.7778 CRTAM 0 genome.wustl.edu 37 11 122709288 122709288 + Missense_Mutation SNP T T A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 122709288 122709288 T A SNP CRTAM ENST00000227348 human ensembl 74_37 +1 known missense c.34 p.F12I 0.923 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CRTAM HGNC ENSG00000109943 78 0 0 77 15 16.3043 C11orf63 0 genome.wustl.edu 37 11 122805641 122805641 + Nonsense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 122805641 122805641 G T SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known nonsense c.1492 p.E498* 0.000 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 138 0 0 176 10 5.37634 OR8D1 0 genome.wustl.edu 37 11 124180354 124180354 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 124180354 124180354 G T SNP OR8D1 ENST00000357821 human ensembl 74_37 -1 known missense c.309 p.F103L 0.993 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D1 HGNC ENSG00000196341 68 0 0 38 18 32.1429 ESAM 0 genome.wustl.edu 37 11 124626486 124626486 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 124626486 124626486 T C SNP ESAM ENST00000278927 human ensembl 74_37 -1 known silent c.402 p.Q134 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ESAM HGNC ENSG00000149564 164 0 0 135 11 7.53425 MRGPRX3 0 genome.wustl.edu 37 11 18159630 18159630 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 18159630 18159630 C A SNP MRGPRX3 ENST00000396275 human ensembl 74_37 +1 known missense c.881 p.A294D 0.902 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX3 HGNC ENSG00000179826 118 0 0 101 7 6.48148 WT1-AS 0 genome.wustl.edu 37 11 32460689 32460689 + RNA SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 32460689 32460689 G A SNP WT1-AS ENST00000395900 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WT1-AS HGNC ENSG00000183242 25 0 0 9 11 55 OR51F2 0 genome.wustl.edu 37 11 4842733 4842733 + Missense_Mutation SNP T T A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 4842733 4842733 T A SNP OR51F2 ENST00000322110 human ensembl 74_37 +1 known missense c.118 p.W40R 0.973 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51F2 HGNC ENSG00000176925 369 0 0 190 71 27.2031 OR51A7 0 genome.wustl.edu 37 11 4928716 4928716 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 4928716 4928716 C A SNP OR51A7 ENST00000359350 human ensembl 74_37 +1 known silent c.117 p.I39 0.025 pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR51A7 HGNC ENSG00000176895 120 0 0 46 54 54 OR51A7 0 genome.wustl.edu 37 11 4929092 4929092 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 4929092 4929092 A G SNP OR51A7 ENST00000359350 human ensembl 74_37 +1 known missense c.493 p.R165G 0.086 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR51A7 HGNC ENSG00000176895 138 0 0 88 10 10.2041 APLNR 0 genome.wustl.edu 37 11 57003369 57003369 + Silent SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 57003369 57003369 G T SNP APLNR ENST00000257254 human ensembl 74_37 -1 known silent c.1110 p.I370 0.990 prints_APJ_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors APLNR HGNC ENSG00000134817 103 0 0 38 28 42.4242 MS4A13 0 genome.wustl.edu 37 11 60296890 60296890 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 60296890 60296890 T G SNP MS4A13 ENST00000378186 human ensembl 74_37 +1 known missense c.359 p.F120C 0.003 pfam_CD20-like pfam_CD20-like - no_errors MS4A13 HGNC ENSG00000204979 90 0 0 79 17 17.7083 AHNAK 0 genome.wustl.edu 37 11 62286317 62286317 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 62286317 62286317 G A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.15572 p.A5191V 0.939 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 72 0 0 67 13 16.25 SLC22A8 0 genome.wustl.edu 37 11 62760955 62760955 + Silent SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 62760955 62760955 G T SNP SLC22A8 ENST00000336232 human ensembl 74_37 -1 known silent c.1470 p.L490 0.995 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A8 HGNC ENSG00000149452 146 0 0 153 11 6.70732 MALAT1 0 genome.wustl.edu 37 11 65266460 65266460 + RNA SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 65266460 65266460 T C SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 179 0 0 207 16 7.17489 LRP5 0 genome.wustl.edu 37 11 68181312 68181312 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 68181312 68181312 G A SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.2659 p.D887N 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 95 0 0 75 41 35.3448 DHCR7 0 genome.wustl.edu 37 11 71153310 71153310 + Silent SNP T T A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 71153310 71153310 T A SNP DHCR7 ENST00000355527 human ensembl 74_37 -1 known silent c.411 p.A137 1.000 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24 - no_errors DHCR7 HGNC ENSG00000172893 24 0 0 18 11 37.931 TMEM126B 0 genome.wustl.edu 37 11 85347214 85347214 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 85347214 85347214 G C SNP TMEM126B ENST00000358867 human ensembl 74_37 +1 known missense c.634 p.G212R 0.322 pfam_DUF1370_TMEM126 pfam_DUF1370_TMEM126 - no_errors TMEM126B HGNC ENSG00000171204 62 0 0 65 5 7.14286 GRM5 0 genome.wustl.edu 37 11 88780527 88780527 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 88780527 88780527 A G SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.514 p.Y172H 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 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,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 90 0 0 87 5 5.43478 STAB2 0 genome.wustl.edu 37 12 104083643 104083643 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 104083643 104083643 C A SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.3065 p.T1022K 0.562 pfam_FAS1_domain,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,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 129 0 0 108 21 16.2791 ANKRD13A 0 genome.wustl.edu 37 12 110466443 110466443 + Nonsense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 110466443 110466443 C T SNP ANKRD13A ENST00000261739 human ensembl 74_37 +1 known nonsense c.1072 p.Q358* 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13A HGNC ENSG00000076513 113 0 0 60 45 42.8571 CUX2 0 genome.wustl.edu 37 12 111760282 111760282 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 111760282 111760282 A G SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known missense c.2824 p.S942G 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 25 0 0 21 4 16 PITPNM2 0 genome.wustl.edu 37 12 123489894 123489894 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 123489894 123489894 C A SNP PITPNM2 ENST00000320201 human ensembl 74_37 -1 known missense c.845 p.G282V 0.149 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 150 1 0.662252 52 52 50 DNAH10 0 genome.wustl.edu 37 12 124408960 124408960 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 124408960 124408960 A G SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.11393 p.N3798S 0.038 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 34 0 0 24 5 17.2414 KIAA1467 0 genome.wustl.edu 37 12 13229046 13229046 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 13229046 13229046 C A SNP KIAA1467 ENST00000197268 human ensembl 74_37 +1 known silent c.1611 p.A537 0.998 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors KIAA1467 HGNC ENSG00000084444 89 0 0 92 13 12.381 POLE 0 genome.wustl.edu 37 12 133202885 133202885 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 133202885 133202885 T C SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.6349 p.N2117D 0.995 NULL pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 89 0 0 53 15 22.0588 H2AFJ 0 genome.wustl.edu 37 12 14927543 14927543 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 14927543 14927543 G A SNP H2AFJ ENST00000389078 human ensembl 74_37 +1 known missense c.139 p.G47R 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors H2AFJ HGNC ENSG00000246705 141 0 0 110 15 12 PLCZ1 0 genome.wustl.edu 37 12 18847941 18847941 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 18847941 18847941 G A SNP PLCZ1 ENST00000266505 human ensembl 74_37 -1 known missense c.1364 p.S455F 1.000 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y 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_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCZ1 HGNC ENSG00000139151 89 0 0 81 8 8.98876 CACNA1C 0 genome.wustl.edu 37 12 2706652 2706652 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 2706652 2706652 T G SNP CACNA1C ENST00000347598 human ensembl 74_37 +1 known missense c.2903 p.I968S 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 ENSG00000151067 70 0 0 38 13 25.4902 IQSEC3 0 genome.wustl.edu 37 12 274675 274675 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 274675 274675 C G SNP IQSEC3 ENST00000326261 human ensembl 74_37 +1 known missense c.2785 p.Q929E 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC3 HGNC ENSG00000120645 163 0 0 130 18 12.1622 KLHL42 0 genome.wustl.edu 37 12 27950716 27950716 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 27950716 27950716 G A SNP KLHL42 ENST00000381271 human ensembl 74_37 +1 known missense c.1135 p.V379I 0.877 smart_Kelch_1 pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL42 HGNC ENSG00000087448 368 1 0.271003 345 48 12.2137 LRRK2 0 genome.wustl.edu 37 12 40757308 40757308 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 40757308 40757308 A G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.7133 p.K2378R 1.000 superfamily_WD40_repeat_dom 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 92 0 0 77 11 12.5 PDZRN4 0 genome.wustl.edu 37 12 41582776 41582776 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 41582776 41582776 G A SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known silent c.519 p.A173 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 8 0 0 1 5 83.3333 PDZRN4 0 genome.wustl.edu 37 12 41967584 41967584 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 41967584 41967584 G T SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known missense c.3003 p.K1001N 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 59 0 0 41 6 12.766 ARID2 0 genome.wustl.edu 37 12 46211647 46211647 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 46211647 46211647 G A SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known missense c.613 p.A205T 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 48 0 0 27 18 40 C12orf4 0 genome.wustl.edu 37 12 4627995 4627995 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 4627995 4627995 A C SNP C12orf4 ENST00000261250 human ensembl 74_37 -1 known missense c.780 p.I260M 0.983 pfam_DUF2362 pfam_DUF2362 - no_errors C12orf4 HGNC ENSG00000047621 42 0 0 38 4 9.52381 PCED1B 0 genome.wustl.edu 37 12 47628868 47628868 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 47628868 47628868 G A SNP PCED1B ENST00000432328 human ensembl 74_37 +1 known missense c.22 p.E8K 0.972 NULL NULL - no_errors PCED1B HGNC ENSG00000179715 81 0 0 40 39 49.3671 COL2A1 0 genome.wustl.edu 37 12 48370676 48370676 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 48370676 48370676 T C SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known silent c.3354 p.K1118 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 30 0 0 31 10 24.3902 KRT72 0 genome.wustl.edu 37 12 52981501 52981501 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 52981501 52981501 A G SNP KRT72 ENST00000293745 human ensembl 74_37 -1 known silent c.1224 p.R408 0.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC ENSG00000170486 212 0 0 189 11 5.5 CDK2 0 genome.wustl.edu 37 12 56364989 56364989 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 56364989 56364989 A C SNP CDK2 ENST00000266970 human ensembl 74_37 +1 known missense c.750 p.K250N 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK2 HGNC ENSG00000123374 297 0 0 165 129 43.8776 BEST3 0 genome.wustl.edu 37 12 70091512 70091512 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 70091512 70091512 T C SNP BEST3 ENST00000330891 human ensembl 74_37 -1 known missense c.67 p.K23E 1.000 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 174 0 0 149 16 9.69697 THAP2 0 genome.wustl.edu 37 12 72068117 72068117 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 72068117 72068117 G A SNP THAP2 ENST00000308086 human ensembl 74_37 +1 known missense c.206 p.R69Q 1.000 pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP2 HGNC ENSG00000173451 129 0 0 55 60 52.1739 CCER1 0 genome.wustl.edu 37 12 91347975 91347975 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 91347975 91347975 C G SNP CCER1 ENST00000358859 human ensembl 74_37 -1 known missense c.545 p.G182A 0.996 NULL NULL - no_errors CCER1 HGNC ENSG00000197651 144 0 0 129 12 8.51064 TMCC3 0 genome.wustl.edu 37 12 94975461 94975461 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 94975461 94975461 A C SNP TMCC3 ENST00000261226 human ensembl 74_37 -1 known missense c.932 p.L311R 0.972 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC3 HGNC ENSG00000057704 120 0 0 62 50 44.6429 C12orf55 0 genome.wustl.edu 37 12 97045487 97045487 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 97045487 97045487 C A SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.4994 p.P1665H 0.998 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 93 0 0 78 7 8.23529 NALCN 0 genome.wustl.edu 37 13 101797234 101797234 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 13 101797234 101797234 T C SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.1853 p.E618G 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 250 0 0 88 126 58.8785 LIG4 0 genome.wustl.edu 37 13 108861688 108861688 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 13 108861688 108861688 G A SNP LIG4 ENST00000356922 human ensembl 74_37 -1 known silent c.1929 p.H643 0.766 superfamily_BRCT_dom pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 107 0 0 42 69 62.1622 MYO16 0 genome.wustl.edu 37 13 109318489 109318489 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 13 109318489 109318489 A G SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.218 p.D73G 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 47 0 0 25 15 37.5 SACS 0 genome.wustl.edu 37 13 23910252 23910252 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 13 23910252 23910252 A C SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.7763 p.L2588R 1.000 superfamily_HATPase_ATP-bd pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 174 0 0 127 11 7.97101 BRCA2 0 genome.wustl.edu 37 13 32937423 32937423 + Nonsense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 13 32937423 32937423 C A SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known nonsense c.8084 p.S2695* 0.961 pfam_BRCA2_OB_1,superfamily_NA-bd_OB-fold,pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 123 0 0 62 63 50.4 DCLK1 0 genome.wustl.edu 37 13 36700142 36700142 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 13 36700142 36700142 G A SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.133 p.R45C 1.000 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 138 0 0 94 32 25.3968 ATP7B 0 genome.wustl.edu 37 13 52535989 52535989 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 13 52535989 52535989 T C SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known missense c.1930 p.K644E 1.000 NULL pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 99 0 0 86 17 16.5049 OLFM4 0 genome.wustl.edu 37 13 53616108 53616108 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 13 53616108 53616108 A G SNP OLFM4 ENST00000219022 human ensembl 74_37 +1 known missense c.421 p.I141V 0.000 NULL pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM4 HGNC ENSG00000102837 87 0 0 88 5 5.37634 SLITRK6 0 genome.wustl.edu 37 13 86370594 86370594 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 13 86370594 86370594 G T SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.50 p.S17Y 0.993 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 89 0 0 41 85 67.4603 SLC15A1 0 genome.wustl.edu 37 13 99376174 99376174 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 13 99376174 99376174 A G SNP SLC15A1 ENST00000376503 human ensembl 74_37 -1 known silent c.357 p.P119 0.000 pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A1 HGNC ENSG00000088386 65 0 0 93 10 9.70874 BRF1 0 genome.wustl.edu 37 14 105695217 105695217 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 105695217 105695217 C T SNP BRF1 ENST00000546474 human ensembl 74_37 -1 known missense c.728 p.R243K 1.000 pfam_TFIIB_cyclin,superfamily_Cyclin-like,smart_Cyclin-like pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC ENSG00000185024 513 0 0 430 38 8.11966 OR4N2 0 genome.wustl.edu 37 14 20295809 20295809 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 20295809 20295809 T G SNP OR4N2 ENST00000315947 human ensembl 74_37 +1 known missense c.202 p.F68V 0.997 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 OR4N2 HGNC ENSG00000176294 287 0 0 265 27 9.24658 SALL2 0 genome.wustl.edu 37 14 21992025 21992025 + Nonsense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 21992025 21992025 C A SNP SALL2 ENST00000327430 human ensembl 74_37 -1 known nonsense c.1837 p.G613* 0.995 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL2 HGNC ENSG00000165821 105 0 0 77 9 10.4651 C14orf119 0 genome.wustl.edu 37 14 23566984 23566984 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 23566984 23566984 G T SNP C14orf119 ENST00000319074 human ensembl 74_37 +1 known missense c.117 p.M39I 1.000 NULL NULL - no_errors C14orf119 HGNC ENSG00000179933 136 0 0 166 19 10.2703 HECTD1 0 genome.wustl.edu 37 14 31570519 31570519 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 31570519 31570519 A C SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known missense c.7562 p.L2521R 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 91 0 0 65 5 7.14286 AKAP6 0 genome.wustl.edu 37 14 33293355 33293355 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 33293355 33293355 C T SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known silent c.6336 p.Y2112 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 109 0 0 88 10 10.2041 SSTR1 0 genome.wustl.edu 37 14 38678730 38678730 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 38678730 38678730 T C SNP SSTR1 ENST00000267377 human ensembl 74_37 +1 known missense c.136 p.S46P 0.026 prints_Somatstn_rcpt_1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt - no_errors SSTR1 HGNC ENSG00000139874 58 0 0 22 21 48.8372 GNPNAT1 0 genome.wustl.edu 37 14 53251341 53251341 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 53251341 53251341 C G SNP GNPNAT1 ENST00000216410 human ensembl 74_37 -1 known missense c.28 p.D10H 1.000 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors GNPNAT1 HGNC ENSG00000100522 56 0 0 42 11 20.7547 NAA30 0 genome.wustl.edu 37 14 57858356 57858356 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 57858356 57858356 C A SNP NAA30 ENST00000556492 human ensembl 74_37 +1 known silent c.681 p.I227 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA30 HGNC ENSG00000139977 400 0 0 320 26 7.51445 KCNH5 0 genome.wustl.edu 37 14 63447896 63447896 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 63447896 63447896 A G SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known silent c.636 p.A212 1.000 prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 64 0 0 44 17 27.8689 SIPA1L1 0 genome.wustl.edu 37 14 72138037 72138037 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 72138037 72138037 G T SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.2457 p.K819N 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 93 0 0 61 5 7.57576 SYNE3 0 genome.wustl.edu 37 14 95905454 95905454 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 95905454 95905454 C T SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known silent c.2292 p.G764 0.449 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 390 0 0 225 80 26.2295 PAPOLA 0 genome.wustl.edu 37 14 96998949 96998949 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 14 96998949 96998949 A T SNP PAPOLA ENST00000216277 human ensembl 74_37 +1 known missense c.799 p.T267S 1.000 pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLA HGNC ENSG00000090060 110 0 0 106 9 7.82609 SNHG14 0 genome.wustl.edu 37 15 25444423 25444423 + RNA SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 25444423 25444423 G T SNP SNHG14 ENST00000424208 human ensembl 74_37 +1 known rna NULL NULL 0.049 - - - no_errors SNHG14 HGNC ENSG00000224078 45 0 0 14 6 30 SNORD115-42 0 genome.wustl.edu 37 15 25492563 25492563 + RNA SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 25492563 25492563 C T SNP SNORD115-42 ENST00000364273 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors SNORD115-42 HGNC ENSG00000201143 450 0 0 210 138 39.6552 HERC2 0 genome.wustl.edu 37 15 28510800 28510800 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 28510800 28510800 T G SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.1834 p.S612R 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens 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 142 0 0 137 11 7.43243 RYR3 0 genome.wustl.edu 37 15 33855184 33855184 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 33855184 33855184 T C SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.1119 p.T373 0.035 pfam_MIR_motif,superfamily_MIR_motif pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 144 0 0 81 38 31.9328 RPAP1 0 genome.wustl.edu 37 15 41822171 41822171 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 41822171 41822171 G T SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known missense c.950 p.A317E 0.021 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 46 0 0 37 7 15.9091 MGA 0 genome.wustl.edu 37 15 41961189 41961189 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 41961189 41961189 A T SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.97 p.N33Y 1.000 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 166 0 0 148 10 6.32911 VPS39 0 genome.wustl.edu 37 15 42476814 42476814 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 42476814 42476814 C A SNP VPS39 ENST00000348544 human ensembl 74_37 -1 known missense c.652 p.V218L 1.000 pfam_Citron,smart_Citron pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron - no_errors VPS39 HGNC ENSG00000166887 305 0 0 251 17 6.34328 SLC28A2 0 genome.wustl.edu 37 15 45562474 45562474 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 45562474 45562474 A G SNP SLC28A2 ENST00000347644 human ensembl 74_37 +1 known missense c.1648 p.T550A 1.000 pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A2 HGNC ENSG00000137860 123 1 0.806452 69 10 12.6582 SLC24A5 0 genome.wustl.edu 37 15 48434314 48434314 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 48434314 48434314 A G SNP SLC24A5 ENST00000341459 human ensembl 74_37 +1 known silent c.1269 p.A423 0.928 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A5 HGNC ENSG00000188467 156 0 0 115 12 9.44882 CEP152 0 genome.wustl.edu 37 15 49031095 49031095 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 49031095 49031095 G A SNP CEP152 ENST00000380950 human ensembl 74_37 -1 known missense c.4484 p.A1495V 0.000 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 125 0 0 87 5 5.43478 MYO5A 0 genome.wustl.edu 37 15 52702548 52702548 + Missense_Mutation SNP T T A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 52702548 52702548 T A SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known missense c.738 p.K246N 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 167 0 0 138 16 10.3896 CGNL1 0 genome.wustl.edu 37 15 57730861 57730861 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 57730861 57730861 G A SNP CGNL1 ENST00000281282 human ensembl 74_37 +1 known missense c.664 p.V222M 0.314 NULL pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 220 0 0 172 29 14.4279 FAM63B 0 genome.wustl.edu 37 15 59146716 59146716 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 59146716 59146716 A G SNP FAM63B ENST00000559228 human ensembl 74_37 +1 known silent c.1773 p.G591 1.000 NULL pfam_DUF544 - no_errors FAM63B HGNC ENSG00000128923 76 0 0 46 4 8 PKM 0 genome.wustl.edu 37 15 72502067 72502067 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 72502067 72502067 C T SNP PKM ENST00000319622 human ensembl 74_37 -1 known missense c.512 p.G171D 1.000 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase-like_insert_dom,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKM HGNC ENSG00000067225 229 0 0 175 37 17.4528 ISLR 0 genome.wustl.edu 37 15 74467458 74467458 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 74467458 74467458 C T SNP ISLR ENST00000249842 human ensembl 74_37 +1 known missense c.259 p.R87C 0.463 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ISLR HGNC ENSG00000129009 104 0 0 60 12 16.6667 C15orf27 0 genome.wustl.edu 37 15 76430143 76430143 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 76430143 76430143 T C SNP C15orf27 ENST00000388942 human ensembl 74_37 +1 known missense c.134 p.F45S 1.000 NULL NULL - no_errors C15orf27 HGNC ENSG00000169758 145 0 0 89 18 16.8224 TBC1D2B 0 genome.wustl.edu 37 15 78346473 78346473 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 78346473 78346473 C A SNP TBC1D2B ENST00000300584 human ensembl 74_37 -1 known missense c.417 p.W139C 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2B HGNC ENSG00000167202 102 0 0 96 14 12.7273 ZNF710 0 genome.wustl.edu 37 15 90611248 90611248 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 90611248 90611248 G A SNP ZNF710 ENST00000268154 human ensembl 74_37 +1 known silent c.879 p.K293 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 149 0 0 88 25 22.1239 ZNF710 0 genome.wustl.edu 37 15 90623031 90623031 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 90623031 90623031 G A SNP ZNF710 ENST00000268154 human ensembl 74_37 +1 known missense c.1965 p.M655I 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 89 0 0 82 10 10.8696 SLCO3A1 0 genome.wustl.edu 37 15 92706132 92706132 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 92706132 92706132 A G SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known missense c.1900 p.K634E 1.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 131 0 0 118 17 12.5926 SYNM 0 genome.wustl.edu 37 15 99670191 99670191 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 99670191 99670191 G T SNP SYNM ENST00000336292 human ensembl 74_37 +1 known missense c.1623 p.L541F 0.769 NULL pfam_IF - no_errors SYNM HGNC ENSG00000182253 35 0 0 25 6 19.3548 C1QTNF8 0 genome.wustl.edu 37 16 1143788 1143788 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 1143788 1143788 A G SNP C1QTNF8 ENST00000328449 human ensembl 74_37 -1 known missense c.472 p.C158R 0.500 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF8 HGNC ENSG00000184471 119 0 0 81 13 13.8298 PARN 0 genome.wustl.edu 37 16 14704658 14704658 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 14704658 14704658 A T SNP PARN ENST00000437198 human ensembl 74_37 -1 known missense c.397 p.Y133N 1.000 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,pfam_PolyA-riboNase_RNA_binding,pfam_R3H_ss-bd,superfamily_RNaseH-like_dom,pfscan_R3H_ss-bd - no_errors PARN HGNC ENSG00000140694 106 0 0 112 8 6.66667 ANKS4B 0 genome.wustl.edu 37 16 21245137 21245137 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 21245137 21245137 C A SNP ANKS4B ENST00000311620 human ensembl 74_37 +1 known missense c.79 p.L27I 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom 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 - no_errors ANKS4B HGNC ENSG00000175311 200 0 0 242 14 5.46875 SCNN1G 0 genome.wustl.edu 37 16 23224207 23224207 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 23224207 23224207 G A SNP SCNN1G ENST00000300061 human ensembl 74_37 +1 known missense c.1423 p.V475I 0.810 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 84 0 0 84 8 8.69565 RBBP6 0 genome.wustl.edu 37 16 24579119 24579119 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 24579119 24579119 G T SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.1959 p.K653N 1.000 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 92 0 0 71 27 27.551 TNRC6A 0 genome.wustl.edu 37 16 24816407 24816407 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 24816407 24816407 C G SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.4057 p.Q1353E 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 168 0 0 200 13 6.10329 SLC5A11 0 genome.wustl.edu 37 16 24881234 24881234 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 24881234 24881234 T C SNP SLC5A11 ENST00000347898 human ensembl 74_37 +1 known silent c.220 p.L74 0.998 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC ENSG00000158865 63 0 0 51 22 30.137 GTF3C1 0 genome.wustl.edu 37 16 27475995 27475995 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 27475995 27475995 A C SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.5518 p.S1840A 0.003 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 136 0 0 144 8 5.26316 STX1B 0 genome.wustl.edu 37 16 31012871 31012871 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 31012871 31012871 G T SNP STX1B ENST00000215095 human ensembl 74_37 -1 known missense c.84 p.F28L 0.995 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX1B HGNC ENSG00000099365 59 0 0 56 4 6.66667 PRSS36 0 genome.wustl.edu 37 16 31151686 31151686 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 31151686 31151686 G A SNP PRSS36 ENST00000268281 human ensembl 74_37 -1 known missense c.2218 p.L740F 1.000 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS36 HGNC ENSG00000178226 112 0 0 121 12 9.02256 ZNF597 0 genome.wustl.edu 37 16 3487103 3487103 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 3487103 3487103 A G SNP ZNF597 ENST00000301744 human ensembl 74_37 -1 known missense c.596 p.L199P 0.194 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 - no_errors ZNF597 HGNC ENSG00000167981 302 0 0 130 121 48.2072 DNAJA2 0 genome.wustl.edu 37 16 46998672 46998672 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 46998672 46998672 T G SNP DNAJA2 ENST00000317089 human ensembl 74_37 -1 known missense c.625 p.K209Q 1.000 pfam_HSP_DnaJ_Cys-rich_dom,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,pfscan_HSP_DnaJ_Cys-rich_dom pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA2 HGNC ENSG00000069345 158 0 0 171 9 5 ITFG1 0 genome.wustl.edu 37 16 47345175 47345175 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 47345175 47345175 A G SNP ITFG1 ENST00000320640 human ensembl 74_37 -1 known missense c.1046 p.V349A 1.000 NULL NULL - no_errors ITFG1 HGNC ENSG00000129636 55 0 0 37 27 42.1875 LPCAT2 0 genome.wustl.edu 37 16 55559524 55559524 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 55559524 55559524 T C SNP LPCAT2 ENST00000262134 human ensembl 74_37 +1 known silent c.276 p.P92 0.993 NULL pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 86 0 0 75 13 14.7727 CCL22 0 genome.wustl.edu 37 16 57394360 57394360 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 57394360 57394360 G A SNP CCL22 ENST00000219235 human ensembl 74_37 +1 known missense c.85 p.A29T 0.857 superfamily_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL22 HGNC ENSG00000102962 115 0 0 73 34 31.7757 C16orf80 0 genome.wustl.edu 37 16 58150024 58150024 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 58150024 58150024 T G SNP C16orf80 ENST00000262498 human ensembl 74_37 -1 known missense c.197 p.K66T 1.000 pfam_DUF667 pfam_DUF667 - no_errors C16orf80 HGNC ENSG00000070761 118 0 0 101 10 9.00901 CNOT1 0 genome.wustl.edu 37 16 58589379 58589379 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 58589379 58589379 G A SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known silent c.2667 p.N889 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 114 0 0 105 19 15.3226 TSNAXIP1 0 genome.wustl.edu 37 16 67859699 67859699 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 67859699 67859699 T C SNP TSNAXIP1 ENST00000388833 human ensembl 74_37 +1 known missense c.782 p.F261S 1.000 NULL NULL - no_errors TSNAXIP1 HGNC ENSG00000102904 173 0 0 125 9 6.71642 CDH3 0 genome.wustl.edu 37 16 68729158 68729158 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 68729158 68729158 T G SNP CDH3 ENST00000264012 human ensembl 74_37 +1 known missense c.2003 p.F668C 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH3 HGNC ENSG00000062038 63 0 0 55 12 17.9104 CHST6 0 genome.wustl.edu 37 16 75513136 75513136 + Silent SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 75513136 75513136 G T SNP CHST6 ENST00000332272 human ensembl 74_37 -1 known silent c.591 p.I197 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST6 HGNC ENSG00000183196 98 0 0 81 6 6.89655 CNTNAP4 0 genome.wustl.edu 37 16 76482826 76482826 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 76482826 76482826 A G SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.902 p.N301S 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 31 0 0 36 3 7.69231 C16orf46 0 genome.wustl.edu 37 16 81094820 81094820 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 81094820 81094820 C T SNP C16orf46 ENST00000299578 human ensembl 74_37 -1 known silent c.1134 p.P378 0.108 NULL NULL - no_errors C16orf46 HGNC ENSG00000166455 91 0 0 57 18 24 PLCG2 0 genome.wustl.edu 37 16 81965124 81965124 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 16 81965124 81965124 C A SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known missense c.2604 p.N868K 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl,smart_Pleckstrin_homology,pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 119 0 0 85 22 20.5607 MYH2 0 genome.wustl.edu 37 17 10428248 10428248 + Silent SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 10428248 10428248 G T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known silent c.4797 p.I1599 0.003 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 235 0 0 178 16 8.24742 ENSG00000205325 0 genome.wustl.edu 37 17 14683190 14683190 + RNA SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 14683190 14683190 T C SNP ENSG00000205325 ENST00000379640 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005863.1 Clone_based_vega_gene ENSG00000205325 151 0 0 58 59 50.4274 SEZ6 0 genome.wustl.edu 37 17 27284559 27284559 + Splice_Site SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 27284559 27284559 T G SNP SEZ6 ENST00000317338 human ensembl 74_37 -1 known splice_site c.2303-2 e12-2 0.858 - - - no_errors SEZ6 HGNC ENSG00000063015 31 0 0 14 13 48.1481 SPACA3 0 genome.wustl.edu 37 17 31324506 31324506 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 31324506 31324506 G A SNP SPACA3 ENST00000269053 human ensembl 74_37 +1 known missense c.546 p.M182I 1.000 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors SPACA3 HGNC ENSG00000141316 257 0 0 226 27 10.6719 GAS2L2 0 genome.wustl.edu 37 17 34072287 34072287 + Silent SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 34072287 34072287 G T SNP GAS2L2 ENST00000254466 human ensembl 74_37 -1 known silent c.2229 p.P743 0.015 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 225 0 0 271 16 5.57491 CDK12 0 genome.wustl.edu 37 17 37671991 37671991 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 37671991 37671991 C A SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known missense c.2776 p.L926I 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 CDK12 HGNC ENSG00000167258 92 0 0 111 6 5.12821 HAP1 0 genome.wustl.edu 37 17 39887967 39887967 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 39887967 39887967 G A SNP HAP1 ENST00000310778 human ensembl 74_37 -1 known missense c.925 p.H309Y 0.009 pfam_HAP1_N pfam_HAP1_N - no_errors HAP1 HGNC ENSG00000173805 72 0 0 67 17 20.2381 HSD17B1 0 genome.wustl.edu 37 17 40705550 40705550 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 40705550 40705550 T G SNP HSD17B1 ENST00000585807 human ensembl 74_37 +1 known missense c.359 p.V120G 0.918 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B1 HGNC ENSG00000108786 107 0 0 104 7 6.30631 RUNDC3A 0 genome.wustl.edu 37 17 42390557 42390557 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 42390557 42390557 A C SNP RUNDC3A ENST00000426726 human ensembl 74_37 +1 known missense c.309 p.K103N 1.000 pfam_Run,pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3A HGNC ENSG00000108309 102 0 0 85 9 9.57447 LRRC46 0 genome.wustl.edu 37 17 45913056 45913056 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 45913056 45913056 A G SNP LRRC46 ENST00000269025 human ensembl 74_37 +1 known silent c.297 p.Q99 0.551 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC46 HGNC ENSG00000141294 230 0 0 225 22 8.90688 USP6 0 genome.wustl.edu 37 17 5073849 5073849 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 5073849 5073849 G T SNP USP6 ENST00000250066 human ensembl 74_37 +1 known missense c.3593 p.R1198L 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67 - no_errors USP6 HGNC ENSG00000129204 60 0 0 13 14 51.8519 KIF2B 0 genome.wustl.edu 37 17 51900513 51900513 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 51900513 51900513 G A SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.119 p.R40Q 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 120 0 0 75 29 27.8846 VEZF1 0 genome.wustl.edu 37 17 56051991 56051991 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 56051991 56051991 A T SNP VEZF1 ENST00000581208 human ensembl 74_37 -1 known missense c.1409 p.V470D 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors VEZF1 HGNC ENSG00000136451 129 0 0 128 16 11.1111 SRSF1 0 genome.wustl.edu 37 17 56083143 56083143 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 56083143 56083143 G T SNP SRSF1 ENST00000581979 human ensembl 74_37 -1 known missense c.571 p.L191I 0.792 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF1 HGNC ENSG00000136450 68 0 0 83 5 5.68182 APPBP2 0 genome.wustl.edu 37 17 58529358 58529358 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 58529358 58529358 G T SNP APPBP2 ENST00000083182 human ensembl 74_37 -1 known missense c.1387 p.L463I 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors APPBP2 HGNC ENSG00000062725 93 0 0 80 38 32.2034 EFCAB3 0 genome.wustl.edu 37 17 60484454 60484454 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 60484454 60484454 G T SNP EFCAB3 ENST00000450662 human ensembl 74_37 +1 known missense c.904 p.D302Y 1.000 NULL pfscan_EF_hand_dom - no_errors EFCAB3 HGNC ENSG00000172421 126 0 0 150 8 5.06329 TEX2 0 genome.wustl.edu 37 17 62290742 62290742 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 62290742 62290742 T C SNP TEX2 ENST00000258991 human ensembl 74_37 -1 known missense c.836 p.K279R 1.000 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 100 0 0 105 7 6.25 XAF1 0 genome.wustl.edu 37 17 6673993 6673993 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 6673993 6673993 A C SNP XAF1 ENST00000361842 human ensembl 74_37 +1 known missense c.539 p.K180T 0.004 NULL superfamily_TRAF-like,pfscan_Znf_TRAF - no_errors XAF1 HGNC ENSG00000132530 129 0 0 91 9 9 TEKT1 0 genome.wustl.edu 37 17 6733513 6733513 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 6733513 6733513 C A SNP TEKT1 ENST00000338694 human ensembl 74_37 -1 known missense c.183 p.K61N 1.000 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT1 HGNC ENSG00000167858 88 0 0 41 40 49.3827 SDK2 0 genome.wustl.edu 37 17 71394234 71394234 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 71394234 71394234 C A SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known missense c.3294 p.M1098I 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 42 0 0 42 17 28.8136 ITGB4 0 genome.wustl.edu 37 17 73726350 73726350 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 73726350 73726350 C G SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known missense c.767 p.T256S 1.000 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 105 0 0 70 34 32.6923 QRICH2 0 genome.wustl.edu 37 17 74289746 74289746 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 74289746 74289746 T C SNP QRICH2 ENST00000262765 human ensembl 74_37 -1 known silent c.564 p.R188 0.026 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 108 0 0 121 14 10.3704 TP53 0 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 7577120 7577120 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.818 p.R273H 0.864 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 48 0 0 17 27 61.3636 DNAH17 0 genome.wustl.edu 37 17 76446423 76446423 + Nonsense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 76446423 76446423 G T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known nonsense c.10911 p.Y3637* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 52 0 0 41 8 16.3265 DNAH17 0 genome.wustl.edu 37 17 76521202 76521202 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 76521202 76521202 C T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known silent c.3741 p.A1247 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 42 0 0 27 18 40 FASN 0 genome.wustl.edu 37 17 80047252 80047252 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 17 80047252 80047252 C A SNP FASN ENST00000306749 human ensembl 74_37 -1 known silent c.1974 p.V658 0.051 pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_acyl_transferase pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 122 0 0 118 9 7.08661 MC5R 0 genome.wustl.edu 37 18 13825877 13825877 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 18 13825877 13825877 T C SNP MC5R ENST00000324750 human ensembl 74_37 +1 known missense c.113 p.I38T 0.997 prints_Melancort_rcpt_5,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC5R HGNC ENSG00000176136 97 0 0 75 7 8.53659 ACAA2 0 genome.wustl.edu 37 18 47317959 47317959 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 18 47317959 47317959 T C SNP ACAA2 ENST00000285093 human ensembl 74_37 -1 known missense c.764 p.D255G 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAA2 HGNC ENSG00000167315 129 0 0 82 9 9.89011 ZNF491 0 genome.wustl.edu 37 19 11917522 11917522 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 11917522 11917522 T C SNP ZNF491 ENST00000323169 human ensembl 74_37 +1 known silent c.754 p.L252 0.992 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF491 HGNC ENSG00000177599 103 0 0 95 6 5.94059 SUGP2 0 genome.wustl.edu 37 19 19136841 19136841 + Nonsense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 19136841 19136841 C A SNP SUGP2 ENST00000337018 human ensembl 74_37 -1 known nonsense c.316 p.E106* 0.993 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 160 0 0 69 88 56.051 ZNF99 0 genome.wustl.edu 37 19 22951199 22951199 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 22951199 22951199 A G SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.197 p.I66T 0.005 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ENSG00000213973 56 0 0 38 5 11.6279 GPI 0 genome.wustl.edu 37 19 34887294 34887294 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 34887294 34887294 G T SNP GPI ENST00000415930 human ensembl 74_37 +1 known missense c.1184 p.G395V 1.000 pfam_G6P_Isomerase pfam_G6P_Isomerase,prints_G6P_Isomerase - no_errors GPI HGNC ENSG00000105220 144 0 0 157 11 6.54762 ZNF181 0 genome.wustl.edu 37 19 35232140 35232140 + Missense_Mutation SNP T T A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 35232140 35232140 T A SNP ZNF181 ENST00000392232 human ensembl 74_37 +1 known missense c.986 p.I329K 0.991 pfam_Znf_C2H2,smart_Znf_BED_prd,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,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF181 HGNC ENSG00000197841 158 0 0 94 47 33.3333 SBSN 0 genome.wustl.edu 37 19 36018393 36018393 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 36018393 36018393 A G SNP SBSN ENST00000452271 human ensembl 74_37 -1 novel missense c.791 p.V264A 0.000 NULL NULL - no_errors SBSN HGNC ENSG00000189001 21 0 0 28 4 12.5 PIP5K1C 0 genome.wustl.edu 37 19 3656550 3656550 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 3656550 3656550 G A SNP PIP5K1C ENST00000537021 human ensembl 74_37 -1 known silent c.474 p.S158 0.892 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 113 0 0 71 10 12.3457 ZNF568 0 genome.wustl.edu 37 19 37441105 37441105 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 37441105 37441105 T C SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known silent c.1050 p.I350 0.000 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 ZNF568 HGNC ENSG00000198453 131 0 0 95 47 33.0986 ZFR2 0 genome.wustl.edu 37 19 3811318 3811318 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 3811318 3811318 C A SNP ZFR2 ENST00000262961 human ensembl 74_37 -1 known missense c.2289 p.K763N 0.160 pfam_DZF,smart_DZF pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 12 0 0 8 10 55.5556 CYP2A13 0 genome.wustl.edu 37 19 41596368 41596368 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 41596368 41596368 A G SNP CYP2A13 ENST00000330436 human ensembl 74_37 +1 known missense c.553 p.I185V 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 180 0 0 198 17 7.90698 GRIK5 0 genome.wustl.edu 37 19 42566669 42566669 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 42566669 42566669 G A SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known missense c.479 p.S160L 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 133 0 0 89 44 33.0827 ZNF283 0 genome.wustl.edu 37 19 44351314 44351314 + Silent SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 44351314 44351314 T G SNP ZNF283 ENST00000324461 human ensembl 74_37 +1 known silent c.561 p.S187 0.001 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 ZNF283 HGNC ENSG00000167637 44 0 0 32 10 23.8095 ZNF223 0 genome.wustl.edu 37 19 44570956 44570956 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 44570956 44570956 C A SNP ZNF223 ENST00000591793 human ensembl 74_37 +1 known missense c.1305 p.F435L 0.487 pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF223 Uniprot_gn ENSG00000267022 213 0 0 181 10 5.2356 ZNF233 0 genome.wustl.edu 37 19 44777763 44777763 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 44777763 44777763 G A SNP ZNF233 ENST00000391958 human ensembl 74_37 +1 known missense c.950 p.G317D 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF233 HGNC ENSG00000159915 72 0 0 44 20 31.25 KLK11 0 genome.wustl.edu 37 19 51528880 51528880 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 51528880 51528880 A C SNP KLK11 ENST00000594768 human ensembl 74_37 -1 known missense c.104 p.I35S 0.984 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors KLK11 HGNC ENSG00000167757 11 0 0 13 4 23.5294 CD33 0 genome.wustl.edu 37 19 51728802 51728802 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 51728802 51728802 A C SNP CD33 ENST00000262262 human ensembl 74_37 +1 known missense c.366 p.R122S 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD33 HGNC ENSG00000105383 117 0 0 106 19 15.2 NKG7 0 genome.wustl.edu 37 19 51875207 51875207 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 51875207 51875207 G T SNP NKG7 ENST00000595217 human ensembl 74_37 -1 novel missense c.407 p.S136Y 0.002 NULL NULL - no_errors NKG7 HGNC ENSG00000105374 206 1 0.483092 213 14 6.1674 SIGLEC6 0 genome.wustl.edu 37 19 52033998 52033998 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 52033998 52033998 A T SNP SIGLEC6 ENST00000425629 human ensembl 74_37 -1 known missense c.643 p.C215S 0.993 pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC6 HGNC ENSG00000105492 156 0 0 154 36 18.9474 ZNF175 0 genome.wustl.edu 37 19 52091293 52091293 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 52091293 52091293 C A SNP ZNF175 ENST00000262259 human ensembl 74_37 +1 known missense c.1709 p.S570Y 0.001 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 ZNF175 HGNC ENSG00000105497 116 0 0 139 12 7.94702 ZNF432 0 genome.wustl.edu 37 19 52537838 52537838 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 52537838 52537838 C T SNP ZNF432 ENST00000221315 human ensembl 74_37 -1 known missense c.1094 p.R365Q 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 ZNF432 HGNC ENSG00000256087 212 0 0 186 20 9.70874 ZNF578 0 genome.wustl.edu 37 19 53014933 53014933 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 53014933 53014933 T C SNP ZNF578 ENST00000421239 human ensembl 74_37 +1 known silent c.1299 p.G433 0.009 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 ZNF578 HGNC ENSG00000258405 144 0 0 106 47 30.719 ZNF578 0 genome.wustl.edu 37 19 53015194 53015194 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 53015194 53015194 T G SNP ZNF578 ENST00000421239 human ensembl 74_37 +1 known missense c.1560 p.F520L 0.001 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 ZNF578 HGNC ENSG00000258405 109 0 0 126 31 19.7452 ZNF808 0 genome.wustl.edu 37 19 53058569 53058569 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 53058569 53058569 C A SNP ZNF808 ENST00000359798 human ensembl 74_37 +1 known missense c.2400 p.F800L 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF808 HGNC ENSG00000198482 300 0 0 302 21 6.50155 ZNF331 0 genome.wustl.edu 37 19 54080198 54080198 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 54080198 54080198 G T SNP ZNF331 ENST00000253144 human ensembl 74_37 +1 known missense c.384 p.E128D 1.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF331 HGNC ENSG00000130844 131 0 0 162 17 9.49721 MIR519A1 0 genome.wustl.edu 37 19 54255697 54255697 + RNA SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 54255697 54255697 G T SNP MIR519A1 ENST00000385257 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR519A1 HGNC ENSG00000207992 219 0 0 262 15 5.41516 LILRB5 0 genome.wustl.edu 37 19 54754730 54754730 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 54754730 54754730 C T SNP LILRB5 ENST00000449561 human ensembl 74_37 -1 known missense c.1696 p.E566K 0.001 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB5 HGNC ENSG00000105609 137 0 0 117 43 26.875 LILRB4 0 genome.wustl.edu 37 19 55175832 55175832 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 55175832 55175832 C A SNP LILRB4 ENST00000270452 human ensembl 74_37 +1 known missense c.551 p.P184H 0.049 pfam_Immunoglobulin,pfscan_Ig-like_dom pfam_Immunoglobulin,pfscan_Ig-like_dom - no_errors LILRB4 HGNC ENSG00000186818 155 0 0 151 15 9.03614 PPP1R12C 0 genome.wustl.edu 37 19 55614869 55614869 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 55614869 55614869 C T SNP PPP1R12C ENST00000263433 human ensembl 74_37 -1 known silent c.639 p.L213 0.996 pirsf_Pase-1_reg_su_12A/B/C_euk,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12C HGNC ENSG00000125503 104 0 0 113 14 11.0236 DNAAF3 0 genome.wustl.edu 37 19 55670584 55670584 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 55670584 55670584 T G SNP DNAAF3 ENST00000527223 human ensembl 74_37 -1 known missense c.1673 p.E558A 0.007 NULL NULL - no_errors DNAAF3 HGNC ENSG00000167646 52 0 0 53 33 38.3721 NLRP9 0 genome.wustl.edu 37 19 56226483 56226483 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 56226483 56226483 A G SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known silent c.2439 p.D813 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 133 0 0 139 10 6.71141 NLRP4 0 genome.wustl.edu 37 19 56372862 56372862 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 56372862 56372862 T C SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known missense c.1967 p.V656A 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 115 0 0 138 22 13.75 ZNF749 0 genome.wustl.edu 37 19 57954666 57954666 + Nonsense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 57954666 57954666 G A SNP ZNF749 ENST00000334181 human ensembl 74_37 +1 known nonsense c.150 p.W50* 0.071 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF749 HGNC ENSG00000186230 42 0 0 29 16 35.5556 ZNF772 0 genome.wustl.edu 37 19 57985304 57985304 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 57985304 57985304 C G SNP ZNF772 ENST00000343280 human ensembl 74_37 -1 known missense c.808 p.E270Q 0.906 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 ZNF772 HGNC ENSG00000197128 129 0 0 151 8 5.03145 ZNF324 0 genome.wustl.edu 37 19 58982974 58982974 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 58982974 58982974 C G SNP ZNF324 ENST00000196482 human ensembl 74_37 +1 known missense c.1115 p.A372G 0.001 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 ZNF324 HGNC ENSG00000083812 37 0 0 54 3 5.26316 AFF3 0 genome.wustl.edu 37 2 100625366 100625366 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 100625366 100625366 G A SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.157 p.R53W 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 33 0 0 35 7 16.6667 TBC1D8 0 genome.wustl.edu 37 2 101644883 101644883 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 101644883 101644883 T C SNP TBC1D8 ENST00000409318 human ensembl 74_37 -1 known missense c.2234 p.H745R 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8 HGNC ENSG00000204634 144 0 0 131 8 5.7554 MAP4K4 0 genome.wustl.edu 37 2 102441785 102441785 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 102441785 102441785 T G SNP MAP4K4 ENST00000324219 human ensembl 74_37 +1 known missense c.311 p.V104G 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_Citron,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 MAP4K4 HGNC ENSG00000071054 35 0 0 17 18 51.4286 ST6GAL2 0 genome.wustl.edu 37 2 107459501 107459501 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 107459501 107459501 G A SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known silent c.933 p.G311 0.925 pfam_Glyco_trans_29 pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 28 0 0 12 7 36.8421 RGPD4 0 genome.wustl.edu 37 2 108488420 108488420 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 108488420 108488420 A C SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.3960 p.E1320D 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 232 0 0 180 16 8.16327 PSD4 0 genome.wustl.edu 37 2 113940884 113940884 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 113940884 113940884 C T SNP PSD4 ENST00000245796 human ensembl 74_37 +1 known missense c.851 p.P284L 0.003 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 114 0 0 86 7 7.52688 LRP1B 0 genome.wustl.edu 37 2 141114004 141114004 + Nonsense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 141114004 141114004 C A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known nonsense c.11437 p.G3813* 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom 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 91 0 0 90 9 9.09091 MBD5 0 genome.wustl.edu 37 2 149225988 149225988 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 149225988 149225988 C A SNP MBD5 ENST00000407073 human ensembl 74_37 +1 known missense c.476 p.S159Y 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 47 0 0 62 4 6.06061 PLA2R1 0 genome.wustl.edu 37 2 160804011 160804011 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 160804011 160804011 A T SNP PLA2R1 ENST00000283243 human ensembl 74_37 -1 known missense c.3769 p.F1257I 1.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 130 0 0 80 74 48.0519 SCN3A 0 genome.wustl.edu 37 2 165947640 165947640 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 165947640 165947640 A T SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.5023 p.S1675T 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 201 0 0 188 16 7.84314 SCN1A 0 genome.wustl.edu 37 2 166892600 166892600 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 166892600 166892600 C A SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known silent c.3387 p.T1129 0.972 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 204 1 0.487805 172 11 6.01093 XIRP2 0 genome.wustl.edu 37 2 168105470 168105470 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 168105470 168105470 C T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.7568 p.S2523L 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 148 1 0.671141 126 51 28.8136 MYO3B 0 genome.wustl.edu 37 2 171509511 171509511 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 171509511 171509511 T G SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known missense c.3933 p.D1311E 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 165 0 0 148 12 7.5 WIPF1 0 genome.wustl.edu 37 2 175432672 175432672 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 175432672 175432672 G T SNP WIPF1 ENST00000272746 human ensembl 74_37 -1 known missense c.1259 p.P420H 0.999 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF1 HGNC ENSG00000115935 118 0 0 94 25 21.0084 OSBPL6 0 genome.wustl.edu 37 2 179260189 179260189 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 179260189 179260189 A G SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.2720 p.D907G 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 53 0 0 49 38 43.6782 TTN 0 genome.wustl.edu 37 2 179426506 179426506 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 179426506 179426506 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.76649 p.R25550H 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 73 0 0 76 9 10.5882 STAT1 0 genome.wustl.edu 37 2 191841684 191841684 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 191841684 191841684 G A SNP STAT1 ENST00000361099 human ensembl 74_37 -1 known silent c.1941 p.I647 0.993 pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC ENSG00000115415 107 0 0 133 11 7.63889 MARS2 0 genome.wustl.edu 37 2 198570914 198570914 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 198570914 198570914 T C SNP MARS2 ENST00000282276 human ensembl 74_37 +1 known missense c.785 p.L262S 1.000 pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS2 HGNC ENSG00000247626 142 0 0 63 72 53.3333 PLCL1 0 genome.wustl.edu 37 2 198949122 198949122 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 198949122 198949122 T C SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.881 p.L294P 0.997 NULL 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 177 0 0 165 13 7.30337 TRAK2 0 genome.wustl.edu 37 2 202252648 202252648 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 202252648 202252648 G A SNP TRAK2 ENST00000332624 human ensembl 74_37 -1 known missense c.1474 p.R492C 1.000 pfam_Traffickng_kinesin-bd_prot_dom pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK2 HGNC ENSG00000115993 225 0 0 253 14 5.24345 FZD7 0 genome.wustl.edu 37 2 202900333 202900333 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 202900333 202900333 C T SNP FZD7 ENST00000286201 human ensembl 74_37 +1 known silent c.963 p.D321 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD7 HGNC ENSG00000155760 149 0 0 134 9 6.29371 PUM2 0 genome.wustl.edu 37 2 20455071 20455071 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 20455071 20455071 C T SNP PUM2 ENST00000361078 human ensembl 74_37 -1 known missense c.2660 p.C887Y 1.000 pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 102 0 0 70 5 6.66667 FASTKD2 0 genome.wustl.edu 37 2 207655404 207655404 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 207655404 207655404 G A SNP FASTKD2 ENST00000236980 human ensembl 74_37 +1 known silent c.2007 p.V669 1.000 pfam_RAP,smart_RAP pfam_FAST_Leu-rich,pfam_FAST_2,pfam_RAP,smart_RAP - no_errors FASTKD2 HGNC ENSG00000118246 192 0 0 112 68 37.7778 CPS1 0 genome.wustl.edu 37 2 211464283 211464283 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 211464283 211464283 G T SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.1565 p.C522F 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 109 0 0 82 7 7.86517 IKZF2 0 genome.wustl.edu 37 2 213872801 213872801 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 213872801 213872801 C G SNP IKZF2 ENST00000434687 human ensembl 74_37 -1 known missense c.864 p.K288N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF2 HGNC ENSG00000030419 42 0 0 28 5 15.1515 PAX3 0 genome.wustl.edu 37 2 223066836 223066836 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 223066836 223066836 G A SNP PAX3 ENST00000392069 human ensembl 74_37 -1 known missense c.1247 p.T416I 1.000 NULL pfam_Paired_dom,pfam_Pax7,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 50 0 0 38 5 11.6279 CCDC140 0 genome.wustl.edu 37 2 223169089 223169089 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 223169089 223169089 G T SNP CCDC140 ENST00000295226 human ensembl 74_37 +1 known missense c.468 p.K156N 0.000 NULL NULL - no_errors CCDC140 HGNC ENSG00000163081 30 0 0 17 4 19.0476 SLC19A3 0 genome.wustl.edu 37 2 228563931 228563931 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 228563931 228563931 A G SNP SLC19A3 ENST00000258403 human ensembl 74_37 -1 known missense c.500 p.M167T 0.010 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC ENSG00000135917 205 0 0 159 15 8.62069 SP100 0 genome.wustl.edu 37 2 231331838 231331838 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 231331838 231331838 T C SNP SP100 ENST00000340126 human ensembl 74_37 +1 known missense c.1199 p.I400T 0.004 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 237 0 0 221 12 5.15021 NMUR1 0 genome.wustl.edu 37 2 232389779 232389779 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 232389779 232389779 G A SNP NMUR1 ENST00000305141 human ensembl 74_37 -1 known missense c.1256 p.A419V 0.002 prints_NeuromedU_rcpt_1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_1,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn - no_errors NMUR1 HGNC ENSG00000171596 76 0 0 71 10 12.3457 ECEL1 0 genome.wustl.edu 37 2 233345162 233345162 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 233345162 233345162 C T SNP ECEL1 ENST00000304546 human ensembl 74_37 -1 known silent c.2175 p.S725 0.049 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 89 0 0 78 6 7.14286 ASB18 0 genome.wustl.edu 37 2 237123006 237123006 + Missense_Mutation SNP T T A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 237123006 237123006 T A SNP ASB18 ENST00000409749 human ensembl 74_37 -1 known missense c.1100 p.K367M 1.000 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB18 HGNC ENSG00000182177 9 0 0 9 3 25 AQP12B 0 genome.wustl.edu 37 2 241621881 241621881 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 241621881 241621881 G T SNP AQP12B ENST00000407834 human ensembl 74_37 -1 known missense c.374 p.A125D 0.104 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP - no_errors AQP12B HGNC ENSG00000185176 42 0 0 23 21 47.7273 OTOF 0 genome.wustl.edu 37 2 26687825 26687825 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 26687825 26687825 T G SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.4872 p.K1624N 0.999 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 90 0 0 100 9 8.25688 ALK 0 genome.wustl.edu 37 2 29420411 29420411 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 29420411 29420411 G T SNP ALK ENST00000389048 human ensembl 74_37 -1 known missense c.4070 p.P1357H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 132 0 0 51 45 46.875 XDH 0 genome.wustl.edu 37 2 31628782 31628782 + Silent SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 31628782 31628782 T G SNP XDH ENST00000379416 human ensembl 74_37 -1 known silent c.91 p.R31 1.000 pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 115 0 0 55 56 50.4505 DYSF 0 genome.wustl.edu 37 2 71908203 71908203 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 71908203 71908203 G A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.6112 p.D2038N 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 54 0 0 51 6 10.5263 EIF2AK3 0 genome.wustl.edu 37 2 88887534 88887534 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 88887534 88887534 A G SNP EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known silent c.1395 p.S465 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 73 0 0 42 20 32.2581 TSGA10 0 genome.wustl.edu 37 2 99636878 99636878 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 99636878 99636878 C T SNP TSGA10 ENST00000355053 human ensembl 74_37 -1 known missense c.1682 p.R561K 1.000 NULL NULL - no_errors TSGA10 HGNC ENSG00000135951 60 0 0 49 28 36.3636 EIF5B 0 genome.wustl.edu 37 2 99978090 99978090 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 2 99978090 99978090 G A SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known silent c.726 p.K242 0.957 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 99 0 0 37 48 56.4706 SEC23B 0 genome.wustl.edu 37 20 18541299 18541299 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 18541299 18541299 C G SNP SEC23B ENST00000262544 human ensembl 74_37 +1 known missense c.2219 p.T740S 0.998 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23B HGNC ENSG00000101310 94 0 0 124 8 6.06061 XRN2 0 genome.wustl.edu 37 20 21312984 21312984 + Missense_Mutation SNP T T A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 21312984 21312984 T A SNP XRN2 ENST00000377191 human ensembl 74_37 +1 known missense c.764 p.F255Y 1.000 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 80 0 0 64 45 41.2844 DYNLRB1 0 genome.wustl.edu 37 20 33122455 33122455 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 33122455 33122455 G A SNP DYNLRB1 ENST00000417166 human ensembl 74_37 +1 known missense c.103 p.D35N 1.000 pfam_Dynein_light-rel,smart_Dynein_light-rel pfam_Dynein_light-rel,smart_Dynein_light-rel - no_errors DYNLRB1 HGNC ENSG00000125971 113 0 0 84 23 21.4953 RBM39 0 genome.wustl.edu 37 20 34320013 34320013 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 34320013 34320013 C G SNP RBM39 ENST00000253363 human ensembl 74_37 -1 known missense c.146 p.R49T 1.000 tigrfam_CC1_SF pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_CC1_SF - no_errors RBM39 HGNC ENSG00000131051 181 0 0 172 10 5.49451 EPB41L1 0 genome.wustl.edu 37 20 34765875 34765875 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 34765875 34765875 A T SNP EPB41L1 ENST00000338074 human ensembl 74_37 +1 known missense c.344 p.K115I 1.000 pfam_FERM_N,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Ez/rad/moesin_like pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L1 HGNC ENSG00000088367 66 0 0 62 9 12.6761 SOGA1 0 genome.wustl.edu 37 20 35436976 35436976 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 35436976 35436976 C G SNP SOGA1 ENST00000237536 human ensembl 74_37 -1 known missense c.2754 p.W918C 1.000 NULL pfam_SOGA - no_errors SOGA1 HGNC ENSG00000149639 30 0 0 27 3 10 GFRA4 0 genome.wustl.edu 37 20 3641466 3641466 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 3641466 3641466 G A SNP GFRA4 ENST00000319242 human ensembl 74_37 -1 known missense c.517 p.R173C 0.000 pfam_GDNF/GAS1,smart_GDNF/GAS1 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt - no_errors GFRA4 HGNC ENSG00000125861 12 0 0 12 6 33.3333 HSPA12B 0 genome.wustl.edu 37 20 3726148 3726148 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 3726148 3726148 C A SNP HSPA12B ENST00000254963 human ensembl 74_37 +1 known silent c.462 p.T154 1.000 NULL NULL - no_errors HSPA12B HGNC ENSG00000132622 99 0 0 133 8 5.67376 RBPJL 0 genome.wustl.edu 37 20 43938247 43938247 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 43938247 43938247 C T SNP RBPJL ENST00000343694 human ensembl 74_37 +1 known missense c.172 p.R58C 0.994 superfamily_p53-like_TF_DNA-bd pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJL HGNC ENSG00000124232 67 0 0 74 28 27.451 SPATA25 0 genome.wustl.edu 37 20 44515369 44515369 + Silent SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 44515369 44515369 G C SNP SPATA25 ENST00000372519 human ensembl 74_37 -1 known silent c.471 p.L157 1.000 NULL NULL - no_errors SPATA25 HGNC ENSG00000149634 142 0 0 182 12 6.18557 PREX1 0 genome.wustl.edu 37 20 47351100 47351100 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 47351100 47351100 C A SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known missense c.502 p.V168L 0.987 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 268 0 0 310 20 6.06061 PROKR2 0 genome.wustl.edu 37 20 5283350 5283350 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 5283350 5283350 C T SNP PROKR2 ENST00000217270 human ensembl 74_37 -1 known missense c.491 p.R164Q 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 156 0 0 94 53 36.0544 GID8 0 genome.wustl.edu 37 20 61574919 61574919 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 61574919 61574919 G T SNP GID8 ENST00000266069 human ensembl 74_37 +1 known missense c.388 p.A130S 1.000 pfam_CTLH/CRA,smart_CRA_dom pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors GID8 HGNC ENSG00000101193 86 0 0 113 16 12.4031 UCKL1 0 genome.wustl.edu 37 20 62577873 62577873 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 62577873 62577873 G C SNP UCKL1 ENST00000354216 human ensembl 74_37 -1 known missense c.237 p.I79M 1.000 NULL pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC ENSG00000198276 65 0 0 92 6 6.12245 ANGPT4 0 genome.wustl.edu 37 20 855036 855036 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 855036 855036 G T SNP ANGPT4 ENST00000381922 human ensembl 74_37 -1 known missense c.1242 p.S414R 0.329 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 ANGPT4 HGNC ENSG00000101280 142 0 0 105 55 34.375 TPTE 0 genome.wustl.edu 37 21 10908859 10908859 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 21 10908859 10908859 A G SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.1486 p.F496L 0.999 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 72 0 0 60 5 7.69231 CXADR 0 genome.wustl.edu 37 21 18937762 18937762 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 21 18937762 18937762 C T SNP CXADR ENST00000284878 human ensembl 74_37 +1 known missense c.850 p.P284S 1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CXADR HGNC ENSG00000154639 103 0 0 69 8 10.3896 BACH1 0 genome.wustl.edu 37 21 30698621 30698621 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 21 30698621 30698621 T G SNP BACH1 ENST00000286800 human ensembl 74_37 +1 known missense c.476 p.L159R 0.000 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC ENSG00000156273 119 0 0 83 6 6.74157 DYRK1A 0 genome.wustl.edu 37 21 38845075 38845075 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 21 38845075 38845075 A G SNP DYRK1A ENST00000398960 human ensembl 74_37 +1 known missense c.100 p.M34V 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 DYRK1A HGNC ENSG00000157540 147 0 0 133 8 5.67376 PRDM15 0 genome.wustl.edu 37 21 43221520 43221520 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 21 43221520 43221520 C T SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known silent c.4404 p.T1468 0.182 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 116 1 0.854701 102 6 5.55556 KRTAP10-3 0 genome.wustl.edu 37 21 45978444 45978444 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 21 45978444 45978444 C G SNP KRTAP10-3 ENST00000391620 human ensembl 74_37 -1 known missense c.155 p.C52S 0.242 NULL NULL - no_errors KRTAP10-3 HGNC ENSG00000212935 155 0 0 107 11 9.32203 KRTAP10-12 0 genome.wustl.edu 37 21 46117590 46117590 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 21 46117590 46117590 G C SNP KRTAP10-12 ENST00000400365 human ensembl 74_37 +1 known missense c.474 p.K158N 0.206 NULL NULL - no_errors KRTAP10-12 HGNC ENSG00000189169 492 0 0 388 36 8.49057 PI4KAP1 0 genome.wustl.edu 37 22 20394552 20394552 + RNA SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 22 20394552 20394552 A G SNP PI4KAP1 ENST00000416922 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PI4KAP1 HGNC ENSG00000215513 95 0 0 98 12 10.9091 LZTR1 0 genome.wustl.edu 37 22 21336843 21336843 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 22 21336843 21336843 C A SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known missense c.183 p.D61E 1.000 NULL pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 38 0 0 18 16 47.0588 ENSG00000267954 0 genome.wustl.edu 37 22 24125734 24125734 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 22 24125734 24125734 A G SNP ENSG00000267954 ENST00000598975 human ensembl 74_37 -1 known missense c.412 p.W138R 0.000 NULL NULL - no_errors AP000349.1 Clone_based_ensembl_gene ENSG00000267954 137 0 0 122 12 8.95522 SEC14L4 0 genome.wustl.edu 37 22 30890901 30890901 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 22 30890901 30890901 C A SNP SEC14L4 ENST00000255858 human ensembl 74_37 -1 known silent c.471 p.G157 0.918 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L4 HGNC ENSG00000133488 125 0 0 111 29 20.7143 SLC5A4 0 genome.wustl.edu 37 22 32644748 32644748 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 22 32644748 32644748 A G SNP SLC5A4 ENST00000266086 human ensembl 74_37 -1 known silent c.354 p.P118 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A4 HGNC ENSG00000100191 163 0 0 158 17 9.71429 TOM1 0 genome.wustl.edu 37 22 35719502 35719502 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 22 35719502 35719502 C T SNP TOM1 ENST00000411850 human ensembl 74_37 +1 known missense c.380 p.A127V 1.000 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_VHS pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC ENSG00000100284 217 0 0 241 16 6.22568 MYH9 0 genome.wustl.edu 37 22 36710282 36710282 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 22 36710282 36710282 C G SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.1462 p.E488Q 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,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 MYH9 HGNC ENSG00000100345 115 0 0 109 28 20.438 MCHR1 0 genome.wustl.edu 37 22 41077140 41077140 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 22 41077140 41077140 C A SNP MCHR1 ENST00000249016 human ensembl 74_37 +1 known silent c.477 p.L159 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt,prints_GPCR_Rhodpsn - no_errors MCHR1 HGNC ENSG00000128285 131 1 0.757576 129 15 10.4167 ZC3H7B 0 genome.wustl.edu 37 22 41726037 41726037 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 22 41726037 41726037 T G SNP ZC3H7B ENST00000351589 human ensembl 74_37 +1 known missense c.455 p.V152G 0.997 NULL pfam_Znf_CCCH,pfam_TPR_1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 91 0 0 50 32 39.0244 DZIP3 0 genome.wustl.edu 37 3 108394649 108394649 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 108394649 108394649 C A SNP DZIP3 ENST00000361582 human ensembl 74_37 +1 known missense c.2710 p.Q904K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 60 0 0 41 19 31.6667 MORC1 0 genome.wustl.edu 37 3 108724096 108724096 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 108724096 108724096 A C SNP MORC1 ENST00000232603 human ensembl 74_37 -1 known missense c.1834 p.F612V 0.010 NULL pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 89 0 0 58 24 29.2683 GTPBP8 0 genome.wustl.edu 37 3 112709897 112709897 + Silent SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 112709897 112709897 T G SNP GTPBP8 ENST00000383678 human ensembl 74_37 +1 known silent c.51 p.P17 0.000 NULL pfam_GTP_binding_domain,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,tigrfam_GTP-bd_ribosome_bio_YsxC - no_errors GTPBP8 HGNC ENSG00000163607 62 0 0 56 6 9.67742 KIAA2018 0 genome.wustl.edu 37 3 113376998 113376998 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 113376998 113376998 T C SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known silent c.3531 p.K1177 0.015 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 115 0 0 85 11 11.4583 GSK3B 0 genome.wustl.edu 37 3 119582417 119582417 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 119582417 119582417 T C SNP GSK3B ENST00000316626 human ensembl 74_37 -1 known silent c.984 p.A328 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors GSK3B HGNC ENSG00000082701 59 0 0 55 6 9.83607 MYLK 0 genome.wustl.edu 37 3 123419633 123419633 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 123419633 123419633 C T SNP MYLK ENST00000360304 human ensembl 74_37 -1 known silent c.2682 p.Q894 1.000 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 150 0 0 133 12 8.27586 SOX14 0 genome.wustl.edu 37 3 137483701 137483701 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 137483701 137483701 G T SNP SOX14 ENST00000306087 human ensembl 74_37 +1 known missense c.75 p.K25N 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX14 HGNC ENSG00000168875 108 0 0 80 40 33.3333 AADACL2 0 genome.wustl.edu 37 3 151451910 151451910 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 151451910 151451910 A C SNP AADACL2 ENST00000356517 human ensembl 74_37 +1 known missense c.87 p.E29D 0.856 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase - no_errors AADACL2 HGNC ENSG00000197953 76 0 0 52 23 30.6667 GPR149 0 genome.wustl.edu 37 3 154146450 154146450 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 154146450 154146450 T C SNP GPR149 ENST00000389740 human ensembl 74_37 -1 known missense c.955 p.K319E 0.984 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC ENSG00000174948 256 0 0 275 37 11.859 SLITRK3 0 genome.wustl.edu 37 3 164907018 164907018 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 164907018 164907018 A G SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known missense c.1601 p.L534P 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 77 0 0 71 5 6.57895 PEX5L 0 genome.wustl.edu 37 3 179529623 179529623 + Nonsense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 179529623 179529623 C A SNP PEX5L ENST00000467460 human ensembl 74_37 -1 known nonsense c.1120 p.E374* 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 118 0 0 102 51 33.3333 VPS8 0 genome.wustl.edu 37 3 184648266 184648266 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 184648266 184648266 C A SNP VPS8 ENST00000287546 human ensembl 74_37 +1 known silent c.2808 p.V936 1.000 superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 86 0 0 84 12 12.5 MUC4 0 genome.wustl.edu 37 3 195508393 195508393 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 195508393 195508393 A G SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.10058 p.V3353A 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 19 0 0 22 3 12 SMCO1 0 genome.wustl.edu 37 3 196234881 196234881 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 196234881 196234881 C A SNP SMCO1 ENST00000397537 human ensembl 74_37 -1 known missense c.522 p.K174N 1.000 NULL NULL - no_errors SMCO1 HGNC ENSG00000214097 103 0 0 145 9 5.84416 EFHB 0 genome.wustl.edu 37 3 19930051 19930051 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 19930051 19930051 A G SNP EFHB ENST00000295824 human ensembl 74_37 -1 known silent c.1818 p.F606 0.999 pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFHB HGNC ENSG00000163576 18 0 0 15 8 34.7826 ZNF385D 0 genome.wustl.edu 37 3 21706425 21706425 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 21706425 21706425 G C SNP ZNF385D ENST00000281523 human ensembl 74_37 -1 known missense c.118 p.P40A 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 92 0 0 90 6 6.25 SCN5A 0 genome.wustl.edu 37 3 38647601 38647601 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 38647601 38647601 G T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.1179 p.F393L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 85 0 0 53 6 10.1695 ZKSCAN7 0 genome.wustl.edu 37 3 44612512 44612512 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 44612512 44612512 G A SNP ZKSCAN7 ENST00000273320 human ensembl 74_37 +1 known missense c.1910 p.C637Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,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_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN7 HGNC ENSG00000196345 121 0 0 85 6 6.59341 CCR9 0 genome.wustl.edu 37 3 45942730 45942730 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 45942730 45942730 G T SNP CCR9 ENST00000357632 human ensembl 74_37 +1 known missense c.450 p.Q150H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCRL1,prints_Chemokine_CXCR4 - no_errors CCR9 HGNC ENSG00000173585 120 0 0 80 7 8.04598 LRRC2 0 genome.wustl.edu 37 3 46593061 46593061 + Silent SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 46593061 46593061 G T SNP LRRC2 ENST00000296144 human ensembl 74_37 -1 known silent c.21 p.V7 0.866 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC2 HGNC ENSG00000163827 111 0 0 59 27 31.3953 KLHL18 0 genome.wustl.edu 37 3 47361166 47361166 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 47361166 47361166 C T SNP KLHL18 ENST00000232766 human ensembl 74_37 +1 known silent c.153 p.A51 0.977 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL18 HGNC ENSG00000114648 205 0 0 129 28 17.8344 BSN 0 genome.wustl.edu 37 3 49698740 49698740 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 49698740 49698740 G T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.9462 p.E3154D 0.994 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 116 0 0 72 12 14.2857 MST1R 0 genome.wustl.edu 37 3 49936321 49936321 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 49936321 49936321 T C SNP MST1R ENST00000296474 human ensembl 74_37 -1 known silent c.1527 p.L509 0.193 pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Semap_dom,pfscan_Semap_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 157 0 0 121 11 8.33333 STAB1 0 genome.wustl.edu 37 3 52540765 52540765 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 52540765 52540765 G A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.1888 p.A630T 0.935 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,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 62 0 0 43 9 17.3077 TKT 0 genome.wustl.edu 37 3 53265525 53265525 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 53265525 53265525 T G SNP TKT ENST00000423525 human ensembl 74_37 -1 known missense c.790 p.K264Q 1.000 pfam_Transketolase_N pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKT HGNC ENSG00000163931 97 0 0 63 6 8.69565 CACNA1D 0 genome.wustl.edu 37 3 53699702 53699702 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 53699702 53699702 T C SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.782 p.L261P 1.000 pfam_Ion_trans_dom,prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 138 1 0.719424 106 15 12.3967 CACNA1D 0 genome.wustl.edu 37 3 53845335 53845335 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 53845335 53845335 C G SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.6448 p.L2150V 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 109 0 0 52 8 13.3333 CACNA2D3 0 genome.wustl.edu 37 3 54537528 54537528 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 54537528 54537528 T G SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known missense c.391 p.F131V 1.000 pfam_VWA_N pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 119 0 0 55 40 42.1053 FLNB 0 genome.wustl.edu 37 3 58112362 58112362 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 58112362 58112362 T C SNP FLNB ENST00000295956 human ensembl 74_37 +1 known silent c.4095 p.V1365 0.107 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 101 0 0 93 22 19.1304 CADPS 0 genome.wustl.edu 37 3 62631496 62631496 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 62631496 62631496 C T SNP CADPS ENST00000383710 human ensembl 74_37 -1 known missense c.1226 p.G409D 1.000 superfamily_C2_dom pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 114 0 0 116 9 7.2 MAGI1 0 genome.wustl.edu 37 3 65376868 65376868 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 65376868 65376868 G T SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known missense c.2365 p.P789T 1.000 superfamily_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 153 0 0 83 44 34.6457 BRPF1 0 genome.wustl.edu 37 3 9780897 9780897 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 9780897 9780897 G A SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known missense c.814 p.E272K 1.000 superfamily_Znf_FYVE_PHD pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 73 0 0 35 34 49.2754 ST3GAL6 0 genome.wustl.edu 37 3 98489746 98489746 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 3 98489746 98489746 G C SNP ST3GAL6 ENST00000394162 human ensembl 74_37 +1 known missense c.113 p.R38P 0.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL6 HGNC ENSG00000064225 113 0 0 111 6 5.12821 SLC9B1 0 genome.wustl.edu 37 4 103831632 103831632 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 103831632 103831632 C A SNP SLC9B1 ENST00000296422 human ensembl 74_37 -1 known missense c.1050 p.L350F 0.002 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors SLC9B1 HGNC ENSG00000164037 76 0 0 28 39 58.209 ANK2 0 genome.wustl.edu 37 4 114158238 114158238 + Silent SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 114158238 114158238 G T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known silent c.579 p.L193 1.000 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 235 0 0 85 82 49.1018 ANK2 0 genome.wustl.edu 37 4 114251488 114251488 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 114251488 114251488 G T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.2987 p.R996L 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 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 63 0 0 25 14 35.8974 FAT4 0 genome.wustl.edu 37 4 126241856 126241856 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 126241856 126241856 T C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.4290 p.V1430 0.081 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 168 0 0 69 90 56.6038 SLC25A31 0 genome.wustl.edu 37 4 128665855 128665855 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 128665855 128665855 G T SNP SLC25A31 ENST00000281154 human ensembl 74_37 +1 known missense c.261 p.L87F 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor - no_errors SLC25A31 HGNC ENSG00000151475 144 0 0 140 8 5.40541 HSP90AB2P 0 genome.wustl.edu 37 4 13339790 13339790 + RNA SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 13339790 13339790 G T SNP HSP90AB2P ENST00000602906 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSP90AB2P HGNC ENSG00000205940 32 0 0 29 3 9.375 TBC1D9 0 genome.wustl.edu 37 4 141607597 141607597 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 141607597 141607597 G A SNP TBC1D9 ENST00000442267 human ensembl 74_37 -1 known silent c.261 p.I87 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 167 0 0 123 9 6.81818 ZNF330 0 genome.wustl.edu 37 4 142151341 142151341 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 142151341 142151341 C T SNP ZNF330 ENST00000262990 human ensembl 74_37 +1 known missense c.440 p.S147F 1.000 pfam_NOA36 pfam_NOA36 - no_errors ZNF330 HGNC ENSG00000109445 158 0 0 138 11 7.38255 CPEB2 0 genome.wustl.edu 37 4 15054167 15054167 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 15054167 15054167 G T SNP CPEB2 ENST00000538197 human ensembl 74_37 +1 known missense c.2330 p.R777L 1.000 pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 109 0 0 60 26 30.2326 FAM149A 0 genome.wustl.edu 37 4 187073160 187073160 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 187073160 187073160 C T SNP FAM149A ENST00000356371 human ensembl 74_37 +1 known missense c.920 p.A307V 0.006 pfam_DUF3719 pfam_DUF3719 - no_errors FAM149A HGNC ENSG00000109794 95 0 0 79 7 8.13953 LGI2 0 genome.wustl.edu 37 4 25005761 25005761 + Missense_Mutation SNP T T A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 25005761 25005761 T A SNP LGI2 ENST00000382114 human ensembl 74_37 -1 known missense c.950 p.D317V 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI2 HGNC ENSG00000153012 276 0 0 159 54 25.3521 LGI2 0 genome.wustl.edu 37 4 25030156 25030156 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 25030156 25030156 A C SNP LGI2 ENST00000382114 human ensembl 74_37 -1 known missense c.242 p.F81C 1.000 NULL pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI2 HGNC ENSG00000153012 34 0 0 30 5 14.2857 WDR19 0 genome.wustl.edu 37 4 39269706 39269706 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 39269706 39269706 C A SNP WDR19 ENST00000399820 human ensembl 74_37 +1 known missense c.3353 p.S1118Y 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 15 0 0 9 4 30.7692 GABRG1 0 genome.wustl.edu 37 4 46060558 46060558 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 46060558 46060558 T G SNP GABRG1 ENST00000295452 human ensembl 74_37 -1 known missense c.707 p.Y236S 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 90 0 0 78 5 6.0241 FRYL 0 genome.wustl.edu 37 4 48564917 48564917 + Nonsense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 48564917 48564917 G A SNP FRYL ENST00000358350 human ensembl 74_37 -1 known nonsense c.3685 p.Q1229* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 111 0 0 128 16 11.1111 PIGG 0 genome.wustl.edu 37 4 515550 515550 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 515550 515550 G C SNP PIGG ENST00000453061 human ensembl 74_37 +1 known missense c.1434 p.L478F 0.594 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 101 0 0 90 7 7.21649 JAKMIP1 0 genome.wustl.edu 37 4 6064093 6064093 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 6064093 6064093 G A SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known silent c.1506 p.Y502 0.546 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 120 0 0 65 32 32.9897 CABS1 0 genome.wustl.edu 37 4 71201316 71201316 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 71201316 71201316 A G SNP CABS1 ENST00000273936 human ensembl 74_37 +1 known missense c.560 p.D187G 0.001 NULL NULL - no_errors CABS1 HGNC ENSG00000145309 72 0 0 49 21 30 DCK 0 genome.wustl.edu 37 4 71859572 71859572 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 71859572 71859572 G A SNP DCK ENST00000286648 human ensembl 74_37 +1 known missense c.20 p.R7K 0.992 NULL pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase - no_errors DCK HGNC ENSG00000156136 52 0 0 35 4 10.2564 DCK 0 genome.wustl.edu 37 4 71859575 71859575 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 71859575 71859575 G A SNP DCK ENST00000286648 human ensembl 74_37 +1 known missense c.23 p.S8N 0.828 NULL pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase - no_errors DCK HGNC ENSG00000156136 52 0 0 39 5 11.3636 SLC4A4 0 genome.wustl.edu 37 4 72425947 72425947 + Silent SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 72425947 72425947 A T SNP SLC4A4 ENST00000425175 human ensembl 74_37 +1 known silent c.3075 p.G1025 1.000 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 44 0 0 40 7 14.8936 C4orf22 0 genome.wustl.edu 37 4 81884685 81884685 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 81884685 81884685 C T SNP C4orf22 ENST00000508675 human ensembl 74_37 +1 known silent c.672 p.D224 1.000 NULL NULL - no_errors C4orf22 HGNC ENSG00000197826 69 0 0 53 17 24.2857 FER 0 genome.wustl.edu 37 5 108521997 108521997 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 108521997 108521997 A G SNP FER ENST00000281092 human ensembl 74_37 +1 known missense c.2300 p.Q767R 0.997 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,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_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FER HGNC ENSG00000151422 155 0 0 50 41 45.0549 TRIM36 0 genome.wustl.edu 37 5 114469682 114469682 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 114469682 114469682 C A SNP TRIM36 ENST00000282369 human ensembl 74_37 -1 known missense c.1409 p.G470V 0.945 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM36 HGNC ENSG00000152503 110 0 0 77 6 7.22892 FBN2 0 genome.wustl.edu 37 5 127626550 127626550 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 127626550 127626550 T G SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.6319 p.N2107H 0.992 pirsf_FBN,superfamily_TB_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 111 0 0 36 33 47.8261 DNAH5 0 genome.wustl.edu 37 5 13727761 13727761 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 13727761 13727761 G C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.11888 p.S3963W 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 88 0 0 69 22 24.1758 DNAH5 0 genome.wustl.edu 37 5 13794163 13794163 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 13794163 13794163 G A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.7892 p.T2631M 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase 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 DNAH5 HGNC ENSG00000039139 72 0 0 67 5 6.94444 CTNNA1 0 genome.wustl.edu 37 5 138145885 138145885 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 138145885 138145885 C T SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known silent c.460 p.L154 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 124 0 0 89 14 13.5922 MATR3 0 genome.wustl.edu 37 5 138655022 138655022 + Splice_Site SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 138655022 138655022 G C SNP MATR3 ENST00000361059 human ensembl 74_37 +1 known splice_site c.1435-1 e8-1 1.000 - - - no_errors MATR3 HGNC ENSG00000015479 87 0 0 83 7 7.77778 PCDHA12 0 genome.wustl.edu 37 5 140256389 140256389 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 140256389 140256389 G T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.1332 p.E444D 0.029 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 305 0 0 201 26 11.4537 PCDHB1 0 genome.wustl.edu 37 5 140433053 140433053 + Silent SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 140433053 140433053 C G SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known silent c.1998 p.G666 1.000 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 265 0 0 144 22 13.253 PCDHGA1 0 genome.wustl.edu 37 5 140711041 140711041 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 140711041 140711041 G C SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known missense c.790 p.V264L 0.829 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 96 0 0 69 8 10.3896 PCDHGA2 0 genome.wustl.edu 37 5 140720683 140720683 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 140720683 140720683 G A SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known silent c.2145 p.R715 0.761 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 238 1 0.41841 174 26 13 PCDHGC4 0 genome.wustl.edu 37 5 140865468 140865468 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 140865468 140865468 A G SNP PCDHGC4 ENST00000306593 human ensembl 74_37 +1 known missense c.728 p.Q243R 1.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC4 HGNC ENSG00000242419 111 0 0 79 9 10.2273 TCOF1 0 genome.wustl.edu 37 5 149754318 149754318 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 149754318 149754318 G A SNP TCOF1 ENST00000451292 human ensembl 74_37 +1 known missense c.1222 p.E408K 0.002 pfam_TCS_treacle pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 55 0 0 48 5 9.43396 CYFIP2 0 genome.wustl.edu 37 5 156755028 156755028 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 156755028 156755028 C A SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known silent c.2202 p.I734 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 68 0 0 42 11 20.7547 FBXL7 0 genome.wustl.edu 37 5 15936904 15936904 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 15936904 15936904 G A SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.1085 p.R362Q 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 32 0 0 20 12 37.5 ATP10B 0 genome.wustl.edu 37 5 160114826 160114826 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 160114826 160114826 G C SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.256 p.L86V 1.000 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 ATP10B HGNC ENSG00000118322 156 0 0 118 7 5.6 SPEF2 0 genome.wustl.edu 37 5 35763686 35763686 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 35763686 35763686 A C SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.3683 p.K1228T 0.010 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 94 0 0 94 10 9.61538 ITGA2 0 genome.wustl.edu 37 5 52356848 52356848 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 52356848 52356848 C T SNP ITGA2 ENST00000296585 human ensembl 74_37 +1 known missense c.1430 p.T477M 0.017 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ENSG00000164171 101 0 0 79 8 9.1954 DDX4 0 genome.wustl.edu 37 5 55088539 55088539 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 55088539 55088539 C T SNP DDX4 ENST00000505374 human ensembl 74_37 +1 known missense c.1373 p.P458L 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX4 HGNC ENSG00000152670 74 0 0 34 38 52.7778 ANKRD55 0 genome.wustl.edu 37 5 55422885 55422885 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 55422885 55422885 G T SNP ANKRD55 ENST00000341048 human ensembl 74_37 -1 known missense c.661 p.P221T 0.603 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 - no_errors ANKRD55 HGNC ENSG00000164512 128 0 0 72 26 26.5306 CENPK 0 genome.wustl.edu 37 5 64814321 64814321 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 64814321 64814321 A G SNP CENPK ENST00000242872 human ensembl 74_37 -1 known missense c.791 p.L264S 1.000 pfam_Centromere_CenpK pfam_Centromere_CenpK,superfamily_Prefoldin - no_errors CENPK HGNC ENSG00000123219 107 0 0 95 10 9.52381 RASGRF2 0 genome.wustl.edu 37 5 80256739 80256739 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 80256739 80256739 G A SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known missense c.182 p.R61H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 56 0 0 38 23 37.7049 ACOT12 0 genome.wustl.edu 37 5 80640734 80640734 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 80640734 80640734 A G SNP ACOT12 ENST00000307624 human ensembl 74_37 -1 known silent c.900 p.F300 0.997 NULL pfam_Thioestr_supf,pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT12 HGNC ENSG00000172497 181 1 0.549451 122 12 8.95522 MAK 0 genome.wustl.edu 37 6 10791921 10791921 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 10791921 10791921 C A SNP MAK ENST00000313243 human ensembl 74_37 -1 known missense c.1303 p.D435Y 0.913 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 MAK HGNC ENSG00000111837 78 0 0 60 15 20 SCML4 0 genome.wustl.edu 37 6 108041883 108041883 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 108041883 108041883 A G SNP SCML4 ENST00000369021 human ensembl 74_37 -1 known missense c.910 p.S304P 0.001 NULL pfam_DUF3588 - no_errors SCML4 HGNC ENSG00000146285 287 0 0 180 25 12.1951 REV3L 0 genome.wustl.edu 37 6 111695309 111695309 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 111695309 111695309 G A SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.4249 p.P1417S 0.727 superfamily_RNaseH-like_dom 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 233 0 0 129 8 5.83942 RNF182 0 genome.wustl.edu 37 6 13977656 13977656 + Silent SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 13977656 13977656 A T SNP RNF182 ENST00000488300 human ensembl 74_37 +1 known silent c.306 p.P102 0.852 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF182 HGNC ENSG00000180537 78 0 0 41 38 48.1013 GPR126 0 genome.wustl.edu 37 6 142723187 142723187 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 142723187 142723187 A G SNP GPR126 ENST00000367609 human ensembl 74_37 +1 known missense c.1736 p.N579S 0.100 NULL pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 11 0 0 9 4 30.7692 GRM1 0 genome.wustl.edu 37 6 146350981 146350981 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 146350981 146350981 T G SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.328 p.W110G 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I 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 66 0 0 33 15 31.25 SYNE1 0 genome.wustl.edu 37 6 152551702 152551702 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 152551702 152551702 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.21175 p.N7059H 1.000 pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 219 1 0.454545 161 69 30 TIAM2 0 genome.wustl.edu 37 6 155561783 155561783 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 155561783 155561783 T C SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known silent c.3288 p.D1096 0.960 superfamily_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 91 0 0 98 10 9.25926 ZKSCAN4 0 genome.wustl.edu 37 6 28219399 28219399 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 28219399 28219399 G A SNP ZKSCAN4 ENST00000377294 human ensembl 74_37 -1 known silent c.360 p.S120 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN4 HGNC ENSG00000187626 82 0 0 40 37 48.0519 GNL1 0 genome.wustl.edu 37 6 30522404 30522404 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 30522404 30522404 C T SNP GNL1 ENST00000376621 human ensembl 74_37 -1 known missense c.548 p.R183Q 0.998 superfamily_P-loop_NTPase pfam_GTP_binding_domain,superfamily_P-loop_NTPase - no_errors GNL1 HGNC ENSG00000204590 152 1 0.653595 166 14 7.77778 DHX16 0 genome.wustl.edu 37 6 30630483 30630483 + Nonsense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 30630483 30630483 C A SNP DHX16 ENST00000376442 human ensembl 74_37 -1 known nonsense c.1465 p.E489* 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX16 HGNC ENSG00000204560 61 0 0 52 21 28.7671 SKIV2L 0 genome.wustl.edu 37 6 31937121 31937121 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 31937121 31937121 A G SNP SKIV2L ENST00000375394 human ensembl 74_37 +1 known missense c.3464 p.N1155S 0.932 pfam_DSH_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L HGNC ENSG00000204351 81 0 0 40 53 56.9892 TNXB 0 genome.wustl.edu 37 6 32035592 32035592 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 32035592 32035592 C A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.6390 p.K2130N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 122 0 0 141 9 6 PHF1 0 genome.wustl.edu 37 6 33381854 33381854 + Silent SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 33381854 33381854 C G SNP PHF1 ENST00000374516 human ensembl 74_37 +1 known silent c.720 p.G240 0.999 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF1 HGNC ENSG00000112511 156 0 0 102 69 40.3509 PPIL1 0 genome.wustl.edu 37 6 36839501 36839501 + Silent SNP T T A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 36839501 36839501 T A SNP PPIL1 ENST00000373699 human ensembl 74_37 -1 known silent c.204 p.T68 0.868 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL1 HGNC ENSG00000137168 169 0 0 201 14 6.51163 MOCS1 0 genome.wustl.edu 37 6 39874468 39874468 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 39874468 39874468 G C SNP MOCS1 ENST00000340692 human ensembl 74_37 -1 known missense c.1576 p.Q526E 1.000 pfam_Mopterin_CF_biosynth-C_dom,superfamily_Mopterin_CF_biosynth-C_dom,tigrfam_Mo_CF_biosynth-C pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC ENSG00000124615 110 0 0 144 9 5.88235 TJAP1 0 genome.wustl.edu 37 6 43473555 43473555 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 43473555 43473555 C A SNP TJAP1 ENST00000372445 human ensembl 74_37 +1 known missense c.1636 p.L546M 1.000 NULL NULL - no_errors TJAP1 HGNC ENSG00000137221 27 0 0 28 3 9.67742 MEP1A 0 genome.wustl.edu 37 6 46766906 46766906 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 46766906 46766906 G T SNP MEP1A ENST00000230588 human ensembl 74_37 +1 known missense c.250 p.A84S 1.000 pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,smart_Peptidase_Metallo pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 135 0 0 124 26 17.3333 PTCHD4 0 genome.wustl.edu 37 6 47846142 47846142 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 47846142 47846142 G A SNP PTCHD4 ENST00000339488 human ensembl 74_37 -1 known missense c.2438 p.S813F 1.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 156 0 0 134 49 26.776 DSP 0 genome.wustl.edu 37 6 7581434 7581434 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 7581434 7581434 G C SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.5011 p.E1671Q 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 150 0 0 151 36 19.2513 FILIP1 0 genome.wustl.edu 37 6 76024842 76024842 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 76024842 76024842 G A SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known silent c.706 p.L236 1.000 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 134 0 0 95 12 11.215 RRAGD 0 genome.wustl.edu 37 6 90082284 90082284 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 6 90082284 90082284 C A SNP RRAGD ENST00000369415 human ensembl 74_37 -1 known missense c.923 p.G308V 1.000 NULL pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase - no_errors RRAGD HGNC ENSG00000025039 123 1 0.806452 83 18 17.8218 GIGYF1 0 genome.wustl.edu 37 7 100283633 100283633 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 100283633 100283633 G T SNP GIGYF1 ENST00000275732 human ensembl 74_37 -1 known missense c.1018 p.P340T 0.034 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 83 0 0 77 10 11.4943 MUC17 0 genome.wustl.edu 37 7 100681119 100681119 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 100681119 100681119 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.6422 p.S2141L 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 452 1 0.220751 432 31 6.69546 RELN 0 genome.wustl.edu 37 7 103236988 103236988 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 103236988 103236988 C T SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.3454 p.G1152S 1.000 superfamily_Growth_fac_rcpt_N_dom,superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 130 0 0 120 38 24.0506 NAMPT 0 genome.wustl.edu 37 7 105894936 105894936 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 105894936 105894936 C A SNP NAMPT ENST00000222553 human ensembl 74_37 -1 known missense c.1104 p.M368I 1.000 pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase - no_errors NAMPT HGNC ENSG00000105835 104 0 0 109 15 12.0968 DOCK4 0 genome.wustl.edu 37 7 111379261 111379261 + Nonsense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 111379261 111379261 C A SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known nonsense c.5161 p.E1721* 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 93 0 0 114 8 6.55738 IFRD1 0 genome.wustl.edu 37 7 112115516 112115516 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 112115516 112115516 G A SNP IFRD1 ENST00000005558 human ensembl 74_37 +1 known missense c.1298 p.R433Q 1.000 pfam_Interferon-rel_develop_reg_C pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD1 HGNC ENSG00000006652 75 0 0 63 7 10 AKR1D1 0 genome.wustl.edu 37 7 137776528 137776528 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 137776528 137776528 T C SNP AKR1D1 ENST00000242375 human ensembl 74_37 +1 known silent c.276 p.N92 0.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1D1 HGNC ENSG00000122787 94 0 0 78 18 18.75 KIAA1549 0 genome.wustl.edu 37 7 138602845 138602845 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 138602845 138602845 G A SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known silent c.1527 p.A509 0.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 39 0 0 20 19 48.7179 MICALL2 0 genome.wustl.edu 37 7 1484998 1484998 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 1484998 1484998 G A SNP MICALL2 ENST00000297508 human ensembl 74_37 -1 known silent c.708 p.F236 0.732 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC ENSG00000164877 18 0 0 28 4 12.5 GIMAP1 0 genome.wustl.edu 37 7 150417880 150417880 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 150417880 150417880 G A SNP GIMAP1 ENST00000307194 human ensembl 74_37 +1 known missense c.788 p.R263Q 0.153 NULL pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP1 HGNC ENSG00000213203 19 0 0 8 4 33.3333 KCNH2 0 genome.wustl.edu 37 7 150648021 150648021 + Silent SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 150648021 150648021 G T SNP KCNH2 ENST00000262186 human ensembl 74_37 -1 known silent c.2133 p.I711 1.000 superfamily_cNMP-bd-like,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 84 0 0 46 6 11.5385 KMT2C 0 genome.wustl.edu 37 7 151841796 151841796 + Splice_Site SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 151841796 151841796 A G SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known splice_site c.14514+2 e56+2 1.000 - - - no_errors KMT2C HGNC ENSG00000055609 114 0 0 52 35 40.2299 KMT2C 0 genome.wustl.edu 37 7 151896453 151896453 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 151896453 151896453 T C SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.4184 p.Y1395C 0.951 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 65 0 0 31 23 42.5926 SNX13 0 genome.wustl.edu 37 7 17890474 17890474 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 17890474 17890474 A G SNP SNX13 ENST00000428135 human ensembl 74_37 -1 known silent c.951 p.L317 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX13 HGNC ENSG00000071189 48 0 0 73 4 5.19481 DNAH11 0 genome.wustl.edu 37 7 21583015 21583015 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 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 13 0 0 7 5 41.6667 HOXA4 0 genome.wustl.edu 37 7 27169073 27169073 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 27169073 27169073 C T SNP HOXA4 ENST00000360046 human ensembl 74_37 -1 known missense c.734 p.R245H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA4 HGNC ENSG00000197576 188 0 0 158 42 21 PLEKHA8 0 genome.wustl.edu 37 7 30094403 30094403 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 30094403 30094403 A G SNP PLEKHA8 ENST00000449726 human ensembl 74_37 +1 known missense c.875 p.D292G 0.031 NULL pfam_Glycolipid_transfer_prot_dom,pfam_Pleckstrin_homology,superfamily_Glycolipid_transfer_prot_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA8 HGNC ENSG00000106086 153 0 0 172 11 6.01093 PDE1C 0 genome.wustl.edu 37 7 31912947 31912947 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 31912947 31912947 G T SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known missense c.567 p.F189L 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 100 0 0 93 7 7 ABCA13 0 genome.wustl.edu 37 7 48284211 48284211 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 48284211 48284211 A C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.1301 p.N434T 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 72 0 0 66 8 10.8108 EGFR 0 genome.wustl.edu 37 7 55238880 55238880 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 55238880 55238880 A G SNP EGFR ENST00000275493 human ensembl 74_37 +1 known silent c.1893 p.P631 0.999 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 78 0 0 64 22 25.5814 SUMF2 0 genome.wustl.edu 37 7 56141899 56141899 + Silent SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 56141899 56141899 A G SNP SUMF2 ENST00000342190 human ensembl 74_37 +1 known silent c.429 p.A143 0.894 pfam_FGE_dom,superfamily_C-type_lectin_fold pfam_FGE_dom,superfamily_C-type_lectin_fold - no_errors SUMF2 HGNC ENSG00000129103 203 0 0 139 85 37.9464 CLIP2 0 genome.wustl.edu 37 7 73811409 73811409 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 73811409 73811409 T C SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known missense c.2726 p.L909P 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 93 0 0 102 9 8.10811 SEMA3E 0 genome.wustl.edu 37 7 83029445 83029445 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 83029445 83029445 G T SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known missense c.1265 p.P422Q 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 157 0 0 194 14 6.73077 DMTF1 0 genome.wustl.edu 37 7 86824042 86824042 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 86824042 86824042 A G SNP DMTF1 ENST00000331242 human ensembl 74_37 +1 known missense c.2071 p.I691V 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors DMTF1 HGNC ENSG00000135164 87 0 0 87 7 7.44681 AKAP9 0 genome.wustl.edu 37 7 91632182 91632182 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 91632182 91632182 A C SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.2987 p.K996T 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 96 0 0 122 8 6.15385 RBM48 0 genome.wustl.edu 37 7 92164028 92164028 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 92164028 92164028 A C SNP RBM48 ENST00000265732 human ensembl 74_37 +1 known missense c.761 p.N254T 0.000 NULL NULL - no_errors RBM48 HGNC ENSG00000127993 68 0 0 62 19 23.4568 ZKSCAN1 0 genome.wustl.edu 37 7 99627871 99627871 + Splice_Site SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 99627871 99627871 G A SNP ZKSCAN1 ENST00000324306 human ensembl 74_37 +1 known splice_site c.673-1 e4-1 1.000 - - - no_errors ZKSCAN1 HGNC ENSG00000106261 70 0 0 74 4 5.12821 ZSCAN21 0 genome.wustl.edu 37 7 99661834 99661834 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 99661834 99661834 A G SNP ZSCAN21 ENST00000292450 human ensembl 74_37 +1 known missense c.1016 p.K339R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZSCAN21 HGNC ENSG00000166529 104 0 0 83 36 30.2521 RP1L1 0 genome.wustl.edu 37 8 10469415 10469415 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 10469415 10469415 G T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.2193 p.D731E 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 95 0 0 90 9 9.09091 SOX7 0 genome.wustl.edu 37 8 10587797 10587797 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 10587797 10587797 C A SNP SOX7 ENST00000304501 human ensembl 74_37 -1 known missense c.147 p.M49I 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 70 0 0 92 12 11.5385 TRPS1 0 genome.wustl.edu 37 8 116617063 116617063 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 116617063 116617063 G A SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.1133 p.S378F 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 108 0 0 143 17 10.625 KIAA1456 0 genome.wustl.edu 37 8 12879339 12879339 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 12879339 12879339 C A SNP KIAA1456 ENST00000524591 human ensembl 74_37 +1 known missense c.1151 p.S384Y 0.371 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel - no_errors KIAA1456 HGNC ENSG00000250305 30 0 0 37 5 11.9048 ASAP1 0 genome.wustl.edu 37 8 131138264 131138264 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 131138264 131138264 C G SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.1453 p.G485R 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 124 0 0 137 9 6.16438 EFR3A 0 genome.wustl.edu 37 8 133014026 133014026 + Silent SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 133014026 133014026 C A SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known silent c.2178 p.I726 0.993 NULL superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 93 0 0 123 7 5.38462 FAM135B 0 genome.wustl.edu 37 8 139144847 139144847 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 139144847 139144847 A C SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.4210 p.Y1404D 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 263 0 0 161 102 38.7833 MAF1 0 genome.wustl.edu 37 8 145160829 145160829 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 145160829 145160829 C G SNP MAF1 ENST00000322428 human ensembl 74_37 +1 known missense c.141 p.F47L 1.000 pfam_Maf1,pirsf_Maf1 pfam_Maf1,pirsf_Maf1 - no_errors MAF1 HGNC ENSG00000179632 203 0 0 218 19 8.01688 MYOM2 0 genome.wustl.edu 37 8 2054318 2054318 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 2054318 2054318 T G SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.2929 p.L977V 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 85 0 0 70 18 20.4545 CSMD1 0 genome.wustl.edu 37 8 2855667 2855667 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 2855667 2855667 A C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.8246 p.F2749C 0.214 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 139 0 0 107 36 25.1748 DUSP4 0 genome.wustl.edu 37 8 29203038 29203038 + Missense_Mutation SNP T T A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 29203038 29203038 T A SNP DUSP4 ENST00000240101 human ensembl 74_37 -1 putative missense c.9 p.R3S 0.001 pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP4 HGNC ENSG00000120875 139 0 0 75 34 31.1927 NRG1 0 genome.wustl.edu 37 8 32620762 32620762 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 32620762 32620762 G T SNP NRG1 ENST00000521670 human ensembl 74_37 +1 known missense c.1295 p.R432I 1.000 NULL pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 151 0 0 106 36 25.3521 ADAM18 0 genome.wustl.edu 37 8 39466563 39466563 + Nonsense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 39466563 39466563 C A SNP ADAM18 ENST00000265707 human ensembl 74_37 +1 known nonsense c.191 p.S64* 0.877 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM18 HGNC ENSG00000168619 47 0 0 35 10 22.2222 RB1CC1 0 genome.wustl.edu 37 8 53573172 53573172 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 53573172 53573172 C G SNP RB1CC1 ENST00000025008 human ensembl 74_37 -1 known missense c.1673 p.W558S 1.000 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 70 0 0 63 8 11.2676 OPRK1 0 genome.wustl.edu 37 8 54163481 54163481 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 54163481 54163481 G A SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known silent c.117 p.N39 0.127 prints_Kappa_opi_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 35 0 0 32 5 13.5135 RP1 0 genome.wustl.edu 37 8 55534839 55534839 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 55534839 55534839 A G SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.778 p.S260G 1.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 98 0 0 79 12 13.1868 ZNF462 0 genome.wustl.edu 37 9 109688310 109688310 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 109688310 109688310 A T SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.2117 p.K706I 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 217 0 0 191 14 6.82927 TMEM245 0 genome.wustl.edu 37 9 111798579 111798579 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 111798579 111798579 G A SNP TMEM245 ENST00000374586 human ensembl 74_37 -1 known missense c.2306 p.T769I 0.986 pfam_UPF0118 pfam_UPF0118 - no_errors TMEM245 HGNC ENSG00000106771 58 0 0 42 13 23.6364 EPB41L4B 0 genome.wustl.edu 37 9 112004042 112004042 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 112004042 112004042 C G SNP EPB41L4B ENST00000374557 human ensembl 74_37 -1 known missense c.1457 p.G486A 1.000 NULL 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 EPB41L4B HGNC ENSG00000095203 158 0 0 145 14 8.80503 PALM2-AKAP2 0 genome.wustl.edu 37 9 112898869 112898869 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 112898869 112898869 A G SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known missense c.1045 p.S349G 0.060 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 97 0 0 101 7 6.48148 SUSD1 0 genome.wustl.edu 37 9 114919827 114919827 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 114919827 114919827 C A SNP SUSD1 ENST00000374264 human ensembl 74_37 -1 known missense c.170 p.C57F 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD1 HGNC ENSG00000106868 53 0 0 39 11 22 TNFSF15 0 genome.wustl.edu 37 9 117568130 117568130 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 117568130 117568130 G A SNP TNFSF15 ENST00000374045 human ensembl 74_37 -1 known missense c.163 p.L55F 0.894 NULL pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF - no_errors TNFSF15 HGNC ENSG00000181634 102 0 0 95 7 6.86275 ASTN2 0 genome.wustl.edu 37 9 119382702 119382702 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 119382702 119382702 C A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.3093 p.M1031I 1.000 smart_MACPF pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 243 1 0.409836 218 34 13.4921 CNTRL 0 genome.wustl.edu 37 9 123880811 123880811 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 123880811 123880811 C A SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known missense c.1643 p.P548Q 1.000 superfamily_Prefoldin pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 98 0 0 89 5 5.31915 CNTRL 0 genome.wustl.edu 37 9 123935659 123935659 + Missense_Mutation SNP C C G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 123935659 123935659 C G SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known missense c.6556 p.L2186V 0.974 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 94 0 0 88 7 7.36842 PRRC2B 0 genome.wustl.edu 37 9 134322566 134322566 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 134322566 134322566 G T SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.950 p.R317I 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 71 0 0 66 9 12 POMT1 0 genome.wustl.edu 37 9 134397514 134397514 + Nonsense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 134397514 134397514 G T SNP POMT1 ENST00000372228 human ensembl 74_37 +1 known nonsense c.1972 p.E658* 1.000 NULL pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT1 HGNC ENSG00000130714 202 0 0 169 9 5.05618 CCDC171 0 genome.wustl.edu 37 9 15578878 15578878 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 15578878 15578878 T C SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known missense c.209 p.L70P 0.981 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 84 0 0 54 17 23.9437 TAF1L 0 genome.wustl.edu 37 9 32631412 32631412 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 32631412 32631412 G A SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.4166 p.P1389L 1.000 pirsf_TAF1_animal,superfamily_Bromodomain 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 291 0 0 197 78 28.3636 RUSC2 0 genome.wustl.edu 37 9 35560741 35560741 + Silent SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 35560741 35560741 G A SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known silent c.4104 p.S1368 0.003 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 29 0 0 8 11 57.8947 FAM221B 0 genome.wustl.edu 37 9 35825636 35825636 + Nonsense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 35825636 35825636 C A SNP FAM221B ENST00000423537 human ensembl 74_37 -1 known nonsense c.523 p.E175* 0.649 NULL NULL - no_errors FAM221B HGNC ENSG00000204930 233 0 0 209 40 16.0643 TMEM8B 0 genome.wustl.edu 37 9 35853659 35853659 + Missense_Mutation SNP A A T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 35853659 35853659 A T SNP TMEM8B ENST00000377988 human ensembl 74_37 +1 known missense c.1241 p.H414L 1.000 pfam_DUF3522 pfam_DUF3522 - no_errors TMEM8B HGNC ENSG00000137103 135 0 0 132 19 12.5828 KIAA2026 0 genome.wustl.edu 37 9 5923017 5923017 + Silent SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 5923017 5923017 T G SNP KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel silent c.2979 p.S993 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 124 0 0 97 12 11.0092 RORB 0 genome.wustl.edu 37 9 77257500 77257500 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 77257500 77257500 G A SNP RORB ENST00000396204 human ensembl 74_37 +1 known missense c.439 p.E147K 1.000 NULL 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,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,pfscan_Znf_hrmn_rcpt - no_errors RORB HGNC ENSG00000198963 119 0 0 57 31 35.2273 PRUNE2 0 genome.wustl.edu 37 9 79323970 79323970 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 79323970 79323970 T C SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known missense c.2143 p.S715G 1.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 175 1 0.568182 132 23 14.8387 PTPRD 0 genome.wustl.edu 37 9 8471055 8471055 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 8471055 8471055 C A SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.3444 p.K1148N 1.000 NULL 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 126 0 0 105 21 16.6667 PTPRD 0 genome.wustl.edu 37 9 8471066 8471066 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 8471066 8471066 C T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.3433 p.V1145M 1.000 NULL 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 113 0 0 86 20 18.8679 FRMD3 0 genome.wustl.edu 37 9 85928585 85928585 + Missense_Mutation SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 85928585 85928585 T C SNP FRMD3 ENST00000304195 human ensembl 74_37 -1 known missense c.674 p.H225R 1.000 pfam_FERM_central,smart_Band_41_domain,pfscan_FERM_domain 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 FRMD3 HGNC ENSG00000172159 277 1 0.359712 180 70 28 DAPK1 0 genome.wustl.edu 37 9 90219938 90219938 + Silent SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 9 90219938 90219938 C T SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known silent c.132 p.I44 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,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_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 56 0 0 72 5 6.49351 MT-ND5 0 genome.wustl.edu 37 MT 13177 13177 + Missense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 MT 13177 13177 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.841 p.G281S NULL pfam_NADH_UbQ/plastoQ_OxRdtase,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 196 0 0 233 22 8.62745 MT-CO1 0 genome.wustl.edu 37 MT 6280 6280 + Nonsense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 MT 6280 6280 G A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known nonsense c.377 p.W126* NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 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 231 0 0 117 142 54.8263 COL4A6 0 genome.wustl.edu 37 X 107418963 107418963 + Silent SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 107418963 107418963 T G SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known silent c.2754 p.G918 0.006 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 49 0 0 36 9 20 KIAA1210 0 genome.wustl.edu 37 X 118284425 118284425 + Nonsense_Mutation SNP G G A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 118284425 118284425 G A SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known nonsense c.118 p.R40* 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 51 0 0 31 9 22.5 ZBTB33 0 genome.wustl.edu 37 X 119387538 119387538 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 119387538 119387538 A C SNP ZBTB33 ENST00000326624 human ensembl 74_37 +1 known missense c.268 p.I90L 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB33 HGNC ENSG00000177485 90 0 0 67 9 11.8421 TENM1 0 genome.wustl.edu 37 X 123785795 123785795 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 123785795 123785795 C T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.1548 p.M516I 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 83 0 0 86 10 10.4167 DCAF12L2 0 genome.wustl.edu 37 X 125299313 125299313 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 125299313 125299313 C T SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.595 p.A199T 0.857 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 71 0 0 60 4 6.25 DCAF12L2 0 genome.wustl.edu 37 X 125299513 125299513 + Missense_Mutation SNP C C T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 125299513 125299513 C T SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.395 p.R132H 0.014 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 115 0 0 97 7 6.73077 FRMPD4 0 genome.wustl.edu 37 X 12736295 12736295 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 12736295 12736295 G T SNP FRMPD4 ENST00000380682 human ensembl 74_37 +1 known missense c.3350 p.R1117I 1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom - no_errors FRMPD4 HGNC ENSG00000169933 166 0 0 105 37 26.0563 SLC25A14 0 genome.wustl.edu 37 X 129480611 129480611 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 129480611 129480611 T G SNP SLC25A14 ENST00000339231 human ensembl 74_37 +1 known missense c.254 p.F85C 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A14 HGNC ENSG00000102078 106 0 0 68 37 35.2381 CD40LG 0 genome.wustl.edu 37 X 135738551 135738551 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 135738551 135738551 G C SNP CD40LG ENST00000370629 human ensembl 74_37 +1 known missense c.383 p.S128T 0.959 superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom,prints_TNF_ligand_5 - no_errors CD40LG HGNC ENSG00000102245 64 0 0 100 6 5.66038 MAGEC1 0 genome.wustl.edu 37 X 140995043 140995043 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 140995043 140995043 G T SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.1853 p.G618V 0.634 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 305 0 0 459 147 24.2574 FANCB 0 genome.wustl.edu 37 X 14883088 14883088 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 14883088 14883088 A C SNP FANCB ENST00000324138 human ensembl 74_37 -1 known missense c.545 p.V182G 0.843 NULL NULL - no_errors FANCB HGNC ENSG00000181544 100 0 0 85 15 15 CNGA2 0 genome.wustl.edu 37 X 150911645 150911645 + Missense_Mutation SNP G G C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 150911645 150911645 G C SNP CNGA2 ENST00000329903 human ensembl 74_37 +1 known missense c.670 p.D224H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC ENSG00000183862 58 0 0 76 9 10.5882 FAM47C 0 genome.wustl.edu 37 X 37028319 37028319 + Missense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 37028319 37028319 G T SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.1836 p.E612D 0.000 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 104 0 0 64 16 20 ZNF630 0 genome.wustl.edu 37 X 47919290 47919290 + Missense_Mutation SNP A A G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 47919290 47919290 A G SNP ZNF630 ENST00000409324 human ensembl 74_37 -1 known missense c.541 p.C181R 0.988 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 ZNF630 HGNC ENSG00000221994 28 0 0 28 10 26.3158 GSPT2 0 genome.wustl.edu 37 X 51487185 51487185 + Nonsense_Mutation SNP G G T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 51487185 51487185 G T SNP GSPT2 ENST00000340438 human ensembl 74_37 +1 known nonsense c.463 p.E155* 1.000 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT2 HGNC ENSG00000189369 19 0 0 8 10 55.5556 ITIH6 0 genome.wustl.edu 37 X 54784081 54784081 + Missense_Mutation SNP C C A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 54784081 54784081 C A SNP ITIH6 ENST00000218436 human ensembl 74_37 -1 known missense c.2426 p.R809I 0.000 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 80 0 0 39 39 50 CYLC1 0 genome.wustl.edu 37 X 83128517 83128517 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 83128517 83128517 T C SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known silent c.801 p.N267 0.242 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 31 0 0 27 6 18.1818 CHM 0 genome.wustl.edu 37 X 85128195 85128195 + Silent SNP T T C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 85128195 85128195 T C SNP CHM ENST00000357749 human ensembl 74_37 -1 known silent c.1632 p.P544 0.698 pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHM HGNC ENSG00000188419 10 0 0 14 9 39.1304 DACH2 0 genome.wustl.edu 37 X 85769380 85769380 + Missense_Mutation SNP T T G TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 85769380 85769380 T G SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known missense c.626 p.L209R 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 19 0 0 10 11 52.381 TGIF2LX 0 genome.wustl.edu 37 X 89177299 89177299 + Missense_Mutation SNP A A C TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 X 89177299 89177299 A C SNP TGIF2LX ENST00000283891 human ensembl 74_37 +1 known missense c.215 p.H72P 1.000 pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2LX HGNC ENSG00000153779 91 0 0 74 22 22.9167 SMCP 0 genome.wustl.edu 37 1 152856912 152856935 + In_Frame_Del DEL CAAAACACAGTAAATGCTGCCCAG CAAAACACAGTAAATGCTGCCCAG - TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 CAAAACACAGTAAATGCTGCCCAG CAAAACACAGTAAATGCTGCCCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 152856912 152856935 CAAAACACAGTAAATGCTGCCCAG - DEL SMCP ENST00000368765 human ensembl 74_37 +1 known in_frame_del c.14_37 p.HSKCCPAK7in_frame_del 0.008:0.012:0.020:0.021:0.004:0.000:0.000:0.003:0.005:0.001:0.000:0.000:0.000:0.001:0.993:0.999:0.998:0.997:0.994:0.943:0.140:0.113:0.002:0.000 NULL NULL - no_errors SMCP HGNC ENSG00000163206 146 0 0 145 18 11.0429 CROCCP2 0 genome.wustl.edu 37 1 16945182 16945184 + RNA DEL AAT AAT - TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 AAT AAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 16945182 16945184 AAT - DEL CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.016:0.018:0.018 - - - no_errors CROCCP2 HGNC ENSG00000215908 9 0 0 7 3 30 SGIP1 0 genome.wustl.edu 37 1 67099768 67099769 + Frame_Shift_Ins INS - - A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 1 67099768 67099769 - A INS SGIP1 ENST00000237247 human ensembl 74_37 +1 known frame_shift_ins c.105_106 p.T38fs 1.000:0.997 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 33 0 0 17 13 43.3333 BTG4 0 genome.wustl.edu 37 11 111365986 111365987 + Frame_Shift_Ins INS - - T TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 111365986 111365987 - T INS BTG4 ENST00000356018 human ensembl 74_37 -1 known frame_shift_ins c.564_563 p.N189fs 0.065:0.239 NULL pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors BTG4 HGNC ENSG00000137707 115 0 0 110 21 16.0305 PLCB3 0 genome.wustl.edu 37 11 64024145 64024159 + In_Frame_Del DEL CCTGCCCCTGGAAGC CCTGCCCCTGGAAGC - TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 CCTGCCCCTGGAAGC CCTGCCCCTGGAAGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 64024145 64024159 CCTGCCCCTGGAAGC - DEL PLCB3 ENST00000279230 human ensembl 74_37 +1 known in_frame_del c.921_935 p.PLEAL309in_frame_del 0.999:1.000:1.000:1.000:1.000:1.000:0.933:1.000:1.000:0.995:1.000:1.000:1.000:1.000:1.000 pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC ENSG00000149782 149 0 0 105 21 16.6667 C11orf30 0 genome.wustl.edu 37 11 76248904 76248909 + In_Frame_Del DEL ATTCAG ATTCAG - TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 ATTCAG ATTCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 11 76248904 76248909 ATTCAG - DEL C11orf30 ENST00000334736 human ensembl 74_37 +1 known in_frame_del c.2425_2430 p.IQ809in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000 NULL pfam_ENT_N,pfscan_ENT_N - no_errors C11orf30 HGNC ENSG00000158636 98 0 0 100 9 8.25688 DHX37 0 genome.wustl.edu 37 12 125465270 125465272 + In_Frame_Del DEL CTC CTC - TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 125465270 125465272 CTC - DEL DHX37 ENST00000308736 human ensembl 74_37 -1 known in_frame_del c.504_502 p.E168in_frame_del 0.904:0.904:0.905 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 15 0 0 7 3 30 MED21 0 genome.wustl.edu 37 12 27181349 27181351 + In_Frame_Del DEL GAA GAA - TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 12 27181349 27181351 GAA - DEL MED21 ENST00000282892 human ensembl 74_37 +1 known in_frame_del c.390_392 p.K131in_frame_del 1.000:1.000:1.000 NULL pfam_Mediator_Med21 - no_errors MED21 HGNC ENSG00000152944 196 0 0 161 9 5.29412 PCDH9 0 genome.wustl.edu 37 13 67802315 67802316 + Frame_Shift_Ins INS - - A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 13 67802315 67802316 - A INS PCDH9 ENST00000377865 human ensembl 74_37 -1 known frame_shift_ins c.258_257 p.T87fs 1.000:1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 87 0 0 43 45 51.1364 CATSPER2 0 genome.wustl.edu 37 15 43927986 43927986 + Frame_Shift_Del DEL C C - TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 15 43927986 43927986 C - DEL CATSPER2 ENST00000321596 human ensembl 74_37 -1 known frame_shift_del c.1060 p.E354fs 0.990 NULL pfam_Ion_trans_dom - no_errors CATSPER2 HGNC ENSG00000166762 42 0 0 45 6 11.7647 KATNAL2 0 genome.wustl.edu 37 18 44580769 44580770 + Frame_Shift_Ins INS - - A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 18 44580769 44580770 - A INS KATNAL2 ENST00000245121 human ensembl 74_37 +1 known frame_shift_ins c.76_77 p.N27fs 1.000:1.000 NULL pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNAL2 HGNC ENSG00000167216 288 0 0 127 89 41.2037 PRKACA 0 genome.wustl.edu 37 19 14204506 14204520 + In_Frame_Del DEL CCCATTCTTGAGGTT CCCATTCTTGAGGTT - TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 CCCATTCTTGAGGTT CCCATTCTTGAGGTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 19 14204506 14204520 CCCATTCTTGAGGTT - DEL PRKACA ENST00000308677 human ensembl 74_37 -1 known in_frame_del c.864_850 p.NLKNG284in_frame_del 0.992:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACA HGNC ENSG00000072062 194 0 0 163 19 10.4396 TGM3 0 genome.wustl.edu 37 20 2312674 2312675 + Frame_Shift_Ins INS - - A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 20 2312674 2312675 - A INS TGM3 ENST00000381458 human ensembl 74_37 +1 known frame_shift_ins c.1360_1361 p.A456fs 0.044:0.060 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 165 0 0 209 11 5 EVC2 0 genome.wustl.edu 37 4 5564798 5564798 + Frame_Shift_Del DEL A A - TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 4 5564798 5564798 A - DEL EVC2 ENST00000344408 human ensembl 74_37 -1 known frame_shift_del c.3704 p.F1235fs 0.010 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 291 0 0 258 17 6.18182 TMEM161B 0 genome.wustl.edu 37 5 87502910 87502911 + Frame_Shift_Ins INS - - A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 5 87502910 87502911 - A INS TMEM161B ENST00000296595 human ensembl 74_37 -1 known frame_shift_ins c.534_533 p.F179fs 1.000:1.000 pfam_Transmembrane_161A/B pfam_Transmembrane_161A/B - no_errors TMEM161B HGNC ENSG00000164180 66 0 0 41 5 10.8696 POLD2 0 genome.wustl.edu 37 7 44154990 44154992 + In_Frame_Del DEL AAC AAC - TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 7 44154990 44154992 AAC - DEL POLD2 ENST00000406581 human ensembl 74_37 -1 known in_frame_del c.1153_1151 p.C384in_frame_del 1.000:0.970:1.000 pfam_DNA_pol_alpha/epsilon_bsu pfam_DNA_pol_alpha/epsilon_bsu - no_errors POLD2 HGNC ENSG00000106628 126 0 0 110 16 12.6984 ADAM2 0 genome.wustl.edu 37 8 39626980 39626981 + Frame_Shift_Ins INS - - A TCGA-IN-A6RL-01A-11D-A32N-08 TCGA-IN-A6RL-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb7ba5ce-6874-4acb-9731-12cf85ab765b aadb2ac1-02a9-472c-8af3-a33e690f0cd2 8 39626980 39626981 - A INS ADAM2 ENST00000265708 human ensembl 74_37 -1 known frame_shift_ins c.1143_1142 p.K382fs 0.187:0.213 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 62 0 0 59 12 16.9014