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 ABCC12 0 genome.wustl.edu 37 16 48139202 48139202 + Missense_Mutation SNP C C G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 16 48139202 48139202 C G SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known missense c.2521 p.A841P 0.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 37 0 0.00 14 2 12.50 ABCC8 0 genome.wustl.edu 37 11 17483280 17483280 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 11 17483280 17483280 C T SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known silent c.672 p.L224 1.000 prints_Sulphorea_rcpt pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 tier1 - - 44 0 0.00 34 16 32.00 ABCG2 0 genome.wustl.edu 37 4 89052313 89052313 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 4 89052313 89052313 G A SNP ABCG2 ENST00000237612 human ensembl 74_37 -1 known missense c.431 p.A144V 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG2 HGNC ENSG00000118777 45 0 0.00 26 2 6.90 ABCG5 0 genome.wustl.edu 37 2 44055245 44055245 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 2 44055245 44055245 C T SNP ABCG5 ENST00000260645 human ensembl 74_37 -1 known missense c.511 p.V171I 0.976 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG5 HGNC ENSG00000138075 36 0 0.00 45 3 6.25 ABHD16B 0 genome.wustl.edu 37 20 62493771 62493771 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 20 62493771 62493771 G A SNP ABHD16B ENST00000369916 human ensembl 74_37 +1 known missense c.878 p.R293H 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1 - no_errors ABHD16B HGNC ENSG00000183260 tier1 rs144773464 - 60 0 0.00 86 6 6.52 ACAN 0 genome.wustl.edu 37 15 89398111 89398111 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 15 89398111 89398111 C T SNP ACAN ENST00000439576 human ensembl 74_37 +1 known silent c.2295 p.G765 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 tier1 - - 91 0 0.00 49 48 49.48 ACOT9 0 genome.wustl.edu 37 X 23722811 23722811 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 X 23722811 23722811 C T SNP ACOT9 ENST00000379303 human ensembl 74_37 -1 known missense c.1258 p.E420K 1.000 NULL pfam_Thioestr_supf - no_errors ACOT9 HGNC ENSG00000123130 tier1 - - 49 0 0.00 1 23 95.83 ACSBG1 0 genome.wustl.edu 37 15 78473257 78473257 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 15 78473257 78473257 G A SNP ACSBG1 ENST00000258873 human ensembl 74_37 -1 known missense c.1093 p.R365W 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG1 HGNC ENSG00000103740 27 0 0.00 33 2 5.71 ADAM21P1 0 genome.wustl.edu 37 14 70714087 70714087 + RNA SNP T T G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 14 70714087 70714087 T G SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ADAM21P1 HGNC ENSG00000235812 54 0 0.00 45 6 11.76 ADCK1 0 genome.wustl.edu 37 14 78399575 78399575 + Silent SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 14 78399575 78399575 G A SNP ADCK1 ENST00000238561 human ensembl 74_37 +1 known silent c.1413 p.K471 0.998 NULL pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ENSG00000063761 tier1 - - 75 0 0.00 71 4 5.33 ADD3 0 genome.wustl.edu 37 10 111886193 111886193 + Missense_Mutation SNP T T A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 10 111886193 111886193 T A SNP ADD3 ENST00000356080 human ensembl 74_37 +1 known missense c.1540 p.Y514N 0.675 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 tier1 - - 79 0 0.00 72 4 5.26 ADRA1D 0 genome.wustl.edu 37 20 4228553 4228553 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 20 4228553 4228553 G A SNP ADRA1D ENST00000379453 human ensembl 74_37 -1 known missense c.1052 p.A351V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_ADRA1D_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,pfscan_GPCR_Rhodpsn_7TM - no_errors ADRA1D HGNC ENSG00000171873 46 0 0.00 69 4 5.48 AEBP1 0 genome.wustl.edu 37 7 44153807 44153807 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 7 44153807 44153807 G A SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known missense c.3424 p.A1142T 0.001 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 tier1 - - 31 0 0.00 39 4 9.30 AGO2 0 genome.wustl.edu 37 8 141566294 141566294 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 8 141566294 141566294 G A SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known missense c.1118 p.P373L 1.000 superfamily_PAZ_dom pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 tier1 - - 69 0 0.00 75 4 5.06 AHCTF1 0 genome.wustl.edu 37 1 247040319 247040319 + Missense_Mutation SNP T T C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 247040319 247040319 T C SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known missense c.2897 p.H966R 1.000 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 tier1 - - 47 0 0.00 43 25 36.23 ALDH16A1 0 genome.wustl.edu 37 19 49963104 49963104 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 19 49963104 49963104 G T SNP ALDH16A1 ENST00000293350 human ensembl 74_37 +1 known missense c.498 p.M166I 0.997 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH - no_errors ALDH16A1 HGNC ENSG00000161618 tier1 - - 80 0 0.00 7 50 87.72 ALG5 0 genome.wustl.edu 37 13 37563639 37563639 + Frame_Shift_Del DEL T T - TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 13 37563639 37563639 T - DEL ALG5 ENST00000239891 human ensembl 74_37 -1 known frame_shift_del c.429 p.G144fs 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2 - no_errors ALG5 HGNC ENSG00000120697 tier1 43 0 0.00 32 3 8.57 AMBRA1 0 genome.wustl.edu 37 11 46563567 46563567 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 11 46563567 46563567 G T SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known missense c.2000 p.S667Y 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 tier1 - - 56 0 0.00 43 4 8.51 AMOTL2 0 genome.wustl.edu 37 3 134079164 134079164 + Missense_Mutation SNP T T C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 3 134079164 134079164 T C SNP AMOTL2 ENST00000249883 human ensembl 74_37 -1 known missense c.1667 p.E556G 1.000 pfam_Angiomotin_C pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 tier1 - - 62 0 0.00 33 19 36.54 ANGPT4 0 genome.wustl.edu 37 20 853726 853726 + Silent SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 20 853726 853726 G A SNP ANGPT4 ENST00000381922 human ensembl 74_37 -1 known silent c.1389 p.N463 0.183 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 - - 35 0 0.00 36 17 32.08 ANKFY1 0 genome.wustl.edu 37 17 4098337 4098337 + Missense_Mutation SNP C C A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 17 4098337 4098337 C A SNP ANKFY1 ENST00000570535 human ensembl 74_37 -1 known missense c.1434 p.E478D 0.996 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 tier1 - - 36 0 0.00 4 14 77.78 ANKRD30B 0 genome.wustl.edu 37 18 14764088 14764088 + Silent SNP T T C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 18 14764088 14764088 T C SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known silent c.1224 p.N408 0.004 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 - - 36 0 0.00 27 12 30.77 ANKUB1 0 genome.wustl.edu 37 3 149488371 149488371 + Missense_Mutation SNP A A G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 3 149488371 149488371 A G SNP ANKUB1 ENST00000446160 human ensembl 74_37 -1 known missense c.542 p.L181S 1.000 superfamily_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ubiquitin_supergroup - no_errors ANKUB1 HGNC ENSG00000206199 tier1 - - 65 0 0.00 57 4 6.56 ARHGEF3 0 genome.wustl.edu 37 3 57041294 57041294 + Missense_Mutation SNP T T G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 3 57041294 57041294 T G SNP ARHGEF3 ENST00000477833 human ensembl 74_37 -1 known missense c.133 p.K45Q 0.181 NULL NULL - no_errors ARHGEF3 HGNC ENSG00000163947 tier1 - - 64 0 0.00 34 18 34.62 ARPP21 0 genome.wustl.edu 37 3 35750536 35750536 + Missense_Mutation SNP G G C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 3 35750536 35750536 G C SNP ARPP21 ENST00000187397 human ensembl 74_37 +1 known missense c.871 p.V291L 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 tier1 - - 30 0 0.00 19 10 34.48 ARRDC4 0 genome.wustl.edu 37 15 98504124 98504124 + Frame_Shift_Del DEL G G - TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 15 98504124 98504124 G - DEL ARRDC4 ENST00000268042 human ensembl 74_37 +1 known frame_shift_del c.33 p.G12fs 0.662 NULL pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC4 HGNC ENSG00000140450 tier1 29 0 0.00 24 4 14.29 ASXL3 0 genome.wustl.edu 37 18 31325003 31325003 + Missense_Mutation SNP C C A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 18 31325003 31325003 C A SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.5191 p.P1731T 0.552 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 31 0 0.00 35 21 37.50 ATG2A 0 genome.wustl.edu 37 11 64678099 64678099 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 11 64678099 64678099 G A SNP ATG2A ENST00000421419 human ensembl 74_37 -1 known missense c.1696 p.R566C 0.964 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 tier1 rs140600460 - 69 0 0.00 73 35 32.11 ATP2B3 0 genome.wustl.edu 37 X 152835148 152835148 + Splice_Site SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 X 152835148 152835148 G A SNP ATP2B3 ENST00000496610 human ensembl 74_37 +1 known splice_site c.NULL NULL 1.000 - - - no_errors ATP2B3 HGNC ENSG00000067842 tier1 - - 34 0 0.00 4 29 87.88 BARD1 0 genome.wustl.edu 37 2 215646099 215646099 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 2 215646099 215646099 G T SNP BARD1 ENST00000260947 human ensembl 74_37 -1 known missense c.499 p.P167T 0.720 NULL pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC ENSG00000138376 tier1 - - 79 0 0.00 79 5 5.95 BIRC6 0 genome.wustl.edu 37 2 32640482 32640482 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 2 32640482 32640482 C T SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.2123 p.S708F 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 tier1 - - 40 0 0.00 39 15 27.78 BPIFB2 0 genome.wustl.edu 37 20 31601666 31601666 + Missense_Mutation SNP C C A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 20 31601666 31601666 C A SNP BPIFB2 ENST00000170150 human ensembl 74_37 +1 known missense c.359 p.T120N 0.000 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB2 HGNC ENSG00000078898 tier1 - - 42 0 0.00 42 30 41.67 BTRC 0 genome.wustl.edu 37 10 103291061 103291061 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 10 103291061 103291061 C T SNP BTRC ENST00000370187 human ensembl 74_37 +1 known missense c.811 p.L271F 1.000 superfamily_F-box_dom pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors BTRC HGNC ENSG00000166167 tier1 - - 44 0 0.00 40 9 18.37 C12orf4 0 genome.wustl.edu 37 12 4639200 4639200 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 12 4639200 4639200 G A SNP C12orf4 ENST00000261250 human ensembl 74_37 -1 known missense c.341 p.A114V 0.996 pfam_DUF2362 pfam_DUF2362 - no_errors C12orf4 HGNC ENSG00000047621 tier1 - - 69 0 0.00 79 5 5.95 C1QTNF3 0 genome.wustl.edu 37 5 34020796 34020796 + Missense_Mutation SNP C C A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 5 34020796 34020796 C A SNP C1QTNF3 ENST00000382065 human ensembl 74_37 -1 known missense c.852 p.K284N 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF3 HGNC ENSG00000082196 tier1 - - 34 0 0.00 38 11 22.45 C1RL-AS1 0 genome.wustl.edu 37 12 7273293 7273293 + RNA SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 12 7273293 7273293 G A SNP C1RL-AS1 ENST00000382215 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors C1RL-AS1 HGNC ENSG00000205885 tier1 - - 36 0 0.00 28 12 30.00 C21orf58 0 genome.wustl.edu 37 21 47721985 47721986 + In_Frame_Ins INS - - TGG TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 21 47721985 47721986 - TGG INS C21orf58 ENST00000291691 human ensembl 74_37 -1 known in_frame_ins c.897_896 p.300in_frame_insH 0.000:0.001 NULL NULL - no_errors C21orf58 HGNC ENSG00000160298 tier1 12 0 0.00 11 12 52.17 C3orf27 0 genome.wustl.edu 37 3 128292319 128292320 + Frame_Shift_Del DEL TC TC - TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 3 128292319 128292320 TC - DEL C3orf27 ENST00000356020 human ensembl 74_37 -1 known frame_shift_del c.254_253 p.D85fs 0.075:0.076 NULL NULL - no_errors C3orf27 HGNC ENSG00000198685 tier1 35 0 0.00 27 3 10.00 CASP1 0 genome.wustl.edu 37 11 104904982 104904982 + Missense_Mutation SNP A A C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 11 104904982 104904982 A C SNP CASP1 ENST00000436863 human ensembl 74_37 -1 known missense c.227 p.I76S 0.011 pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP1 HGNC ENSG00000137752 tier1 - - 128 0 0.00 85 99 53.80 CCDC136 0 genome.wustl.edu 37 7 128454917 128454917 + Frame_Shift_Del DEL A A - TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 7 128454917 128454917 A - DEL CCDC136 ENST00000297788 human ensembl 74_37 +1 known frame_shift_del c.2989 p.K998fs 0.153 NULL NULL - no_errors CCDC136 HGNC ENSG00000128596 tier1 43 0 0.00 37 2 5.13 CCDC144NL 0 genome.wustl.edu 37 17 20768734 20768734 + Silent SNP T T C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 17 20768734 20768734 T C SNP CCDC144NL ENST00000327925 human ensembl 74_37 -1 known silent c.660 p.V220 0.008 NULL NULL - no_errors CCDC144NL HGNC ENSG00000205212 58 0 0.00 50 4 7.41 CCDC63 0 genome.wustl.edu 37 12 111296453 111296453 + Silent SNP A A G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 12 111296453 111296453 A G SNP CCDC63 ENST00000308208 human ensembl 74_37 +1 known silent c.243 p.K81 0.980 NULL NULL - no_errors CCDC63 HGNC ENSG00000173093 tier1 - - 41 0 0.00 5 37 88.10 CCL22 0 genome.wustl.edu 37 16 57394440 57394440 + Nonsense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 16 57394440 57394440 G A SNP CCL22 ENST00000219235 human ensembl 74_37 +1 known nonsense c.165 p.W55* 0.998 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_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 rs200292277 - 155 0 0.00 68 104 60.47 CCP110 0 genome.wustl.edu 37 16 19559292 19559292 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 16 19559292 19559292 C T SNP CCP110 ENST00000381396 human ensembl 74_37 +1 known silent c.2856 p.N952 1.000 NULL NULL - no_errors CCP110 HGNC ENSG00000103540 tier1 - - 62 0 0.00 49 4 7.55 CCR4 0 genome.wustl.edu 37 3 32994925 32994925 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 3 32994925 32994925 C T SNP CCR4 ENST00000330953 human ensembl 74_37 +1 known missense c.11 p.T4M 0.679 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt - no_errors CCR4 HGNC ENSG00000183813 tier1 rs200865776 - 49 0 0.00 43 4 8.51 CD226 0 genome.wustl.edu 37 18 67563060 67563060 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 18 67563060 67563060 C T SNP CD226 ENST00000280200 human ensembl 74_37 -1 known missense c.604 p.G202R 0.004 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CD226 HGNC ENSG00000150637 tier1 - - 53 0 0.00 52 43 45.26 CDC27 0 genome.wustl.edu 37 17 45234372 45234372 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 17 45234372 45234372 C T SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known missense c.749 p.G250E 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 99 0 0.00 81 7 7.95 CDH10 0 genome.wustl.edu 37 5 24487316 24487316 + RNA SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 5 24487316 24487316 C T SNP CDH10 ENST00000502921 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CDH10 HGNC ENSG00000040731 tier1 - - 121 0 0.00 107 25 18.80 CENPE 0 genome.wustl.edu 37 4 104097163 104097163 + Missense_Mutation SNP G G C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 4 104097163 104097163 G C SNP CENPE ENST00000265148 human ensembl 74_37 -1 known missense c.1433 p.T478R 0.048 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 tier1 - - 48 0 0.00 24 15 38.46 CEP250 0 genome.wustl.edu 37 20 34061830 34061830 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 20 34061830 34061830 G T SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.1524 p.E508D 0.995 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 tier1 - - 44 0 0.00 40 4 9.09 CHGB 0 genome.wustl.edu 37 20 5897656 5897656 + RNA SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 20 5897656 5897656 G A SNP CHGB ENST00000488832 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors CHGB HGNC ENSG00000089199 tier1 - - 16 0 0.00 16 6 27.27 CHRM2 0 genome.wustl.edu 37 7 136555859 136555859 + RNA SNP A A C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 7 136555859 136555859 A C SNP CHRM2 ENST00000480591 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CHRM2 HGNC ENSG00000181072 tier1 - - 76 0 0.00 23 30 56.60 CHRNB1 0 genome.wustl.edu 37 17 7350840 7350840 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 17 7350840 7350840 G T SNP CHRNB1 ENST00000306071 human ensembl 74_37 +1 known missense c.481 p.D161Y 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB1 HGNC ENSG00000170175 30 0 0.00 15 2 11.76 CLPS 0 genome.wustl.edu 37 6 35763554 35763554 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 6 35763554 35763554 G A SNP CLPS ENST00000259938 human ensembl 74_37 -1 known missense c.161 p.A54V 1.000 pfam_Colipase_N,smart_Colipase,prints_Colipase pfam_Colipase_C,pfam_Colipase_N,smart_Colipase,prints_Colipase - no_errors CLPS HGNC ENSG00000137392 tier1 - - 54 0 0.00 69 4 5.48 CNOT4 0 genome.wustl.edu 37 7 135082950 135082950 + Missense_Mutation SNP T T C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 7 135082950 135082950 T C SNP CNOT4 ENST00000541284 human ensembl 74_37 -1 known missense c.850 p.S284G 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom - no_errors CNOT4 HGNC ENSG00000080802 tier1 - - 108 0 0.00 72 4 5.26 COL10A1 0 genome.wustl.edu 37 6 116442374 116442374 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 6 116442374 116442374 C T SNP COL10A1 ENST00000243222 human ensembl 74_37 -1 known missense c.905 p.G302D 1.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL10A1 HGNC ENSG00000123500 23 0 0.00 31 2 6.06 COL3A1 0 genome.wustl.edu 37 2 189870168 189870168 + Silent SNP T T A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 2 189870168 189870168 T A SNP COL3A1 ENST00000304636 human ensembl 74_37 +1 known silent c.3024 p.G1008 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 COL3A1 HGNC ENSG00000168542 tier1 - - 87 0 0.00 94 11 10.48 CPT1A 0 genome.wustl.edu 37 11 68530168 68530168 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 11 68530168 68530168 C T SNP CPT1A ENST00000265641 human ensembl 74_37 -1 known missense c.1802 p.R601K 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1A HGNC ENSG00000110090 tier1 - - 38 0 0.00 46 4 8.00 CPZ 0 genome.wustl.edu 37 4 8605848 8605848 + Silent SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 4 8605848 8605848 G A SNP CPZ ENST00000360986 human ensembl 74_37 +1 known silent c.642 p.G214 0.685 pfam_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom - no_errors CPZ HGNC ENSG00000109625 tier1 - - 14 0 0.00 7 13 65.00 CREBBP 0 genome.wustl.edu 37 16 3824652 3824652 + Nonsense_Mutation SNP A A T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 16 3824652 3824652 A T SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known nonsense c.2201 p.L734* 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 tier1 - - 73 0 0.00 57 4 6.56 CROCC 0 genome.wustl.edu 37 1 17280821 17280821 + Missense_Mutation SNP G G C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 17280821 17280821 G C SNP CROCC ENST00000375541 human ensembl 74_37 +1 known missense c.3290 p.R1097P 1.000 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 49 0 0.00 49 5 9.26 CSMD1 0 genome.wustl.edu 37 8 2813198 2813198 + Frame_Shift_Del DEL G G - TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 8 2813198 2813198 G - DEL CSMD1 ENST00000520002 human ensembl 74_37 -1 known frame_shift_del c.9910 p.H3304fs 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 66 0 0.00 40 50 55.56 CSNK1A1L 0 genome.wustl.edu 37 13 37678734 37678734 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 13 37678734 37678734 C T SNP CSNK1A1L ENST00000379800 human ensembl 74_37 -1 known silent c.660 p.P220 0.957 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 CSNK1A1L HGNC ENSG00000180138 tier1 - - 67 0 0.00 34 75 68.81 CXorf30 0 genome.wustl.edu 37 X 36385232 36385232 + Missense_Mutation SNP A A G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 X 36385232 36385232 A G SNP CXorf30 ENST00000378657 human ensembl 74_37 +1 known missense c.1513 p.S505G 1.000 NULL NULL - no_errors CXorf30 HGNC ENSG00000205081 tier1 - - 33 0 0.00 5 20 80.00 CYLD 0 genome.wustl.edu 37 16 50827509 50827509 + Missense_Mutation SNP A A C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 16 50827509 50827509 A C SNP CYLD ENST00000311559 human ensembl 74_37 +1 known missense c.2403 p.E801D 0.838 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67 - no_errors CYLD HGNC ENSG00000083799 tier1 - - 77 0 0.00 65 24 26.97 CYP11B1 0 genome.wustl.edu 37 8 143958291 143958291 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 8 143958291 143958291 C T SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known silent c.606 p.L202 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 54 0 0.00 109 7 6.03 CYP2J2 0 genome.wustl.edu 37 1 60377901 60377901 + Missense_Mutation SNP C C G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 60377901 60377901 C G SNP CYP2J2 ENST00000371204 human ensembl 74_37 -1 known missense c.456 p.K152N 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2J-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like - no_errors CYP2J2 HGNC ENSG00000134716 tier1 - - 86 0 0.00 66 18 21.43 DDX60L 0 genome.wustl.edu 37 4 169342929 169342929 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 4 169342929 169342929 C T SNP DDX60L ENST00000260184 human ensembl 74_37 -1 known silent c.2376 p.V792 0.856 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 - no_errors DDX60L HGNC ENSG00000181381 tier1 - - 68 0 0.00 63 4 5.97 DLG5 0 genome.wustl.edu 37 10 79556267 79556267 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 10 79556267 79556267 G T SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known missense c.5250 p.D1750E 0.488 superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 tier1 - - 42 0 0.00 41 4 8.89 DNAH8 0 genome.wustl.edu 37 6 38704935 38704935 + Silent SNP A A G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 6 38704935 38704935 A G SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.204 p.A68 0.991 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 DNAH8 HGNC ENSG00000124721 35 0 0.00 45 3 6.25 DNAJC17 0 genome.wustl.edu 37 15 41071393 41071393 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 15 41071393 41071393 G T SNP DNAJC17 ENST00000560645 human ensembl 74_37 -1 known missense c.323 p.P108H 0.000 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,prints_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC17 HGNC ENSG00000104129 tier1 - - 74 0 0.00 54 4 6.90 DOCK10 0 genome.wustl.edu 37 2 225672674 225672674 + Missense_Mutation SNP T T C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 2 225672674 225672674 T C SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.3539 p.K1180R 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 tier1 - - 24 0 0.00 17 10 37.04 DPP9 0 genome.wustl.edu 37 19 4676632 4676632 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 19 4676632 4676632 C T SNP DPP9 ENST00000262960 human ensembl 74_37 -1 known missense c.2623 p.E875K 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP9 HGNC ENSG00000142002 tier1 - - 103 0 0.00 9 87 90.62 DST 0 genome.wustl.edu 37 6 56490035 56490035 + Silent SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 6 56490035 56490035 G T SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.4651 p.R1551 1.000 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 112 0 0.00 54 3 5.26 EBF4 0 genome.wustl.edu 37 20 2736210 2736210 + RNA SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 20 2736210 2736210 C T SNP EBF4 ENST00000477287 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors EBF4 HGNC ENSG00000088881 tier1 - - 14 0 0.00 14 23 62.16 EFCAB11 0 genome.wustl.edu 37 14 90420307 90420307 + Silent SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 14 90420307 90420307 G T SNP EFCAB11 ENST00000316738 human ensembl 74_37 -1 known silent c.114 p.L38 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB11 HGNC ENSG00000140025 tier1 - - 51 0 0.00 51 4 7.27 EIF4G3 0 genome.wustl.edu 37 1 21299503 21299504 + Frame_Shift_Del DEL TC TC - TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 21299503 21299504 TC - DEL EIF4G3 ENST00000374937 human ensembl 74_37 -1 known frame_shift_del c.436_435 p.K147fs 1.000:1.000 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 108 0 0.00 59 31 34.44 EIF4G3 0 genome.wustl.edu 37 1 21299504 21299504 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 21299504 21299504 C T SNP EIF4G3 ENST00000374937 human ensembl 74_37 -1 known silent c.435 p.E145 1.000 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 107 0 0.00 56 5 8.20 EIF5B 0 genome.wustl.edu 37 2 99977778 99977778 + Silent SNP T T C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 2 99977778 99977778 T C SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known silent c.414 p.D138 1.000 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 - - 14 0 0.00 21 9 30.00 ENSG00000179755 0 genome.wustl.edu 37 16 34257063 34257063 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 16 34257063 34257063 G A SNP ENSG00000179755 ENST00000319817 human ensembl 74_37 +1 known missense c.307 p.A103T 0.066 NULL NULL - no_errors CTD-2144E22.5 Clone_based_vega_gene ENSG00000179755 tier1 - - 11 0 0.00 5 6 54.55 ENSG00000228302 0 genome.wustl.edu 37 10 12288997 12288997 + RNA SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 10 12288997 12288997 C T SNP ENSG00000228302 ENST00000421657 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-186N15.3 Clone_based_vega_gene ENSG00000228302 tier1 rs111957661 - 22 0 0.00 18 3 14.29 ENSG00000228302 0 genome.wustl.edu 37 10 12289002 12289002 + RNA SNP T T G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 10 12289002 12289002 T G SNP ENSG00000228302 ENST00000421657 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-186N15.3 Clone_based_vega_gene ENSG00000228302 tier1 rs113024795 - 23 0 0.00 18 3 14.29 ENSG00000234978 0 genome.wustl.edu 37 1 142803274 142803274 + RNA DEL A A - TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 142803274 142803274 A 0 DEL ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 109 0 0.00 68 7 9.33 ENSG00000234978 0 genome.wustl.edu 37 1 142803279 142803280 + RNA DEL AA AA - TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 142803279 142803280 AA 0 DEL ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.006:0.005 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 114 0 0.00 71 7 8.97 ENSG00000252798 0 genome.wustl.edu 37 16 21598984 21598985 + RNA INS - - T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 16 21598984 21598985 - T INS ENSG00000252798 ENST00000516989 human ensembl 74_37 +1 novel rna NULL NULL 0.242:0.246 - - - no_errors SCARNA6 RFAM ENSG00000252798 tier1 10 0 0.00 11 3 21.43 ENSG00000264098 0 genome.wustl.edu 37 17 26729384 26729384 + RNA DEL G G - TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 17 26729384 26729384 G - DEL ENSG00000264098 ENST00000583956 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2350C19.1 Clone_based_vega_gene ENSG00000264098 tier1 32 0 0.00 23 2 8.00 ENSG00000267848 0 genome.wustl.edu 37 20 62585044 62585044 + Frame_Shift_Del DEL A A - TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 20 62585044 62585044 A - DEL ENSG00000267848 ENST00000595604 human ensembl 74_37 +1 known frame_shift_del c.38 p.K16fs 0.024 NULL NULL - no_errors AL118506.1 Clone_based_ensembl_gene ENSG00000267848 tier1 20 0 0.00 30 3 9.09 ENSG00000272231 0 genome.wustl.edu 37 12 74293679 74293680 + RNA DEL TA TA - TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 12 74293679 74293680 TA 0 DEL ENSG00000272231 ENST00000606199 human ensembl 74_37 +1 novel rna NULL NULL 0.003:0.000 - - - no_errors AC136188.1 Clone_based_ensembl_gene ENSG00000272231 11 0 0.00 13 6 31.58 ENTHD2 0 genome.wustl.edu 37 17 79205688 79205688 + Silent SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 17 79205688 79205688 G A SNP ENTHD2 ENST00000300714 human ensembl 74_37 -1 known silent c.660 p.S220 1.000 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS - no_errors ENTHD2 HGNC ENSG00000167302 tier1 - - 67 0 0.00 60 4 6.25 ERVFRD-1 0 genome.wustl.edu 37 6 11104020 11104020 + Silent SNP G G C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 6 11104020 11104020 G C SNP ERVFRD-1 ENST00000472091 human ensembl 74_37 -1 known silent c.1524 p.T508 0.344 pfam_TLV/ENV_coat_polyprotein pfam_TLV/ENV_coat_polyprotein - no_errors ERVFRD-1 HGNC ENSG00000244476 tier1 - - 49 0 0.00 86 21 19.44 ESPL1 0 genome.wustl.edu 37 12 53666581 53666581 + Silent SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 12 53666581 53666581 G A SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known silent c.1446 p.P482 0.902 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 51 0 0.00 61 4 6.15 ESYT1 0 genome.wustl.edu 37 12 56524830 56524830 + Missense_Mutation SNP C C A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 12 56524830 56524830 C A SNP ESYT1 ENST00000267113 human ensembl 74_37 +1 known missense c.574 p.R192S 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT1 HGNC ENSG00000139641 tier1 - - 57 0 0.00 38 49 55.06 ESYT3 0 genome.wustl.edu 37 3 138191618 138191618 + Silent SNP C C A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 3 138191618 138191618 C A SNP ESYT3 ENST00000389567 human ensembl 74_37 +1 known silent c.2154 p.P718 0.003 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT3 HGNC ENSG00000158220 tier1 - - 60 0 0.00 28 20 41.67 ETAA1 0 genome.wustl.edu 37 2 67631408 67631408 + Missense_Mutation SNP C C G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 2 67631408 67631408 C G SNP ETAA1 ENST00000272342 human ensembl 74_37 +1 known missense c.1594 p.Q532E 0.026 NULL NULL - no_errors ETAA1 HGNC ENSG00000143971 tier1 - - 27 0 0.00 21 17 44.74 EYS 0 genome.wustl.edu 37 6 66005740 66005741 + RNA INS - - AA TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 6 66005740 66005741 - AA INS EYS ENST00000370615 human ensembl 74_37 -1 putative rna NULL NULL 0.032:0.122 - - - no_errors EYS HGNC ENSG00000188107 tier1 31 0 0.00 32 2 5.88 F2 0 genome.wustl.edu 37 11 46760903 46760904 + Frame_Shift_Del DEL AT AT - TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 11 46760903 46760904 AT - DEL F2 ENST00000311907 human ensembl 74_37 +1 known frame_shift_del c.1814_1815 p.H605fs 1.000:0.856 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_Peptidase_S1,prints_Prothrombin/thrombin pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain - no_errors F2 HGNC ENSG00000180210 tier1 42 0 0.00 14 10 41.67 FAM45B 0 genome.wustl.edu 37 X 129629016 129629016 + RNA SNP A A G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 X 129629016 129629016 A G SNP FAM45B ENST00000592932 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors FAM45B HGNC ENSG00000221930 tier1 - - 10 0 0.00 2 9 81.82 FAM73B 0 genome.wustl.edu 37 9 131825458 131825458 + RNA SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 9 131825458 131825458 C T SNP FAM73B ENST00000494608 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors FAM73B HGNC ENSG00000148343 tier1 - - 48 0 0.00 37 19 33.93 FANCD2 0 genome.wustl.edu 37 3 10114581 10114581 + Frame_Shift_Del DEL G G - TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 3 10114581 10114581 G - DEL FANCD2 ENST00000287647 human ensembl 74_37 +1 known frame_shift_del c.2521 p.G841fs 1.000 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 tier1 77 0 0.00 37 2 5.13 FCHO1 0 genome.wustl.edu 37 19 17898537 17898537 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 19 17898537 17898537 C T SNP FCHO1 ENST00000252771 human ensembl 74_37 +1 known silent c.2529 p.S843 1.000 superfamily_Clathrin_mu_C pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,superfamily_Clathrin_mu_C,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO1 HGNC ENSG00000130475 101 0 0.00 84 5 5.62 FCN2 0 genome.wustl.edu 37 9 137772729 137772729 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 9 137772729 137772729 G A SNP FCN2 ENST00000291744 human ensembl 74_37 +1 known missense c.62 p.G21D 0.001 NULL pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN2 HGNC ENSG00000160339 tier1 - - 57 0 0.00 46 4 8.00 FEN1 0 genome.wustl.edu 37 11 61563118 61563118 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 11 61563118 61563118 C T SNP FEN1 ENST00000305885 human ensembl 74_37 +1 known silent c.285 p.G95 0.000 pfam_XPG_DNA_repair_N,smart_XPG_DNA_repair_N,prints_XPG/Rad2 pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors FEN1 HGNC ENSG00000168496 21 0 0.00 32 2 5.88 FLG 0 genome.wustl.edu 37 1 152285666 152285666 + Missense_Mutation SNP T T G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 152285666 152285666 T G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.1696 p.S566R 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 186 0 0.00 175 59 25.21 FLJ22184 0 genome.wustl.edu 37 19 7937784 7937784 + Frame_Shift_Del DEL T T - TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 19 7937784 7937784 T - DEL FLJ22184 ENST00000539422 human ensembl 74_37 -1 known frame_shift_del c.438 p.A147fs 0.938 NULL NULL - no_errors CTD-3193O13.9 Clone_based_vega_gene ENSG00000183248 tier1 46 0 0.00 28 2 6.67 FMN2 0 genome.wustl.edu 37 1 240255585 240255585 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 240255585 240255585 G A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.176 p.G59E 0.941 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 34 0 0.00 69 5 6.76 FUT9 0 genome.wustl.edu 37 6 96651269 96651269 + Missense_Mutation SNP A A T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 6 96651269 96651269 A T SNP FUT9 ENST00000302103 human ensembl 74_37 +1 known missense c.238 p.T80S 0.997 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT9 HGNC ENSG00000172461 tier1 - - 50 0 0.00 33 18 35.29 GAMT 0 genome.wustl.edu 37 19 1399821 1399821 + Silent SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 19 1399821 1399821 G T SNP GAMT ENST00000447102 human ensembl 74_37 -1 known silent c.298 p.R100 0.998 NULL NULL - no_errors GAMT HGNC ENSG00000130005 48 0 0.00 40 3 6.98 GK2 0 genome.wustl.edu 37 4 80329142 80329142 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 4 80329142 80329142 C T SNP GK2 ENST00000358842 human ensembl 74_37 -1 known silent c.213 p.T71 0.808 pfam_Carb_kinase_FGGY_N,tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK2 HGNC ENSG00000196475 tier1 - - 64 0 0.00 29 18 38.30 GLB1L3 0 genome.wustl.edu 37 11 134179592 134179592 + Missense_Mutation SNP C C G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 11 134179592 134179592 C G SNP GLB1L3 ENST00000431683 human ensembl 74_37 +1 known missense c.1034 p.T345S 1.000 pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L3 HGNC ENSG00000166105 tier1 - - 60 0 0.00 31 53 63.10 GLE1 0 genome.wustl.edu 37 9 131295828 131295828 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 9 131295828 131295828 G A SNP GLE1 ENST00000309971 human ensembl 74_37 +1 known missense c.1349 p.S450N 0.997 pfam_GLE1 pfam_GLE1 - no_errors GLE1 HGNC ENSG00000119392 43 0 0.00 33 2 5.56 GPATCH8 0 genome.wustl.edu 37 17 42483347 42483347 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 17 42483347 42483347 G T SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.565 p.Q189K 1.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 39 0 0.00 38 2 5.00 GPR179 0 genome.wustl.edu 37 17 36484880 36484880 + Silent SNP T T C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 17 36484880 36484880 T C SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known silent c.4572 p.A1524 0.000 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 tier1 - - 57 0 0.00 48 4 7.69 GPR56 0 genome.wustl.edu 37 16 57691341 57691341 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 16 57691341 57691341 C T SNP GPR56 ENST00000379696 human ensembl 74_37 +1 known silent c.1224 p.Y408 1.000 pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR56 HGNC ENSG00000205336 tier1 - - 62 0 0.00 38 28 42.42 GPSM2 0 genome.wustl.edu 37 1 109444432 109444432 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 109444432 109444432 G A SNP GPSM2 ENST00000264126 human ensembl 74_37 +1 known missense c.818 p.R273Q 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_GoLoco_motif,pfam_TPR_1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM2 HGNC ENSG00000121957 36 0 0.00 33 2 5.71 GPT2 0 genome.wustl.edu 37 16 46956203 46956203 + Frame_Shift_Del DEL A A - TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 16 46956203 46956203 A - DEL GPT2 ENST00000340124 human ensembl 74_37 +1 known frame_shift_del c.1087 p.I363fs 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors GPT2 HGNC ENSG00000166123 tier1 50 0 0.00 51 25 32.89 GRK4 0 genome.wustl.edu 37 4 3030968 3030968 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 4 3030968 3030968 C T SNP GRK4 ENST00000398052 human ensembl 74_37 +1 known silent c.1101 p.P367 0.995 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_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK4 HGNC ENSG00000125388 tier1 rs147908042 - 88 0 0.00 11 64 85.33 GSAP 0 genome.wustl.edu 37 7 77011915 77011915 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 7 77011915 77011915 G T SNP GSAP ENST00000257626 human ensembl 74_37 -1 known missense c.502 p.L168M 1.000 NULL NULL - no_errors GSAP HGNC ENSG00000186088 54 0 0.00 67 4 5.63 HAS1 0 genome.wustl.edu 37 19 52222714 52222714 + Silent SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 19 52222714 52222714 G A SNP HAS1 ENST00000601714 human ensembl 74_37 -1 known silent c.468 p.R156 0.993 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 71 0 0.00 55 4 6.78 HEATR5A 0 genome.wustl.edu 37 14 31844022 31844022 + Missense_Mutation SNP C C A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 14 31844022 31844022 C A SNP HEATR5A ENST00000389961 human ensembl 74_37 -1 known missense c.1843 p.A615S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 62 0 0.00 31 2 6.06 HEATR6 0 genome.wustl.edu 37 17 58145047 58145047 + Missense_Mutation SNP C C A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 17 58145047 58145047 C A SNP HEATR6 ENST00000184956 human ensembl 74_37 -1 known missense c.986 p.G329V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR6 HGNC ENSG00000068097 34 0 0.00 41 3 6.82 HIBCH 0 genome.wustl.edu 37 2 191077701 191077701 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 2 191077701 191077701 C T SNP HIBCH ENST00000359678 human ensembl 74_37 -1 known missense c.992 p.R331Q 0.889 NULL pfam_Crotonase_core_superfam - no_errors HIBCH HGNC ENSG00000198130 tier1 - - 31 0 0.00 14 21 60.00 HIF1A 0 genome.wustl.edu 37 14 62193491 62193491 + Silent SNP A A G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 14 62193491 62193491 A G SNP HIF1A ENST00000539097 human ensembl 74_37 +1 known silent c.597 p.L199 0.971 superfamily_PAS pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors HIF1A HGNC ENSG00000100644 43 0 0.00 31 2 6.06 HIST1H4E 0 genome.wustl.edu 37 6 26205150 26205150 + Missense_Mutation SNP G G C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 6 26205150 26205150 G C SNP HIST1H4E ENST00000360441 human ensembl 74_37 +1 known missense c.278 p.R93T 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4E HGNC ENSG00000198518 tier1 - - 69 0 0.00 73 20 21.51 HRG 0 genome.wustl.edu 37 3 186387733 186387733 + Missense_Mutation SNP G G C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 3 186387733 186387733 G C SNP HRG ENST00000232003 human ensembl 74_37 +1 known missense c.307 p.G103R 1.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors HRG HGNC ENSG00000113905 tier1 - - 52 0 0.00 21 16 43.24 HTRA3 0 genome.wustl.edu 37 4 8271836 8271836 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 4 8271836 8271836 C T SNP HTRA3 ENST00000307358 human ensembl 74_37 +1 known silent c.141 p.L47 1.000 smart_IGFBP-like pfam_Peptidase_S1,pfam_Kazal_dom,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA3 HGNC ENSG00000170801 tier1 - - 8 0 0.00 0 5 100.00 ICA1 0 genome.wustl.edu 37 7 8196568 8196585 + In_Frame_Del DEL AAAAAAAAAAAAAAAAAG AAAAAAAAAAAAAAAAAG - TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 AAAAAAAAAAAAAAAAAG AAAAAAAAAAAAAAAAAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 7 8196568 8196585 AAAAAAAAAAAAAAAAAG 0 DEL ICA1 ENST00000407906 human ensembl 74_37 -1 putative in_frame_del c.982_965 p.SFFFFF322in_frame_del 0.013:0.018:0.022:0.026:0.029:0.033:0.021:0.016:0.011:0.005:0.002:0.000:0.000:0.000:0.001:0.001:0.001:0.001 NULL pfam_AH_dom,pfscan_AH_dom - no_errors ICA1 HGNC ENSG00000003147 34 0 0.00 31 9 22.50 ICAM5 0 genome.wustl.edu 37 19 10404937 10404937 + Missense_Mutation SNP T T C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 19 10404937 10404937 T C SNP ICAM5 ENST00000221980 human ensembl 74_37 +1 known missense c.1933 p.C645R 0.997 smart_Ig_sub pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM5 HGNC ENSG00000105376 tier1 - - 66 0 0.00 59 4 6.35 IFNA2 0 genome.wustl.edu 37 9 21384796 21384796 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 9 21384796 21384796 G A SNP IFNA2 ENST00000380206 human ensembl 74_37 -1 known missense c.533 p.T178I 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA2 HGNC ENSG00000188379 115 0 0.00 55 4 6.67 IFT88 0 genome.wustl.edu 37 13 21157104 21157104 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 13 21157104 21157104 G T SNP IFT88 ENST00000319980 human ensembl 74_37 +1 known missense c.126 p.E42D 0.994 NULL pfam_TPR_1,pfam_TPR_2,pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFT88 HGNC ENSG00000032742 tier1 - - 50 0 0.00 56 4 6.67 IGHV1OR21-1 0 genome.wustl.edu 37 21 10862950 10862950 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 21 10862950 10862950 G T SNP IGHV1OR21-1 ENST00000559480 human ensembl 74_37 +1 known missense c.246 p.K82N 0.003 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGHV1OR21-1 HGNC ENSG00000169861 tier1 - - 235 0 0.00 111 120 51.95 IGSF3 0 genome.wustl.edu 37 1 117122285 117122286 + In_Frame_Ins INS - - TCC TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 117122285 117122286 - TCC INS IGSF3 ENST00000318837 human ensembl 74_37 -1 known in_frame_ins c.3123_3122 p.1041in_frame_insE 0.040:0.030 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 tier1 18 0 0.00 19 9 32.14 IL17RE 0 genome.wustl.edu 37 3 9948460 9948460 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 3 9948460 9948460 C T SNP IL17RE ENST00000421412 human ensembl 74_37 +1 known missense c.536 p.S179F 0.001 NULL pfam_SEFIR - no_errors IL17RE HGNC ENSG00000163701 47 0 0.00 38 2 5.00 IPP 0 genome.wustl.edu 37 1 46165855 46165855 + Nonsense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 46165855 46165855 C T SNP IPP ENST00000396478 human ensembl 74_37 -1 known nonsense c.1538 p.W513* 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors IPP HGNC ENSG00000197429 tier1 - - 29 0 0.00 13 18 58.06 ITGA8 0 genome.wustl.edu 37 10 15760810 15760810 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 10 15760810 15760810 C T SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known missense c.298 p.A100T 0.051 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 tier1 - - 46 0 0.00 50 19 27.54 JAKMIP2 0 genome.wustl.edu 37 5 147012329 147012329 + Missense_Mutation SNP C C G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 5 147012329 147012329 C G SNP JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known missense c.1690 p.E564Q 1.000 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 tier1 - - 83 0 0.00 48 28 36.84 KATNA1 0 genome.wustl.edu 37 6 149919207 149919207 + RNA SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 6 149919207 149919207 G T SNP KATNA1 ENST00000481905 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KATNA1 HGNC ENSG00000186625 tier1 - - 22 0 0.00 9 16 64.00 KIAA1211 0 genome.wustl.edu 37 4 57180699 57180699 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 4 57180699 57180699 G A SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known missense c.1031 p.R344Q 0.015 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 tier1 - - 30 0 0.00 15 11 42.31 KIAA1244 0 genome.wustl.edu 37 6 138657565 138657565 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 6 138657565 138657565 G A SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.6476 p.R2159H 1.000 NULL pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 tier1 rs111914596 - 50 0 0.00 23 27 54.00 KIAA1841 0 genome.wustl.edu 37 2 61315638 61315639 + RNA INS - - TA TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 2 61315638 61315639 - TA INS KIAA1841 ENST00000482513 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors KIAA1841 HGNC ENSG00000162929 tier1 29 0 0.00 37 5 11.90 KLB 0 genome.wustl.edu 37 4 39439551 39439551 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 4 39439551 39439551 C T SNP KLB ENST00000257408 human ensembl 74_37 +1 known missense c.1541 p.T514M 0.988 NULL pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 63 0 0.00 56 3 5.08 KLHDC3 0 genome.wustl.edu 37 6 42986163 42986163 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 6 42986163 42986163 G A SNP KLHDC3 ENST00000326974 human ensembl 74_37 +1 known missense c.602 p.R201H 1.000 pfam_Kelch_2,pfam_Kelch_1 pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC3 HGNC ENSG00000124702 39 0 0.00 50 3 5.56 KPNA1 0 genome.wustl.edu 37 3 122152584 122152584 + Missense_Mutation SNP C C A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 3 122152584 122152584 C A SNP KPNA1 ENST00000344337 human ensembl 74_37 -1 known missense c.1174 p.A392S 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA1 HGNC ENSG00000114030 tier1 - - 87 0 0.00 32 19 37.25 KRT23 0 genome.wustl.edu 37 17 39084536 39084536 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 17 39084536 39084536 C T SNP KRT23 ENST00000209718 human ensembl 74_37 -1 known missense c.875 p.R292H 0.990 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT23 HGNC ENSG00000108244 57 0 0.00 55 3 5.17 LARS2 0 genome.wustl.edu 37 3 45530292 45530292 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 3 45530292 45530292 C T SNP LARS2 ENST00000265537 human ensembl 74_37 +1 known silent c.1227 p.S409 0.015 superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-ligase_bac/mito pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito - no_errors LARS2 HGNC ENSG00000011376 tier1 - - 81 0 0.00 48 4 7.69 LONP2 0 genome.wustl.edu 37 16 48337147 48337147 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 16 48337147 48337147 G A SNP LONP2 ENST00000285737 human ensembl 74_37 +1 known missense c.1726 p.A576T 1.000 tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP2 HGNC ENSG00000102910 tier1 - - 129 0 0.00 103 48 31.79 LPA 0 genome.wustl.edu 37 6 160953585 160953585 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 6 160953585 160953585 G A SNP LPA ENST00000316300 human ensembl 74_37 -1 known missense c.5939 p.A1980V 0.023 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 tier1 - - 54 0 0.00 69 5 6.76 LRRN1 0 genome.wustl.edu 37 3 3886722 3886722 + Nonsense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 3 3886722 3886722 G T SNP LRRN1 ENST00000319331 human ensembl 74_37 +1 known nonsense c.397 p.E133* 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN1 HGNC ENSG00000175928 tier1 - - 48 0 0.00 32 4 11.11 LYN 0 genome.wustl.edu 37 8 56879419 56879419 + Silent SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 8 56879419 56879419 G A SNP LYN ENST00000519728 human ensembl 74_37 +1 known silent c.936 p.E312 0.998 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LYN HGNC ENSG00000254087 tier1 - - 34 0 0.00 57 8 12.31 MAGEH1 0 genome.wustl.edu 37 X 55479335 55479335 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 X 55479335 55479335 C T SNP MAGEH1 ENST00000342972 human ensembl 74_37 +1 known silent c.528 p.V176 0.988 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEH1 HGNC ENSG00000187601 tier1 - - 25 0 0.00 25 18 41.86 MAP10 0 genome.wustl.edu 37 1 232942210 232942211 + Frame_Shift_Ins INS - - A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 232942210 232942211 - A INS MAP10 ENST00000418460 human ensembl 74_37 +1 known frame_shift_ins c.1441_1442 p.R484fs 0.013:0.010 NULL NULL - no_errors MAP10 HGNC ENSG00000212916 tier1 44 0 0.00 28 2 6.67 MAP1S 0 genome.wustl.edu 37 19 17838519 17838519 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 19 17838519 17838519 G T SNP MAP1S ENST00000324096 human ensembl 74_37 +1 known missense c.2326 p.G776W 0.004 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 9 0 0.00 3 3 50.00 MAP3K19 0 genome.wustl.edu 37 2 135756433 135756433 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 2 135756433 135756433 C T SNP MAP3K19 ENST00000375845 human ensembl 74_37 -1 known missense c.449 p.R150K 0.006 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 MAP3K19 HGNC ENSG00000176601 66 0 0.00 68 4 5.56 MARK3 0 genome.wustl.edu 37 14 103931996 103931996 + Missense_Mutation SNP A A T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 14 103931996 103931996 A T SNP MARK3 ENST00000429436 human ensembl 74_37 +1 known missense c.643 p.S215C 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_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK3 HGNC ENSG00000075413 tier1 - - 53 0 0.00 43 34 44.16 MARS 0 genome.wustl.edu 37 12 57905572 57905572 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 12 57905572 57905572 G T SNP MARS ENST00000262027 human ensembl 74_37 +1 known missense c.1460 p.R487L 1.000 pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS HGNC ENSG00000166986 tier1 - - 57 0 0.00 63 4 5.97 MCM9 0 genome.wustl.edu 37 6 119137014 119137014 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 6 119137014 119137014 G A SNP MCM9 ENST00000316316 human ensembl 74_37 -1 known missense c.2405 p.S802L 0.154 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,prints_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase - no_errors MCM9 HGNC ENSG00000111877 tier1 - - 83 0 0.00 95 24 20.17 MEF2C 0 genome.wustl.edu 37 5 88018583 88018583 + Missense_Mutation SNP A A T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 5 88018583 88018583 A T SNP MEF2C ENST00000506554 human ensembl 74_37 -1 putative missense c.1187 p.L396Q 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox - no_errors MEF2C HGNC ENSG00000081189 tier1 - - 47 0 0.00 31 21 40.38 MEGF10 0 genome.wustl.edu 37 5 126738367 126738367 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 5 126738367 126738367 G T SNP MEGF10 ENST00000274473 human ensembl 74_37 +1 known missense c.910 p.G304W 1.000 pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 tier1 - - 76 0 0.00 49 4 7.55 MIPOL1 0 genome.wustl.edu 37 14 37992724 37992724 + Missense_Mutation SNP G G C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 14 37992724 37992724 G C SNP MIPOL1 ENST00000545536 human ensembl 74_37 +1 known missense c.1216 p.E406Q 0.000 NULL NULL - no_errors MIPOL1 HGNC ENSG00000151338 tier1 - - 68 0 0.00 52 38 42.22 MIR137HG 0 genome.wustl.edu 37 1 98510870 98510870 + RNA SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 98510870 98510870 G A SNP MIR137HG ENST00000413670 human ensembl 74_37 -1 known rna NULL NULL 0.764 - - - no_errors MIR137HG HGNC ENSG00000225206 tier1 - - 27 0 0.00 11 31 73.81 MIR708 0 genome.wustl.edu 37 11 79113144 79113144 + RNA SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 11 79113144 79113144 G A SNP MIR708 ENST00000390708 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR708 HGNC ENSG00000211997 tier1 - - 58 0 0.00 74 18 19.57 MME 0 genome.wustl.edu 37 3 154802112 154802112 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 3 154802112 154802112 C T SNP MME ENST00000360490 human ensembl 74_37 +1 known silent c.156 p.Y52 0.761 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MME HGNC ENSG00000196549 29 0 0.00 23 2 8.00 MMP14 0 genome.wustl.edu 37 14 23306080 23306080 + Silent SNP C C A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 14 23306080 23306080 C A SNP MMP14 ENST00000311852 human ensembl 74_37 +1 known silent c.54 p.L18 1.000 pirsf_Pept_M10A_Metazoans pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP14 HGNC ENSG00000157227 tier1 - - 235 0 0.00 80 82 50.62 MSH3 0 genome.wustl.edu 37 5 79952246 79952246 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 5 79952246 79952246 G T SNP MSH3 ENST00000265081 human ensembl 74_37 +1 known missense c.254 p.R85I 0.002 NULL pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 tier1 - - 41 0 0.00 32 4 11.11 MT-RNR2 0 genome.wustl.edu 37 MT 2141 2142 + RNA INS - - AG TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 MT 2141 2142 0 AG INS MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 164 0 0.00 165 15 8.33 MTMR3 0 genome.wustl.edu 37 22 30374971 30374971 + Missense_Mutation SNP G G C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 22 30374971 30374971 G C SNP MTMR3 ENST00000401950 human ensembl 74_37 +1 known missense c.140 p.R47P 1.000 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 tier1 - - 73 0 0.00 118 15 11.28 MTNR1B 0 genome.wustl.edu 37 11 92703096 92703096 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 11 92703096 92703096 C T SNP MTNR1B ENST00000257068 human ensembl 74_37 +1 known missense c.205 p.R69C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Mel_1A_rcpt - no_errors MTNR1B HGNC ENSG00000134640 tier1 - - 63 0 0.00 56 17 23.29 MUC6 0 genome.wustl.edu 37 11 1016373 1016376 + Frame_Shift_Del DEL GAAG GAAG - TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 GAAG GAAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 11 1016373 1016376 GAAG - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known frame_shift_del c.6428_6425 p.S2142fs 0.001:0.000:0.000:0.002 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 79 0 0.00 26 6 18.75 MUC6 0 genome.wustl.edu 37 11 1031203 1031203 + Silent SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 11 1031203 1031203 G A SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known silent c.540 p.D180 0.937 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 - - 64 0 0.00 23 16 41.03 MYADML 0 genome.wustl.edu 37 2 33953082 33953082 + RNA SNP C C G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 2 33953082 33953082 C G SNP MYADML ENST00000474610 human ensembl 74_37 -1 known rna NULL NULL 0.049 - - - no_errors MYADML HGNC ENSG00000239649 21 0 0.00 23 4 14.81 MYH15 0 genome.wustl.edu 37 3 108205371 108205371 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 3 108205371 108205371 G T SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known missense c.934 p.L312M 0.791 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,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 51 0 0.00 37 2 5.13 MYRF 0 genome.wustl.edu 37 11 61541625 61541625 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 11 61541625 61541625 C T SNP MYRF ENST00000278836 human ensembl 74_37 +1 known silent c.1302 p.H434 0.953 pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 tier1 - - 31 0 0.00 27 9 25.00 NAV3 0 genome.wustl.edu 37 12 78400991 78400991 + Missense_Mutation SNP A A C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 12 78400991 78400991 A C SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.1673 p.K558T 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 tier1 - - 37 0 0.00 6 41 87.23 NETO1 0 genome.wustl.edu 37 18 70532913 70532913 + RNA SNP T T G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 18 70532913 70532913 T G SNP NETO1 ENST00000580049 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NETO1 HGNC ENSG00000166342 tier1 - - 21 0 0.00 22 11 33.33 NFASC 0 genome.wustl.edu 37 1 204971813 204971813 + Missense_Mutation SNP C C G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 204971813 204971813 C G SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.3547 p.R1183G 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_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 tier1 - - 38 0 0.00 46 22 32.35 NFATC2 0 genome.wustl.edu 37 20 50140171 50140171 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 20 50140171 50140171 C T SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known silent c.609 p.P203 0.148 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 tier1 - - 92 0 0.00 62 60 48.39 NOD2 0 genome.wustl.edu 37 16 50745399 50745399 + Frame_Shift_Del DEL C C - TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 16 50745399 50745399 C - DEL NOD2 ENST00000300589 human ensembl 74_37 +1 known frame_shift_del c.1577 p.P528fs 0.928 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 tier1 19 0 0.00 29 2 6.45 NOP14 0 genome.wustl.edu 37 4 2956223 2956223 + Silent SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 4 2956223 2956223 G A SNP NOP14 ENST00000416614 human ensembl 74_37 -1 known silent c.540 p.G180 0.503 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 tier1 - - 43 0 0.00 7 44 86.27 NOTCH2NL 0 genome.wustl.edu 37 1 145290438 145290438 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 145290438 145290438 C T SNP NOTCH2NL ENST00000344859 human ensembl 74_37 +1 known missense c.644 p.P215L 0.001 pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors NOTCH2NL HGNC ENSG00000213240 tier1 - - 176 0 0.00 227 16 6.58 NPAP1 0 genome.wustl.edu 37 15 24922225 24922225 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 15 24922225 24922225 C T SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.1211 p.P404L 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 tier1 - - 49 0 0.00 42 4 8.70 NPC1L1 0 genome.wustl.edu 37 7 44555412 44555412 + Silent SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 7 44555412 44555412 G T SNP NPC1L1 ENST00000289547 human ensembl 74_37 -1 known silent c.3867 p.L1289 0.998 pfam_Patched pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 25 0 0.00 28 2 6.67 NR0B1 0 genome.wustl.edu 37 X 30327395 30327395 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 X 30327395 30327395 G A SNP NR0B1 ENST00000378970 human ensembl 74_37 -1 known missense c.86 p.A29V 0.004 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B1 HGNC ENSG00000169297 tier1 - - 11 0 0.00 2 9 81.82 NR1D1 0 genome.wustl.edu 37 17 38253456 38253456 + Missense_Mutation SNP C C A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 17 38253456 38253456 C A SNP NR1D1 ENST00000246672 human ensembl 74_37 -1 known missense c.232 p.D78Y 0.367 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,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D1 HGNC ENSG00000126368 tier1 - - 114 0 0.00 62 7 10.14 NRXN1 0 genome.wustl.edu 37 2 51255171 51255171 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 2 51255171 51255171 G T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.241 p.L81M 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 tier1 - - 10 0 0.00 10 5 33.33 NUP107 0 genome.wustl.edu 37 12 69084420 69084420 + Missense_Mutation SNP C C G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 12 69084420 69084420 C G SNP NUP107 ENST00000229179 human ensembl 74_37 +1 known missense c.197 p.T66R 0.001 NULL pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 tier1 - - 46 0 0.00 47 21 30.88 NUTM2F 0 genome.wustl.edu 37 9 97082712 97082712 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 9 97082712 97082712 C T SNP NUTM2F ENST00000253262 human ensembl 74_37 -1 known silent c.1146 p.A382 0.024 NULL NULL - no_errors NUTM2F HGNC ENSG00000130950 tier1 - - 389 0 0.00 221 272 55.17 OCA2 0 genome.wustl.edu 37 15 28196953 28196953 + Missense_Mutation SNP A A G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 15 28196953 28196953 A G SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known missense c.1928 p.V643A 1.000 pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 tier1 - - 79 0 0.00 60 4 6.25 OR10G4 0 genome.wustl.edu 37 11 123886648 123886648 + Missense_Mutation SNP T T G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 11 123886648 123886648 T G SNP OR10G4 ENST00000320891 human ensembl 74_37 +1 known missense c.367 p.L123V 0.994 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 OR10G4 HGNC ENSG00000254737 53 0 0.00 64 6 8.57 OR10G9 0 genome.wustl.edu 37 11 123894086 123894086 + Missense_Mutation SNP T T G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 11 123894086 123894086 T G SNP OR10G9 ENST00000375024 human ensembl 74_37 +1 known missense c.367 p.L123V 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G9 HGNC ENSG00000236981 59 0 0.00 61 15 19.74 OR4Q3 0 genome.wustl.edu 37 14 20215952 20215952 + Missense_Mutation SNP C C A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 14 20215952 20215952 C A SNP OR4Q3 ENST00000331723 human ensembl 74_37 +1 known missense c.366 p.D122E 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4Q3 HGNC ENSG00000182652 tier1 - - 89 0 0.00 43 27 38.57 OR6K3 0 genome.wustl.edu 37 1 158687308 158687308 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 158687308 158687308 C T SNP OR6K3 ENST00000368146 human ensembl 74_37 -1 known missense c.646 p.V216M 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K3 HGNC ENSG00000203757 32 0 0.00 28 2 6.67 OR6V1 0 genome.wustl.edu 37 7 142749864 142749864 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 7 142749864 142749864 G A SNP OR6V1 ENST00000418316 human ensembl 74_37 +1 known missense c.427 p.A143T 0.973 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6V1 HGNC ENSG00000225781 38 0 0.00 33 4 10.81 OR7C2 0 genome.wustl.edu 37 19 15052983 15052983 + Missense_Mutation SNP T T C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 19 15052983 15052983 T C SNP OR7C2 ENST00000248072 human ensembl 74_37 +1 known missense c.683 p.V228A 0.012 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7C2 HGNC ENSG00000127529 69 0 0.00 59 5 7.81 PAK1IP1 0 genome.wustl.edu 37 6 10697578 10697578 + Missense_Mutation SNP T T G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 6 10697578 10697578 T G SNP PAK1IP1 ENST00000379568 human ensembl 74_37 +1 known missense c.106 p.F36V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAK1IP1 HGNC ENSG00000111845 tier1 - - 29 0 0.00 23 20 46.51 PANK3 0 genome.wustl.edu 37 5 167993037 167993037 + Missense_Mutation SNP T T C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 5 167993037 167993037 T C SNP PANK3 ENST00000239231 human ensembl 74_37 -1 known missense c.616 p.K206E 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK3 HGNC ENSG00000120137 tier1 - - 53 0 0.00 35 4 10.26 PCDH17 0 genome.wustl.edu 37 13 58299185 58299185 + Silent SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 13 58299185 58299185 G T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.3237 p.L1079 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 tier1 - - 41 0 0.00 38 16 29.63 PCDHGC3 0 genome.wustl.edu 37 5 140856511 140856511 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 5 140856511 140856511 C T SNP PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known silent c.828 p.N276 0.709 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC3 HGNC ENSG00000240184 tier1 - - 45 0 0.00 19 10 34.48 PEX6 0 genome.wustl.edu 37 6 42933038 42933038 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 6 42933038 42933038 G T SNP PEX6 ENST00000304611 human ensembl 74_37 -1 known missense c.2540 p.A847D 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors PEX6 HGNC ENSG00000124587 23 0 0.00 58 4 6.45 PIEZO1 0 genome.wustl.edu 37 16 88800373 88800375 + In_Frame_Del DEL TCC TCC - TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 16 88800373 88800375 TCC - DEL PIEZO1 ENST00000301015 human ensembl 74_37 -1 novel in_frame_del c.2270_2268 p.E756in_frame_del 0.000:0.000:0.000 NULL pfam_Piezo - no_errors PIEZO1 HGNC ENSG00000103335 tier1 50 0 0.00 37 5 11.90 PIK3C2B 0 genome.wustl.edu 37 1 204433694 204433694 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 204433694 204433694 G T SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known missense c.1073 p.T358N 0.990 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 tier1 - - 50 0 0.00 71 4 5.33 PIK3C2G 0 genome.wustl.edu 37 12 18552745 18552745 + Missense_Mutation SNP C C G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 12 18552745 18552745 C G SNP PIK3C2G ENST00000538779 human ensembl 74_37 +1 known missense c.2279 p.S760C 0.993 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 tier1 - - 61 0 0.00 65 37 36.27 PIK3CD 0 genome.wustl.edu 37 1 9777670 9777670 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 9777670 9777670 G T SNP PIK3CD ENST00000536656 human ensembl 74_37 +1 known missense c.901 p.D301Y 0.968 superfamily_C2_dom,smart_PI3K_C2_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 tier1 - - 74 0 0.00 26 62 70.45 PIP4K2B 0 genome.wustl.edu 37 17 36935757 36935757 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 17 36935757 36935757 G T SNP PIP4K2B ENST00000269554 human ensembl 74_37 -1 known missense c.533 p.T178K 1.000 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 PIP4K2B HGNC ENSG00000141720 34 0 0.00 47 3 6.00 PIP5KL1 0 genome.wustl.edu 37 9 130691998 130691998 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 9 130691998 130691998 G A SNP PIP5KL1 ENST00000388747 human ensembl 74_37 -1 novel missense c.197 p.A66V 1.000 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5KL1 HGNC ENSG00000167103 tier1 - - 39 0 0.00 48 4 7.69 PLCB4 0 genome.wustl.edu 37 20 9434087 9434087 + Missense_Mutation SNP G G C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 20 9434087 9434087 G C SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known missense c.2938 p.E980Q 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,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,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 tier1 - - 75 0 0.00 31 50 61.73 PNLIPRP1 0 genome.wustl.edu 37 10 118351287 118351287 + Silent SNP A A G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 10 118351287 118351287 A G SNP PNLIPRP1 ENST00000358834 human ensembl 74_37 +1 known silent c.54 p.K18 0.057 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase - no_errors PNLIPRP1 HGNC ENSG00000187021 tier1 - - 27 0 0.00 17 23 57.50 POTEH 0 genome.wustl.edu 37 22 16266948 16266948 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 22 16266948 16266948 C T SNP POTEH ENST00000343518 human ensembl 74_37 -1 known missense c.1501 p.E501K 0.003 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEH HGNC ENSG00000198062 tier1 - - 415 0 0.00 325 61 15.76 PPARGC1B 0 genome.wustl.edu 37 5 149216457 149216459 + In_Frame_Del DEL GGA GGA - TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 5 149216457 149216459 GGA - DEL PPARGC1B ENST00000309241 human ensembl 74_37 +1 known in_frame_del c.2439_2441 p.E817in_frame_del 0.792:0.855:0.852 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1B HGNC ENSG00000155846 tier1 30 0 0.00 18 2 10.00 PPFIA2 0 genome.wustl.edu 37 12 81655762 81655762 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 12 81655762 81655762 C T SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known silent c.3773 p.*1258 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 tier1 - - 25 0 0.00 36 13 26.53 PPP1R12B 0 genome.wustl.edu 37 1 202407189 202407190 + Frame_Shift_Ins INS - - T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 202407189 202407190 - T INS PPP1R12B ENST00000480184 human ensembl 74_37 +1 novel frame_shift_ins c.1495_1496 p.F503fs 0.085:0.041 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R12B HGNC ENSG00000077157 tier1 35 0 0.00 38 3 7.32 PPP1R7 0 genome.wustl.edu 37 2 242089933 242089933 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 2 242089933 242089933 G A SNP PPP1R7 ENST00000234038 human ensembl 74_37 +1 known missense c.23 p.G8E 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors PPP1R7 HGNC ENSG00000115685 tier1 - - 44 0 0.00 29 27 48.21 PPP2R2D 0 genome.wustl.edu 37 10 133761153 133761153 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 10 133761153 133761153 G T SNP PPP2R2D ENST00000455566 human ensembl 74_37 +1 known missense c.847 p.V283L 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2D HGNC ENSG00000175470 tier1 - - 107 0 0.00 26 64 71.11 PRAMEF6 0 genome.wustl.edu 37 1 13000963 13000963 + Silent SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 13000963 13000963 G A SNP PRAMEF6 ENST00000355096 human ensembl 74_37 -1 known silent c.720 p.S240 0.000 NULL NULL - no_errors PRAMEF6 HGNC ENSG00000232423 tier1 rs200242081 - 11 0 0.00 14 7 33.33 PRDM6 0 genome.wustl.edu 37 5 122435415 122435415 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 5 122435415 122435415 G A SNP PRDM6 ENST00000407847 human ensembl 74_37 +1 known missense c.659 p.R220H 1.000 NULL pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM6 HGNC ENSG00000061455 tier1 - - 37 0 0.00 35 4 10.26 PRKDC 0 genome.wustl.edu 37 8 48866998 48866998 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 8 48866998 48866998 C T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.408 p.Q136 0.997 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 tier1 - - 98 0 0.00 96 59 38.06 PRRC2C 0 genome.wustl.edu 37 1 171482243 171482243 + Silent SNP T T C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 171482243 171482243 T C SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known silent c.222 p.P74 1.000 pfam_BAT2_N pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 tier1 - - 51 0 0.00 46 15 24.59 PSMD12 0 genome.wustl.edu 37 17 65346353 65346353 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 17 65346353 65346353 C T SNP PSMD12 ENST00000356126 human ensembl 74_37 -1 known missense c.397 p.E133K 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors PSMD12 HGNC ENSG00000197170 42 0 0.00 37 2 5.13 PSMF1 0 genome.wustl.edu 37 20 1146974 1146974 + RNA SNP T T A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 20 1146974 1146974 T A SNP PSMF1 ENST00000418246 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors PSMF1 HGNC ENSG00000125818 tier1 - - 16 0 0.00 22 6 21.43 PTPRVP 0 genome.wustl.edu 37 1 202158058 202158058 + RNA SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 202158058 202158058 G T SNP PTPRVP ENST00000482597 human ensembl 74_37 +1 known rna NULL NULL 0.422 - - - no_errors PTPRVP HGNC ENSG00000243323 tier1 - - 72 0 0.00 66 4 5.71 RAB11B 0 genome.wustl.edu 37 19 8468391 8468391 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 19 8468391 8468391 C T SNP RAB11B ENST00000328024 human ensembl 74_37 +1 known silent c.606 p.P202 1.000 superfamily_P-loop_NTPase,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB11B HGNC ENSG00000185236 tier1 - - 111 0 0.00 20 87 81.31 RASA1 0 genome.wustl.edu 37 5 86564473 86564474 + Frame_Shift_Ins INS - - C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 5 86564473 86564474 - C INS RASA1 ENST00000274376 human ensembl 74_37 +1 known frame_shift_ins c.205_206 p.E70fs 0.187:0.178 NULL pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 tier1 30 0 0.00 30 13 30.23 RBL1 0 genome.wustl.edu 37 20 35724277 35724277 + Nonsense_Mutation SNP C C A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 20 35724277 35724277 C A SNP RBL1 ENST00000373664 human ensembl 74_37 -1 known nonsense c.55 p.E19* 0.997 NULL pfam_RB_A,pfam_RB_B,pfam_RB_N,pfam_RB_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC ENSG00000080839 tier1 - - 49 0 0.00 27 24 47.06 RECQL5 0 genome.wustl.edu 37 17 73627067 73627067 + Silent SNP T T C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 17 73627067 73627067 T C SNP RECQL5 ENST00000317905 human ensembl 74_37 -1 known silent c.1572 p.E524 0.827 NULL pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 tier1 - - 109 0 0.00 9 87 90.62 RFC5 0 genome.wustl.edu 37 12 118463597 118463597 + Silent SNP C C A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 12 118463597 118463597 C A SNP RFC5 ENST00000454402 human ensembl 74_37 +1 known silent c.627 p.S209 1.000 superfamily_P-loop_NTPase pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_DUF815,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC5 HGNC ENSG00000111445 48 0 0.00 55 3 5.17 RFX3 0 genome.wustl.edu 37 9 3266289 3266289 + Silent SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 9 3266289 3266289 G A SNP RFX3 ENST00000382004 human ensembl 74_37 -1 known silent c.1374 p.A458 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 tier1 - - 45 0 0.00 10 18 64.29 RGR 0 genome.wustl.edu 37 10 86007670 86007670 + RNA SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 10 86007670 86007670 C T SNP RGR ENST00000469446 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RGR HGNC ENSG00000148604 tier1 - - 16 0 0.00 1 9 90.00 RNA28S5 0 genome.wustl.edu 37 GL000220.1 118086 118086 + RNA SNP C C G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 GL000220.1 118086 118086 C G SNP RNA28S5 ENST00000607521 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors RNA28S5 HGNC ENSG00000266658 tier1 - - 31 0 0.00 16 10 38.46 ROR1 0 genome.wustl.edu 37 1 64515405 64515405 + Missense_Mutation SNP C C A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 64515405 64515405 C A SNP ROR1 ENST00000371079 human ensembl 74_37 +1 known missense c.206 p.T69K 1.000 pirsf_Tyr_kinase_rcpt_ROR,pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR1 HGNC ENSG00000185483 59 0 0.00 36 3 7.69 ROR2 0 genome.wustl.edu 37 9 94499701 94499701 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 9 94499701 94499701 C T SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known missense c.594 p.M198I 1.000 pirsf_Tyr_kinase_rcpt_ROR,pfam_Frizzled_dom,superfamily_Frizzled_dom,pfscan_Frizzled_dom pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR2 HGNC ENSG00000169071 tier1 - - 78 0 0.00 21 45 68.18 RREB1 0 genome.wustl.edu 37 6 7230282 7230282 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 6 7230282 7230282 G T SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known missense c.1950 p.Q650H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 tier1 - - 80 0 0.00 78 5 6.02 SAMD3 0 genome.wustl.edu 37 6 130536495 130536495 + RNA DEL T T - TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 6 130536495 130536495 T - DEL SAMD3 ENST00000533296 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SAMD3 HGNC ENSG00000164483 tier1 20 0 0.00 18 3 14.29 SCGB2A1 0 genome.wustl.edu 37 11 61978031 61978031 + Missense_Mutation SNP A A G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 11 61978031 61978031 A G SNP SCGB2A1 ENST00000244930 human ensembl 74_37 +1 known missense c.202 p.N68D 0.000 pfam_Secretoglobin,superfamily_Secretoglobin pfam_Secretoglobin,superfamily_Secretoglobin - no_errors SCGB2A1 HGNC ENSG00000124939 tier1 - - 52 0 0.00 69 4 5.48 SEC24C 0 genome.wustl.edu 37 10 75530546 75530546 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 10 75530546 75530546 G A SNP SEC24C ENST00000339365 human ensembl 74_37 +1 known missense c.3134 p.R1045Q 0.999 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 tier1 - - 40 0 0.00 56 11 16.42 SETDB2 0 genome.wustl.edu 37 13 50034315 50034315 + Missense_Mutation SNP A A T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 13 50034315 50034315 A T SNP SETDB2 ENST00000317257 human ensembl 74_37 +1 known missense c.89 p.N30I 1.000 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom - no_errors SETDB2 HGNC ENSG00000136169 tier1 - - 52 0 0.00 33 27 45.00 SGCZ 0 genome.wustl.edu 37 8 14022123 14022123 + Missense_Mutation SNP C C A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 8 14022123 14022123 C A SNP SGCZ ENST00000382080 human ensembl 74_37 -1 known missense c.513 p.E171D 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCZ HGNC ENSG00000185053 50 0 0.00 38 2 5.00 SH2D3A 0 genome.wustl.edu 37 19 6761131 6761131 + RNA SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 19 6761131 6761131 G A SNP SH2D3A ENST00000599563 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SH2D3A HGNC ENSG00000125731 tier1 - - 13 0 0.00 0 7 100.00 SH3TC2 0 genome.wustl.edu 37 5 148407322 148407322 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 5 148407322 148407322 C T SNP SH3TC2 ENST00000515425 human ensembl 74_37 -1 known missense c.1973 p.R658H 0.998 NULL pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 tier1 rs138040787 - 42 0 0.00 20 14 41.18 SIRT3 0 genome.wustl.edu 37 11 218900 218900 + Missense_Mutation SNP C C G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 11 218900 218900 C G SNP SIRT3 ENST00000382743 human ensembl 74_37 -1 known missense c.1111 p.E371Q 0.073 pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom - no_errors SIRT3 HGNC ENSG00000142082 tier1 - - 51 0 0.00 41 12 22.64 SLC1A5 0 genome.wustl.edu 37 19 47287780 47287780 + Frame_Shift_Del DEL A A - TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 19 47287780 47287780 A - DEL SLC1A5 ENST00000542575 human ensembl 74_37 -1 known frame_shift_del c.603 p.R202fs 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A5 HGNC ENSG00000105281 tier1 46 0 0.00 34 2 5.56 SLC24A2 0 genome.wustl.edu 37 9 19528098 19528098 + Silent SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 9 19528098 19528098 G T SNP SLC24A2 ENST00000341998 human ensembl 74_37 -1 known silent c.1518 p.S506 1.000 tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A2 HGNC ENSG00000155886 tier1 - - 45 0 0.00 24 3 11.11 SLC25A44 0 genome.wustl.edu 37 1 156180849 156180849 + RNA SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 156180849 156180849 G T SNP SLC25A44 ENST00000469537 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC25A44 HGNC ENSG00000160785 tier1 - - 23 0 0.00 19 4 17.39 SLC26A10 0 genome.wustl.edu 37 12 58017820 58017820 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 12 58017820 58017820 G A SNP SLC26A10 ENST00000320442 human ensembl 74_37 +1 known missense c.1166 p.R389H 1.000 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A10 HGNC ENSG00000135502 tier1 - - 50 0 0.00 8 35 81.40 SLC39A7 0 genome.wustl.edu 37 6 33170809 33170809 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 6 33170809 33170809 G A SNP SLC39A7 ENST00000374675 human ensembl 74_37 +1 known missense c.1063 p.V355I 1.000 pfam_ZIP pfam_ZIP,prints_Kininogen - no_errors SLC39A7 HGNC ENSG00000112473 tier1 - - 61 0 0.00 85 23 21.30 SMG1P1 0 genome.wustl.edu 37 16 22470724 22470724 + RNA SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 16 22470724 22470724 G A SNP SMG1P1 ENST00000308347 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SMG1P1 HGNC ENSG00000237296 tier1 - - 23 0 0.00 37 7 15.91 SNORD115-10 0 genome.wustl.edu 37 15 25432690 25432690 + RNA SNP T T G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 15 25432690 25432690 T G SNP SNORD115-10 ENST00000365073 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors SNORD115-10 HGNC ENSG00000201943 tier1 - - 147 0 0.00 75 87 53.70 SNORD115-12 0 genome.wustl.edu 37 15 25436571 25436571 + RNA SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 15 25436571 25436571 G T SNP SNORD115-12 ENST00000362583 human ensembl 74_37 +1 known rna NULL NULL 0.876 - - - no_errors SNORD115-12 HGNC ENSG00000199453 tier1 - - 155 0 0.00 50 70 58.33 SNRK 0 genome.wustl.edu 37 3 43344790 43344790 + Missense_Mutation SNP T T A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 3 43344790 43344790 T A SNP SNRK ENST00000296088 human ensembl 74_37 +1 known missense c.95 p.L32H 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SNRK HGNC ENSG00000163788 tier1 - - 52 0 0.00 18 9 33.33 SOGA1 0 genome.wustl.edu 37 20 35422823 35422823 + Missense_Mutation SNP T T C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 20 35422823 35422823 T C SNP SOGA1 ENST00000237536 human ensembl 74_37 -1 known missense c.3662 p.D1221G 1.000 NULL pfam_SOGA - no_errors SOGA1 HGNC ENSG00000149639 tier1 - - 46 0 0.00 47 35 42.17 SPATA13 0 genome.wustl.edu 37 13 24798141 24798141 + Missense_Mutation SNP T T A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 13 24798141 24798141 T A SNP SPATA13 ENST00000382108 human ensembl 74_37 +1 known missense c.1074 p.H358Q 0.980 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors SPATA13 HGNC ENSG00000182957 tier1 - - 83 0 0.00 62 28 30.77 SPATA31D1 0 genome.wustl.edu 37 9 84608189 84608189 + Missense_Mutation SNP T T C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 9 84608189 84608189 T C SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.2804 p.L935P 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 tier1 - - 73 0 0.00 48 56 53.85 SRCAP 0 genome.wustl.edu 37 16 30749528 30749529 + Frame_Shift_Del DEL CG CG - TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 CG CG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 16 30749528 30749529 CG - DEL SRCAP ENST00000262518 human ensembl 74_37 +1 known frame_shift_del c.8167_8168 p.R2723fs 1.000:1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 tier1 78 0 0.00 76 9 10.59 STARD9 0 genome.wustl.edu 37 15 42867918 42867918 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 15 42867918 42867918 C T SNP STARD9 ENST00000290607 human ensembl 74_37 +1 known missense c.5 p.A2V 1.000 smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 tier1 - - 224 0 0.00 220 104 31.80 STAT5A 0 genome.wustl.edu 37 17 40457645 40457645 + Silent SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 17 40457645 40457645 G A SNP STAT5A ENST00000345506 human ensembl 74_37 +1 known silent c.1398 p.V466 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 tier1 - - 89 0 0.00 73 4 5.19 SUN2 0 genome.wustl.edu 37 22 39134611 39134611 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 22 39134611 39134611 G T SNP SUN2 ENST00000216064 human ensembl 74_37 -1 known missense c.1928 p.P643H 1.000 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 tier1 - - 70 0 0.00 44 4 8.33 SUPT6H 0 genome.wustl.edu 37 17 27003311 27003311 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 17 27003311 27003311 C T SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.760 p.R254C 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 60 0 0.00 37 4 9.76 SYNE1 0 genome.wustl.edu 37 6 152746668 152746668 + Splice_Site SNP T T C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 6 152746668 152746668 T C SNP SYNE1 ENST00000448038 human ensembl 74_37 -1 known splice_site c.5138-2 e38-2 0.607 - - - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 59 0 0.00 30 40 57.14 SYNE1 0 genome.wustl.edu 37 6 152751730 152751730 + Missense_Mutation SNP A A C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 6 152751730 152751730 A C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.4576 p.L1526V 0.990 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 44 0 0.00 47 10 17.24 TAF2 0 genome.wustl.edu 37 8 120795685 120795685 + Missense_Mutation SNP T T G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 8 120795685 120795685 T G SNP TAF2 ENST00000378164 human ensembl 74_37 -1 known missense c.2048 p.D683A 1.000 NULL pfam_Peptidase_M1_N,superfamily_ARM-type_fold - no_errors TAF2 HGNC ENSG00000064313 tier1 - - 45 0 0.00 77 24 23.76 TBC1D21 0 genome.wustl.edu 37 15 74177204 74177204 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 15 74177204 74177204 C T SNP TBC1D21 ENST00000300504 human ensembl 74_37 +1 known silent c.450 p.L150 0.947 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D21 HGNC ENSG00000167139 tier1 - - 42 0 0.00 27 17 38.64 TBC1D9 0 genome.wustl.edu 37 4 141580817 141580817 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 4 141580817 141580817 C T SNP TBC1D9 ENST00000442267 human ensembl 74_37 -1 known missense c.1846 p.E616K 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,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 tier1 - - 49 0 0.00 30 19 38.78 TCAM1P 0 genome.wustl.edu 37 17 61939715 61939715 + RNA SNP C C A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 17 61939715 61939715 C A SNP TCAM1P ENST00000478379 human ensembl 74_37 +1 known rna NULL NULL 0.037 - - - no_errors TCAM1P HGNC ENSG00000240280 40 0 0.00 52 6 10.34 TDRD15 0 genome.wustl.edu 37 2 21363593 21363593 + Missense_Mutation SNP T T G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 2 21363593 21363593 T G SNP TDRD15 ENST00000405799 human ensembl 74_37 +1 novel missense c.3254 p.L1085R 0.994 NULL pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors TDRD15 HGNC ENSG00000218819 tier1 - - 90 0 0.00 62 50 44.25 TDRD15 0 genome.wustl.edu 37 2 21364417 21364417 + Missense_Mutation SNP T T A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 2 21364417 21364417 T A SNP TDRD15 ENST00000405799 human ensembl 74_37 +1 novel missense c.4078 p.Y1360N 0.996 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors TDRD15 HGNC ENSG00000218819 tier1 - - 33 0 0.00 17 29 63.04 TGFBR2 0 genome.wustl.edu 37 3 30664745 30664745 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 3 30664745 30664745 C T SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known missense c.149 p.T50I 0.053 pirsf_Transform_growth_fac-b_typ-2 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 tier1 - - 84 0 0.00 47 27 36.49 TMEFF1 0 genome.wustl.edu 37 9 103271286 103271286 + Splice_Site SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 9 103271286 103271286 G T SNP TMEFF1 ENST00000374879 human ensembl 74_37 +1 known splice_site c.307-1 e3-1 1.000 - - - no_errors TMEFF1 HGNC ENSG00000241697 38 0 0.00 54 3 5.26 TMEM255A 0 genome.wustl.edu 37 X 119402112 119402112 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 X 119402112 119402112 G T SNP TMEM255A ENST00000309720 human ensembl 74_37 -1 known missense c.878 p.A293D 1.000 NULL NULL - no_errors TMEM255A HGNC ENSG00000125355 tier1 - - 43 0 0.00 33 4 10.81 TNKS1BP1 0 genome.wustl.edu 37 11 57085349 57085349 + Silent SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 11 57085349 57085349 G A SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known silent c.741 p.S247 0.000 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 tier1 - - 30 0 0.00 13 19 59.38 TP53 0 genome.wustl.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 17 7577094 7577094 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.844 p.R282W 0.997 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 rs28934574 - 47 0 0.00 11 30 73.17 TRIM28 0 genome.wustl.edu 37 19 59060995 59060995 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 19 59060995 59060995 C T SNP TRIM28 ENST00000253024 human ensembl 74_37 +1 known missense c.1960 p.P654S 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors TRIM28 HGNC ENSG00000130726 tier1 - - 43 0 0.00 43 4 8.51 TRIM42 0 genome.wustl.edu 37 3 140407140 140407140 + Missense_Mutation SNP T T A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 3 140407140 140407140 T A SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known missense c.1616 p.M539K 0.210 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 52 0 0.00 30 4 11.76 TRIM46 0 genome.wustl.edu 37 1 155156434 155156434 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 155156434 155156434 G A SNP TRIM46 ENST00000334634 human ensembl 74_37 +1 known missense c.2048 p.C683Y 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 tier1 - - 66 0 0.00 69 5 6.76 TRPC1 0 genome.wustl.edu 37 3 142467210 142467210 + Silent SNP A A G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 3 142467210 142467210 A G SNP TRPC1 ENST00000476941 human ensembl 74_37 +1 known silent c.540 p.K180 0.996 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 tier1 - - 66 0 0.00 62 4 6.06 TRPM3 0 genome.wustl.edu 37 9 74061672 74061672 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 9 74061672 74061672 C T SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.80 p.R27H 0.997 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 tier1 - - 74 0 0.00 50 64 56.14 TSHR 0 genome.wustl.edu 37 14 81557442 81557442 + Missense_Mutation SNP T T C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 14 81557442 81557442 T C SNP TSHR ENST00000298171 human ensembl 74_37 +1 known missense c.422 p.F141S 1.000 prints_TSH_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 tier1 - - 29 0 0.00 29 13 30.95 TSPEAR 0 genome.wustl.edu 37 21 45950995 45950995 + Silent SNP T T C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 21 45950995 45950995 T C SNP TSPEAR ENST00000323084 human ensembl 74_37 -1 known silent c.564 p.P188 0.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 56 0 0.00 52 3 5.36 TXNL4B 0 genome.wustl.edu 37 16 72122990 72122990 + Silent SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 16 72122990 72122990 C T SNP TXNL4B ENST00000268483 human ensembl 74_37 -1 known silent c.180 p.L60 0.998 pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 - no_errors TXNL4B HGNC ENSG00000140830 tier1 - - 77 0 0.00 65 4 5.80 UBE2K 0 genome.wustl.edu 37 4 39776478 39776478 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 4 39776478 39776478 G T SNP UBE2K ENST00000510719 human ensembl 74_37 +1 known missense c.88 p.G30C 0.909 NULL NULL - no_errors UBE2K HGNC ENSG00000078140 tier1 - - 30 0 0.00 19 4 17.39 UCP3 0 genome.wustl.edu 37 11 73715552 73715552 + Missense_Mutation SNP A A C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 11 73715552 73715552 A C SNP UCP3 ENST00000314032 human ensembl 74_37 -1 known missense c.620 p.L207R 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier - no_errors UCP3 HGNC ENSG00000175564 tier1 - - 61 0 0.00 29 42 59.15 UGT1A6 0 genome.wustl.edu 37 2 234601834 234601834 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 2 234601834 234601834 G A SNP UGT1A6 ENST00000305139 human ensembl 74_37 +1 known missense c.184 p.E62K 0.092 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A6 HGNC ENSG00000167165 tier1 - - 53 0 0.00 43 14 24.56 USP33 0 genome.wustl.edu 37 1 78200089 78200089 + Missense_Mutation SNP A A C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 78200089 78200089 A C SNP USP33 ENST00000357428 human ensembl 74_37 -1 known missense c.560 p.L187W 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP33 HGNC ENSG00000077254 tier1 - - 110 0 0.00 40 58 59.18 USP34 0 genome.wustl.edu 37 2 61510280 61510280 + Missense_Mutation SNP C C G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 2 61510280 61510280 C G SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.4998 p.E1666D 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 tier1 - - 43 0 0.00 29 38 56.72 USP34 0 genome.wustl.edu 37 2 61575959 61575959 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 2 61575959 61575959 C T SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.1606 p.D536N 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 tier1 - - 41 0 0.00 12 32 72.73 VCAN 0 genome.wustl.edu 37 5 82816505 82816505 + Missense_Mutation SNP A A C TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 5 82816505 82816505 A C SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.2380 p.S794R 0.111 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 tier1 - - 50 0 0.00 44 15 25.00 VPS13D 0 genome.wustl.edu 37 1 12398045 12398046 + RNA INS - - A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 12398045 12398046 - A INS VPS13D ENST00000487188 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.002 - - - no_errors VPS13D HGNC ENSG00000048707 tier1 10 0 0.00 9 2 18.18 WDFY3-AS2 0 genome.wustl.edu 37 4 85887683 85887683 + RNA SNP T T A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 4 85887683 85887683 T A SNP WDFY3-AS2 ENST00000451762 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors WDFY3-AS2 HGNC ENSG00000180769 tier1 - - 64 0 0.00 56 26 31.33 XIRP2 0 genome.wustl.edu 37 2 168105148 168105148 + Missense_Mutation SNP A A T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 2 168105148 168105148 A T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.7246 p.T2416S 0.021 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 74 0 0.00 53 33 38.37 ZDHHC5 0 genome.wustl.edu 37 11 57449977 57449977 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 11 57449977 57449977 G T SNP ZDHHC5 ENST00000287169 human ensembl 74_37 +1 known missense c.188 p.S63I 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC5 HGNC ENSG00000156599 tier1 - - 73 0 0.00 69 26 27.37 ZFYVE9 0 genome.wustl.edu 37 1 52747421 52747421 + Silent SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 52747421 52747421 G T SNP ZFYVE9 ENST00000287727 human ensembl 74_37 +1 known silent c.2958 p.P986 0.158 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 tier1 - - 54 0 0.00 75 4 5.06 ZNF148 0 genome.wustl.edu 37 3 124952122 124952122 + Missense_Mutation SNP T T A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 3 124952122 124952122 T A SNP ZNF148 ENST00000360647 human ensembl 74_37 -1 known missense c.1448 p.N483I 0.905 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF148 HGNC ENSG00000163848 tier1 - - 35 0 0.00 12 6 33.33 ZNF169 0 genome.wustl.edu 37 9 97063005 97063005 + Missense_Mutation SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 9 97063005 97063005 C T SNP ZNF169 ENST00000395395 human ensembl 74_37 +1 known missense c.1165 p.L389F 0.174 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 ZNF169 HGNC ENSG00000175787 tier1 - - 39 0 0.00 57 11 16.18 ZNF217 0 genome.wustl.edu 37 20 52198102 52198102 + Missense_Mutation SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 20 52198102 52198102 G A SNP ZNF217 ENST00000302342 human ensembl 74_37 -1 known missense c.1264 p.P422S 0.579 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 20 0 0.00 28 5 14.29 ZNF439 0 genome.wustl.edu 37 19 11979379 11979379 + Missense_Mutation SNP T T A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 19 11979379 11979379 T A SNP ZNF439 ENST00000304030 human ensembl 74_37 +1 known missense c.1495 p.L499I 0.299 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 ZNF439 HGNC ENSG00000171291 tier1 - - 49 0 0.00 52 4 7.14 ZNF587B 0 genome.wustl.edu 37 19 58353430 58353430 + Missense_Mutation SNP A A G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 19 58353430 58353430 A G SNP ZNF587B ENST00000594901 human ensembl 74_37 +1 novel missense c.1388 p.K463R 0.992 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 ZNF587B HGNC ENSG00000269343 tier1 - - 72 0 0.00 16 58 78.38 ZNF696 0 genome.wustl.edu 37 8 144378523 144378523 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 8 144378523 144378523 G T SNP ZNF696 ENST00000330143 human ensembl 74_37 +1 known missense c.678 p.K226N 0.079 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF696 HGNC ENSG00000185730 35 0 0.00 54 6 10.00 ZNF697 0 genome.wustl.edu 37 1 120165820 120165820 + Silent SNP G G A TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 1 120165820 120165820 G A SNP ZNF697 ENST00000421812 human ensembl 74_37 -1 known silent c.1146 p.G382 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF697 HGNC ENSG00000143067 tier1 - - 31 0 0.00 8 35 81.40 ZNF814 0 genome.wustl.edu 37 19 58384289 58384289 + Silent SNP A A G TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 19 58384289 58384289 A G SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known silent c.2469 p.T823 0.981 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 ZNF814 HGNC ENSG00000204514 tier1 - - 115 0 0.00 48 36 42.86 ZNF846 0 genome.wustl.edu 37 19 9875674 9875674 + RNA SNP C C T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 25eb1b50-dc9d-4d60-97be-336a33721453 38eb5d2e-28e0-4cb8-94bd-897c952276a4 19 9875674 9875674 C T SNP ZNF846 ENST00000587650 human ensembl 74_37 -1 known rna NULL NULL 0.016 - - - no_errors ZNF846 HGNC ENSG00000196605 tier1 - - 31 0 0.00 22 4 15.38