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 UBE4B 0 genome.wustl.edu 37 1 10155592 10155592 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 10155592 10155592 G A SNP UBE4B ENST00000343090 human ensembl 74_37 +1 known silent c.285 p.T95 0.006 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 81 0 0 41 14 25.4545 KIF1B 0 genome.wustl.edu 37 1 10384888 10384888 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 10384888 10384888 C T SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known silent c.2472 p.S824 0.000 pfam_KIF1B pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 137 0 0 84 35 29.4118 KIF1B 0 genome.wustl.edu 37 1 10399859 10399859 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 10399859 10399859 C T SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known missense c.3317 p.T1106M 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 36 0 0 24 13 35.1351 KIAA1324 0 genome.wustl.edu 37 1 109741246 109741246 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 109741246 109741246 C T SNP KIAA1324 ENST00000369939 human ensembl 74_37 +1 known silent c.2451 p.R817 0.002 superfamily_Man6P_isomerase_rcpt-bd_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324 HGNC ENSG00000116299 32 0 0 11 10 47.619 EPS8L3 0 genome.wustl.edu 37 1 110301862 110301862 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 110301862 110301862 C A SNP EPS8L3 ENST00000369805 human ensembl 74_37 -1 known missense c.403 p.G135W 0.989 pfam_PTB pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L3 HGNC ENSG00000198758 173 0 0 97 51 34.4595 AHCYL1 0 genome.wustl.edu 37 1 110551702 110551702 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 110551702 110551702 C T SNP AHCYL1 ENST00000369799 human ensembl 74_37 +1 known missense c.167 p.T56I 1.000 NULL pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase - no_errors AHCYL1 HGNC ENSG00000168710 91 0 0 39 17 30.3571 KCNC4 0 genome.wustl.edu 37 1 110754325 110754325 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 110754325 110754325 C T SNP KCNC4 ENST00000369787 human ensembl 74_37 +1 known silent c.204 p.P68 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv3.4 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC ENSG00000116396 38 0 0 16 6 27.2727 DRAXIN 0 genome.wustl.edu 37 1 11769435 11769435 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 11769435 11769435 G A SNP DRAXIN ENST00000294485 human ensembl 74_37 +1 known silent c.555 p.A185 0.999 NULL NULL - no_errors DRAXIN HGNC ENSG00000162490 30 0 0 23 12 34.2857 OTUD7B 0 genome.wustl.edu 37 1 149916658 149916658 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 149916658 149916658 C T SNP OTUD7B ENST00000369135 human ensembl 74_37 -1 known missense c.1630 p.G544S 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 146 0 0 90 56 38.3562 PSMB4 0 genome.wustl.edu 37 1 151373273 151373273 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 151373273 151373273 C T SNP PSMB4 ENST00000290541 human ensembl 74_37 +1 known silent c.528 p.A176 0.981 pfam_Proteasome_sua/b,pirsf_Proteasome_endopept_cplx_B pfam_Proteasome_sua/b,pirsf_Proteasome_endopept_cplx_B - no_errors PSMB4 HGNC ENSG00000159377 293 1 0.340136 155 69 30.8036 INTS3 0 genome.wustl.edu 37 1 153740271 153740271 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 153740271 153740271 C A SNP INTS3 ENST00000318967 human ensembl 74_37 +1 known missense c.2212 p.L738M 1.000 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 89 0 0 44 30 40.5405 GATAD2B 0 genome.wustl.edu 37 1 153785764 153785764 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 153785764 153785764 G A SNP GATAD2B ENST00000368655 human ensembl 74_37 -1 known silent c.1381 p.L461 1.000 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD2B HGNC ENSG00000143614 132 0 0 80 13 13.9785 ASH1L 0 genome.wustl.edu 37 1 155340428 155340428 + Missense_Mutation SNP C C G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 155340428 155340428 C G SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.6568 p.E2190Q 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 58 0 0 68 6 8.10811 MSTO1 0 genome.wustl.edu 37 1 155716601 155716601 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 155716601 155716601 C A SNP MSTO1 ENST00000538143 human ensembl 74_37 +1 known missense c.305 p.T102N 1.000 pfam_Misato_II_tubulin-like pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase - no_errors MSTO1 HGNC ENSG00000125459 37 0 0 23 4 14.8148 GON4L 0 genome.wustl.edu 37 1 155735282 155735282 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 155735282 155735282 C T SNP GON4L ENST00000368331 human ensembl 74_37 -1 known missense c.3982 p.E1328K 0.989 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 89 0 0 58 26 30.9524 PRCC 0 genome.wustl.edu 37 1 156756452 156756452 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 156756452 156756452 T C SNP PRCC ENST00000271526 human ensembl 74_37 +1 known missense c.569 p.L190P 1.000 NULL pfam_PRCC - no_errors PRCC HGNC ENSG00000143294 99 0 0 61 34 35.7895 PEAR1 0 genome.wustl.edu 37 1 156877817 156877817 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 156877817 156877817 C T SNP PEAR1 ENST00000292357 human ensembl 74_37 +1 known silent c.876 p.R292 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors PEAR1 HGNC ENSG00000187800 13 0 0 4 3 42.8571 FCRL4 0 genome.wustl.edu 37 1 157550197 157550197 + RNA SNP T T A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 157550197 157550197 T A SNP FCRL4 ENST00000479869 human ensembl 74_37 -1 known rna NULL NULL 0.025 - - - no_errors FCRL4 HGNC ENSG00000163518 37 0 0 31 19 38 CD1E 0 genome.wustl.edu 37 1 158325917 158325917 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 158325917 158325917 G A SNP CD1E ENST00000434258 human ensembl 74_37 +1 known missense c.920 p.C307Y 0.000 NULL pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1E HGNC ENSG00000158488 47 0 0 30 10 25 SPTA1 0 genome.wustl.edu 37 1 158639341 158639341 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 158639341 158639341 G A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.1690 p.R564W 0.780 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 171 0 0 114 43 27.3885 RSG1 0 genome.wustl.edu 37 1 16558758 16558758 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 16558758 16558758 G A SNP RSG1 ENST00000375599 human ensembl 74_37 -1 known missense c.562 p.R188W 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,prints_Small_GTPase - no_errors RSG1 HGNC ENSG00000132881 24 0 0 16 7 30.4348 DUSP27 0 genome.wustl.edu 37 1 167096269 167096269 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 167096269 167096269 G A SNP DUSP27 ENST00000271385 human ensembl 74_37 +1 known missense c.1901 p.R634Q 0.999 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC ENSG00000198842 30 0 0 18 12 40 ADCY10 0 genome.wustl.edu 37 1 167778932 167778932 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 167778932 167778932 C T SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known missense c.4816 p.V1606M 0.010 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 104 0 0 60 21 25.9259 SLC9C2 0 genome.wustl.edu 37 1 173516835 173516835 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 173516835 173516835 A G SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.1550 p.I517T 1.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 74 0 0 35 15 30 PAPPA2 0 genome.wustl.edu 37 1 176762727 176762727 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 176762727 176762727 C T SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known silent c.5052 p.P1684 0.991 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 101 0 0 29 14 32.5581 ASTN1 0 genome.wustl.edu 37 1 177133715 177133715 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 177133715 177133715 A G SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.98 p.L33P 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 32 0 0 12 10 45.4545 ASPM 0 genome.wustl.edu 37 1 197069737 197069737 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 197069737 197069737 A G SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.8644 p.Y2882H 0.000 superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 50 0 0 34 7 17.0732 DDX59 0 genome.wustl.edu 37 1 200635327 200635327 + Missense_Mutation SNP T T G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 200635327 200635327 T G SNP DDX59 ENST00000331314 human ensembl 74_37 -1 known missense c.542 p.Q181P 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX59 HGNC ENSG00000118197 126 0 0 56 50 47.1698 PKP1 0 genome.wustl.edu 37 1 201252870 201252870 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 201252870 201252870 T C SNP PKP1 ENST00000263946 human ensembl 74_37 +1 known missense c.40 p.C14R 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC ENSG00000081277 39 0 0 28 16 36.3636 NFASC 0 genome.wustl.edu 37 1 204956505 204956505 + RNA SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 204956505 204956505 C A SNP NFASC ENST00000495396 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors NFASC HGNC ENSG00000163531 10 0 0 9 5 35.7143 TMCC2 0 genome.wustl.edu 37 1 205238321 205238321 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 205238321 205238321 C T SNP TMCC2 ENST00000358024 human ensembl 74_37 +1 known missense c.991 p.R331C 0.996 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 64 0 0 35 20 36.3636 CR1 0 genome.wustl.edu 37 1 207787831 207787831 + Nonsense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 207787831 207787831 G T SNP CR1 ENST00000367049 human ensembl 74_37 +1 known nonsense c.6658 p.E2220* 1.000 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 58 0 0 45 4 8.16327 LAMB3 0 genome.wustl.edu 37 1 209807792 209807792 + Missense_Mutation SNP C C G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 209807792 209807792 C G SNP LAMB3 ENST00000356082 human ensembl 74_37 -1 known missense c.564 p.K188N 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 77 0 0 39 12 23.5294 USH2A 0 genome.wustl.edu 37 1 215848449 215848449 + Silent SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 215848449 215848449 T C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.12804 p.P4268 0.053 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 46 0 0 43 20 31.746 SKI 0 genome.wustl.edu 37 1 2235330 2235330 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 2235330 2235330 C T SNP SKI ENST00000378536 human ensembl 74_37 +1 known silent c.1263 p.L421 0.040 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKI HGNC ENSG00000157933 29 0 0 11 7 38.8889 LBR 0 genome.wustl.edu 37 1 225591060 225591060 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 225591060 225591060 G A SNP LBR ENST00000272163 human ensembl 74_37 -1 known missense c.1793 p.A598V 0.998 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC ENSG00000143815 104 0 0 53 34 39.0805 ADCK3 0 genome.wustl.edu 37 1 227171866 227171866 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 227171866 227171866 T C SNP ADCK3 ENST00000366777 human ensembl 74_37 +1 known missense c.1328 p.L443P 1.000 superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK3 HGNC ENSG00000163050 48 0 0 25 18 41.8605 GJC2 0 genome.wustl.edu 37 1 228346746 228346746 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 228346746 228346746 C T SNP GJC2 ENST00000366714 human ensembl 74_37 +1 known silent c.1287 p.S429 0.977 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJC2 HGNC ENSG00000198835 59 0 0 25 14 35.8974 OBSCN 0 genome.wustl.edu 37 1 228464704 228464704 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 228464704 228464704 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.6561 p.C2187 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 9 0 0 5 4 44.4444 OBSCN 0 genome.wustl.edu 37 1 228560646 228560646 + Missense_Mutation SNP G G C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 228560646 228560646 G C SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.22167 p.W7389C 0.083 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 44 0 0 18 5 21.7391 C1QB 0 genome.wustl.edu 37 1 22987798 22987798 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 22987798 22987798 C T SNP C1QB ENST00000314933 human ensembl 74_37 +1 known silent c.681 p.T227 0.001 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 C1QB HGNC ENSG00000173369 108 0 0 63 18 22.2222 PCNXL2 0 genome.wustl.edu 37 1 233120211 233120211 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 233120211 233120211 G A SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.6253 p.P2085S 0.967 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 110 0 0 42 14 25 KIAA1804 0 genome.wustl.edu 37 1 233514948 233514948 + Silent SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 233514948 233514948 G T SNP KIAA1804 ENST00000366624 human ensembl 74_37 +1 known silent c.2196 p.S732 0.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MLK4 Uniprot_gn ENSG00000143674 93 0 0 58 29 33.3333 SLC35F3 0 genome.wustl.edu 37 1 234367306 234367306 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 234367306 234367306 C T SNP SLC35F3 ENST00000366617 human ensembl 74_37 +1 known silent c.220 p.L74 0.999 NULL pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_SLC35_F1/F2/F6 - no_errors SLC35F3 HGNC ENSG00000183780 159 0 0 154 9 5.52147 ACTN2 0 genome.wustl.edu 37 1 236925859 236925859 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 236925859 236925859 G A SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known silent c.2625 p.V875 0.998 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 43 0 0 23 8 25.8065 DESI2 0 genome.wustl.edu 37 1 244855310 244855310 + Silent SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 244855310 244855310 A G SNP DESI2 ENST00000302550 human ensembl 74_37 +1 novel silent c.339 p.S113 1.000 pfam_PPPDE_dom pfam_PPPDE_dom - no_errors DESI2 HGNC ENSG00000121644 55 0 0 28 14 33.3333 CNST 0 genome.wustl.edu 37 1 246810999 246810999 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 246810999 246810999 C T SNP CNST ENST00000366513 human ensembl 74_37 +1 known missense c.1496 p.A499V 0.001 NULL NULL - no_errors CNST HGNC ENSG00000162852 105 0 0 56 22 28.2051 AHCTF1 0 genome.wustl.edu 37 1 247025328 247025328 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 247025328 247025328 G A SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known missense c.3695 p.P1232L 0.994 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 38 0 0 30 11 26.8293 TRIM58 0 genome.wustl.edu 37 1 248028188 248028188 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 248028188 248028188 C T SNP TRIM58 ENST00000366481 human ensembl 74_37 +1 known missense c.698 p.A233V 0.658 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM58 HGNC ENSG00000162722 16 0 0 5 7 58.3333 OR2T8 0 genome.wustl.edu 37 1 248084594 248084594 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 248084594 248084594 G A SNP OR2T8 ENST00000319968 human ensembl 74_37 +1 known missense c.275 p.R92H 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T8 HGNC ENSG00000177462 32 0 0 28 20 41.6667 OR2T33 0 genome.wustl.edu 37 1 248436842 248436842 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 248436842 248436842 C T SNP OR2T33 ENST00000318021 human ensembl 74_37 -1 known missense c.275 p.R92H 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T33 HGNC ENSG00000177212 113 0 0 87 29 25 MMEL1 0 genome.wustl.edu 37 1 2523063 2523063 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 2523063 2523063 C T SNP MMEL1 ENST00000378412 human ensembl 74_37 -1 known missense c.2173 p.G725R 0.992 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC ENSG00000142606 154 0 0 83 42 33.6 NR0B2 0 genome.wustl.edu 37 1 27238397 27238397 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 27238397 27238397 C T SNP NR0B2 ENST00000254227 human ensembl 74_37 -1 known missense c.713 p.R238H 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd 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 NR0B2 HGNC ENSG00000131910 162 0 0 85 24 22.0183 WASF2 0 genome.wustl.edu 37 1 27736343 27736343 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 27736343 27736343 G A SNP WASF2 ENST00000430629 human ensembl 74_37 -1 known silent c.1182 p.P394 0.212 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF2 HGNC ENSG00000158195 52 0 0 29 19 39.5833 RCC1 0 genome.wustl.edu 37 1 28862888 28862888 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 28862888 28862888 C T SNP RCC1 ENST00000373831 human ensembl 74_37 +1 known missense c.1025 p.S342L 1.000 superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCC1 HGNC ENSG00000180198 134 0 0 97 40 29.1971 IQCC 0 genome.wustl.edu 37 1 32672879 32672879 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 32672879 32672879 G A SNP IQCC ENST00000537469 human ensembl 74_37 +1 known silent c.837 p.A279 0.000 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCC HGNC ENSG00000160051 148 0 0 86 33 27.7311 AGO4 0 genome.wustl.edu 37 1 36288485 36288485 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 36288485 36288485 C T SNP AGO4 ENST00000373210 human ensembl 74_37 +1 known missense c.208 p.R70W 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 AGO4 HGNC ENSG00000134698 74 0 0 33 19 36.5385 STK40 0 genome.wustl.edu 37 1 36809855 36809855 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 36809855 36809855 G A SNP STK40 ENST00000373130 human ensembl 74_37 -1 known silent c.765 p.Y255 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK40 HGNC ENSG00000196182 92 0 0 54 28 34.1463 INPP5B 0 genome.wustl.edu 37 1 38411462 38411462 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 38411462 38411462 G A SNP INPP5B ENST00000373023 human ensembl 74_37 -1 known missense c.118 p.R40C 0.996 NULL pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors INPP5B HGNC ENSG00000204084 104 0 0 65 39 37.5 BMP8A 0 genome.wustl.edu 37 1 39988086 39988086 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 39988086 39988086 G A SNP BMP8A ENST00000331593 human ensembl 74_37 +1 known missense c.880 p.G294S 0.411 NULL pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP8A HGNC ENSG00000183682 157 0 0 84 19 18.4466 ENSG00000228192 0 genome.wustl.edu 37 1 43302784 43302784 + RNA SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 43302784 43302784 A G SNP ENSG00000228192 ENST00000416809 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-342M1.3 Clone_based_vega_gene ENSG00000228192 53 0 0 26 16 38.0952 CCDC17 0 genome.wustl.edu 37 1 46086576 46086576 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 46086576 46086576 T C SNP CCDC17 ENST00000343901 human ensembl 74_37 -1 known missense c.1502 p.Q501R 1.000 NULL NULL - no_errors CCDC17 HGNC ENSG00000159588 22 0 0 12 9 42.8571 MAST2 0 genome.wustl.edu 37 1 46498028 46498028 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 46498028 46498028 C T SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known silent c.3366 p.R1122 0.101 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 65 0 0 38 20 34.4828 LURAP1 0 genome.wustl.edu 37 1 46685377 46685377 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 46685377 46685377 C A SNP LURAP1 ENST00000371980 human ensembl 74_37 +1 known missense c.205 p.L69M 1.000 NULL NULL - no_errors LURAP1 HGNC ENSG00000171357 116 0 0 72 24 25 CYP4B1 0 genome.wustl.edu 37 1 47280902 47280902 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 47280902 47280902 C T SNP CYP4B1 ENST00000371923 human ensembl 74_37 +1 known missense c.1039 p.R347C 0.033 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4B1 HGNC ENSG00000142973 69 0 0 30 7 18.9189 RAB3B 0 genome.wustl.edu 37 1 52385787 52385787 + Splice_Site SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 52385787 52385787 C A SNP RAB3B ENST00000371655 human ensembl 74_37 -1 known splice_site c.473-1 e4-1 1.000 - - - no_errors RAB3B HGNC ENSG00000169213 35 0 0 29 8 21.6216 FAM151A 0 genome.wustl.edu 37 1 55075225 55075225 + Nonsense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 55075225 55075225 G A SNP FAM151A ENST00000302250 human ensembl 74_37 -1 known nonsense c.1474 p.Q492* 0.807 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151A HGNC ENSG00000162391 106 0 0 65 37 36.2745 PLEKHG5 0 genome.wustl.edu 37 1 6533171 6533171 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 6533171 6533171 T C SNP PLEKHG5 ENST00000537245 human ensembl 74_37 -1 known missense c.1096 p.R366G 0.984 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 70 0 0 25 21 45.6522 LEPR 0 genome.wustl.edu 37 1 66102677 66102677 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 66102677 66102677 G T SNP LEPR ENST00000349533 human ensembl 74_37 +1 known missense c.3477 p.K1159N 0.997 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 78 0 0 48 17 26.1538 TAS1R1 0 genome.wustl.edu 37 1 6636499 6636499 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 6636499 6636499 C T SNP TAS1R1 ENST00000333172 human ensembl 74_37 +1 known missense c.1285 p.H429Y 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R1 HGNC ENSG00000173662 199 0 0 116 35 23.1788 DIRAS3 0 genome.wustl.edu 37 1 68512858 68512858 + Silent SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 68512858 68512858 C A SNP DIRAS3 ENST00000370981 human ensembl 74_37 -1 known silent c.123 p.V41 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS3 HGNC ENSG00000162595 139 0 0 82 39 32.2314 FUBP1 0 genome.wustl.edu 37 1 78414859 78414859 + Missense_Mutation SNP T T G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 78414859 78414859 T G SNP FUBP1 ENST00000436586 human ensembl 74_37 -1 known missense c.1970 p.Q657P 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP1 HGNC ENSG00000162613 136 0 0 83 29 25.8929 RERE 0 genome.wustl.edu 37 1 8415661 8415661 + Splice_Site SNP T T G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 8415661 8415661 T G SNP RERE ENST00000337907 human ensembl 74_37 -1 known splice_site c.4487-2 e21-2 1.000 - - - no_errors RERE HGNC ENSG00000142599 25 0 0 14 5 26.3158 LPAR3 0 genome.wustl.edu 37 1 85331255 85331255 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 85331255 85331255 G A SNP LPAR3 ENST00000370611 human ensembl 74_37 -1 known silent c.549 p.Y183 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG7,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt - no_errors LPAR3 HGNC ENSG00000171517 80 0 0 58 27 31.7647 GBP6 0 genome.wustl.edu 37 1 89844152 89844152 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 89844152 89844152 A G SNP GBP6 ENST00000370456 human ensembl 74_37 +1 known missense c.605 p.N202S 1.000 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP6 HGNC ENSG00000183347 81 0 0 36 20 35.7143 LRRC8D 0 genome.wustl.edu 37 1 90399416 90399416 + Silent SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 90399416 90399416 T C SNP LRRC8D ENST00000337338 human ensembl 74_37 +1 known silent c.789 p.A263 0.038 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8D HGNC ENSG00000171492 30 0 0 27 4 12.9032 SLC2A7 0 genome.wustl.edu 37 1 9067418 9067418 + Silent SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 9067418 9067418 G T SNP SLC2A7 ENST00000400906 human ensembl 74_37 -1 known silent c.1143 p.L381 0.983 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A7 HGNC ENSG00000197241 55 0 0 28 15 34.8837 SEC31B 0 genome.wustl.edu 37 10 102265915 102265915 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 102265915 102265915 A G SNP SEC31B ENST00000370345 human ensembl 74_37 -1 known missense c.926 p.V309A 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 - no_errors SEC31B HGNC ENSG00000075826 116 0 0 58 45 43.6893 DPCD 0 genome.wustl.edu 37 10 103360978 103360978 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 103360978 103360978 G A SNP DPCD ENST00000370151 human ensembl 74_37 +1 known missense c.289 p.D97N 1.000 NULL NULL - no_errors DPCD HGNC ENSG00000166171 106 0 0 64 31 32.6316 FBXL15 0 genome.wustl.edu 37 10 104181683 104181683 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 104181683 104181683 T C SNP FBXL15 ENST00000224862 human ensembl 74_37 +1 known missense c.347 p.L116P 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_F-box_dom,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL15 HGNC ENSG00000107872 30 0 0 15 3 16.6667 TAF5 0 genome.wustl.edu 37 10 105138238 105138238 + Silent SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 105138238 105138238 T C SNP TAF5 ENST00000369839 human ensembl 74_37 +1 known silent c.1044 p.S348 1.000 NULL pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TAF5 HGNC ENSG00000148835 39 0 0 47 7 12.963 WDR96 0 genome.wustl.edu 37 10 105953694 105953694 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 105953694 105953694 C T SNP WDR96 ENST00000357060 human ensembl 74_37 -1 known missense c.1372 p.V458I 0.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu - no_errors WDR96 HGNC ENSG00000197748 104 0 0 48 36 42.8571 SORCS1 0 genome.wustl.edu 37 10 108923879 108923879 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 108923879 108923879 C A SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.406 p.G136W 1.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 98 0 0 84 20 19.2308 XPNPEP1 0 genome.wustl.edu 37 10 111637539 111637539 + RNA SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 111637539 111637539 A G SNP XPNPEP1 ENST00000460055 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors XPNPEP1 HGNC ENSG00000108039 110 0 0 56 20 26.3158 FAM160B1 0 genome.wustl.edu 37 10 116603660 116603660 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 116603660 116603660 C T SNP FAM160B1 ENST00000369248 human ensembl 74_37 +1 known missense c.977 p.P326L 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160B1 HGNC ENSG00000151553 124 0 0 65 20 23.5294 HSPA12A 0 genome.wustl.edu 37 10 118440716 118440716 + Missense_Mutation SNP A A C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 118440716 118440716 A C SNP HSPA12A ENST00000369209 human ensembl 74_37 -1 known missense c.974 p.V325G 1.000 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 102 0 0 40 17 29.8246 PTPRE 0 genome.wustl.edu 37 10 129847931 129847931 + Splice_Site SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 129847931 129847931 G A SNP PTPRE ENST00000254667 human ensembl 74_37 +1 known splice_site c.420+1 e4+1 1.000 - - - no_errors PTPRE HGNC ENSG00000132334 69 0 0 21 19 47.5 PRPF18 0 genome.wustl.edu 37 10 13639491 13639491 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 13639491 13639491 G A SNP PRPF18 ENST00000378572 human ensembl 74_37 +1 known missense c.100 p.A34T 0.993 NULL pfam_Prp18,pfam_PRP4-like,superfamily_Prp18,smart_SFM - no_errors PRPF18 HGNC ENSG00000165630 28 0 0 22 3 12 FAM107B 0 genome.wustl.edu 37 10 14816397 14816397 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 14816397 14816397 G A SNP FAM107B ENST00000181796 human ensembl 74_37 -1 known missense c.266 p.A89V 0.002 NULL pfam_DUF1151 - no_errors FAM107B HGNC ENSG00000065809 228 0 0 136 74 35.2381 TRDMT1 0 genome.wustl.edu 37 10 17201173 17201173 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 17201173 17201173 T C SNP TRDMT1 ENST00000377799 human ensembl 74_37 -1 known missense c.515 p.E172G 0.793 pfam_C5_MeTfrase,tigrfam_C5_MeTfrase pfam_C5_MeTfrase,prints_C5_MeTfrase,tigrfam_C5_MeTfrase - no_errors TRDMT1 HGNC ENSG00000107614 97 0 0 52 20 27.7778 ENKUR 0 genome.wustl.edu 37 10 25273749 25273749 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 25273749 25273749 T C SNP ENKUR ENST00000331161 human ensembl 74_37 -1 known missense c.680 p.K227R 1.000 NULL NULL - no_errors ENKUR HGNC ENSG00000151023 67 0 0 34 17 33.3333 ARMC4 0 genome.wustl.edu 37 10 28233746 28233746 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 28233746 28233746 T C SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known missense c.1532 p.K511R 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 122 0 0 73 32 30.4762 LYZL1 0 genome.wustl.edu 37 10 29599965 29599965 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 29599965 29599965 A G SNP LYZL1 ENST00000375500 human ensembl 74_37 +1 known missense c.562 p.K188E 1.000 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22_lys pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL1 HGNC ENSG00000120563 232 0 0 95 47 33.0986 SVIL 0 genome.wustl.edu 37 10 29747513 29747513 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 29747513 29747513 C T SNP SVIL ENST00000355867 human ensembl 74_37 -1 known silent c.6408 p.T2136 0.031 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 104 0 0 50 36 41.8605 SVIL 0 genome.wustl.edu 37 10 29813557 29813557 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 29813557 29813557 G A SNP SVIL ENST00000355867 human ensembl 74_37 -1 known silent c.2430 p.S810 0.986 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 183 0 0 84 52 38.2353 ZEB1 0 genome.wustl.edu 37 10 31809766 31809766 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 31809766 31809766 C T SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known silent c.1506 p.N502 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 90 0 0 46 27 36.9863 ZEB1 0 genome.wustl.edu 37 10 31815922 31815922 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 31815922 31815922 C T SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known silent c.3108 p.D1036 0.877 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 12 0 0 14 8 36.3636 PARD3 0 genome.wustl.edu 37 10 34626308 34626308 + Nonsense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 34626308 34626308 C A SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known nonsense c.2464 p.G822* 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 56 0 0 27 17 38.6364 KLF6 0 genome.wustl.edu 37 10 3824017 3824017 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 3824017 3824017 G A SNP KLF6 ENST00000497571 human ensembl 74_37 -1 known silent c.492 p.C164 0.925 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF6 HGNC ENSG00000067082 121 0 0 81 13 13.8298 GDF10 0 genome.wustl.edu 37 10 48438501 48438501 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 48438501 48438501 G A SNP GDF10 ENST00000224605 human ensembl 74_37 -1 known silent c.210 p.S70 0.255 pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors GDF10 HGNC ENSG00000107623 9 0 0 9 3 25 AKR1C1 0 genome.wustl.edu 37 10 5010361 5010361 + RNA SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 5010361 5010361 T C SNP AKR1C1 ENST00000477661 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AKR1C1 HGNC ENSG00000187134 13 0 0 9 7 43.75 AGAP7 0 genome.wustl.edu 37 10 51465445 51465445 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 51465445 51465445 G A SNP AGAP7 ENST00000374095 human ensembl 74_37 -1 known silent c.1011 p.S337 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP7 HGNC ENSG00000204169 172 0 0 148 31 17.3184 SGMS1 0 genome.wustl.edu 37 10 52067830 52067830 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 52067830 52067830 G A SNP SGMS1 ENST00000361781 human ensembl 74_37 -1 known missense c.974 p.A325V 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_P_Acid_Pase_2/haloperoxidase,pfscan_SAM - no_errors SGMS1 HGNC ENSG00000198964 98 0 0 51 34 40 FAM208B 0 genome.wustl.edu 37 10 5769037 5769037 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 5769037 5769037 G A SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known silent c.438 p.K146 0.000 pfam_DUF3699 pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 125 0 0 58 26 30.9524 ZNF365 0 genome.wustl.edu 37 10 64159485 64159485 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 64159485 64159485 C T SNP ZNF365 ENST00000395254 human ensembl 74_37 +1 known silent c.1161 p.R387 0.991 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 76 0 0 47 24 33.8028 AIFM2 0 genome.wustl.edu 37 10 71874701 71874701 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 71874701 71874701 C T SNP AIFM2 ENST00000307864 human ensembl 74_37 -1 known silent c.945 p.Q315 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2,prints_Rng_hydrolase-like - no_errors AIFM2 HGNC ENSG00000042286 37 0 0 20 9 31.0345 DNAJB12 0 genome.wustl.edu 37 10 74114697 74114697 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 74114697 74114697 G T SNP DNAJB12 ENST00000338820 human ensembl 74_37 -1 known missense c.61 p.R21S 0.980 NULL pfam_DUF1977_DnaJ-like,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB12 HGNC ENSG00000148719 45 0 0 29 12 29.2683 ENSG00000271880 0 genome.wustl.edu 37 10 88769420 88769420 + RNA SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 88769420 88769420 C T SNP ENSG00000271880 ENST00000433214 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-96C23.5 Clone_based_vega_gene ENSG00000271880 207 0 0 140 74 34.5794 HTR7 0 genome.wustl.edu 37 10 92617113 92617113 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 92617113 92617113 C T SNP HTR7 ENST00000336152 human ensembl 74_37 -1 known missense c.316 p.V106M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors HTR7 HGNC ENSG00000148680 96 0 0 58 34 36.9565 HECTD2 0 genome.wustl.edu 37 10 93221959 93221959 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 93221959 93221959 C T SNP HECTD2 ENST00000371681 human ensembl 74_37 +1 known silent c.618 p.C206 0.000 NULL superfamily_Globin-like - no_errors HECTD2 HGNC ENSG00000165338 137 0 0 56 37 39.7849 TUBB8 0 genome.wustl.edu 37 10 93397 93397 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 93397 93397 G A SNP TUBB8 ENST00000309812 human ensembl 74_37 -1 known missense c.935 p.T312M 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB8 HGNC ENSG00000173876 188 0 0 108 42 28 ZDHHC16 0 genome.wustl.edu 37 10 99211554 99211554 + Missense_Mutation SNP A A T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 99211554 99211554 A T SNP ZDHHC16 ENST00000370854 human ensembl 74_37 +1 known missense c.122 p.Y41F 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC16 HGNC ENSG00000171307 60 0 0 30 21 41.1765 MMP10 0 genome.wustl.edu 37 11 102650093 102650093 + Splice_Site SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 102650093 102650093 C A SNP MMP10 ENST00000279441 human ensembl 74_37 -1 known splice_site c.348-1 e3-1 1.000 - - - no_errors MMP10 HGNC ENSG00000166670 106 0 0 72 28 28 NNMT 0 genome.wustl.edu 37 11 114182908 114182908 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 114182908 114182908 C T SNP NNMT ENST00000299964 human ensembl 74_37 +1 known silent c.504 p.A168 0.009 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors NNMT HGNC ENSG00000166741 102 0 0 51 33 39.2857 SIDT2 0 genome.wustl.edu 37 11 117052201 117052201 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 117052201 117052201 C T SNP SIDT2 ENST00000278951 human ensembl 74_37 +1 known missense c.253 p.R85C 1.000 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 82 0 0 40 26 39.3939 TMPRSS4 0 genome.wustl.edu 37 11 117973950 117973950 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 117973950 117973950 G A SNP TMPRSS4 ENST00000437212 human ensembl 74_37 +1 known missense c.292 p.E98K 0.042 pfscan_SRCR pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS4 HGNC ENSG00000137648 136 0 0 75 44 36.9748 RNF26 0 genome.wustl.edu 37 11 119207069 119207069 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 119207069 119207069 G A SNP RNF26 ENST00000311413 human ensembl 74_37 +1 known missense c.1237 p.V413I 0.000 pfscan_Znf_RING pfscan_Znf_RING - no_errors RNF26 HGNC ENSG00000173456 114 0 0 69 42 37.8378 OR10G9 0 genome.wustl.edu 37 11 123894243 123894243 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 123894243 123894243 A G SNP OR10G9 ENST00000375024 human ensembl 74_37 +1 known missense c.524 p.H175R 0.534 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G9 HGNC ENSG00000236981 247 0 0 160 50 23.8095 ROBO3 0 genome.wustl.edu 37 11 124738822 124738822 + Silent SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 124738822 124738822 T C SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known silent c.285 p.I95 0.975 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 24 0 0 6 5 45.4545 MUC5B 0 genome.wustl.edu 37 11 1262736 1262736 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 1262736 1262736 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.4635 p.Q1545 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 30 0 0 16 11 40.7407 MUC5B 0 genome.wustl.edu 37 11 1265475 1265475 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 1265475 1265475 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.7374 p.P2458 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 132 0 0 69 35 33.6538 MUC5B 0 genome.wustl.edu 37 11 1271141 1271141 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 1271141 1271141 C A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.13040 p.P4347H 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 157 0 0 107 52 32.7044 NFRKB 0 genome.wustl.edu 37 11 129743720 129743720 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 129743720 129743720 C T SNP NFRKB ENST00000524794 human ensembl 74_37 -1 known missense c.2545 p.A849T 0.300 NULL NULL - no_errors NFRKB HGNC ENSG00000170322 97 0 0 62 36 36.7347 APLP2 0 genome.wustl.edu 37 11 129979402 129979402 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 129979402 129979402 C T SNP APLP2 ENST00000263574 human ensembl 74_37 +1 known missense c.184 p.H62Y 1.000 pfam_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_heparin-bd,smart_Amyloid_glyco_extra pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APLP2 HGNC ENSG00000084234 63 0 0 29 18 38.2979 ADAMTS15 0 genome.wustl.edu 37 11 130319163 130319163 + Nonsense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 130319163 130319163 C T SNP ADAMTS15 ENST00000299164 human ensembl 74_37 +1 known nonsense c.295 p.R99* 1.000 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8 - no_errors ADAMTS15 HGNC ENSG00000166106 119 0 0 82 16 16.3265 NTM 0 genome.wustl.edu 37 11 132082036 132082036 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 132082036 132082036 C T SNP NTM ENST00000539799 human ensembl 74_37 +1 known missense c.521 p.P174L 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NTM HGNC ENSG00000182667 115 0 0 67 14 17.284 ABCC8 0 genome.wustl.edu 37 11 17498278 17498278 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 17498278 17498278 G A SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.46 p.R16W 1.000 prints_Surea_rcpt-1 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 27 0 0 18 8 30.7692 PTPN5 0 genome.wustl.edu 37 11 18763931 18763931 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 18763931 18763931 G A SNP PTPN5 ENST00000358540 human ensembl 74_37 -1 known silent c.603 p.I201 0.003 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN5 HGNC ENSG00000110786 60 0 0 38 19 33.3333 BET1L 0 genome.wustl.edu 37 11 205421 205421 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 205421 205421 G A SNP BET1L ENST00000382762 human ensembl 74_37 -1 known missense c.217 p.R73C 1.000 pfam_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors BET1L HGNC ENSG00000177951 34 0 0 34 17 33.3333 NLRP6 0 genome.wustl.edu 37 11 281297 281297 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 281297 281297 C T SNP NLRP6 ENST00000312165 human ensembl 74_37 +1 known silent c.1563 p.T521 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP6 HGNC ENSG00000174885 61 0 0 55 17 23.6111 ATG13 0 genome.wustl.edu 37 11 46691079 46691079 + Missense_Mutation SNP C C G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 46691079 46691079 C G SNP ATG13 ENST00000312040 human ensembl 74_37 +1 known missense c.1473 p.D491E 1.000 NULL pfam_Autophagy-rel_p13 - no_errors ATG13 HGNC ENSG00000175224 90 0 0 37 26 41.2698 ARHGAP1 0 genome.wustl.edu 37 11 46702070 46702070 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 46702070 46702070 G A SNP ARHGAP1 ENST00000311956 human ensembl 74_37 -1 known missense c.787 p.L263F 0.982 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP1 HGNC ENSG00000175220 76 0 0 48 10 17.2414 LRP4 0 genome.wustl.edu 37 11 46894694 46894694 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 46894694 46894694 G A SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known silent c.4540 p.L1514 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 129 0 0 56 25 30.8642 C11orf35 0 genome.wustl.edu 37 11 555902 555902 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 555902 555902 C T SNP C11orf35 ENST00000329451 human ensembl 74_37 -1 known missense c.1406 p.R469H 0.043 NULL pfam_Lamin_tail_dom - no_errors C11orf35 HGNC ENSG00000185522 57 0 0 23 13 36.1111 OR8H3 0 genome.wustl.edu 37 11 55890155 55890155 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 55890155 55890155 T C SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known missense c.307 p.C103R 0.006 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 484 0 0 212 131 38.1924 OR5R1 0 genome.wustl.edu 37 11 56185040 56185040 + Silent SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 56185040 56185040 G T SNP OR5R1 ENST00000312253 human ensembl 74_37 -1 known silent c.669 p.A223 0.000 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 OR5R1 HGNC ENSG00000174942 69 0 0 83 14 14.433 TRIM6 0 genome.wustl.edu 37 11 5632278 5632278 + Silent SNP T T G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 5632278 5632278 T G SNP TRIM6 ENST00000380097 human ensembl 74_37 +1 known silent c.1257 p.A419 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM6 HGNC ENSG00000121236 134 0 0 79 31 28.1818 DTX4 0 genome.wustl.edu 37 11 58949400 58949400 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 58949400 58949400 G A SNP DTX4 ENST00000227451 human ensembl 74_37 +1 known missense c.400 p.V134I 0.998 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX4 HGNC ENSG00000110042 140 0 0 62 34 35.4167 DTX4 0 genome.wustl.edu 37 11 58949530 58949530 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 58949530 58949530 G A SNP DTX4 ENST00000227451 human ensembl 74_37 +1 known missense c.530 p.S177N 1.000 NULL pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX4 HGNC ENSG00000110042 69 0 0 35 7 16.6667 TMEM132A 0 genome.wustl.edu 37 11 60699530 60699530 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 60699530 60699530 C T SNP TMEM132A ENST00000005286 human ensembl 74_37 +1 known silent c.1290 p.D430 0.026 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 104 1 0.952381 46 30 39.4737 SYT7 0 genome.wustl.edu 37 11 61318905 61318905 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 61318905 61318905 C T SNP SYT7 ENST00000263846 human ensembl 74_37 -1 known missense c.166 p.V56M 0.997 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC ENSG00000011347 124 0 0 72 20 21.7391 C11orf84 0 genome.wustl.edu 37 11 63585422 63585422 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 63585422 63585422 C T SNP C11orf84 ENST00000294244 human ensembl 74_37 +1 known silent c.273 p.C91 1.000 NULL NULL - no_errors C11orf84 HGNC ENSG00000168005 56 0 0 34 12 26.087 TRPT1 0 genome.wustl.edu 37 11 63992188 63992188 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 63992188 63992188 A G SNP TRPT1 ENST00000394546 human ensembl 74_37 -1 known missense c.335 p.V112A 0.987 pfam_Ptrans_KptA/Tpt1 pfam_Ptrans_KptA/Tpt1 - no_errors TRPT1 HGNC ENSG00000149743 73 0 0 46 11 19.2982 NRXN2 0 genome.wustl.edu 37 11 64390507 64390507 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 64390507 64390507 G A SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known silent c.3891 p.I1297 0.387 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 NRXN2 HGNC ENSG00000110076 20 0 0 11 5 31.25 MAP4K2 0 genome.wustl.edu 37 11 64569590 64569590 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 64569590 64569590 G A SNP MAP4K2 ENST00000294066 human ensembl 74_37 -1 known missense c.314 p.T105I 0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K2 HGNC ENSG00000168067 39 0 0 20 5 20 NAALADL1 0 genome.wustl.edu 37 11 64815659 64815659 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 64815659 64815659 G A SNP NAALADL1 ENST00000358658 human ensembl 74_37 -1 known missense c.1313 p.T438M 0.741 pfam_Peptidase_M28 pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALADL1 HGNC ENSG00000168060 188 0 0 134 24 15.1899 MALAT1 0 genome.wustl.edu 37 11 65271397 65271397 + RNA SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 65271397 65271397 T C SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 15 0 0 10 4 28.5714 MALAT1 0 genome.wustl.edu 37 11 65272645 65272645 + RNA SNP T T A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 65272645 65272645 T A SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 54 0 0 41 8 16.3265 LTBP3 0 genome.wustl.edu 37 11 65325120 65325120 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 65325120 65325120 G A SNP LTBP3 ENST00000301873 human ensembl 74_37 -1 known missense c.311 p.T104M 0.999 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 117 0 0 56 37 39.7849 RELA 0 genome.wustl.edu 37 11 65426295 65426295 + Splice_Site SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 65426295 65426295 T C SNP RELA ENST00000406246 human ensembl 74_37 -1 known splice_site c.560-2 e7-2 1.000 - - - no_errors RELA HGNC ENSG00000173039 67 0 0 43 31 41.8919 PITPNM1 0 genome.wustl.edu 37 11 67261407 67261407 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 67261407 67261407 C T SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known silent c.2994 p.V998 1.000 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 17 0 0 14 3 17.6471 PITPNM1 0 genome.wustl.edu 37 11 67267152 67267152 + RNA SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 67267152 67267152 T C SNP PITPNM1 ENST00000525521 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors PITPNM1 HGNC ENSG00000110697 34 0 0 19 8 29.6296 ALDH3B1 0 genome.wustl.edu 37 11 67786680 67786680 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 67786680 67786680 G A SNP ALDH3B1 ENST00000007633 human ensembl 74_37 +1 known missense c.433 p.V145I 0.000 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3B1 HGNC ENSG00000006534 29 0 0 17 8 32 DEAF1 0 genome.wustl.edu 37 11 687963 687963 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 687963 687963 G A SNP DEAF1 ENST00000382409 human ensembl 74_37 -1 known silent c.612 p.P204 0.715 pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom pfam_SAND_dom,pfam_Znf_MYND,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_Znf_MYND,pfscan_SAND_dom - no_errors DEAF1 HGNC ENSG00000177030 63 0 0 35 18 33.9623 P2RY6 0 genome.wustl.edu 37 11 73007933 73007933 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 73007933 73007933 C T SNP P2RY6 ENST00000349767 human ensembl 74_37 +1 known missense c.370 p.R124C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y6_rcpt,prints_GPCR_Rhodpsn,prints_P2Y3_rcpt,prints_Protea_act_rcpt - no_errors P2RY6 HGNC ENSG00000171631 104 0 0 66 29 30.5263 TENM4 0 genome.wustl.edu 37 11 78449536 78449536 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 78449536 78449536 T C SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.2836 p.N946D 0.999 superfamily_CarboxyPept-like_regulatory pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 32 0 0 22 10 31.25 FAT3 0 genome.wustl.edu 37 11 92086841 92086841 + Silent SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 92086841 92086841 T C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.1563 p.I521 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 120 0 0 82 30 26.7857 CCDC82 0 genome.wustl.edu 37 11 96117891 96117891 + Silent SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 96117891 96117891 A G SNP CCDC82 ENST00000278520 human ensembl 74_37 -1 known silent c.21 p.H7 0.973 NULL NULL - no_errors CCDC82 HGNC ENSG00000149231 37 0 0 14 9 39.1304 CNTN5 0 genome.wustl.edu 37 11 99827598 99827598 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 99827598 99827598 G A SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.734 p.R245Q 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 85 0 0 47 20 29.8507 SPIC 0 genome.wustl.edu 37 12 101873423 101873423 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 101873423 101873423 A G SNP SPIC ENST00000299272 human ensembl 74_37 +1 known missense c.161 p.Y54C 0.000 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors SPIC HGNC ENSG00000166211 62 0 0 39 9 18.75 ENSG00000255641 0 genome.wustl.edu 37 12 10587931 10587931 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 10587931 10587931 T C SNP ENSG00000255641 ENST00000539033 human ensembl 74_37 -1 known missense c.266 p.K89R 0.000 pfam_Herpes_UL45-like pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors NKG2-E Uniprot_gn ENSG00000255641 168 0 0 112 28 20 C12orf23 0 genome.wustl.edu 37 12 107365084 107365084 + Missense_Mutation SNP C C G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 107365084 107365084 C G SNP C12orf23 ENST00000280756 human ensembl 74_37 +1 known missense c.266 p.A89G 1.000 NULL NULL - no_errors C12orf23 HGNC ENSG00000151135 97 0 0 58 30 34.0909 FICD 0 genome.wustl.edu 37 12 108913176 108913176 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 108913176 108913176 C T SNP FICD ENST00000552695 human ensembl 74_37 +1 known missense c.1301 p.T434I 0.992 superfamily_Fido pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FICD HGNC ENSG00000198855 67 0 0 30 12 28.5714 KCTD10 0 genome.wustl.edu 37 12 109889532 109889532 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 109889532 109889532 C T SNP KCTD10 ENST00000228495 human ensembl 74_37 -1 known silent c.810 p.A270 0.000 NULL pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD10 HGNC ENSG00000110906 54 0 0 30 15 33.3333 CUX2 0 genome.wustl.edu 37 12 111734323 111734323 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 111734323 111734323 C T SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known silent c.684 p.Y228 0.993 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 29 0 0 16 5 23.8095 HECTD4 0 genome.wustl.edu 37 12 112607396 112607396 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 112607396 112607396 G A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.11603 p.S3868L 0.996 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 63 0 0 43 26 37.6812 MED13L 0 genome.wustl.edu 37 12 116429481 116429481 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 116429481 116429481 T C SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.3278 p.N1093S 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 49 0 0 24 17 41.4634 RNFT2 0 genome.wustl.edu 37 12 117187926 117187926 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 117187926 117187926 C T SNP RNFT2 ENST00000257575 human ensembl 74_37 +1 known missense c.364 p.R122C 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNFT2 HGNC ENSG00000135119 17 0 0 7 5 41.6667 WDR66 0 genome.wustl.edu 37 12 122396297 122396297 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 122396297 122396297 A G SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known missense c.1850 p.Y617C 0.270 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 206 0 0 103 55 34.8101 ZCCHC8 0 genome.wustl.edu 37 12 122958509 122958509 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 122958509 122958509 G A SNP ZCCHC8 ENST00000336229 human ensembl 74_37 -1 known silent c.1659 p.S553 0.116 NULL pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ENSG00000033030 289 0 0 156 68 30.3571 KNTC1 0 genome.wustl.edu 37 12 123060345 123060345 + Splice_Site SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 123060345 123060345 A G SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known splice_site c.2487-2 e28-2 0.993 - - - no_errors KNTC1 HGNC ENSG00000184445 20 0 0 15 3 16.6667 PITPNM2 0 genome.wustl.edu 37 12 123470761 123470761 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 123470761 123470761 C T SNP PITPNM2 ENST00000320201 human ensembl 74_37 -1 known missense c.3863 p.R1288H 1.000 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 10 0 0 5 3 37.5 EP400 0 genome.wustl.edu 37 12 132445499 132445499 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 132445499 132445499 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.335 p.R112Q 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 24 0 0 17 7 29.1667 GOLGA3 0 genome.wustl.edu 37 12 133349748 133349748 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 133349748 133349748 G A SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known silent c.4440 p.R1480 0.001 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 14 0 0 2 3 60 LMO3 0 genome.wustl.edu 37 12 16753644 16753644 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 16753644 16753644 C A SNP LMO3 ENST00000541295 human ensembl 74_37 -1 known missense c.205 p.G69C 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO3 HGNC ENSG00000048540 92 0 0 74 7 8.64198 KRAS 0 genome.wustl.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 25398281 25398281 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.38 p.G13D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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 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 KRAS HGNC ENSG00000133703 29 0 0 14 3 17.6471 TMTC1 0 genome.wustl.edu 37 12 29709910 29709910 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 29709910 29709910 G A SNP TMTC1 ENST00000256062 human ensembl 74_37 -1 known missense c.1232 p.A411V 1.000 pfam_PIK-rel_kinase_FAT,smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 92 0 0 30 29 49.1525 KMT2D 0 genome.wustl.edu 37 12 49420859 49420859 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 49420859 49420859 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.14890 p.R4964C 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 146 0 0 67 26 27.957 AAAS 0 genome.wustl.edu 37 12 53701365 53701365 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 53701365 53701365 G T SNP AAAS ENST00000209873 human ensembl 74_37 -1 known missense c.1549 p.L517I 1.000 NULL pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAAS HGNC ENSG00000094914 91 0 0 51 31 37.8049 ZBTB39 0 genome.wustl.edu 37 12 57397071 57397071 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 57397071 57397071 C T SNP ZBTB39 ENST00000300101 human ensembl 74_37 -1 known missense c.1631 p.S544N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB39 HGNC ENSG00000166860 34 0 0 25 8 24.2424 GLI1 0 genome.wustl.edu 37 12 57859007 57859007 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 57859007 57859007 C A SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known missense c.503 p.P168H 0.986 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 48 0 0 25 12 32.4324 AVIL 0 genome.wustl.edu 37 12 58202264 58202264 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 58202264 58202264 G A SNP AVIL ENST00000257861 human ensembl 74_37 -1 known missense c.1007 p.S336L 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors AVIL HGNC ENSG00000135407 47 0 0 39 24 38.0952 TNFRSF1A 0 genome.wustl.edu 37 12 6438696 6438696 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 6438696 6438696 C T SNP TNFRSF1A ENST00000162749 human ensembl 74_37 -1 known missense c.1150 p.E384K 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain,prints_TNFR_1A pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1A - no_errors TNFRSF1A HGNC ENSG00000067182 24 0 0 16 11 40.7407 XPOT 0 genome.wustl.edu 37 12 64808688 64808688 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 64808688 64808688 C T SNP XPOT ENST00000332707 human ensembl 74_37 +1 known missense c.62 p.A21V 1.000 superfamily_ARM-type_fold,smart_Importin-beta_N pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 83 0 0 69 7 9.21053 LPAR5 0 genome.wustl.edu 37 12 6730002 6730002 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 6730002 6730002 G A SNP LPAR5 ENST00000329858 human ensembl 74_37 -1 known missense c.413 p.A138V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors LPAR5 HGNC ENSG00000184574 10 0 0 4 3 42.8571 USP5 0 genome.wustl.edu 37 12 6964600 6964600 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 6964600 6964600 G A SNP USP5 ENST00000229268 human ensembl 74_37 +1 known silent c.147 p.T49 0.170 pirsf_Ubiquitinyl_hydrolase pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP5 HGNC ENSG00000111667 248 0 0 137 59 30.102 PTPRR 0 genome.wustl.edu 37 12 71155319 71155319 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 71155319 71155319 G A SNP PTPRR ENST00000283228 human ensembl 74_37 -1 known missense c.559 p.R187C 0.951 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 126 1 0.787402 79 37 31.8966 NAV3 0 genome.wustl.edu 37 12 78571062 78571062 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 78571062 78571062 G T SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.5266 p.A1756S 0.000 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 139 0 0 72 39 35.1351 LUM 0 genome.wustl.edu 37 12 91502483 91502483 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 91502483 91502483 G T SNP LUM ENST00000266718 human ensembl 74_37 -1 known missense c.274 p.L92M 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LUM HGNC ENSG00000139329 69 0 0 35 23 39.6552 A2M 0 genome.wustl.edu 37 12 9268558 9268558 + RNA SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 9268558 9268558 C T SNP A2M ENST00000467091 human ensembl 74_37 -1 known rna NULL NULL 0.986 - - - no_errors A2M HGNC ENSG00000175899 12 0 0 8 5 38.4615 WNK1 0 genome.wustl.edu 37 12 993365 993365 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 993365 993365 G T SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.5294 p.R1765L 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 156 0 0 77 41 34.7458 ANKS1B 0 genome.wustl.edu 37 12 99837512 99837512 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 99837512 99837512 T C SNP ANKS1B ENST00000329257 human ensembl 74_37 -1 known missense c.1514 p.D505G 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC ENSG00000185046 92 0 0 60 20 25 NALCN 0 genome.wustl.edu 37 13 102029266 102029266 + Splice_Site SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 13 102029266 102029266 A G SNP NALCN ENST00000251127 human ensembl 74_37 -1 known splice_site c.515+2 e4+2 1.000 - - - no_errors NALCN HGNC ENSG00000102452 70 0 0 42 16 27.5862 FAM155A 0 genome.wustl.edu 37 13 108518356 108518356 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 13 108518356 108518356 G A SNP FAM155A ENST00000375915 human ensembl 74_37 -1 known missense c.589 p.R197W 1.000 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 164 1 0.606061 88 62 41.3333 LAMP1 0 genome.wustl.edu 37 13 113960868 113960868 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 13 113960868 113960868 G A SNP LAMP1 ENST00000332556 human ensembl 74_37 +1 known missense c.130 p.A44T 1.000 NULL pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP1 HGNC ENSG00000185896 109 0 0 73 27 27 XPO4 0 genome.wustl.edu 37 13 21417957 21417957 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 13 21417957 21417957 G A SNP XPO4 ENST00000255305 human ensembl 74_37 -1 known silent c.525 p.N175 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 59 0 0 34 18 34.6154 SACS 0 genome.wustl.edu 37 13 23906391 23906391 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 13 23906391 23906391 C T SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.11624 p.R3875H 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 200 0 0 115 43 27.2152 SHISA2 0 genome.wustl.edu 37 13 26620736 26620736 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 13 26620736 26620736 C T SNP SHISA2 ENST00000319420 human ensembl 74_37 -1 known missense c.803 p.G268D 0.842 NULL NULL - no_errors SHISA2 HGNC ENSG00000180730 95 0 0 55 29 34.5238 RNF6 0 genome.wustl.edu 37 13 26788460 26788460 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 13 26788460 26788460 A G SNP RNF6 ENST00000346166 human ensembl 74_37 -1 known missense c.1559 p.L520P 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 90 0 0 79 40 33.6134 FLT3 0 genome.wustl.edu 37 13 28578289 28578289 + Missense_Mutation SNP C C G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 13 28578289 28578289 C G SNP FLT3 ENST00000380982 human ensembl 74_37 -1 known missense c.2891 p.R964P 0.001 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FLT3 HGNC ENSG00000122025 54 0 0 38 8 17.3913 SPG20 0 genome.wustl.edu 37 13 36905729 36905729 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 13 36905729 36905729 C A SNP SPG20 ENST00000355182 human ensembl 74_37 -1 known missense c.815 p.C272F 1.000 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 47 0 0 33 14 29.7872 ENOX1 0 genome.wustl.edu 37 13 43788214 43788214 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 13 43788214 43788214 C T SNP ENOX1 ENST00000261488 human ensembl 74_37 -1 known missense c.1844 p.R615H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 101 0 0 75 30 28.5714 FAM124A 0 genome.wustl.edu 37 13 51825626 51825626 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 13 51825626 51825626 G A SNP FAM124A ENST00000280057 human ensembl 74_37 +1 known silent c.231 p.A77 0.429 NULL NULL - no_errors FAM124A HGNC ENSG00000150510 75 0 0 38 17 30.9091 TBC1D4 0 genome.wustl.edu 37 13 75863191 75863191 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 13 75863191 75863191 A G SNP TBC1D4 ENST00000377636 human ensembl 74_37 -1 known missense c.3542 p.V1181A 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 98 0 0 58 32 35.5556 HSP90AA1 0 genome.wustl.edu 37 14 102551762 102551762 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 102551762 102551762 G T SNP HSP90AA1 ENST00000334701 human ensembl 74_37 -1 known missense c.902 p.P301H 0.998 pirsf_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC ENSG00000080824 42 0 0 27 8 22.8571 AKT1 0 genome.wustl.edu 37 14 105239379 105239379 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 105239379 105239379 G A SNP AKT1 ENST00000349310 human ensembl 74_37 -1 known silent c.1008 p.G336 0.976 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_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT1 HGNC ENSG00000142208 105 0 0 46 35 43.2099 CEP170B 0 genome.wustl.edu 37 14 105344265 105344265 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 105344265 105344265 C T SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known missense c.239 p.T80M 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 15 0 0 4 3 42.8571 PACS2 0 genome.wustl.edu 37 14 105851250 105851250 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 105851250 105851250 G A SNP PACS2 ENST00000458164 human ensembl 74_37 +1 known silent c.1926 p.T642 0.003 pfam_Phosphofurin_acidic_CS-1 pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 12 0 0 5 2 28.5714 OR4K17 0 genome.wustl.edu 37 14 20586464 20586464 + Missense_Mutation SNP A A C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 20586464 20586464 A C SNP OR4K17 ENST00000315543 human ensembl 74_37 +1 known missense c.899 p.K300T 0.012 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K17 HGNC ENSG00000176230 54 0 0 48 15 23.8095 METTL17 0 genome.wustl.edu 37 14 21458721 21458721 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 21458721 21458721 G A SNP METTL17 ENST00000382985 human ensembl 74_37 +1 known missense c.328 p.A110T 0.937 NULL pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11 - no_errors METTL17 HGNC ENSG00000165792 68 0 0 42 28 40 CHD8 0 genome.wustl.edu 37 14 21897486 21897486 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 21897486 21897486 C T SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known silent c.852 p.S284 0.563 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 50 0 0 18 15 45.4545 ABHD4 0 genome.wustl.edu 37 14 23072850 23072850 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 23072850 23072850 T C SNP ABHD4 ENST00000428304 human ensembl 74_37 +1 known missense c.506 p.V169A 1.000 pfam_AB_hydrolase_1,prints_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_AB_hydrolase_1 - no_errors ABHD4 HGNC ENSG00000100439 148 1 0.671141 75 33 30.5556 AJUBA 0 genome.wustl.edu 37 14 23451381 23451381 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 23451381 23451381 C A SNP AJUBA ENST00000262713 human ensembl 74_37 -1 known missense c.95 p.G32V 0.505 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors AJUBA HGNC ENSG00000129474 64 0 0 40 25 38.4615 MYH6 0 genome.wustl.edu 37 14 23859422 23859422 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 23859422 23859422 C T SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known silent c.3576 p.A1192 0.006 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 18 0 0 18 12 40 DCAF11 0 genome.wustl.edu 37 14 24590651 24590651 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 24590651 24590651 C T SNP DCAF11 ENST00000446197 human ensembl 74_37 +1 known missense c.1324 p.R442C 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors DCAF11 HGNC ENSG00000100897 88 0 0 52 28 35 NOVA1 0 genome.wustl.edu 37 14 26917657 26917657 + Silent SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 26917657 26917657 A G SNP NOVA1 ENST00000539517 human ensembl 74_37 -1 known silent c.1032 p.A344 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 30 0 0 20 11 35.4839 RALGAPA1 0 genome.wustl.edu 37 14 36197626 36197626 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 36197626 36197626 G A SNP RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known missense c.1678 p.R560C 1.000 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 32 0 0 15 15 50 NKX2-1 0 genome.wustl.edu 37 14 36987121 36987121 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 36987121 36987121 G T SNP NKX2-1 ENST00000354822 human ensembl 74_37 -1 known missense c.568 p.P190T 1.000 superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-1 HGNC ENSG00000136352 25 0 0 14 7 33.3333 NKX2-8 0 genome.wustl.edu 37 14 37051465 37051465 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 37051465 37051465 G A SNP NKX2-8 ENST00000258829 human ensembl 74_37 -1 known silent c.130 p.L44 0.992 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-8 HGNC ENSG00000136327 28 0 0 16 4 20 FOXA1 0 genome.wustl.edu 37 14 38061521 38061521 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 38061521 38061521 G A SNP FOXA1 ENST00000250448 human ensembl 74_37 -1 known silent c.468 p.G156 0.425 pfam_Fork-head_N pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA1 HGNC ENSG00000129514 61 0 0 33 22 40 LRFN5 0 genome.wustl.edu 37 14 42355997 42355997 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 42355997 42355997 C T SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.169 p.R57W 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 48 0 0 27 16 37.2093 LRFN5 0 genome.wustl.edu 37 14 42360596 42360596 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 42360596 42360596 C T SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.1529 p.T510M 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 223 0 0 114 53 31.7365 JKAMP 0 genome.wustl.edu 37 14 59961785 59961785 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 59961785 59961785 G A SNP JKAMP ENST00000356057 human ensembl 74_37 +1 known missense c.325 p.A109T 1.000 pfam_DUF766 pfam_DUF766 - no_errors JKAMP HGNC ENSG00000050130 28 0 0 25 5 16.6667 RTN1 0 genome.wustl.edu 37 14 60097226 60097226 + RNA SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 60097226 60097226 G A SNP RTN1 ENST00000557422 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors RTN1 HGNC ENSG00000139970 190 0 0 109 61 35.8824 EIF2S1 0 genome.wustl.edu 37 14 67843159 67843159 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 67843159 67843159 T C SNP EIF2S1 ENST00000256383 human ensembl 74_37 +1 known missense c.325 p.Y109H 1.000 superfamily_TIF2_asu_middle pfam_TIF_2_asu,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_TIF2_asu_C,superfamily_TIF2_asu_middle,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors EIF2S1 HGNC ENSG00000134001 30 0 0 19 11 36.6667 SLC8A3 0 genome.wustl.edu 37 14 70512799 70512799 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 70512799 70512799 C T SNP SLC8A3 ENST00000381269 human ensembl 74_37 -1 known silent c.2649 p.R883 1.000 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 32 0 0 27 10 27.027 HEATR4 0 genome.wustl.edu 37 14 73976045 73976045 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 73976045 73976045 C A SNP HEATR4 ENST00000334988 human ensembl 74_37 -1 known missense c.1691 p.R564L 0.049 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 92 0 0 40 19 32.2034 VRTN 0 genome.wustl.edu 37 14 74825385 74825385 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 74825385 74825385 G A SNP VRTN ENST00000256362 human ensembl 74_37 +1 known silent c.1899 p.A633 0.001 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 69 0 0 22 10 31.25 ALKBH1 0 genome.wustl.edu 37 14 78140528 78140528 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 78140528 78140528 G A SNP ALKBH1 ENST00000216489 human ensembl 74_37 -1 known missense c.797 p.T266M 0.999 tigrfam_Alkb tigrfam_Alkb - no_errors ALKBH1 HGNC ENSG00000100601 44 0 0 24 15 38.4615 FLRT2 0 genome.wustl.edu 37 14 86089608 86089608 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 86089608 86089608 C T SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.1750 p.R584W 1.000 NULL pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 170 1 0.584795 97 48 33.1034 EML5 0 genome.wustl.edu 37 14 89153595 89153595 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 89153595 89153595 G A SNP EML5 ENST00000554922 human ensembl 74_37 -1 known missense c.2819 p.A940V 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 18 0 0 7 5 41.6667 SMEK1 0 genome.wustl.edu 37 14 91942831 91942831 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 91942831 91942831 G A SNP SMEK1 ENST00000554943 human ensembl 74_37 -1 known missense c.1031 p.T344M 1.000 pfam_DUF625,superfamily_ARM-type_fold pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC ENSG00000100796 78 0 0 28 19 40.4255 LINC00521 0 genome.wustl.edu 37 14 94467624 94467624 + RNA SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 94467624 94467624 C A SNP LINC00521 ENST00000314629 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors LINC00521 HGNC ENSG00000175699 63 0 0 27 12 30.7692 ATG2B 0 genome.wustl.edu 37 14 96797724 96797724 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 96797724 96797724 G A SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known silent c.1719 p.H573 0.989 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 73 0 0 59 6 9.23077 ADAMTS17 0 genome.wustl.edu 37 15 100692871 100692871 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 100692871 100692871 G A SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known silent c.1419 p.N473 0.825 smart_ADAM_Cys-rich pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 117 0 0 90 8 8.16327 CHEK2P2 0 genome.wustl.edu 37 15 20495387 20495387 + RNA SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 20495387 20495387 T C SNP CHEK2P2 ENST00000555186 human ensembl 74_37 +1 known rna NULL NULL 0.783 - - - no_errors CHEK2P2 HGNC ENSG00000259156 231 0 0 142 10 6.57895 HERC2P3 0 genome.wustl.edu 37 15 20651283 20651283 + RNA SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 20651283 20651283 G A SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors HERC2P3 HGNC ENSG00000180229 202 0 0 121 19 13.5714 OR4M2 0 genome.wustl.edu 37 15 22368585 22368585 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 22368585 22368585 G A SNP OR4M2 ENST00000332663 human ensembl 74_37 +1 putative missense c.10 p.A4T 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M2 HGNC ENSG00000182974 312 0 0 235 35 12.963 OR4N4 0 genome.wustl.edu 37 15 22382692 22382692 + Missense_Mutation SNP T T G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 22382692 22382692 T G SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known missense c.220 p.S74A 0.280 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 OR4N4 HGNC ENSG00000183706 545 0 0 388 56 12.6126 HERC2P2 0 genome.wustl.edu 37 15 23311733 23311733 + RNA SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 23311733 23311733 G A SNP HERC2P2 ENST00000560464 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P2 HGNC ENSG00000140181 73 0 0 41 18 30.5085 GOLGA8EP 0 genome.wustl.edu 37 15 23443516 23443516 + RNA SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 23443516 23443516 C A SNP GOLGA8EP ENST00000526079 human ensembl 74_37 +1 known rna NULL NULL 0.108 - - - no_errors GOLGA8EP HGNC ENSG00000175676 15 0 0 4 6 60 SNORD116-7 0 genome.wustl.edu 37 15 25313004 25313004 + RNA SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 25313004 25313004 C T SNP SNORD116-7 ENST00000384404 human ensembl 74_37 +1 known rna NULL NULL 0.019 - - - no_errors SNORD116-7 HGNC ENSG00000207133 179 0 0 68 37 35.2381 SNORD116-15 0 genome.wustl.edu 37 15 25326502 25326502 + RNA SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 25326502 25326502 G A SNP SNORD116-15 ENST00000384445 human ensembl 74_37 +1 known rna NULL NULL 0.020 - - - no_errors SNORD116-15 HGNC ENSG00000207174 207 0 0 86 57 39.8601 SNHG14 0 genome.wustl.edu 37 15 25425501 25425501 + RNA SNP G G C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 25425501 25425501 G C SNP SNHG14 ENST00000441592 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNHG14 HGNC ENSG00000224078 33 0 0 27 11 28.9474 LOC101929232 0 genome.wustl.edu 37 15 29078500 29078500 + RNA SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 29078500 29078500 C T SNP LOC101929232 ENST00000563144 human ensembl 74_37 +1 putative rna NULL NULL 0.935 - - - no_errors RP11-578F21.12 Clone_based_vega_gene ENSG00000261377 24 0 0 25 13 34.2105 RYR3 0 genome.wustl.edu 37 15 33873717 33873717 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 33873717 33873717 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.1446 p.L482 0.998 pfam_Ca-rel_channel pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 102 0 0 58 19 24.6753 RYR3 0 genome.wustl.edu 37 15 33893731 33893731 + Nonsense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 33893731 33893731 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known nonsense c.1900 p.R634* 0.977 pfam_Ca-rel_channel,pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 30 0 0 16 12 42.8571 NUTM1 0 genome.wustl.edu 37 15 34649312 34649312 + Nonsense_Mutation SNP A A T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 34649312 34649312 A T SNP NUTM1 ENST00000333756 human ensembl 74_37 +1 known nonsense c.3019 p.K1007* 0.000 NULL NULL - no_errors NUTM1 HGNC ENSG00000184507 52 0 0 38 13 25.4902 NUTM1 0 genome.wustl.edu 37 15 34649327 34649327 + Missense_Mutation SNP G G C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 34649327 34649327 G C SNP NUTM1 ENST00000333756 human ensembl 74_37 +1 known missense c.3034 p.E1012Q 0.255 NULL NULL - no_errors NUTM1 HGNC ENSG00000184507 59 0 0 42 18 30 KNSTRN 0 genome.wustl.edu 37 15 40678643 40678643 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 40678643 40678643 G A SNP KNSTRN ENST00000249776 human ensembl 74_37 +1 known missense c.385 p.G129R 0.030 NULL NULL - no_errors KNSTRN HGNC ENSG00000128944 52 0 0 33 14 29.7872 NUSAP1 0 genome.wustl.edu 37 15 41667943 41667943 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 41667943 41667943 C T SNP NUSAP1 ENST00000559596 human ensembl 74_37 +1 known missense c.1040 p.T347M 0.000 NULL NULL - no_errors NUSAP1 HGNC ENSG00000137804 80 0 0 34 18 34.6154 PLA2G4D 0 genome.wustl.edu 37 15 42377688 42377688 + Splice_Site SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 42377688 42377688 C T SNP PLA2G4D ENST00000290472 human ensembl 74_37 -1 known splice_site c.428+1 e5+1 0.984 - - - no_errors PLA2G4D HGNC ENSG00000159337 130 0 0 53 29 35.3659 SLC24A5 0 genome.wustl.edu 37 15 48413289 48413289 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 48413289 48413289 C T SNP SLC24A5 ENST00000341459 human ensembl 74_37 +1 known silent c.48 p.L16 0.000 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A5 HGNC ENSG00000188467 47 0 0 21 8 27.5862 TMOD2 0 genome.wustl.edu 37 15 52075001 52075001 + Silent SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 52075001 52075001 T C SNP TMOD2 ENST00000249700 human ensembl 74_37 +1 known silent c.708 p.T236 0.998 NULL pfam_Tropomodulin - no_errors TMOD2 HGNC ENSG00000128872 157 0 0 87 52 37.4101 RFX7 0 genome.wustl.edu 37 15 56436614 56436614 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 56436614 56436614 C T SNP RFX7 ENST00000423270 human ensembl 74_37 -1 known missense c.263 p.S88N 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 94 0 0 42 21 33.3333 PARP16 0 genome.wustl.edu 37 15 65555515 65555515 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 65555515 65555515 C T SNP PARP16 ENST00000261888 human ensembl 74_37 -1 known silent c.663 p.P221 0.700 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP16 HGNC ENSG00000138617 41 0 0 18 13 41.9355 STOML1 0 genome.wustl.edu 37 15 74277088 74277088 + Silent SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 74277088 74277088 G T SNP STOML1 ENST00000316900 human ensembl 74_37 -1 known silent c.915 p.A305 0.989 pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom pfam_Band_7,pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom,smart_Band_7,prints_Stomatin - no_errors STOML1 HGNC ENSG00000067221 63 0 0 43 27 38.5714 CYP1A1 0 genome.wustl.edu 37 15 75013634 75013634 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 75013634 75013634 G A SNP CYP1A1 ENST00000379727 human ensembl 74_37 -1 known missense c.1072 p.R358W 0.195 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A1 HGNC ENSG00000140465 106 0 0 57 27 32.1429 CIB2 0 genome.wustl.edu 37 15 78401674 78401674 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 78401674 78401674 C A SNP CIB2 ENST00000258930 human ensembl 74_37 -1 known missense c.249 p.E83D 0.812 pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CIB2 HGNC ENSG00000136425 84 0 0 45 24 34.7826 CHRNB4 0 genome.wustl.edu 37 15 78927807 78927807 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 78927807 78927807 G A SNP CHRNB4 ENST00000261751 human ensembl 74_37 -1 known missense c.178 p.L60F 0.999 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,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 CHRNB4 HGNC ENSG00000117971 133 0 0 73 38 34.2342 ADAMTS7 0 genome.wustl.edu 37 15 79092719 79092719 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 79092719 79092719 G A SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known silent c.271 p.L91 0.996 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 21 0 0 24 5 17.2414 MEX3B 0 genome.wustl.edu 37 15 82336037 82336037 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 82336037 82336037 C T SNP MEX3B ENST00000329713 human ensembl 74_37 -1 known missense c.1174 p.V392I 0.007 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC ENSG00000183496 28 0 0 14 12 46.1538 SH3GL3 0 genome.wustl.edu 37 15 84245409 84245409 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 84245409 84245409 C T SNP SH3GL3 ENST00000324537 human ensembl 74_37 +1 known silent c.564 p.D188 0.545 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors SH3GL3 HGNC ENSG00000140600 61 0 0 27 16 37.2093 ADAMTSL3 0 genome.wustl.edu 37 15 84373227 84373227 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 84373227 84373227 G A SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known silent c.156 p.G52 0.997 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 206 0 0 109 55 33.5366 ADAMTSL3 0 genome.wustl.edu 37 15 84657541 84657541 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 84657541 84657541 A G SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known missense c.3815 p.D1272G 0.207 smart_Ig_sub,pfscan_Ig-like_dom pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 89 0 0 51 12 19.0476 ALPK3 0 genome.wustl.edu 37 15 85400994 85400994 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 85400994 85400994 C T SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known missense c.3631 p.R1211W 0.440 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 69 0 0 42 18 30 MRPS11 0 genome.wustl.edu 37 15 89020237 89020237 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 89020237 89020237 C T SNP MRPS11 ENST00000325844 human ensembl 74_37 +1 known silent c.429 p.G143 0.006 pfam_Ribosomal_S11 pfam_Ribosomal_S11 - no_errors MRPS11 HGNC ENSG00000181991 51 0 0 14 8 36.3636 CRTC3 0 genome.wustl.edu 37 15 91172715 91172715 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 91172715 91172715 G A SNP CRTC3 ENST00000268184 human ensembl 74_37 +1 known missense c.1217 p.S406N 1.000 NULL NULL - no_errors CRTC3 HGNC ENSG00000140577 162 1 0.613497 102 55 35.0318 MCTP2 0 genome.wustl.edu 37 15 94858782 94858782 + Silent SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 94858782 94858782 T C SNP MCTP2 ENST00000357742 human ensembl 74_37 +1 known silent c.553 p.L185 0.007 superfamily_C2_dom pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors MCTP2 HGNC ENSG00000140563 51 0 0 24 8 25 IGF1R 0 genome.wustl.edu 37 15 99442794 99442794 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 99442794 99442794 C T SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known silent c.1191 p.V397 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 136 0 0 59 29 32.9545 LRRC28 0 genome.wustl.edu 37 15 99926275 99926275 + Nonsense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 99926275 99926275 C T SNP LRRC28 ENST00000301981 human ensembl 74_37 +1 known nonsense c.1072 p.Q358* 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC28 HGNC ENSG00000168904 473 0 0 247 94 27.566 TXNDC11 0 genome.wustl.edu 37 16 11781746 11781746 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 11781746 11781746 C T SNP TXNDC11 ENST00000356957 human ensembl 74_37 -1 known missense c.2201 p.R734Q 0.992 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC ENSG00000153066 44 0 0 31 8 20.5128 BAIAP3 0 genome.wustl.edu 37 16 1392008 1392008 + Silent SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 1392008 1392008 C A SNP BAIAP3 ENST00000324385 human ensembl 74_37 +1 known silent c.903 p.S301 0.991 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors BAIAP3 HGNC ENSG00000007516 51 0 0 35 17 32.6923 PRKCB 0 genome.wustl.edu 37 16 24046762 24046762 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 24046762 24046762 G A SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known silent c.423 p.K141 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 97 0 0 46 32 41.0256 CCNF 0 genome.wustl.edu 37 16 2506911 2506911 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 2506911 2506911 C T SNP CCNF ENST00000397066 human ensembl 74_37 +1 known missense c.2251 p.R751C 0.687 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom - no_errors CCNF HGNC ENSG00000162063 96 0 0 47 27 36.4865 IL21R 0 genome.wustl.edu 37 16 27441397 27441397 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 27441397 27441397 C T SNP IL21R ENST00000337929 human ensembl 74_37 +1 known missense c.5 p.P2L 0.000 NULL superfamily_Fibronectin_type3 - no_errors IL21R HGNC ENSG00000103522 28 0 0 14 3 17.6471 SNX29P2 0 genome.wustl.edu 37 16 29376325 29376325 + RNA SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 29376325 29376325 G A SNP SNX29P2 ENST00000356328 human ensembl 74_37 +1 known rna NULL NULL 0.800 - - - no_errors SNX29P2 HGNC ENSG00000198106 26 0 0 27 10 27.027 ZNF688 0 genome.wustl.edu 37 16 30581665 30581665 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 30581665 30581665 G A SNP ZNF688 ENST00000223459 human ensembl 74_37 -1 known silent c.403 p.L135 0.000 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF688 HGNC ENSG00000229809 51 0 0 32 20 38.4615 ZNF646 0 genome.wustl.edu 37 16 31091327 31091327 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 31091327 31091327 G A SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.3682 p.G1228S 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 37 0 0 32 12 27.2727 TGFB1I1 0 genome.wustl.edu 37 16 31485172 31485172 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 31485172 31485172 C T SNP TGFB1I1 ENST00000394863 human ensembl 74_37 +1 known missense c.199 p.R67W 1.000 pirsf_Leupaxin pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors TGFB1I1 HGNC ENSG00000140682 147 1 0.675676 95 26 21.4876 ENSG00000259966 0 genome.wustl.edu 37 16 32617037 32617037 + Splice_Site SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 32617037 32617037 T C SNP ENSG00000259966 ENST00000562976 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.000 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000259966 50 0 0 15 31 67.3913 LINC00273 0 genome.wustl.edu 37 16 33961713 33961713 + RNA SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 33961713 33961713 C T SNP LINC00273 ENST00000539813 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors LINC00273 HGNC ENSG00000256642 16 0 0 13 4 23.5294 AXIN1 0 genome.wustl.edu 37 16 396381 396381 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 396381 396381 C T SNP AXIN1 ENST00000262320 human ensembl 74_37 -1 known silent c.645 p.S215 0.854 superfamily_Regulat_G_prot_signal_superfam pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN1 HGNC ENSG00000103126 119 0 0 49 39 44.3182 ADCY9 0 genome.wustl.edu 37 16 4164837 4164837 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 4164837 4164837 C T SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known missense c.607 p.D203N 0.995 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 74 0 0 51 33 39.2857 GLIS2 0 genome.wustl.edu 37 16 4386992 4386992 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 4386992 4386992 G A SNP GLIS2 ENST00000262366 human ensembl 74_37 +1 known missense c.1042 p.V348I 0.995 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC ENSG00000126603 18 0 0 8 7 46.6667 KATNB1 0 genome.wustl.edu 37 16 57789031 57789031 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 57789031 57789031 C T SNP KATNB1 ENST00000379661 human ensembl 74_37 +1 known silent c.1297 p.L433 0.118 NULL 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 KATNB1 HGNC ENSG00000140854 48 0 0 37 13 26 KIFC3 0 genome.wustl.edu 37 16 57798091 57798091 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 57798091 57798091 G A SNP KIFC3 ENST00000379655 human ensembl 74_37 -1 known silent c.1581 p.Y527 0.024 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC3 HGNC ENSG00000140859 59 0 0 33 23 41.0714 CDH16 0 genome.wustl.edu 37 16 66949216 66949216 + Nonsense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 66949216 66949216 G A SNP CDH16 ENST00000299752 human ensembl 74_37 -1 known nonsense c.490 p.R164* 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 71 0 0 38 25 39.6825 TERF2 0 genome.wustl.edu 37 16 69400774 69400774 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 69400774 69400774 C T SNP TERF2 ENST00000254942 human ensembl 74_37 -1 known missense c.1276 p.A426T 0.000 pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF2 HGNC ENSG00000132604 40 0 0 30 12 28.5714 WDR90 0 genome.wustl.edu 37 16 700674 700674 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 700674 700674 G T SNP WDR90 ENST00000549091 human ensembl 74_37 +1 novel missense c.524 p.R175M 0.965 pfam_DUF667 pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 78 0 0 29 22 43.1373 HYDIN 0 genome.wustl.edu 37 16 70841641 70841641 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 70841641 70841641 G A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.15208 p.R5070W 0.992 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 128 0 0 70 38 35.1852 TAT 0 genome.wustl.edu 37 16 71602123 71602123 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 71602123 71602123 G A SNP TAT ENST00000355962 human ensembl 74_37 -1 known missense c.1289 p.A430V 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase - no_errors TAT HGNC ENSG00000198650 66 0 0 28 26 48.1481 GLG1 0 genome.wustl.edu 37 16 74496029 74496029 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 74496029 74496029 C T SNP GLG1 ENST00000205061 human ensembl 74_37 -1 known missense c.2999 p.R1000H 1.000 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 80 0 0 40 11 21.5686 GLG1 0 genome.wustl.edu 37 16 74519764 74519764 + Nonsense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 74519764 74519764 G A SNP GLG1 ENST00000205061 human ensembl 74_37 -1 known nonsense c.1501 p.R501* 1.000 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 92 0 0 62 40 39.2157 HAGHL 0 genome.wustl.edu 37 16 784610 784610 + RNA SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 784610 784610 A G SNP HAGHL ENST00000569604 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors HAGHL HGNC ENSG00000103253 50 0 0 20 10 33.3333 TAF1C 0 genome.wustl.edu 37 16 84215812 84215812 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 84215812 84215812 C T SNP TAF1C ENST00000378541 human ensembl 74_37 -1 known silent c.717 p.R239 0.010 NULL superfamily_WD40_repeat_dom - no_errors TAF1C HGNC ENSG00000103168 74 0 0 33 25 43.1034 KCNG4 0 genome.wustl.edu 37 16 84256129 84256129 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 84256129 84256129 C T SNP KCNG4 ENST00000308251 human ensembl 74_37 -1 known silent c.1254 p.T418 0.625 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG4 HGNC ENSG00000168418 82 0 0 44 12 21.4286 CHTF18 0 genome.wustl.edu 37 16 844043 844043 + RNA SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 844043 844043 C A SNP CHTF18 ENST00000461268 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CHTF18 HGNC ENSG00000127586 70 0 0 39 24 38.0952 SPG7 0 genome.wustl.edu 37 16 89623525 89623525 + RNA SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 89623525 89623525 C T SNP SPG7 ENST00000565891 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPG7 HGNC ENSG00000197912 20 0 0 16 5 23.8095 TUBB3 0 genome.wustl.edu 37 16 90001915 90001915 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 90001915 90001915 C T SNP TUBB3 ENST00000315491 human ensembl 74_37 +1 known silent c.1056 p.A352 0.949 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB3 Uniprot_gn ENSG00000258947 248 0 0 137 77 35.9813 MYH3 0 genome.wustl.edu 37 17 10538325 10538325 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 10538325 10538325 C T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known silent c.4188 p.Q1396 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 121 0 0 47 22 31.8841 MYH3 0 genome.wustl.edu 37 17 10541627 10541627 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 10541627 10541627 C T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known silent c.3462 p.A1154 0.012 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 75 0 0 37 24 39.3443 ELAC2 0 genome.wustl.edu 37 17 12897751 12897751 + Missense_Mutation SNP T T G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 12897751 12897751 T G SNP ELAC2 ENST00000338034 human ensembl 74_37 -1 known missense c.2099 p.K700T 1.000 NULL pfam_Beta-lactamas-like - no_errors ELAC2 HGNC ENSG00000006744 330 0 0 229 21 8.4 TEKT3 0 genome.wustl.edu 37 17 15217493 15217493 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 15217493 15217493 C T SNP TEKT3 ENST00000338696 human ensembl 74_37 -1 known silent c.789 p.T263 0.000 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT3 HGNC ENSG00000125409 60 0 0 29 13 30.9524 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 75 0 0 62 4 6.06061 ZNF624 0 genome.wustl.edu 37 17 16550695 16550695 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 16550695 16550695 G A SNP ZNF624 ENST00000311331 human ensembl 74_37 -1 known missense c.101 p.T34I 0.940 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 ZNF624 HGNC ENSG00000197566 134 0 0 78 36 31.5789 NT5M 0 genome.wustl.edu 37 17 17209922 17209922 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 17209922 17209922 C T SNP NT5M ENST00000389022 human ensembl 74_37 +1 known silent c.333 p.A111 0.474 pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom - no_errors NT5M HGNC ENSG00000205309 153 0 0 103 43 29.4521 MYO15A 0 genome.wustl.edu 37 17 18023025 18023025 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 18023025 18023025 C T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.911 p.T304I 0.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 134 0 0 88 34 27.8689 MYO15A 0 genome.wustl.edu 37 17 18045519 18045519 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 18045519 18045519 C T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.5776 p.R1926C 1.000 superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 37 0 0 23 9 28.125 SMCR8 0 genome.wustl.edu 37 17 18219551 18219551 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 18219551 18219551 G A SNP SMCR8 ENST00000406438 human ensembl 74_37 +1 known missense c.448 p.V150M 1.000 pfam_Folliculin pfam_Folliculin - no_errors SMCR8 HGNC ENSG00000176994 114 0 0 62 39 38.6139 SMCR8 0 genome.wustl.edu 37 17 18225952 18225952 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 18225952 18225952 C T SNP SMCR8 ENST00000406438 human ensembl 74_37 +1 known silent c.2382 p.A794 0.005 NULL pfam_Folliculin - no_errors SMCR8 HGNC ENSG00000176994 81 0 0 65 16 19.7531 SMG6 0 genome.wustl.edu 37 17 2203754 2203754 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 2203754 2203754 C T SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known missense c.293 p.C98Y 0.982 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 245 0 0 130 56 30.1075 KSR1 0 genome.wustl.edu 37 17 25877651 25877651 + Missense_Mutation SNP G G C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 25877651 25877651 G C SNP KSR1 ENST00000319524 human ensembl 74_37 +1 known missense c.289 p.G97R 0.008 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 161 0 0 85 39 31.4516 TNFAIP1 0 genome.wustl.edu 37 17 26671481 26671481 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 26671481 26671481 C T SNP TNFAIP1 ENST00000226225 human ensembl 74_37 +1 known missense c.806 p.A269V 1.000 NULL pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors TNFAIP1 HGNC ENSG00000109079 71 0 0 34 16 32 NEK8 0 genome.wustl.edu 37 17 27064710 27064710 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 27064710 27064710 C T SNP NEK8 ENST00000268766 human ensembl 74_37 +1 known missense c.845 p.A282V 0.850 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 95 0 0 62 32 34.0426 NEK8 0 genome.wustl.edu 37 17 27068189 27068189 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 27068189 27068189 G A SNP NEK8 ENST00000268766 human ensembl 74_37 +1 known missense c.1826 p.G609D 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 104 0 0 53 28 34.5679 NF1 0 genome.wustl.edu 37 17 29509634 29509634 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 29509634 29509634 T C SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.839 p.I280T 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 30 0 0 16 8 33.3333 SH3GL1P1 0 genome.wustl.edu 37 17 30367429 30367429 + RNA SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 30367429 30367429 C T SNP SH3GL1P1 ENST00000582640 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SH3GL1P1 HGNC ENSG00000266777 11 0 0 13 11 45.8333 TRPV3 0 genome.wustl.edu 37 17 3431416 3431416 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 3431416 3431416 A G SNP TRPV3 ENST00000301365 human ensembl 74_37 -1 known missense c.1406 p.I469T 0.515 prints_TRPV1-4_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel - no_errors TRPV3 HGNC ENSG00000167723 26 0 0 13 15 53.5714 CTNS 0 genome.wustl.edu 37 17 3558639 3558639 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 3558639 3558639 C T SNP CTNS ENST00000381870 human ensembl 74_37 +1 known missense c.454 p.R152W 1.000 smart_CTNS,tigrfam_LC_transporter smart_CTNS,tigrfam_LC_transporter - no_errors CTNS HGNC ENSG00000040531 218 0 0 105 46 30.4636 FBXO47 0 genome.wustl.edu 37 17 37107906 37107906 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 37107906 37107906 G A SNP FBXO47 ENST00000378079 human ensembl 74_37 -1 known missense c.544 p.R182C 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO47 HGNC ENSG00000204952 59 0 0 33 17 34 KRT34 0 genome.wustl.edu 37 17 39534393 39534393 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 39534393 39534393 G T SNP KRT34 ENST00000394001 human ensembl 74_37 -1 known missense c.1229 p.P410H 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT34 HGNC ENSG00000131737 38 0 0 23 7 23.3333 KRT35 0 genome.wustl.edu 37 17 39633363 39633363 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 39633363 39633363 C T SNP KRT35 ENST00000393989 human ensembl 74_37 -1 known missense c.1313 p.R438H 0.017 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT35 HGNC ENSG00000197079 72 0 0 41 15 26.7857 ZZEF1 0 genome.wustl.edu 37 17 3974038 3974038 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 3974038 3974038 C T SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.4015 p.A1339T 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 132 0 0 71 48 40.3361 KLHL10 0 genome.wustl.edu 37 17 39994136 39994136 + RNA SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 39994136 39994136 C A SNP KLHL10 ENST00000485613 human ensembl 74_37 +1 known rna NULL NULL 0.980 - - - no_errors KLHL10 HGNC ENSG00000161594 80 0 0 44 26 37.1429 CCR10 0 genome.wustl.edu 37 17 40832555 40832555 + Silent SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 40832555 40832555 A G SNP CCR10 ENST00000332438 human ensembl 74_37 -1 known silent c.105 p.D35 0.709 prints_Chemokine_CCR10,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR10,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt - no_errors CCR10 HGNC ENSG00000184451 47 0 0 23 18 43.9024 BRCA1 0 genome.wustl.edu 37 17 41243800 41243800 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 41243800 41243800 C T SNP BRCA1 ENST00000471181 human ensembl 74_37 -1 known missense c.3748 p.E1250K 0.001 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 141 0 0 93 36 27.907 C1QL1 0 genome.wustl.edu 37 17 43045010 43045010 + Missense_Mutation SNP A A C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 43045010 43045010 A C SNP C1QL1 ENST00000253407 human ensembl 74_37 -1 known missense c.407 p.L136R 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL1 HGNC ENSG00000131094 91 0 0 53 34 39.0805 NMT1 0 genome.wustl.edu 37 17 43174504 43174504 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 43174504 43174504 G A SNP NMT1 ENST00000258960 human ensembl 74_37 +1 known missense c.605 p.R202Q 1.000 pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT1 HGNC ENSG00000136448 184 0 0 79 44 35.7724 CRHR1 0 genome.wustl.edu 37 17 43907506 43907506 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 43907506 43907506 G A SNP CRHR1 ENST00000398285 human ensembl 74_37 +1 known missense c.568 p.A190T 0.998 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR1 HGNC ENSG00000120088 129 0 0 44 35 44.3038 CBX1 0 genome.wustl.edu 37 17 46154279 46154279 + Nonsense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 46154279 46154279 G A SNP CBX1 ENST00000225603 human ensembl 74_37 -1 known nonsense c.88 p.R30* 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX1 HGNC ENSG00000108468 137 0 0 76 29 27.619 SNX11 0 genome.wustl.edu 37 17 46196139 46196139 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 46196139 46196139 G A SNP SNX11 ENST00000359238 human ensembl 74_37 +1 known missense c.304 p.G102S 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX11 HGNC ENSG00000002919 68 0 0 32 19 37.2549 XYLT2 0 genome.wustl.edu 37 17 48437479 48437479 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 48437479 48437479 G A SNP XYLT2 ENST00000017003 human ensembl 74_37 +1 known missense c.2425 p.E809K 0.828 NULL pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 68 0 0 25 13 34.2105 SPATA20 0 genome.wustl.edu 37 17 48629529 48629529 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 48629529 48629529 C T SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known missense c.1945 p.R649C 0.998 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 32 0 0 25 13 34.2105 CAMTA2 0 genome.wustl.edu 37 17 4885435 4885435 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 4885435 4885435 A G SNP CAMTA2 ENST00000573004 human ensembl 74_37 -1 known missense c.433 p.S145P 1.000 NULL pfam_CG-1_dom - no_errors CAMTA2 HGNC ENSG00000108509 168 0 0 67 32 32.3232 OR4D2 0 genome.wustl.edu 37 17 56247306 56247306 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 56247306 56247306 G A SNP OR4D2 ENST00000545221 human ensembl 74_37 +1 known missense c.290 p.C97Y 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D2 HGNC ENSG00000255713 119 0 0 81 35 30.1724 BZRAP1 0 genome.wustl.edu 37 17 56386607 56386607 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 56386607 56386607 G A SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known silent c.4026 p.D1342 0.000 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 57 0 0 37 35 48.6111 APPBP2 0 genome.wustl.edu 37 17 58539529 58539529 + RNA SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 58539529 58539529 T C SNP APPBP2 ENST00000592995 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors APPBP2 HGNC ENSG00000062725 22 0 0 16 6 27.2727 GH2 0 genome.wustl.edu 37 17 61958199 61958199 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 61958199 61958199 C T SNP GH2 ENST00000332800 human ensembl 74_37 -1 known missense c.389 p.G130D 0.906 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors GH2 HGNC ENSG00000136487 144 0 0 60 41 40.5941 CEP95 0 genome.wustl.edu 37 17 62523312 62523312 + Missense_Mutation SNP T T G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 62523312 62523312 T G SNP CEP95 ENST00000556440 human ensembl 74_37 +1 known missense c.1236 p.D412E 0.005 NULL superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 39 0 0 28 13 31.7073 SOX9 0 genome.wustl.edu 37 17 70120416 70120416 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 70120416 70120416 A G SNP SOX9 ENST00000245479 human ensembl 74_37 +1 known missense c.1418 p.Q473R 1.000 NULL pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX9 HGNC ENSG00000125398 100 0 0 73 35 32.4074 ACADVL 0 genome.wustl.edu 37 17 7127562 7127562 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 7127562 7127562 G A SNP ACADVL ENST00000356839 human ensembl 74_37 +1 known missense c.1532 p.R511Q 1.000 NULL pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADVL HGNC ENSG00000072778 42 0 0 32 11 25.5814 GALR2 0 genome.wustl.edu 37 17 74073226 74073226 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 74073226 74073226 C T SNP GALR2 ENST00000329003 human ensembl 74_37 +1 known missense c.878 p.A293V 0.987 pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_GAL2_rcpt - no_errors GALR2 HGNC ENSG00000182687 31 0 0 17 20 54.0541 QRICH2 0 genome.wustl.edu 37 17 74272799 74272799 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 74272799 74272799 C T SNP QRICH2 ENST00000262765 human ensembl 74_37 -1 known missense c.4817 p.R1606Q 1.000 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 100 0 0 50 18 26.4706 UBE2O 0 genome.wustl.edu 37 17 74395743 74395743 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 74395743 74395743 C A SNP UBE2O ENST00000319380 human ensembl 74_37 -1 known missense c.1415 p.R472M 0.880 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 92 0 0 75 4 5.06329 UBE2O 0 genome.wustl.edu 37 17 74396252 74396252 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 74396252 74396252 C T SNP UBE2O ENST00000319380 human ensembl 74_37 -1 known silent c.1131 p.Q377 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 85 0 0 60 18 23.0769 SEPT9 0 genome.wustl.edu 37 17 75484868 75484868 + Missense_Mutation SNP T T A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 75484868 75484868 T A SNP SEPT9 ENST00000427177 human ensembl 74_37 +1 known missense c.1184 p.V395D 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,superfamily_P-loop_NTPase - no_errors SEPT9 HGNC ENSG00000184640 89 0 0 65 14 17.7215 CCDC40 0 genome.wustl.edu 37 17 78021186 78021186 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 78021186 78021186 G A SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.661 p.V221I 0.000 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 37 0 0 12 6 33.3333 RNF213 0 genome.wustl.edu 37 17 78341576 78341576 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 78341576 78341576 C T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.11900 p.T3967M 0.972 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 93 0 0 42 26 38.2353 ARL16 0 genome.wustl.edu 37 17 79649138 79649138 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 79649138 79649138 G A SNP ARL16 ENST00000397498 human ensembl 74_37 -1 known silent c.348 p.S116 0.999 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 - no_errors ARL16 HGNC ENSG00000214087 26 0 0 20 7 25.9259 ALOX12B 0 genome.wustl.edu 37 17 7979592 7979592 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 7979592 7979592 C T SNP ALOX12B ENST00000319144 human ensembl 74_37 -1 known missense c.1433 p.S478N 0.003 pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml - no_errors ALOX12B HGNC ENSG00000179477 34 0 0 17 15 46.875 FASN 0 genome.wustl.edu 37 17 80044378 80044378 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 80044378 80044378 G A SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.3484 p.P1162S 0.995 NULL pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 63 0 0 30 13 30.2326 FASN 0 genome.wustl.edu 37 17 80046321 80046321 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 80046321 80046321 G A SNP FASN ENST00000306749 human ensembl 74_37 -1 known silent c.2538 p.A846 0.000 smart_PKS_dehydratase pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 36 0 0 33 15 31.25 FN3K 0 genome.wustl.edu 37 17 80708494 80708494 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 80708494 80708494 C T SNP FN3K ENST00000300784 human ensembl 74_37 +1 known missense c.793 p.R265W 0.938 pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase - no_errors FN3K HGNC ENSG00000167363 268 1 0.371747 159 71 30.8696 C17orf59 0 genome.wustl.edu 37 17 8093038 8093038 + Missense_Mutation SNP C C G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 8093038 8093038 C G SNP C17orf59 ENST00000389017 human ensembl 74_37 -1 known missense c.421 p.E141Q 0.094 NULL pfam_DUF2365 - no_errors C17orf59 HGNC ENSG00000196544 52 0 0 27 17 38.6364 MPPE1 0 genome.wustl.edu 37 18 11884395 11884395 + RNA SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 18 11884395 11884395 C T SNP MPPE1 ENST00000592755 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors MPPE1 HGNC ENSG00000154889 55 0 0 38 15 28.3019 SLC14A2 0 genome.wustl.edu 37 18 43207048 43207048 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 18 43207048 43207048 A G SNP SLC14A2 ENST00000255226 human ensembl 74_37 +1 known missense c.457 p.T153A 1.000 pfam_Urea_transporter pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 191 1 0.520833 132 23 14.8387 SMAD2 0 genome.wustl.edu 37 18 45395727 45395727 + Missense_Mutation SNP T T A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 18 45395727 45395727 T A SNP SMAD2 ENST00000262160 human ensembl 74_37 -1 known missense c.407 p.D136V 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD2 HGNC ENSG00000175387 41 0 0 33 15 31.25 NEDD4L 0 genome.wustl.edu 37 18 56002750 56002750 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 18 56002750 56002750 C T SNP NEDD4L ENST00000400345 human ensembl 74_37 +1 known missense c.1106 p.T369M 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom,prints_C2_dom - no_errors NEDD4L HGNC ENSG00000049759 92 0 0 46 22 32.3529 SERPINB8 0 genome.wustl.edu 37 18 61654234 61654234 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 18 61654234 61654234 C A SNP SERPINB8 ENST00000353706 human ensembl 74_37 +1 known missense c.847 p.L283I 0.962 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB8 HGNC ENSG00000166401 103 0 0 55 21 27.6316 LAMA1 0 genome.wustl.edu 37 18 7043243 7043243 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 18 7043243 7043243 A G SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.1138 p.Y380H 1.000 pfam_EGF_laminin,smart_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 232 0 0 171 14 7.56757 ZNF516 0 genome.wustl.edu 37 18 74153390 74153390 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 18 74153390 74153390 G A SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known missense c.1621 p.R541C 0.002 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 27 0 0 13 4 23.5294 ZNF236 0 genome.wustl.edu 37 18 74606996 74606996 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 18 74606996 74606996 G A SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.1439 p.R480H 0.705 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 182 0 0 94 55 36.9128 PTPRM 0 genome.wustl.edu 37 18 8113519 8113519 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 18 8113519 8113519 G A SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.1892 p.R631Q 1.000 smart_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 58 0 0 40 27 40.2985 SOGA2 0 genome.wustl.edu 37 18 8825585 8825585 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 18 8825585 8825585 G A SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known silent c.4077 p.S1359 0.066 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 58 0 0 15 11 42.3077 COL5A3 0 genome.wustl.edu 37 19 10078753 10078753 + Silent SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 10078753 10078753 A G SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known silent c.4317 p.G1439 0.375 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 81 0 0 46 22 32.3529 PPAN-P2RY11 0 genome.wustl.edu 37 19 10224725 10224725 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 10224725 10224725 G A SNP PPAN-P2RY11 ENST00000393796 human ensembl 74_37 +1 known missense c.1696 p.A566T 1.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Brix,pfam_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_7TM - no_errors PPAN-P2RY11 HGNC ENSG00000243207 61 0 0 41 20 32.7869 MRPL4 0 genome.wustl.edu 37 19 10368989 10368989 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 10368989 10368989 C T SNP MRPL4 ENST00000253099 human ensembl 74_37 +1 known silent c.537 p.T179 0.038 pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type - no_errors MRPL4 HGNC ENSG00000105364 53 0 0 34 18 34.6154 ICAM5 0 genome.wustl.edu 37 19 10404979 10404979 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 10404979 10404979 G A SNP ICAM5 ENST00000221980 human ensembl 74_37 +1 known missense c.1975 p.V659I 0.078 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 265 0 0 170 81 32.2709 DOCK6 0 genome.wustl.edu 37 19 11323941 11323941 + Nonsense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 11323941 11323941 G A SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known nonsense c.4402 p.R1468* 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 51 0 0 29 16 35.5556 ACP5 0 genome.wustl.edu 37 19 11687262 11687262 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 11687262 11687262 G A SNP ACP5 ENST00000218758 human ensembl 74_37 -1 known silent c.531 p.D177 0.001 pfam_PEstase_dom pfam_PEstase_dom - no_errors ACP5 HGNC ENSG00000102575 58 0 0 43 20 31.746 ZNF439 0 genome.wustl.edu 37 19 11979027 11979027 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 11979027 11979027 G A SNP ZNF439 ENST00000304030 human ensembl 74_37 +1 known silent c.1143 p.P381 0.354 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 ZNF439 HGNC ENSG00000171291 65 0 0 25 29 53.7037 ZNF791 0 genome.wustl.edu 37 19 12739129 12739129 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 12739129 12739129 C T SNP ZNF791 ENST00000343325 human ensembl 74_37 +1 known silent c.786 p.H262 0.659 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 ZNF791 HGNC ENSG00000173875 56 0 0 35 20 36.3636 TNPO2 0 genome.wustl.edu 37 19 12813689 12813689 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 12813689 12813689 C T SNP TNPO2 ENST00000425528 human ensembl 74_37 -1 known silent c.2253 p.L751 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors TNPO2 HGNC ENSG00000105576 255 0 0 161 31 16.1458 CACNA1A 0 genome.wustl.edu 37 19 13397765 13397765 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 13397765 13397765 G A SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known silent c.3105 p.S1035 0.092 prints_VDCC_P/Q_a1su pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 47 0 0 22 12 35.2941 MBD3 0 genome.wustl.edu 37 19 1581156 1581156 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 1581156 1581156 G A SNP MBD3 ENST00000156825 human ensembl 74_37 -1 known silent c.612 p.P204 0.036 superfamily_ARM-type_fold pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC ENSG00000071655 58 0 0 38 10 20.8333 CYP4F11 0 genome.wustl.edu 37 19 16024639 16024639 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 16024639 16024639 G A SNP CYP4F11 ENST00000248041 human ensembl 74_37 -1 known missense c.1478 p.P493L 0.946 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F11 HGNC ENSG00000171903 52 0 0 36 3 7.69231 TCF3 0 genome.wustl.edu 37 19 1627405 1627405 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 1627405 1627405 C T SNP TCF3 ENST00000262965 human ensembl 74_37 -1 known missense c.319 p.A107T 0.002 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF3 HGNC ENSG00000071564 24 0 0 19 5 20.8333 C19orf44 0 genome.wustl.edu 37 19 16613907 16613907 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 16613907 16613907 C A SNP C19orf44 ENST00000221671 human ensembl 74_37 +1 known missense c.791 p.P264H 0.001 NULL NULL - no_errors C19orf44 HGNC ENSG00000105072 96 0 0 63 19 23.1707 MED26 0 genome.wustl.edu 37 19 16688494 16688494 + Splice_Site SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 16688494 16688494 C T SNP MED26 ENST00000263390 human ensembl 74_37 -1 known splice_site c.148-1 e3-1 1.000 - - - no_errors MED26 HGNC ENSG00000105085 70 0 0 39 24 38.0952 ANO8 0 genome.wustl.edu 37 19 17441906 17441906 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 17441906 17441906 C A SNP ANO8 ENST00000159087 human ensembl 74_37 -1 known missense c.822 p.E274D 0.780 pfam_Anoctamin pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 89 0 0 76 27 26.2136 SLC27A1 0 genome.wustl.edu 37 19 17611178 17611178 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 17611178 17611178 G A SNP SLC27A1 ENST00000252595 human ensembl 74_37 +1 known missense c.1298 p.R433Q 0.999 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A1 HGNC ENSG00000130304 84 0 0 45 15 25 TMEM161A 0 genome.wustl.edu 37 19 19245695 19245695 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 19245695 19245695 G A SNP TMEM161A ENST00000162044 human ensembl 74_37 -1 known missense c.5 p.A2V 0.998 pfam_Transmembrane_161A/B pfam_Transmembrane_161A/B - no_errors TMEM161A HGNC ENSG00000064545 13 0 0 5 5 50 ZNF100 0 genome.wustl.edu 37 19 21948556 21948556 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 21948556 21948556 C A SNP ZNF100 ENST00000358296 human ensembl 74_37 -1 known missense c.36 p.K12N 0.005 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 ZNF100 HGNC ENSG00000197020 123 0 0 69 27 28.125 ZNF99 0 genome.wustl.edu 37 19 22940057 22940057 + Silent SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 22940057 22940057 G T SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known silent c.2274 p.S758 0.017 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ENSG00000213973 42 0 0 40 16 28.5714 TSHZ3 0 genome.wustl.edu 37 19 31769223 31769223 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 31769223 31769223 G A SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known silent c.1476 p.G492 0.003 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 337 0 0 131 71 35.1485 PDCD5 0 genome.wustl.edu 37 19 33076813 33076813 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 33076813 33076813 G T SNP PDCD5 ENST00000590247 human ensembl 74_37 +1 known missense c.258 p.K86N 1.000 pfam_PDCD5-related,superfamily_PDCD5-related,pirsf_PDCD5-related pfam_PDCD5-related,superfamily_PDCD5-related,pirsf_PDCD5-related - no_errors PDCD5 HGNC ENSG00000105185 87 0 0 46 15 24.5902 UBA2 0 genome.wustl.edu 37 19 34922769 34922769 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 34922769 34922769 G A SNP UBA2 ENST00000246548 human ensembl 74_37 +1 known missense c.226 p.A76T 1.000 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA2 HGNC ENSG00000126261 157 0 0 72 36 33.3333 MFSD12 0 genome.wustl.edu 37 19 3547998 3547998 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 3547998 3547998 C T SNP MFSD12 ENST00000398558 human ensembl 74_37 -1 known missense c.685 p.A229T 0.904 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD12 HGNC ENSG00000161091 58 0 0 18 19 51.3514 KMT2B 0 genome.wustl.edu 37 19 36215971 36215971 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 36215971 36215971 G A SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known missense c.3511 p.V1171I 0.953 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 69 0 0 49 5 9.25926 KMT2B 0 genome.wustl.edu 37 19 36218423 36218423 + Nonsense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 36218423 36218423 G A SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known nonsense c.4202 p.W1401* 1.000 pirsf_MeTrfase_trithorax,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 132 0 0 76 36 32.1429 KMT2B 0 genome.wustl.edu 37 19 36228995 36228995 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 36228995 36228995 A G SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known missense c.7775 p.K2592R 1.000 pirsf_MeTrfase_trithorax,pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 62 0 0 29 8 21.6216 LRFN3 0 genome.wustl.edu 37 19 36430697 36430697 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 36430697 36430697 G A SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known missense c.370 p.E124K 0.979 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,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 LRFN3 HGNC ENSG00000126243 45 0 0 29 24 45.283 HKR1 0 genome.wustl.edu 37 19 37854267 37854267 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 37854267 37854267 C T SNP HKR1 ENST00000324411 human ensembl 74_37 +1 known missense c.1570 p.P524S 0.998 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 HKR1 HGNC ENSG00000181666 82 0 0 54 26 32.5 SIPA1L3 0 genome.wustl.edu 37 19 38573387 38573387 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 38573387 38573387 C T SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known silent c.1182 p.G394 0.779 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 79 0 0 31 29 48.3333 CATSPERG 0 genome.wustl.edu 37 19 38850136 38850136 + Missense_Mutation SNP T T G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 38850136 38850136 T G SNP CATSPERG ENST00000409235 human ensembl 74_37 +1 known missense c.1523 p.L508R 1.000 NULL NULL - no_errors CATSPERG HGNC ENSG00000099338 62 0 0 25 7 21.875 RYR1 0 genome.wustl.edu 37 19 38948905 38948905 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 38948905 38948905 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.2140 p.G714S 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 176 0 0 96 49 33.7931 ACTN4 0 genome.wustl.edu 37 19 39219655 39219655 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 39219655 39219655 G A SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known missense c.2438 p.R813H 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 140 1 0.70922 74 34 31.4815 PLEKHG2 0 genome.wustl.edu 37 19 39914135 39914135 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 39914135 39914135 C T SNP PLEKHG2 ENST00000409794 human ensembl 74_37 +1 known missense c.2441 p.A814V 0.206 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG2 HGNC ENSG00000090924 17 0 0 14 12 46.1538 PRX 0 genome.wustl.edu 37 19 40899951 40899951 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 40899951 40899951 C T SNP PRX ENST00000324001 human ensembl 74_37 -1 known silent c.4308 p.R1436 0.998 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 86 0 0 61 25 29.0698 AXL 0 genome.wustl.edu 37 19 41749584 41749584 + Silent SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 41749584 41749584 C A SNP AXL ENST00000301178 human ensembl 74_37 +1 known silent c.1509 p.S503 0.999 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 151 0 0 74 30 28.8462 CCDC97 0 genome.wustl.edu 37 19 41828591 41828591 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 41828591 41828591 G A SNP CCDC97 ENST00000269967 human ensembl 74_37 +1 known missense c.1003 p.A335T 0.186 NULL pfam_DUF2052_coiled-coil - no_errors CCDC97 HGNC ENSG00000142039 94 0 0 57 20 25.974 ATP1A3 0 genome.wustl.edu 37 19 42492119 42492119 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 42492119 42492119 G A SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known missense c.326 p.A109V 1.000 tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 149 0 0 72 48 40 ZNF221 0 genome.wustl.edu 37 19 44466912 44466912 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 44466912 44466912 G A SNP ZNF221 ENST00000251269 human ensembl 74_37 +1 known missense c.34 p.G12R 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF221 HGNC ENSG00000159905 59 0 0 33 14 29.7872 PLIN4 0 genome.wustl.edu 37 19 4512048 4512048 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 4512048 4512048 C T SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel missense c.1882 p.V628M 0.000 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 210 0 0 106 64 37.6471 APOE 0 genome.wustl.edu 37 19 45412438 45412438 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 45412438 45412438 C T SNP APOE ENST00000252486 human ensembl 74_37 +1 known silent c.885 p.A295 0.004 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOE HGNC ENSG00000130203 35 0 0 23 10 30.303 EHD2 0 genome.wustl.edu 37 19 48229320 48229320 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 48229320 48229320 G A SNP EHD2 ENST00000263277 human ensembl 74_37 +1 known missense c.754 p.V252I 1.000 superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD2 HGNC ENSG00000024422 8 0 0 6 4 40 BCAT2 0 genome.wustl.edu 37 19 49299906 49299906 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 49299906 49299906 C T SNP BCAT2 ENST00000316273 human ensembl 74_37 -1 known missense c.994 p.V332M 0.996 pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT2 HGNC ENSG00000105552 104 0 0 82 33 28.6957 GYS1 0 genome.wustl.edu 37 19 49494662 49494662 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 49494662 49494662 C A SNP GYS1 ENST00000323798 human ensembl 74_37 -1 known missense c.197 p.G66V 1.000 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom - no_errors GYS1 HGNC ENSG00000104812 274 0 0 158 88 35.7724 PRR12 0 genome.wustl.edu 37 19 50099705 50099705 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 50099705 50099705 C T SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel missense c.2113 p.R705C 0.986 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 32 0 0 13 5 27.7778 PTOV1 0 genome.wustl.edu 37 19 50357780 50357780 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 50357780 50357780 G A SNP PTOV1 ENST00000391842 human ensembl 74_37 +1 known missense c.289 p.G97S 0.984 pfam_Mediator_Med25 pfam_Mediator_Med25 - no_errors PTOV1 HGNC ENSG00000104960 99 0 0 64 40 38.4615 FPR1 0 genome.wustl.edu 37 19 52249510 52249510 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 52249510 52249510 G A SNP FPR1 ENST00000304748 human ensembl 74_37 -1 known silent c.738 p.V246 0.029 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR1 HGNC ENSG00000171051 67 0 0 36 21 36.8421 PTPRS 0 genome.wustl.edu 37 19 5245977 5245977 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 5245977 5245977 G A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known silent c.801 p.C267 0.857 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 16 0 0 10 8 44.4444 PRKCG 0 genome.wustl.edu 37 19 54395893 54395893 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 54395893 54395893 G T SNP PRKCG ENST00000540413 human ensembl 74_37 +1 known missense c.817 p.G273C 1.000 superfamily_C2_dom,smart_C2_dom,pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCG HGNC ENSG00000126583 42 0 0 25 11 30.5556 CACNG7 0 genome.wustl.edu 37 19 54417817 54417817 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 54417817 54417817 C T SNP CACNG7 ENST00000222212 human ensembl 74_37 +1 known missense c.260 p.T87M 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu - no_errors CACNG7 HGNC ENSG00000105605 48 0 0 39 11 22 LILRA2 0 genome.wustl.edu 37 19 55087402 55087402 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 55087402 55087402 G T SNP LILRA2 ENST00000251377 human ensembl 74_37 +1 known missense c.1081 p.G361C 0.001 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA2 HGNC ENSG00000239998 71 0 0 52 25 32.4675 LILRB1 0 genome.wustl.edu 37 19 55144041 55144041 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 55144041 55144041 G A SNP LILRB1 ENST00000324602 human ensembl 74_37 +1 known missense c.788 p.R263H 0.001 smart_Ig_sub,smart_Ig_sub2 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 141 0 0 110 6 5.17241 LILRB1 0 genome.wustl.edu 37 19 55145093 55145093 + Silent SNP G G C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 55145093 55145093 G C SNP LILRB1 ENST00000324602 human ensembl 74_37 +1 known silent c.1266 p.P422 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 30 0 0 23 3 11.5385 EPS8L1 0 genome.wustl.edu 37 19 55591186 55591186 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 55591186 55591186 C T SNP EPS8L1 ENST00000201647 human ensembl 74_37 +1 known silent c.246 p.P82 0.000 pfam_PTB,smart_PTB/PI_dom pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L1 HGNC ENSG00000131037 28 0 0 16 13 44.8276 NLRP13 0 genome.wustl.edu 37 19 56413493 56413493 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 56413493 56413493 G A SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known silent c.2697 p.H899 0.230 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 51 0 0 38 23 37.7049 LONP1 0 genome.wustl.edu 37 19 5705847 5705847 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 5705847 5705847 T C SNP LONP1 ENST00000360614 human ensembl 74_37 -1 known missense c.1303 p.M435V 1.000 tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,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 LONP1 HGNC ENSG00000196365 102 0 0 57 30 34.4828 ZIM2 0 genome.wustl.edu 37 19 57286450 57286450 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 57286450 57286450 G A SNP ZIM2 ENST00000221722 human ensembl 74_37 -1 known missense c.1190 p.A397V 0.000 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM2 HGNC ENSG00000269699 60 0 0 40 20 33.3333 ZIM2 0 genome.wustl.edu 37 19 57334113 57334113 + Silent SNP A A C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 57334113 57334113 A C SNP ZIM2 ENST00000593931 human ensembl 74_37 -1 putative silent c.198 p.S66 0.056 NULL NULL - no_errors ZIM2 HGNC ENSG00000269699 29 0 0 14 7 33.3333 ZNF548 0 genome.wustl.edu 37 19 57910087 57910087 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 57910087 57910087 C A SNP ZNF548 ENST00000336128 human ensembl 74_37 +1 known missense c.468 p.H156Q 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF548 HGNC ENSG00000188785 82 0 0 38 22 36.6667 ZSCAN4 0 genome.wustl.edu 37 19 58189949 58189949 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 58189949 58189949 C T SNP ZSCAN4 ENST00000318203 human ensembl 74_37 +1 known silent c.978 p.H326 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN4 HGNC ENSG00000180532 104 0 0 56 16 22.2222 ZNF551 0 genome.wustl.edu 37 19 58198694 58198694 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 58198694 58198694 A G SNP ZNF551 ENST00000282296 human ensembl 74_37 +1 known missense c.1051 p.I351V 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF551 HGNC ENSG00000204519 92 0 0 43 30 41.0959 ZNF552 0 genome.wustl.edu 37 19 58319557 58319557 + Missense_Mutation SNP T T G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 58319557 58319557 T G SNP ZNF552 ENST00000391701 human ensembl 74_37 -1 known missense c.1075 p.K359Q 0.940 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF552 HGNC ENSG00000178935 93 0 0 45 27 37.5 LOC100131691 0 genome.wustl.edu 37 19 59082271 59082271 + RNA SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 59082271 59082271 C T SNP LOC100131691 ENST00000600726 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC016629.8 Clone_based_vega_gene ENSG00000267858 18 0 0 18 10 35.7143 RFX2 0 genome.wustl.edu 37 19 6042053 6042053 + Splice_Site SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 6042053 6042053 A G SNP RFX2 ENST00000303657 human ensembl 74_37 -1 known splice_site c.260+2 e3+2 1.000 - - - no_errors RFX2 HGNC ENSG00000087903 161 0 0 98 28 22.2222 TRIP10 0 genome.wustl.edu 37 19 6746467 6746467 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 6746467 6746467 T C SNP TRIP10 ENST00000313244 human ensembl 74_37 +1 known missense c.1157 p.V386A 1.000 NULL pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors TRIP10 HGNC ENSG00000125733 42 0 0 22 9 29.0323 TIMM44 0 genome.wustl.edu 37 19 7999057 7999057 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 7999057 7999057 T C SNP TIMM44 ENST00000270538 human ensembl 74_37 -1 known missense c.460 p.K154E 1.000 pirsf_Tim44,tigrfam_Tim44 pfam_Tim44-like_dom,smart_Tim44-like_dom,pirsf_Tim44,tigrfam_Tim44 - no_errors TIMM44 HGNC ENSG00000104980 150 0 0 82 32 28.0702 MYO1F 0 genome.wustl.edu 37 19 8620591 8620591 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 8620591 8620591 G A SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known silent c.93 p.D31 0.994 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 108 0 0 51 24 32 MED16 0 genome.wustl.edu 37 19 873537 873537 + Missense_Mutation SNP A A C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 873537 873537 A C SNP MED16 ENST00000325464 human ensembl 74_37 -1 known missense c.1817 p.L606R 0.995 pfam_Mediator_Med16 pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC ENSG00000175221 95 0 0 51 22 30.137 MUC16 0 genome.wustl.edu 37 19 9056201 9056201 + Missense_Mutation SNP T T G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 9056201 9056201 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.31245 p.Q10415H 0.006 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 195 0 0 92 65 41.4013 MUC16 0 genome.wustl.edu 37 19 9087799 9087799 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 9087799 9087799 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.4016 p.S1339Y 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 86 0 0 44 10 18.5185 TBC1D8 0 genome.wustl.edu 37 2 101656773 101656773 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 101656773 101656773 G A SNP TBC1D8 ENST00000409318 human ensembl 74_37 -1 known missense c.947 p.A316V 0.234 pfam_GRAM,smart_GRAM pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8 HGNC ENSG00000204634 46 0 0 23 14 37.8378 IL1RL1 0 genome.wustl.edu 37 2 102955439 102955439 + Splice_Site SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 102955439 102955439 A G SNP IL1RL1 ENST00000404917 human ensembl 74_37 +1 known splice_site c.1-2 e1-2 0.053 - - - no_errors IL1RL1 HGNC ENSG00000115602 226 0 0 93 36 27.907 RANBP2 0 genome.wustl.edu 37 2 109379767 109379767 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 109379767 109379767 G A SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known silent c.2772 p.P924 0.949 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 81 0 0 47 28 37.3333 EN1 0 genome.wustl.edu 37 2 119604484 119604484 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 119604484 119604484 G A SNP EN1 ENST00000295206 human ensembl 74_37 -1 known missense c.260 p.A87V 0.998 NULL pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4 - no_errors EN1 HGNC ENSG00000163064 22 0 0 11 12 52.1739 IWS1 0 genome.wustl.edu 37 2 128252455 128252455 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 128252455 128252455 G A SNP IWS1 ENST00000295321 human ensembl 74_37 -1 known missense c.1792 p.L598F 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 63 0 0 28 12 30 SAP130 0 genome.wustl.edu 37 2 128775465 128775465 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 128775465 128775465 G T SNP SAP130 ENST00000357702 human ensembl 74_37 -1 known missense c.215 p.S72Y 0.404 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 46 0 0 32 22 40.7407 PTPN18 0 genome.wustl.edu 37 2 131130739 131130739 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 131130739 131130739 T C SNP PTPN18 ENST00000175756 human ensembl 74_37 +1 known missense c.1325 p.L442P 0.987 NULL pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN18 HGNC ENSG00000072135 31 0 0 11 8 42.1053 POTEI 0 genome.wustl.edu 37 2 131221054 131221054 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 131221054 131221054 A G SNP POTEI ENST00000451531 human ensembl 74_37 -1 novel missense c.2563 p.S855P 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEI HGNC ENSG00000196834 32 0 0 24 15 38.4615 LRP1B 0 genome.wustl.edu 37 2 141458136 141458136 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 141458136 141458136 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.6482 p.R2161Q 1.000 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 145 0 0 81 38 31.9328 KCNJ3 0 genome.wustl.edu 37 2 155555820 155555820 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 155555820 155555820 G A SNP KCNJ3 ENST00000295101 human ensembl 74_37 +1 known missense c.533 p.G178D 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ3 HGNC ENSG00000162989 93 0 0 54 18 25 NR4A2 0 genome.wustl.edu 37 2 157186121 157186121 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 157186121 157186121 C T SNP NR4A2 ENST00000539077 human ensembl 74_37 -1 known missense c.611 p.R204H 1.000 prints_NURR_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A2 HGNC ENSG00000153234 137 0 0 131 22 14.3791 UPP2 0 genome.wustl.edu 37 2 158971760 158971760 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 158971760 158971760 C T SNP UPP2 ENST00000409859 human ensembl 74_37 +1 known missense c.499 p.L167F 1.000 pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk - no_errors UPP2 HGNC ENSG00000007001 90 0 0 36 7 16.2791 BAZ2B 0 genome.wustl.edu 37 2 160182228 160182228 + Nonsense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 160182228 160182228 G A SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known nonsense c.6145 p.Q2049* 1.000 superfamily_Bromodomain pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 79 0 0 42 25 37.3134 SCN9A 0 genome.wustl.edu 37 2 167055891 167055891 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 167055891 167055891 T C SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.5261 p.N1754S 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 189 0 0 143 38 20.9945 SCN7A 0 genome.wustl.edu 37 2 167289041 167289041 + Silent SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 167289041 167289041 A G SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known silent c.2379 p.H793 0.364 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 172 0 0 99 52 34.4371 TTC30B 0 genome.wustl.edu 37 2 178416799 178416799 + Silent SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 178416799 178416799 A G SNP TTC30B ENST00000408939 human ensembl 74_37 -1 known silent c.693 p.T231 0.118 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30B HGNC ENSG00000196659 82 0 0 87 14 13.8614 TTC30A 0 genome.wustl.edu 37 2 178482764 178482764 + Silent SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 178482764 178482764 A G SNP TTC30A ENST00000355689 human ensembl 74_37 -1 known silent c.666 p.H222 1.000 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30A HGNC ENSG00000197557 62 0 0 51 7 12.069 TTC30A 0 genome.wustl.edu 37 2 178483324 178483324 + Missense_Mutation SNP G G C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 178483324 178483324 G C SNP TTC30A ENST00000355689 human ensembl 74_37 -1 known missense c.106 p.R36G 0.484 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30A HGNC ENSG00000197557 17 0 0 12 4 25 PDE11A 0 genome.wustl.edu 37 2 178937033 178937033 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 178937033 178937033 C A SNP PDE11A ENST00000286063 human ensembl 74_37 -1 known missense c.132 p.Q44H 0.006 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE11A HGNC ENSG00000128655 41 0 0 29 12 29.2683 TTN 0 genome.wustl.edu 37 2 179399703 179399703 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 179399703 179399703 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.93935 p.E31312G 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 50 0 0 29 17 36.9565 TTN 0 genome.wustl.edu 37 2 179435692 179435692 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 179435692 179435692 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.67463 p.A22488V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 226 0 0 125 51 28.9773 TTN 0 genome.wustl.edu 37 2 179543552 179543552 + Nonsense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 179543552 179543552 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.30016 p.E10006* 1.000 pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 64 0 0 36 23 38.9831 TTN 0 genome.wustl.edu 37 2 179583588 179583588 + Missense_Mutation SNP T T G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 179583588 179583588 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.20607 p.K6869N 0.895 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 42 0 0 24 14 36.8421 ENSG00000267784 0 genome.wustl.edu 37 2 179588564 179588564 + RNA SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 179588564 179588564 A G SNP ENSG00000267784 ENST00000590024 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-171I2.1 Clone_based_vega_gene ENSG00000267784 50 0 0 38 23 37.7049 NAB1 0 genome.wustl.edu 37 2 191524419 191524419 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 191524419 191524419 C T SNP NAB1 ENST00000337386 human ensembl 74_37 +1 known missense c.517 p.L173F 1.000 pfam_NAB_co-repressor_dom pfam_Nab1_C,pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB1 HGNC ENSG00000138386 37 0 0 27 12 30.7692 STAT1 0 genome.wustl.edu 37 2 191873701 191873701 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 191873701 191873701 C A SNP STAT1 ENST00000361099 human ensembl 74_37 -1 known missense c.261 p.K87N 1.000 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC ENSG00000115415 43 0 0 28 9 24.3243 HECW2 0 genome.wustl.edu 37 2 197185165 197185165 + Splice_Site SNP T T G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 197185165 197185165 T G SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known splice_site c.885-2 e7-2 1.000 - - - no_errors HECW2 HGNC ENSG00000138411 19 0 0 12 6 33.3333 CDK15 0 genome.wustl.edu 37 2 202671427 202671427 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 202671427 202671427 T C SNP CDK15 ENST00000374598 human ensembl 74_37 +1 known missense c.40 p.C14R 0.970 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 CDK15 HGNC ENSG00000138395 34 0 0 18 6 25 PARD3B 0 genome.wustl.edu 37 2 206305215 206305215 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 206305215 206305215 A G SNP PARD3B ENST00000406610 human ensembl 74_37 +1 known missense c.2863 p.R955G 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 145 0 0 76 48 38.7097 C2orf80 0 genome.wustl.edu 37 2 209035783 209035783 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 209035783 209035783 G A SNP C2orf80 ENST00000341287 human ensembl 74_37 -1 known silent c.459 p.V153 1.000 NULL NULL - no_errors C2orf80 HGNC ENSG00000188674 101 0 0 59 26 30.5882 SPAG16 0 genome.wustl.edu 37 2 214149345 214149345 + Splice_Site SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 214149345 214149345 T C SNP SPAG16 ENST00000331683 human ensembl 74_37 +1 known splice_site c.136+2 e1+2 1.000 - - - no_errors SPAG16 HGNC ENSG00000144451 31 0 0 17 6 26.087 FN1 0 genome.wustl.edu 37 2 216262403 216262403 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 216262403 216262403 G A SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.3517 p.P1173S 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 88 0 0 44 29 39.726 MREG 0 genome.wustl.edu 37 2 216810377 216810377 + Nonsense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 216810377 216810377 G A SNP MREG ENST00000263268 human ensembl 74_37 -1 known nonsense c.427 p.R143* 1.000 NULL NULL - no_errors MREG HGNC ENSG00000118242 50 0 0 25 14 35.8974 TNS1 0 genome.wustl.edu 37 2 218674599 218674599 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 218674599 218674599 G A SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known silent c.4908 p.I1636 0.119 pfam_PTB,smart_PTB/PI_dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 67 0 0 26 17 39.5349 CRYBA2 0 genome.wustl.edu 37 2 219854948 219854948 + RNA SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 219854948 219854948 A G SNP CRYBA2 ENST00000487181 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CRYBA2 HGNC ENSG00000163499 80 0 0 37 29 43.9394 ZFAND2B 0 genome.wustl.edu 37 2 220073044 220073044 + Silent SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 220073044 220073044 C A SNP ZFAND2B ENST00000289528 human ensembl 74_37 +1 known silent c.501 p.T167 0.000 NULL pfam_Znf_AN1,smart_Znf_AN1,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Znf_AN1 - no_errors ZFAND2B HGNC ENSG00000158552 58 0 0 27 11 28.9474 ARMC9 0 genome.wustl.edu 37 2 232123796 232123796 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 232123796 232123796 T C SNP ARMC9 ENST00000349938 human ensembl 74_37 +1 known missense c.1007 p.L336S 0.984 NULL superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors ARMC9 HGNC ENSG00000135931 54 0 0 29 17 36.9565 C2orf57 0 genome.wustl.edu 37 2 232458511 232458511 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 232458511 232458511 C T SNP C2orf57 ENST00000313965 human ensembl 74_37 +1 known silent c.849 p.G283 0.743 NULL NULL - no_errors C2orf57 HGNC ENSG00000177673 101 0 0 71 29 29 ALPP 0 genome.wustl.edu 37 2 233246000 233246000 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 233246000 233246000 C T SNP ALPP ENST00000392027 human ensembl 74_37 +1 known missense c.1232 p.T411M 0.997 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC ENSG00000163283 59 0 0 30 11 26.8293 NEU2 0 genome.wustl.edu 37 2 233897493 233897493 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 233897493 233897493 G A SNP NEU2 ENST00000233840 human ensembl 74_37 +1 known missense c.112 p.A38T 0.929 superfamily_Sialidases superfamily_Sialidases - no_errors NEU2 HGNC ENSG00000115488 75 0 0 39 32 45.0704 UGT1A4 0 genome.wustl.edu 37 2 234627599 234627599 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 234627599 234627599 C T SNP UGT1A4 ENST00000373409 human ensembl 74_37 +1 known missense c.133 p.R45W 0.001 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 75 0 0 44 16 26.6667 DNAJB3 0 genome.wustl.edu 37 2 234652144 234652144 + RNA SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 234652144 234652144 G T SNP DNAJB3 ENST00000449667 human ensembl 74_37 -1 known rna NULL NULL 0.548 - - - no_errors DNAJB3 HGNC ENSG00000227802 54 0 0 29 17 36.9565 TRPM8 0 genome.wustl.edu 37 2 234873391 234873391 + Silent SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 234873391 234873391 C A SNP TRPM8 ENST00000324695 human ensembl 74_37 +1 known silent c.1869 p.T623 0.572 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 80 0 0 46 11 19.2982 ILKAP 0 genome.wustl.edu 37 2 239092729 239092729 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 239092729 239092729 G A SNP ILKAP ENST00000254654 human ensembl 74_37 -1 known silent c.558 p.T186 0.205 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors ILKAP HGNC ENSG00000132323 102 0 0 46 17 26.9841 HDAC4 0 genome.wustl.edu 37 2 240056254 240056254 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 240056254 240056254 G A SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.1064 p.T355M 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 72 0 0 28 24 46.1538 AQP12B 0 genome.wustl.edu 37 2 241621893 241621893 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 241621893 241621893 C T SNP AQP12B ENST00000407834 human ensembl 74_37 -1 known missense c.362 p.G121D 0.991 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP - no_errors AQP12B HGNC ENSG00000185176 89 0 0 42 16 27.5862 BOK 0 genome.wustl.edu 37 2 242509686 242509686 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 242509686 242509686 C T SNP BOK ENST00000318407 human ensembl 74_37 +1 known missense c.496 p.R166W 1.000 pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BOK HGNC ENSG00000176720 8 0 0 1 3 75 LOC101930257 0 genome.wustl.edu 37 2 243056854 243056854 + RNA SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 243056854 243056854 A G SNP LOC101930257 ENST00000431796 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC093642.5 Clone_based_vega_gene ENSG00000220804 37 0 0 34 6 15 ASXL2 0 genome.wustl.edu 37 2 25991624 25991624 + Silent SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 25991624 25991624 T C SNP ASXL2 ENST00000435504 human ensembl 74_37 -1 known silent c.618 p.V206 0.499 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 157 0 0 83 45 35.1562 GTF3C2 0 genome.wustl.edu 37 2 27560874 27560874 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 27560874 27560874 T C SNP GTF3C2 ENST00000264720 human ensembl 74_37 -1 known missense c.869 p.H290R 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GTF3C2 HGNC ENSG00000115207 241 0 0 138 83 37.5566 EIF2B4 0 genome.wustl.edu 37 2 27591960 27591960 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 27591960 27591960 C T SNP EIF2B4 ENST00000347454 human ensembl 74_37 -1 known missense c.331 p.E111K 1.000 NULL pfam_IF-2B-related - no_errors EIF2B4 HGNC ENSG00000115211 156 0 0 93 42 31.1111 HNRNPLL 0 genome.wustl.edu 37 2 38818748 38818748 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 38818748 38818748 C T SNP HNRNPLL ENST00000449105 human ensembl 74_37 -1 known missense c.232 p.V78I 1.000 smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPLL HGNC ENSG00000143889 108 0 0 68 28 29.1667 SLC3A1 0 genome.wustl.edu 37 2 44547361 44547361 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 44547361 44547361 G A SNP SLC3A1 ENST00000260649 human ensembl 74_37 +1 known silent c.1641 p.S547 0.002 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A1 HGNC ENSG00000138079 61 0 0 39 16 29.0909 NRXN1 0 genome.wustl.edu 37 2 51254651 51254651 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 51254651 51254651 T C SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.761 p.D254G 1.000 smart_EG-like_dom,pfscan_EG-like_dom 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 29 0 0 19 7 26.9231 CHAC2 0 genome.wustl.edu 37 2 53999079 53999079 + Silent SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 53999079 53999079 G T SNP CHAC2 ENST00000295304 human ensembl 74_37 +1 known silent c.171 p.A57 1.000 pfam_ChaC pfam_ChaC - no_errors CHAC2 HGNC ENSG00000143942 94 0 0 66 16 19.5122 ERLEC1 0 genome.wustl.edu 37 2 54023109 54023109 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 54023109 54023109 C A SNP ERLEC1 ENST00000185150 human ensembl 74_37 +1 known missense c.307 p.L103I 0.998 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors ERLEC1 HGNC ENSG00000068912 68 0 0 24 22 47.8261 CCDC88A 0 genome.wustl.edu 37 2 55561433 55561433 + Nonsense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 55561433 55561433 G A SNP CCDC88A ENST00000436346 human ensembl 74_37 -1 known nonsense c.2524 p.R842* 1.000 superfamily_Prefoldin pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 71 0 0 44 22 33.3333 SMEK2 0 genome.wustl.edu 37 2 55791531 55791531 + Missense_Mutation SNP T T G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 55791531 55791531 T G SNP SMEK2 ENST00000272313 human ensembl 74_37 -1 known missense c.1923 p.K641N 1.000 NULL pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK2 HGNC ENSG00000138041 85 0 0 29 17 36.9565 CMPK2 0 genome.wustl.edu 37 2 6989849 6989849 + RNA SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 6989849 6989849 G A SNP CMPK2 ENST00000478738 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CMPK2 HGNC ENSG00000134326 32 0 0 18 12 40 CYP26B1 0 genome.wustl.edu 37 2 72360353 72360353 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 72360353 72360353 G A SNP CYP26B1 ENST00000001146 human ensembl 74_37 -1 known silent c.945 p.H315 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP26B1 HGNC ENSG00000003137 30 0 0 20 10 33.3333 TET3 0 genome.wustl.edu 37 2 74317097 74317097 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 74317097 74317097 A G SNP TET3 ENST00000409262 human ensembl 74_37 +1 known missense c.2557 p.M853V 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 185 0 0 129 77 37.3786 MOGS 0 genome.wustl.edu 37 2 74689670 74689670 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 74689670 74689670 C A SNP MOGS ENST00000233616 human ensembl 74_37 -1 known missense c.1246 p.G416W 0.021 pfam_Glycoside_hydrolase_63 pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like - no_errors MOGS HGNC ENSG00000115275 199 0 0 112 58 34.1176 LBX2 0 genome.wustl.edu 37 2 74725093 74725093 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 74725093 74725093 C T SNP LBX2 ENST00000377566 human ensembl 74_37 -1 known silent c.558 p.R186 0.003 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors LBX2 HGNC ENSG00000179528 49 0 0 26 14 35 KIDINS220 0 genome.wustl.edu 37 2 8919071 8919071 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 8919071 8919071 C T SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known missense c.2569 p.V857I 1.000 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 130 0 0 62 32 34.0426 NEURL3 0 genome.wustl.edu 37 2 97166219 97166219 + RNA SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 97166219 97166219 G A SNP NEURL3 ENST00000310865 human ensembl 74_37 -1 known rna NULL NULL 0.906 - - - no_errors NEURL3 HGNC ENSG00000163121 22 0 0 12 8 40 CNNM3 0 genome.wustl.edu 37 2 97494763 97494763 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 97494763 97494763 C A SNP CNNM3 ENST00000305510 human ensembl 74_37 +1 known missense c.1951 p.L651M 1.000 NULL pfam_DUF21,superfamily_RNA_pol_subH/Rpb5_C,superfamily_cNMP-bd-like - no_errors CNNM3 HGNC ENSG00000168763 90 0 0 44 13 22.807 JAG1 0 genome.wustl.edu 37 20 10629248 10629248 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 10629248 10629248 G A SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known silent c.1518 p.I506 1.000 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 pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 61 0 0 28 23 45.098 SDCBP2 0 genome.wustl.edu 37 20 1291095 1291095 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 1291095 1291095 G A SNP SDCBP2 ENST00000339987 human ensembl 74_37 -1 known missense c.869 p.P290L 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP2 HGNC ENSG00000125775 89 0 0 34 14 29.1667 KIF16B 0 genome.wustl.edu 37 20 16359706 16359706 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 16359706 16359706 G A SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known missense c.2941 p.R981C 0.983 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 206 0 0 124 47 27.4854 CST7 0 genome.wustl.edu 37 20 24938043 24938043 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 24938043 24938043 C T SNP CST7 ENST00000376835 human ensembl 74_37 +1 known missense c.257 p.T86M 0.977 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST7 HGNC ENSG00000077984 145 0 0 70 26 27.0833 DEFB119 0 genome.wustl.edu 37 20 29976953 29976953 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 29976953 29976953 G A SNP DEFB119 ENST00000376315 human ensembl 74_37 -1 known missense c.142 p.R48W 0.428 superfamily_Scorpion_toxin-like superfamily_Scorpion_toxin-like - no_errors DEFB119 HGNC ENSG00000180483 131 0 0 54 43 44.3299 NECAB3 0 genome.wustl.edu 37 20 32248163 32248163 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 32248163 32248163 C T SNP NECAB3 ENST00000246190 human ensembl 74_37 -1 known silent c.426 p.T142 0.074 NULL pfam_Antibiotic_mOase,pfam_EF_hand_dom,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NECAB3 HGNC ENSG00000125967 70 0 0 52 16 23.5294 TRPC4AP 0 genome.wustl.edu 37 20 33591353 33591353 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 33591353 33591353 G A SNP TRPC4AP ENST00000252015 human ensembl 74_37 -1 known missense c.2116 p.P706S 1.000 pfam_DUF3689 pfam_DUF3689 - no_errors TRPC4AP HGNC ENSG00000100991 46 0 0 38 25 39.6825 CNBD2 0 genome.wustl.edu 37 20 34611560 34611560 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 34611560 34611560 G A SNP CNBD2 ENST00000373973 human ensembl 74_37 +1 known missense c.1306 p.D436N 0.724 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC ENSG00000149646 118 0 0 53 28 34.5679 ATRN 0 genome.wustl.edu 37 20 3540127 3540127 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 3540127 3540127 C T SNP ATRN ENST00000262919 human ensembl 74_37 +1 known silent c.1200 p.Y400 0.995 NULL pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ENSG00000088812 92 0 0 37 19 33.9286 RALGAPB 0 genome.wustl.edu 37 20 37168534 37168534 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 37168534 37168534 T C SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known missense c.2495 p.M832T 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 79 0 0 52 15 22.3881 PPP1R16B 0 genome.wustl.edu 37 20 37464806 37464806 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 37464806 37464806 G A SNP PPP1R16B ENST00000299824 human ensembl 74_37 +1 known missense c.238 p.D80N 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC ENSG00000101445 61 0 0 30 8 21.0526 DHX35 0 genome.wustl.edu 37 20 37617501 37617501 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 37617501 37617501 G A SNP DHX35 ENST00000252011 human ensembl 74_37 +1 known missense c.391 p.E131K 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX35 HGNC ENSG00000101452 123 0 0 69 39 36.1111 PLCG1 0 genome.wustl.edu 37 20 39791907 39791907 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 39791907 39791907 T C SNP PLCG1 ENST00000244007 human ensembl 74_37 +1 known missense c.781 p.Y261H 1.000 pfam_PLipase_C_EF-hand-like,pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 156 0 0 91 15 14.1509 PTPRT 0 genome.wustl.edu 37 20 40714411 40714411 + Missense_Mutation SNP T T G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 40714411 40714411 T G SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.3986 p.E1329A 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 94 0 0 88 15 14.5631 KCNS1 0 genome.wustl.edu 37 20 43726361 43726361 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 43726361 43726361 C T SNP KCNS1 ENST00000306117 human ensembl 74_37 -1 known missense c.1052 p.R351H 1.000 pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6 - no_errors KCNS1 HGNC ENSG00000124134 28 0 0 20 8 28.5714 WFDC6 0 genome.wustl.edu 37 20 44167994 44167994 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 44167994 44167994 T C SNP WFDC6 ENST00000600168 human ensembl 74_37 -1 known missense c.53 p.D18G 0.000 NULL pfam_Prot_inh_Kunz-m,pfam_WAP-type_4-diS_core,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors WFDC6 HGNC ENSG00000243543 92 0 0 51 20 28.169 ZNF335 0 genome.wustl.edu 37 20 44586250 44586250 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 44586250 44586250 C T SNP ZNF335 ENST00000322927 human ensembl 74_37 -1 known missense c.2417 p.R806Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 41 0 0 29 9 23.6842 PREX1 0 genome.wustl.edu 37 20 47317421 47317421 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 47317421 47317421 A G SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known missense c.787 p.S263P 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 164 0 0 109 45 29.2208 ATP9A 0 genome.wustl.edu 37 20 50273655 50273655 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 50273655 50273655 G A SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known missense c.1328 p.T443M 0.179 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9A HGNC ENSG00000054793 49 0 0 37 10 21.2766 SALL4 0 genome.wustl.edu 37 20 50406893 50406893 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 50406893 50406893 G A SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known missense c.2129 p.T710M 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 67 0 0 30 25 45.4545 CDS2 0 genome.wustl.edu 37 20 5167481 5167481 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 5167481 5167481 G A SNP CDS2 ENST00000460006 human ensembl 74_37 +1 known missense c.977 p.G326D 1.000 pfam_PC_trans,pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS2 HGNC ENSG00000101290 81 0 0 55 25 31.25 BCAS1 0 genome.wustl.edu 37 20 52645067 52645067 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 52645067 52645067 T C SNP BCAS1 ENST00000371440 human ensembl 74_37 -1 known missense c.587 p.K196R 0.513 NULL NULL - no_errors BCAS1 HGNC ENSG00000064787 176 0 0 118 56 32.1839 CSTF1 0 genome.wustl.edu 37 20 54970790 54970790 + RNA SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 54970790 54970790 C T SNP CSTF1 ENST00000490539 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CSTF1 HGNC ENSG00000101138 43 0 0 27 13 32.5 CDH4 0 genome.wustl.edu 37 20 60498761 60498761 + Silent SNP A A C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 60498761 60498761 A C SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known silent c.1627 p.R543 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin/Desmocollin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 70 0 0 21 12 36.3636 LSM14B 0 genome.wustl.edu 37 20 60704949 60704949 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 60704949 60704949 G A SNP LSM14B ENST00000279068 human ensembl 74_37 +1 known missense c.536 p.G179D 0.000 NULL pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14B HGNC ENSG00000149657 32 0 0 14 7 33.3333 DIDO1 0 genome.wustl.edu 37 20 61511147 61511147 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 61511147 61511147 G A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.6161 p.A2054V 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 165 0 0 98 51 34.2282 YTHDF1 0 genome.wustl.edu 37 20 61833843 61833843 + Silent SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 61833843 61833843 A G SNP YTHDF1 ENST00000370339 human ensembl 74_37 -1 known silent c.1449 p.D483 1.000 pfam_YTH_domain,pfscan_YTH_domain pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF1 HGNC ENSG00000149658 77 0 0 46 32 41.0256 OPRL1 0 genome.wustl.edu 37 20 62729906 62729906 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 62729906 62729906 G A SNP OPRL1 ENST00000336866 human ensembl 74_37 +1 known silent c.867 p.G289 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRL1 HGNC ENSG00000125510 58 0 0 44 23 34.3284 NRIP1 0 genome.wustl.edu 37 21 16339973 16339973 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 21 16339973 16339973 C T SNP NRIP1 ENST00000318948 human ensembl 74_37 -1 known missense c.541 p.A181T 1.000 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 70 0 0 16 15 48.3871 USP25 0 genome.wustl.edu 37 21 17205809 17205809 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 21 17205809 17205809 G A SNP USP25 ENST00000400183 human ensembl 74_37 +1 known silent c.2136 p.L712 1.000 NULL pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP25 HGNC ENSG00000155313 43 0 0 7 17 70.8333 HUNK 0 genome.wustl.edu 37 21 33370854 33370854 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 21 33370854 33370854 G A SNP HUNK ENST00000270112 human ensembl 74_37 +1 known missense c.1502 p.R501H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HUNK HGNC ENSG00000142149 131 0 0 31 39 55.7143 CRYZL1 0 genome.wustl.edu 37 21 34997046 34997046 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 21 34997046 34997046 C T SNP CRYZL1 ENST00000381554 human ensembl 74_37 -1 known silent c.87 p.E29 0.995 superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors CRYZL1 HGNC ENSG00000205758 107 0 0 15 32 68.0851 ABCG1 0 genome.wustl.edu 37 21 43691237 43691237 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 21 43691237 43691237 C T SNP ABCG1 ENST00000398437 human ensembl 74_37 +1 known missense c.782 p.A261V 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 102 0 0 18 13 41.9355 RRP1 0 genome.wustl.edu 37 21 45217248 45217248 + RNA SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 21 45217248 45217248 G T SNP RRP1 ENST00000471909 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors RRP1 HGNC ENSG00000160214 34 0 0 7 6 46.1538 POFUT2 0 genome.wustl.edu 37 21 46705687 46705687 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 21 46705687 46705687 G A SNP POFUT2 ENST00000349485 human ensembl 74_37 -1 known silent c.288 p.D96 0.998 pfam_GDP-Fuc_O-FucTrfase pfam_GDP-Fuc_O-FucTrfase,superfamily_DUF749 - no_errors POFUT2 HGNC ENSG00000186866 137 0 0 43 54 55.6701 COL6A1 0 genome.wustl.edu 37 21 47419132 47419132 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 21 47419132 47419132 G T SNP COL6A1 ENST00000361866 human ensembl 74_37 +1 known missense c.1740 p.Q580H 1.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 19 0 0 5 3 37.5 PCNT 0 genome.wustl.edu 37 21 47821588 47821588 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 21 47821588 47821588 A G SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.4915 p.I1639V 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 117 1 0.847458 61 5 7.57576 PRMT2 0 genome.wustl.edu 37 21 48078788 48078788 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 21 48078788 48078788 G A SNP PRMT2 ENST00000355680 human ensembl 74_37 +1 known silent c.786 p.V262 0.997 pfam_Arg_MeTrfase pfam_SH3_domain,pfam_Arg_MeTrfase,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PRMT2 HGNC ENSG00000160310 51 0 0 11 11 50 DGCR8 0 genome.wustl.edu 37 22 20094884 20094884 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 22 20094884 20094884 G A SNP DGCR8 ENST00000351989 human ensembl 74_37 +1 known missense c.2087 p.R696H 1.000 NULL pfam_dsRNA-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsRNA-bd_dom,pfscan_WW_dom,pfscan_dsRNA-bd_dom - no_errors DGCR8 HGNC ENSG00000128191 120 0 0 44 24 35.2941 ZDHHC8 0 genome.wustl.edu 37 22 20131022 20131022 + Silent SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 22 20131022 20131022 C A SNP ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known silent c.1869 p.A623 0.285 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 23 0 0 8 10 55.5556 MYO18B 0 genome.wustl.edu 37 22 26193919 26193919 + Splice_Site SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 22 26193919 26193919 G T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known splice_site c.2377-1 e11-1 1.000 - - - no_errors MYO18B HGNC ENSG00000133454 145 0 0 67 20 22.9885 MTMR3 0 genome.wustl.edu 37 22 30403965 30403965 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 22 30403965 30403965 G A SNP MTMR3 ENST00000401950 human ensembl 74_37 +1 known missense c.953 p.R318H 1.000 pfam_Myotubularin-like_Pase_dom 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 45 0 0 49 4 7.54717 SMTN 0 genome.wustl.edu 37 22 31496972 31496972 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 22 31496972 31496972 G A SNP SMTN ENST00000333137 human ensembl 74_37 +1 known missense c.2705 p.R902H 1.000 pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 29 0 0 16 9 36 TRIOBP 0 genome.wustl.edu 37 22 38131430 38131430 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 22 38131430 38131430 C A SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.5087 p.P1696H 0.583 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 12 0 0 8 4 33.3333 SLC16A8 0 genome.wustl.edu 37 22 38476959 38476959 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 22 38476959 38476959 C T SNP SLC16A8 ENST00000320521 human ensembl 74_37 -1 known silent c.1086 p.A362 0.796 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A8 HGNC ENSG00000100156 13 0 0 6 4 40 TMEM184B 0 genome.wustl.edu 37 22 38621509 38621509 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 22 38621509 38621509 G A SNP TMEM184B ENST00000361684 human ensembl 74_37 -1 known missense c.709 p.R237W 0.745 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184B HGNC ENSG00000198792 85 0 0 50 23 31.5068 LOC100506679 0 genome.wustl.edu 37 22 43435697 43435697 + RNA SNP A A T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 22 43435697 43435697 A T SNP LOC100506679 ENST00000443063 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AL022476.2 Clone_based_vega_gene ENSG00000230319 39 0 0 31 14 31.1111 SCUBE1 0 genome.wustl.edu 37 22 43610096 43610096 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 22 43610096 43610096 C A SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known missense c.2053 p.G685C 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 30 0 0 16 4 20 WNT7B 0 genome.wustl.edu 37 22 46345856 46345856 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 22 46345856 46345856 C T SNP WNT7B ENST00000339464 human ensembl 74_37 -1 known missense c.242 p.R81H 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7B HGNC ENSG00000188064 62 0 0 39 15 27.7778 ALG12 0 genome.wustl.edu 37 22 50297834 50297834 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 22 50297834 50297834 C T SNP ALG12 ENST00000330817 human ensembl 74_37 -1 known missense c.1231 p.A411T 0.637 NULL pfam_GPI_mannosylTrfase - no_errors ALG12 HGNC ENSG00000182858 57 0 0 35 25 41.6667 IMPG2 0 genome.wustl.edu 37 3 100964796 100964796 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 100964796 100964796 C T SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known missense c.1393 p.A465T 0.233 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 107 0 0 72 33 31.4286 CASR 0 genome.wustl.edu 37 3 121981056 121981056 + Nonsense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 121981056 121981056 C T SNP CASR ENST00000498619 human ensembl 74_37 +1 known nonsense c.1174 p.R392* 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 89 0 0 54 20 27.027 EEFSEC 0 genome.wustl.edu 37 3 127983467 127983467 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 127983467 127983467 C T SNP EEFSEC ENST00000254730 human ensembl 74_37 +1 known missense c.629 p.T210M 0.859 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EEFSEC HGNC ENSG00000132394 155 0 0 112 44 28.2051 CAND2 0 genome.wustl.edu 37 3 12867068 12867068 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 12867068 12867068 G A SNP CAND2 ENST00000456430 human ensembl 74_37 +1 known missense c.3140 p.R1047Q 1.000 pfam_TATA-bd_TIP120,superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 27 0 0 7 6 46.1538 KIAA1257 0 genome.wustl.edu 37 3 128696934 128696934 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 128696934 128696934 C T SNP KIAA1257 ENST00000265068 human ensembl 74_37 -1 known silent c.762 p.P254 0.000 NULL NULL - no_errors KIAA1257 HGNC ENSG00000114656 73 0 0 51 23 31.0811 COL6A6 0 genome.wustl.edu 37 3 130377519 130377519 + Splice_Site SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 130377519 130377519 G T SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known splice_site c.5734-1 e33-1 1.000 - - - no_errors COL6A6 HGNC ENSG00000206384 23 0 0 10 5 33.3333 TF 0 genome.wustl.edu 37 3 133475165 133475165 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 133475165 133475165 G A SNP TF ENST00000402696 human ensembl 74_37 +1 known silent c.675 p.K225 0.992 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 38 0 0 30 5 14.2857 MSL2 0 genome.wustl.edu 37 3 135871069 135871069 + Silent SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 135871069 135871069 A G SNP MSL2 ENST00000309993 human ensembl 74_37 -1 known silent c.654 p.I218 0.957 NULL pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 66 0 0 47 18 27.6923 TRPC1 0 genome.wustl.edu 37 3 142467219 142467219 + Silent SNP A A T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 142467219 142467219 A T SNP TRPC1 ENST00000476941 human ensembl 74_37 +1 known silent c.549 p.V183 0.716 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 150 0 0 152 54 26.2136 IGSF10 0 genome.wustl.edu 37 3 151171285 151171285 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 151171285 151171285 G T SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.602 p.P201H 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 100 0 0 86 19 18.0952 PLCH1 0 genome.wustl.edu 37 3 155200527 155200527 + Silent SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 155200527 155200527 A G SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known silent c.3312 p.G1104 0.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 182 0 0 150 48 24.2424 KCNAB1 0 genome.wustl.edu 37 3 156232161 156232161 + Nonsense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 156232161 156232161 C T SNP KCNAB1 ENST00000490337 human ensembl 74_37 +1 known nonsense c.667 p.R223* 0.991 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,tigrfam_K_chnl_volt-dep_bsu_KCNAB pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB1 HGNC ENSG00000169282 98 0 0 77 28 26.6667 IL12A 0 genome.wustl.edu 37 3 159713213 159713213 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 159713213 159713213 C T SNP IL12A ENST00000305579 human ensembl 74_37 +1 known missense c.629 p.T210I 0.001 pfam_IL-12_alpha,superfamily_4_helix_cytokine-like_core pfam_IL-12_alpha,superfamily_4_helix_cytokine-like_core - no_errors IL12A HGNC ENSG00000168811 80 0 0 88 13 12.8713 SI 0 genome.wustl.edu 37 3 164777022 164777022 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 164777022 164777022 C T SNP SI ENST00000264382 human ensembl 74_37 -1 known silent c.1212 p.A404 0.021 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 46 0 0 44 21 32.3077 SLC7A14 0 genome.wustl.edu 37 3 170184995 170184995 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 170184995 170184995 C T SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.2164 p.G722R 1.000 NULL pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 83 0 0 81 26 24.2991 SLC7A14 0 genome.wustl.edu 37 3 170216628 170216628 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 170216628 170216628 G A SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.587 p.A196V 0.997 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 77 0 0 77 19 19.7917 ECT2 0 genome.wustl.edu 37 3 172520688 172520688 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 172520688 172520688 G A SNP ECT2 ENST00000427830 human ensembl 74_37 +1 known missense c.1931 p.R644Q 1.000 NULL pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain - no_errors ECT2 HGNC ENSG00000114346 65 0 0 50 11 18.0328 KCNMB2 0 genome.wustl.edu 37 3 178546038 178546038 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 178546038 178546038 C T SNP KCNMB2 ENST00000358316 human ensembl 74_37 +1 known silent c.300 p.S100 1.000 pfam_K_chnl_Ca-activ_BK_bsu pfam_K_chnl_Ca-activ_BK_bsu,pfam_KCNMB2_ball_chain_dom,prints_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB2 HGNC ENSG00000197584 74 0 0 64 20 23.8095 PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_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 PIK3CA HGNC ENSG00000121879 55 0 0 54 16 22.8571 DVL3 0 genome.wustl.edu 37 3 183884279 183884279 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 183884279 183884279 C T SNP DVL3 ENST00000313143 human ensembl 74_37 +1 known missense c.949 p.R317W 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3 - no_errors DVL3 HGNC ENSG00000161202 145 0 0 92 40 30.303 ABCF3 0 genome.wustl.edu 37 3 183908990 183908990 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 183908990 183908990 G A SNP ABCF3 ENST00000429586 human ensembl 74_37 +1 known missense c.1516 p.V506I 0.160 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF3 HGNC ENSG00000161204 169 0 0 170 36 17.4757 CLCN2 0 genome.wustl.edu 37 3 184075423 184075423 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 184075423 184075423 C T SNP CLCN2 ENST00000265593 human ensembl 74_37 -1 known missense c.757 p.A253T 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2 - no_errors CLCN2 HGNC ENSG00000114859 109 0 0 66 20 23.2558 HRG 0 genome.wustl.edu 37 3 186395311 186395311 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 186395311 186395311 C A SNP HRG ENST00000232003 human ensembl 74_37 +1 known missense c.1217 p.P406H 0.121 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors HRG HGNC ENSG00000113905 19 0 0 18 4 18.1818 LRRC15 0 genome.wustl.edu 37 3 194080887 194080887 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 194080887 194080887 G A SNP LRRC15 ENST00000439944 human ensembl 74_37 -1 known missense c.904 p.R302W 0.257 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC ENSG00000172061 93 0 0 73 28 27.7228 TMEM44 0 genome.wustl.edu 37 3 194344395 194344395 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 194344395 194344395 G A SNP TMEM44 ENST00000392432 human ensembl 74_37 -1 known missense c.388 p.R130W 0.920 NULL NULL - no_errors TMEM44 HGNC ENSG00000145014 60 0 0 47 11 18.9655 MUC4 0 genome.wustl.edu 37 3 195501057 195501057 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 195501057 195501057 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.13063 p.R4355C 0.794 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 35 0 0 22 12 35.2941 TNK2 0 genome.wustl.edu 37 3 195611844 195611844 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 195611844 195611844 G A SNP TNK2 ENST00000381916 human ensembl 74_37 -1 known missense c.484 p.R162W 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 71 0 0 54 16 22.8571 NKIRAS1 0 genome.wustl.edu 37 3 23952392 23952392 + Nonsense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 23952392 23952392 C A SNP NKIRAS1 ENST00000388759 human ensembl 74_37 -1 known nonsense c.4 p.G2* 1.000 superfamily_P-loop_NTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors NKIRAS1 HGNC ENSG00000197885 62 0 0 24 15 38.4615 DYNC1LI1 0 genome.wustl.edu 37 3 32612171 32612171 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 32612171 32612171 G A SNP DYNC1LI1 ENST00000273130 human ensembl 74_37 -1 known missense c.92 p.A31V 0.146 NULL pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI1 HGNC ENSG00000144635 22 0 0 14 6 30 LRRFIP2 0 genome.wustl.edu 37 3 37149577 37149577 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 37149577 37149577 C T SNP LRRFIP2 ENST00000336686 human ensembl 74_37 -1 known missense c.701 p.R234Q 1.000 NULL pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin - no_errors LRRFIP2 HGNC ENSG00000093167 52 0 0 26 11 29.7297 DLEC1 0 genome.wustl.edu 37 3 38163221 38163221 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 38163221 38163221 G A SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known missense c.4969 p.V1657I 0.939 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 96 0 0 53 17 24.2857 RPSA 0 genome.wustl.edu 37 3 39452388 39452388 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 39452388 39452388 G T SNP RPSA ENST00000301821 human ensembl 74_37 +1 known missense c.396 p.Q132H 1.000 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc - no_errors RPSA HGNC ENSG00000168028 55 0 0 46 17 26.9841 KLHL40 0 genome.wustl.edu 37 3 42727728 42727728 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 42727728 42727728 C T SNP KLHL40 ENST00000287777 human ensembl 74_37 +1 known silent c.618 p.D206 0.995 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL40 HGNC ENSG00000157119 14 0 0 8 5 38.4615 KIAA1143 0 genome.wustl.edu 37 3 44795024 44795024 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 44795024 44795024 C T SNP KIAA1143 ENST00000296121 human ensembl 74_37 -1 known missense c.274 p.D92N 1.000 NULL NULL - no_errors KIAA1143 HGNC ENSG00000163807 65 0 0 37 21 36.2069 CDCP1 0 genome.wustl.edu 37 3 45136923 45136923 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 45136923 45136923 T C SNP CDCP1 ENST00000296129 human ensembl 74_37 -1 known missense c.1162 p.T388A 1.000 NULL superfamily_CUB_dom - no_errors CDCP1 HGNC ENSG00000163814 55 0 0 30 22 42.3077 FYCO1 0 genome.wustl.edu 37 3 45965194 45965194 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 45965194 45965194 G A SNP FYCO1 ENST00000535325 human ensembl 74_37 -1 known missense c.4375 p.R1459C 0.986 superfamily_GOLD,pfscan_GOLD pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 140 0 0 64 42 39.6226 PTPN23 0 genome.wustl.edu 37 3 47453790 47453790 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 47453790 47453790 C T SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known missense c.4196 p.T1399M 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 151 0 0 74 37 33.3333 ENSG00000271161 0 genome.wustl.edu 37 3 47541373 47541373 + RNA SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 47541373 47541373 C A SNP ENSG00000271161 ENST00000604904 human ensembl 74_37 +1 known rna NULL NULL 0.170 - - - no_errors RP11-708J19.2 Clone_based_vega_gene ENSG00000271161 8 0 0 4 4 50 DHX30 0 genome.wustl.edu 37 3 47882645 47882645 + Silent SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 47882645 47882645 C A SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known silent c.645 p.S215 0.997 NULL pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 35 0 0 13 10 43.4783 CELSR3 0 genome.wustl.edu 37 3 48698423 48698423 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 48698423 48698423 G A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.1645 p.R549C 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 48 0 0 34 14 29.1667 BSN 0 genome.wustl.edu 37 3 49691512 49691512 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 49691512 49691512 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.4523 p.T1508M 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 120 0 0 65 42 39.2523 CAMKV 0 genome.wustl.edu 37 3 49899527 49899527 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 49899527 49899527 C T SNP CAMKV ENST00000477224 human ensembl 74_37 -1 known missense c.178 p.G60S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMKV HGNC ENSG00000164076 35 0 0 25 9 26.4706 GNAT1 0 genome.wustl.edu 37 3 50231088 50231088 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 50231088 50231088 G A SNP GNAT1 ENST00000232461 human ensembl 74_37 +1 known silent c.441 p.S147 0.004 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT1 HGNC ENSG00000114349 55 0 0 27 18 40 LOC101928965 0 genome.wustl.edu 37 3 50403335 50403335 + RNA SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 50403335 50403335 C T SNP LOC101928965 ENST00000607121 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors XXcos-LUCA11.4 Clone_based_vega_gene ENSG00000271858 32 0 0 22 5 18.5185 RAD54L2 0 genome.wustl.edu 37 3 51696873 51696873 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 51696873 51696873 G A SNP RAD54L2 ENST00000409535 human ensembl 74_37 +1 known missense c.3841 p.V1281M 0.998 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 26 0 0 25 10 28.5714 IQCF2 0 genome.wustl.edu 37 3 51895714 51895714 + RNA SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 51895714 51895714 C T SNP IQCF2 ENST00000429548 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors IQCF2 HGNC ENSG00000184345 78 0 0 27 14 34.1463 PARP3 0 genome.wustl.edu 37 3 51981696 51981696 + RNA SNP C C G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 51981696 51981696 C G SNP PARP3 ENST00000486510 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PARP3 HGNC ENSG00000041880 23 0 0 27 15 35.7143 STAB1 0 genome.wustl.edu 37 3 52539377 52539377 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 52539377 52539377 C T SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.1561 p.R521C 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 39 0 0 18 9 33.3333 ARF4 0 genome.wustl.edu 37 3 57582804 57582804 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 57582804 57582804 T C SNP ARF4 ENST00000303436 human ensembl 74_37 -1 known missense c.64 p.M22V 1.000 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARF4 HGNC ENSG00000168374 52 0 0 21 16 43.2432 FLNB 0 genome.wustl.edu 37 3 58109159 58109159 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 58109159 58109159 G A SNP FLNB ENST00000295956 human ensembl 74_37 +1 known missense c.3466 p.V1156I 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 147 0 0 83 37 30.8333 KCTD6 0 genome.wustl.edu 37 3 58484416 58484416 + RNA SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 58484416 58484416 A G SNP KCTD6 ENST00000479470 human ensembl 74_37 +1 putative rna NULL NULL 0.077 - - - no_errors KCTD6 HGNC ENSG00000168301 84 0 0 56 33 37.0787 FAM3D 0 genome.wustl.edu 37 3 58620027 58620027 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 58620027 58620027 G A SNP FAM3D ENST00000358781 human ensembl 74_37 -1 known silent c.654 p.C218 0.874 NULL NULL - no_errors FAM3D HGNC ENSG00000198643 125 0 0 57 27 32.1429 SLC25A26 0 genome.wustl.edu 37 3 66293695 66293695 + Missense_Mutation SNP A A T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 66293695 66293695 A T SNP SLC25A26 ENST00000354883 human ensembl 74_37 +1 known missense c.259 p.T87S 0.731 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A26 HGNC ENSG00000144741 150 0 0 81 30 27.027 FOXP1 0 genome.wustl.edu 37 3 71090609 71090609 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 71090609 71090609 T C SNP FOXP1 ENST00000318789 human ensembl 74_37 -1 known missense c.739 p.N247D 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 99 0 0 56 15 21.1268 FAM86DP 0 genome.wustl.edu 37 3 75475685 75475685 + RNA SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 75475685 75475685 A G SNP FAM86DP ENST00000459803 human ensembl 74_37 -1 known rna NULL NULL 0.028 - - - no_errors FAM86DP HGNC ENSG00000244026 90 0 0 62 4 6.06061 SSUH2 0 genome.wustl.edu 37 3 8675523 8675523 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 8675523 8675523 G A SNP SSUH2 ENST00000317371 human ensembl 74_37 -1 known silent c.102 p.G34 0.000 NULL superfamily_HSP_DnaJ_Cys-rich_dom - no_errors SSUH2 HGNC ENSG00000125046 45 0 0 43 7 14 PROS1 0 genome.wustl.edu 37 3 93605255 93605255 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 93605255 93605255 C T SNP PROS1 ENST00000394236 human ensembl 74_37 -1 known silent c.1248 p.P416 0.072 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC ENSG00000184500 174 0 0 109 33 23.2394 EPHA6 0 genome.wustl.edu 37 3 96706798 96706798 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 96706798 96706798 T C SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.1075 p.C359R 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 78 0 0 39 20 33.8983 CENPE 0 genome.wustl.edu 37 4 104065724 104065724 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 104065724 104065724 T C SNP CENPE ENST00000265148 human ensembl 74_37 -1 known missense c.4909 p.N1637D 0.001 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 59 0 0 31 13 29.5455 SEC24B 0 genome.wustl.edu 37 4 110384496 110384496 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 110384496 110384496 C T SNP SEC24B ENST00000265175 human ensembl 74_37 +1 known silent c.573 p.A191 0.403 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 SEC24B HGNC ENSG00000138802 252 0 0 150 65 30.2326 FAT4 0 genome.wustl.edu 37 4 126370871 126370871 + Silent SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 126370871 126370871 T C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.8700 p.D2900 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 127 0 0 79 33 29.4643 NKX3-2 0 genome.wustl.edu 37 4 13545921 13545921 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 13545921 13545921 C T SNP NKX3-2 ENST00000382438 human ensembl 74_37 -1 known missense c.118 p.A40T 0.978 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX3-2 HGNC ENSG00000109705 9 0 0 1 4 80 MGARP 0 genome.wustl.edu 37 4 140188117 140188117 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 140188117 140188117 A G SNP MGARP ENST00000398955 human ensembl 74_37 -1 known missense c.359 p.V120A 0.000 NULL NULL - no_errors MGARP HGNC ENSG00000137463 222 0 0 124 60 32.6087 SH3D19 0 genome.wustl.edu 37 4 152069209 152069209 + Silent SNP A A T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 152069209 152069209 A T SNP SH3D19 ENST00000304527 human ensembl 74_37 -1 known silent c.1107 p.S369 1.000 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SH3D19 HGNC ENSG00000109686 105 0 0 56 28 33.3333 FSTL5 0 genome.wustl.edu 37 4 162307519 162307519 + Silent SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 162307519 162307519 A G SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known silent c.1924 p.L642 1.000 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 52 0 0 28 16 36.3636 TRIM61 0 genome.wustl.edu 37 4 165891048 165891048 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 165891048 165891048 C T SNP TRIM61 ENST00000329314 human ensembl 74_37 -1 known missense c.107 p.C36Y 0.993 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM61 HGNC ENSG00000183439 64 0 0 44 14 24.1379 KLHL2 0 genome.wustl.edu 37 4 166238988 166238988 + Silent SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 166238988 166238988 A G SNP KLHL2 ENST00000226725 human ensembl 74_37 +1 known silent c.1620 p.A540 0.999 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,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 KLHL2 HGNC ENSG00000109466 111 0 0 56 21 27.2727 IRF2 0 genome.wustl.edu 37 4 185310135 185310135 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 185310135 185310135 C T SNP IRF2 ENST00000393593 human ensembl 74_37 -1 known missense c.827 p.G276D 1.000 pirsf_Interferon_reg_fac-1/2 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF2 HGNC ENSG00000168310 217 0 0 98 48 32.8767 KIAA1430 0 genome.wustl.edu 37 4 186112044 186112044 + Missense_Mutation SNP A A T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 186112044 186112044 A T SNP KIAA1430 ENST00000296775 human ensembl 74_37 -1 known missense c.307 p.L103M 0.000 NULL NULL - no_errors KIAA1430 HGNC ENSG00000164323 21 0 0 17 6 26.087 MTNR1A 0 genome.wustl.edu 37 4 187454886 187454886 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 187454886 187454886 G T SNP MTNR1A ENST00000307161 human ensembl 74_37 -1 known missense c.1010 p.P337Q 0.997 prints_Mel_1A_rcpt,prints_Mel_rcpt_1C pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_Mel_1A_rcpt,prints_NPY_rcpt,prints_Mel_rcpt_1C - no_errors MTNR1A HGNC ENSG00000168412 129 0 0 66 43 39.4495 FAT1 0 genome.wustl.edu 37 4 187534385 187534385 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 187534385 187534385 G A SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.9341 p.T3114M 0.388 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 72 0 0 76 4 5 SLIT2 0 genome.wustl.edu 37 4 20512694 20512694 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 20512694 20512694 T C SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.992 p.L331P 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 68 0 0 36 29 44.6154 ZFYVE28 0 genome.wustl.edu 37 4 2306598 2306598 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 2306598 2306598 C T SNP ZFYVE28 ENST00000290974 human ensembl 74_37 -1 known missense c.1469 p.G490D 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 80 0 0 56 30 34.8837 C4orf19 0 genome.wustl.edu 37 4 37592069 37592069 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 37592069 37592069 C T SNP C4orf19 ENST00000284437 human ensembl 74_37 +1 known missense c.392 p.P131L 0.002 NULL NULL - no_errors C4orf19 HGNC ENSG00000154274 111 0 0 76 36 32.1429 TLR6 0 genome.wustl.edu 37 4 38830420 38830420 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 38830420 38830420 C T SNP TLR6 ENST00000381950 human ensembl 74_37 -1 known silent c.675 p.L225 0.886 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,pfam_Cys-rich_flank_reg_C,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR6 HGNC ENSG00000174130 52 0 0 30 13 30.2326 PIGG 0 genome.wustl.edu 37 4 533012 533012 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 533012 533012 G A SNP PIGG ENST00000453061 human ensembl 74_37 +1 known missense c.2806 p.V936I 0.065 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 96 0 0 34 24 41.3793 SRD5A3 0 genome.wustl.edu 37 4 56236103 56236103 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 56236103 56236103 G A SNP SRD5A3 ENST00000264228 human ensembl 74_37 +1 known missense c.802 p.V268I 0.981 pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors SRD5A3 HGNC ENSG00000128039 103 0 0 61 33 35.1064 EVC2 0 genome.wustl.edu 37 4 5696067 5696067 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 5696067 5696067 G A SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.445 p.R149C 0.003 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 78 0 0 30 18 37.5 NOA1 0 genome.wustl.edu 37 4 57843591 57843591 + Missense_Mutation SNP T T G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 57843591 57843591 T G SNP NOA1 ENST00000264230 human ensembl 74_37 -1 known missense c.161 p.Y54S 0.000 NULL superfamily_P-loop_NTPase - no_errors NOA1 HGNC ENSG00000084092 79 0 0 59 25 29.7619 UBA6-AS1 0 genome.wustl.edu 37 4 68928686 68928686 + RNA SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 68928686 68928686 G A SNP UBA6-AS1 ENST00000500538 human ensembl 74_37 +1 known rna NULL NULL 0.131 - - - no_errors UBA6-AS1 HGNC ENSG00000248049 152 0 0 87 49 36.0294 CCDC96 0 genome.wustl.edu 37 4 7043818 7043818 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 7043818 7043818 G A SNP CCDC96 ENST00000310085 human ensembl 74_37 -1 known missense c.848 p.A283V 0.104 NULL NULL - no_errors CCDC96 HGNC ENSG00000173013 215 0 0 134 35 20.7101 AFM 0 genome.wustl.edu 37 4 74367503 74367503 + Splice_Site SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 74367503 74367503 G T SNP AFM ENST00000226355 human ensembl 74_37 +1 known splice_site c.1647-1 e13-1 0.996 - - - no_errors AFM HGNC ENSG00000079557 33 0 0 24 10 29.4118 CXCL10 0 genome.wustl.edu 37 4 76943854 76943854 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 76943854 76943854 C T SNP CXCL10 ENST00000306602 human ensembl 74_37 -1 known missense c.178 p.V60I 0.674 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors CXCL10 HGNC ENSG00000169245 112 0 0 61 30 32.967 HPSE 0 genome.wustl.edu 37 4 84234371 84234371 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 84234371 84234371 G A SNP HPSE ENST00000311412 human ensembl 74_37 -1 known missense c.569 p.A190V 0.996 pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE HGNC ENSG00000173083 85 0 0 45 8 15.0943 WDFY3 0 genome.wustl.edu 37 4 85708812 85708812 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 85708812 85708812 C T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.3724 p.V1242M 1.000 superfamily_ConA-like_lec_gl_sf pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 55 0 0 34 13 27.6596 CPZ 0 genome.wustl.edu 37 4 8621094 8621094 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 8621094 8621094 G A SNP CPZ ENST00000360986 human ensembl 74_37 +1 known missense c.1709 p.R570Q 0.036 superfamily_CarboxyPept-like_regulatory,smart_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 60 0 0 34 13 27.6596 ABCG2 0 genome.wustl.edu 37 4 89034590 89034590 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 89034590 89034590 G A SNP ABCG2 ENST00000237612 human ensembl 74_37 -1 known silent c.1059 p.S353 0.000 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG2 HGNC ENSG00000118777 167 0 0 87 38 30.4 PPM1K 0 genome.wustl.edu 37 4 89199582 89199582 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 89199582 89199582 G A SNP PPM1K ENST00000608933 human ensembl 74_37 -1 known missense c.154 p.P52S 0.173 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1K HGNC ENSG00000163644 60 0 0 35 30 46.1538 MMRN1 0 genome.wustl.edu 37 4 90857091 90857091 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 90857091 90857091 A G SNP MMRN1 ENST00000264790 human ensembl 74_37 +1 known missense c.2260 p.T754A 0.000 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MMRN1 HGNC ENSG00000138722 53 0 0 38 16 29.6296 GRID2 0 genome.wustl.edu 37 4 94376916 94376916 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 94376916 94376916 G A SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.1649 p.R550Q 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 126 0 0 74 35 32.1101 TMEM175 0 genome.wustl.edu 37 4 951613 951613 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 951613 951613 G A SNP TMEM175 ENST00000264771 human ensembl 74_37 +1 known missense c.844 p.E282K 0.999 pfam_DUF1211_TMEM175 pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC ENSG00000127419 113 0 0 67 30 30.9278 BMPR1B 0 genome.wustl.edu 37 4 96052573 96052573 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 96052573 96052573 C T SNP BMPR1B ENST00000440890 human ensembl 74_37 +1 known missense c.1076 p.A359V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors BMPR1B HGNC ENSG00000138696 86 0 0 61 29 32.2222 METAP1 0 genome.wustl.edu 37 4 99960602 99960602 + Nonsense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 99960602 99960602 C T SNP METAP1 ENST00000296411 human ensembl 74_37 +1 known nonsense c.418 p.R140* 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1 - no_errors METAP1 HGNC ENSG00000164024 91 0 0 50 15 23.0769 WDR36 0 genome.wustl.edu 37 5 110446959 110446959 + Missense_Mutation SNP A A C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 110446959 110446959 A C SNP WDR36 ENST00000506538 human ensembl 74_37 +1 known missense c.1866 p.Q622H 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 207 0 0 96 49 33.7931 APC 0 genome.wustl.edu 37 5 112176209 112176209 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 112176209 112176209 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.4918 p.R1640W 0.657 pfam_APC_Cys-rich_rpt pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 127 1 0.78125 73 22 23.1579 SEMA6A 0 genome.wustl.edu 37 5 115782634 115782634 + Missense_Mutation SNP T T A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 115782634 115782634 T A SNP SEMA6A ENST00000257414 human ensembl 74_37 -1 known missense c.2819 p.N940I 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6A HGNC ENSG00000092421 85 0 0 51 15 22.7273 TERT 0 genome.wustl.edu 37 5 1255409 1255409 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 1255409 1255409 C A SNP TERT ENST00000310581 human ensembl 74_37 -1 known missense c.3150 p.K1050N 1.000 NULL pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 29 0 0 21 5 19.2308 ALDH7A1 0 genome.wustl.edu 37 5 125912806 125912806 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 125912806 125912806 G A SNP ALDH7A1 ENST00000409134 human ensembl 74_37 -1 known silent c.615 p.N205 0.745 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH7A1 HGNC ENSG00000164904 75 0 0 35 15 30 ISOC1 0 genome.wustl.edu 37 5 128440935 128440935 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 128440935 128440935 G T SNP ISOC1 ENST00000173527 human ensembl 74_37 +1 known missense c.487 p.G163C 1.000 pfam_Isochorismatase-like,superfamily_Isochorismatase-like pfam_Isochorismatase-like,superfamily_Isochorismatase-like - no_errors ISOC1 HGNC ENSG00000066583 80 0 0 38 8 17.3913 CHSY3 0 genome.wustl.edu 37 5 129521238 129521238 + Silent SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 129521238 129521238 A G SNP CHSY3 ENST00000305031 human ensembl 74_37 +1 known silent c.2403 p.Q801 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 105 0 0 60 26 30.2326 RAPGEF6 0 genome.wustl.edu 37 5 130828390 130828390 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 130828390 130828390 T C SNP RAPGEF6 ENST00000509018 human ensembl 74_37 -1 known missense c.1616 p.E539G 1.000 pfam_PDZ,superfamily_Ras_GEF_dom,superfamily_PDZ,pfscan_PDZ pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 80 0 0 49 25 33.7838 RAPGEF6 0 genome.wustl.edu 37 5 130828445 130828445 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 130828445 130828445 C T SNP RAPGEF6 ENST00000509018 human ensembl 74_37 -1 known missense c.1561 p.A521T 1.000 superfamily_Ras_GEF_dom,superfamily_PDZ,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 62 0 0 36 20 35.7143 TRPC7-AS2 0 genome.wustl.edu 37 5 135651494 135651494 + RNA SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 135651494 135651494 T C SNP TRPC7-AS2 ENST00000513958 human ensembl 74_37 +1 known rna NULL NULL 0.988 - - - no_errors TRPC7-AS2 HGNC ENSG00000250947 28 0 0 11 5 31.25 REEP2 0 genome.wustl.edu 37 5 137780982 137780982 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 137780982 137780982 C T SNP REEP2 ENST00000378339 human ensembl 74_37 +1 known silent c.483 p.D161 0.870 NULL pfam_TB2_DP1_HVA22 - no_errors REEP2 HGNC ENSG00000132563 74 0 0 42 26 38.2353 EGR1 0 genome.wustl.edu 37 5 137803521 137803521 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 137803521 137803521 G A SNP EGR1 ENST00000239938 human ensembl 74_37 +1 known silent c.1383 p.P461 0.243 pfam_DUF3432 pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC ENSG00000120738 71 0 0 57 18 24 CTNNA1 0 genome.wustl.edu 37 5 138269735 138269735 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 138269735 138269735 C T SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known missense c.2678 p.P893L 0.998 NULL pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 59 0 0 32 15 31.9149 DNAH5 0 genome.wustl.edu 37 5 13919426 13919426 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 13919426 13919426 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.834 p.A278 0.001 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 241 0 0 121 51 29.6512 PCDHA5 0 genome.wustl.edu 37 5 140202594 140202594 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 140202594 140202594 C A SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known missense c.1234 p.L412M 0.037 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 262 0 0 179 55 23.5043 PCDHA7 0 genome.wustl.edu 37 5 140215588 140215588 + Silent SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 140215588 140215588 G T SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known silent c.1620 p.A540 0.972 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 208 0 0 141 76 35.023 PCDHA11 0 genome.wustl.edu 37 5 140250524 140250524 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 140250524 140250524 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known silent c.1836 p.P612 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 116 0 0 72 42 36.8421 PCDHB4 0 genome.wustl.edu 37 5 140501700 140501700 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 140501700 140501700 C T SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known silent c.120 p.S40 0.002 pfam_Cadherin_N,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 82 0 0 56 21 27.2727 PCDHB16 0 genome.wustl.edu 37 5 140564111 140564111 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 140564111 140564111 C T SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known silent c.1977 p.H659 0.088 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 PCDHB16 HGNC ENSG00000196963 105 0 0 74 44 37.2881 PCDHB10 0 genome.wustl.edu 37 5 140573523 140573523 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 140573523 140573523 C T SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known silent c.1398 p.P466 0.882 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 235 0 0 250 79 24.0122 PCDHGB2 0 genome.wustl.edu 37 5 140741226 140741226 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 140741226 140741226 C T SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known silent c.1524 p.S508 0.094 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 81 0 0 54 20 27.027 PCDHGA7 0 genome.wustl.edu 37 5 140762765 140762765 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 140762765 140762765 C T SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known missense c.299 p.A100V 0.073 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 85 0 0 45 14 23.7288 FCHSD1 0 genome.wustl.edu 37 5 141020111 141020111 + RNA SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 141020111 141020111 C T SNP FCHSD1 ENST00000523856 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FCHSD1 HGNC ENSG00000197948 20 0 0 7 5 41.6667 SLC6A3 0 genome.wustl.edu 37 5 1422074 1422074 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 1422074 1422074 G A SNP SLC6A3 ENST00000270349 human ensembl 74_37 -1 known missense c.709 p.R237W 0.989 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 106 0 0 64 42 39.6226 SPINK5 0 genome.wustl.edu 37 5 147480951 147480951 + Silent SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 147480951 147480951 A G SNP SPINK5 ENST00000359874 human ensembl 74_37 +1 known silent c.1254 p.E418 0.948 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 33 0 0 21 10 32.2581 SH3TC2 0 genome.wustl.edu 37 5 148422396 148422396 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 148422396 148422396 G A SNP SH3TC2 ENST00000515425 human ensembl 74_37 -1 known silent c.390 p.Y130 0.954 NULL pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 102 0 0 56 22 28.2051 CCDC69 0 genome.wustl.edu 37 5 150603603 150603603 + RNA SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 150603603 150603603 G A SNP CCDC69 ENST00000521308 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors CCDC69 HGNC ENSG00000198624 13 0 0 10 9 47.3684 GM2A 0 genome.wustl.edu 37 5 150646383 150646383 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 150646383 150646383 G A SNP GM2A ENST00000357164 human ensembl 74_37 +1 known missense c.335 p.C112Y 1.000 smart_ML_dom smart_ML_dom - no_errors GM2A HGNC ENSG00000196743 118 0 0 59 31 34.4444 CYFIP2 0 genome.wustl.edu 37 5 156752567 156752567 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 156752567 156752567 A G SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.1978 p.I660V 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 29 0 0 18 16 47.0588 FBXL7 0 genome.wustl.edu 37 5 15928475 15928475 + Nonsense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 15928475 15928475 C T SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known nonsense c.604 p.R202* 0.997 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 38 0 0 24 9 27.2727 TENM2 0 genome.wustl.edu 37 5 167545433 167545433 + Silent SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 167545433 167545433 C A SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known silent c.1950 p.S650 1.000 pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 255 0 0 130 72 35.6436 CDHR2 0 genome.wustl.edu 37 5 176004677 176004677 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 176004677 176004677 G A SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known missense c.1390 p.A464T 0.842 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 87 0 0 46 23 33.3333 UIMC1 0 genome.wustl.edu 37 5 176397788 176397788 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 176397788 176397788 C T SNP UIMC1 ENST00000377219 human ensembl 74_37 -1 known silent c.312 p.E104 0.992 NULL smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif - no_errors UIMC1 HGNC ENSG00000087206 146 0 0 70 39 35.7798 NSD1 0 genome.wustl.edu 37 5 176710894 176710894 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 176710894 176710894 G A SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.6116 p.R2039H 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 164 0 0 90 45 33.3333 DBN1 0 genome.wustl.edu 37 5 176885651 176885651 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 176885651 176885651 T C SNP DBN1 ENST00000292385 human ensembl 74_37 -1 known missense c.1190 p.Q397R 0.992 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors DBN1 HGNC ENSG00000113758 26 0 0 7 6 46.1538 RUFY1 0 genome.wustl.edu 37 5 178994485 178994485 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 178994485 178994485 C T SNP RUFY1 ENST00000319449 human ensembl 74_37 +1 known missense c.626 p.A209V 1.000 pfam_Run,smart_Run,pfscan_Run pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel,pfscan_Znf_RING - no_errors RUFY1 HGNC ENSG00000176783 61 0 0 24 21 46.6667 DROSHA 0 genome.wustl.edu 37 5 31407020 31407020 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 31407020 31407020 C T SNP DROSHA ENST00000344624 human ensembl 74_37 -1 known missense c.3887 p.R1296Q 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 81 0 0 39 14 26.4151 DROSHA 0 genome.wustl.edu 37 5 31526886 31526886 + Nonsense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 31526886 31526886 G A SNP DROSHA ENST00000344624 human ensembl 74_37 -1 known nonsense c.154 p.Q52* 1.000 NULL pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 35 0 0 19 7 26.9231 C5orf42 0 genome.wustl.edu 37 5 37164384 37164384 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 37164384 37164384 C T SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known missense c.7579 p.V2527I 0.818 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 61 0 0 31 11 26.1905 FYB 0 genome.wustl.edu 37 5 39202605 39202605 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 39202605 39202605 G A SNP FYB ENST00000540520 human ensembl 74_37 -1 known missense c.488 p.P163L 0.028 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 108 0 0 60 38 38.7755 FGF10 0 genome.wustl.edu 37 5 44388550 44388550 + Missense_Mutation SNP A A C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 44388550 44388550 A C SNP FGF10 ENST00000264664 human ensembl 74_37 -1 known missense c.235 p.W79G 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF10 HGNC ENSG00000070193 78 0 0 43 18 29.5082 KIAA0947 0 genome.wustl.edu 37 5 5466528 5466528 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 5466528 5466528 G A SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.5974 p.A1992T 0.996 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 49 0 0 32 9 21.9512 PLK2 0 genome.wustl.edu 37 5 57753096 57753096 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 57753096 57753096 G A SNP PLK2 ENST00000274289 human ensembl 74_37 -1 known missense c.920 p.A307V 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_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK2 HGNC ENSG00000145632 56 0 0 23 15 39.4737 ADAMTS6 0 genome.wustl.edu 37 5 64466574 64466574 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 64466574 64466574 C T SNP ADAMTS6 ENST00000381055 human ensembl 74_37 -1 known silent c.3114 p.Q1038 0.999 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 75 0 0 40 22 35.4839 BDP1 0 genome.wustl.edu 37 5 70812075 70812075 + Missense_Mutation SNP A A T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 70812075 70812075 A T SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.4837 p.T1613S 0.062 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 26 0 0 18 4 18.1818 PTCD2 0 genome.wustl.edu 37 5 71638851 71638851 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 71638851 71638851 C T SNP PTCD2 ENST00000308077 human ensembl 74_37 +1 known silent c.816 p.C272 0.227 NULL pfam_Ribosomal_S27_mit,tigrfam_Pentatricopeptide_repeat - no_errors PTCD2 HGNC ENSG00000049883 58 0 0 28 10 26.3158 PAPD4 0 genome.wustl.edu 37 5 78964728 78964728 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 78964728 78964728 C T SNP PAPD4 ENST00000296783 human ensembl 74_37 +1 known missense c.1085 p.P362L 1.000 NULL pfam_PAP_assoc - no_errors PAPD4 HGNC ENSG00000164329 177 0 0 93 52 35.8621 CMYA5 0 genome.wustl.edu 37 5 79031946 79031946 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 79031946 79031946 C T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.7358 p.P2453L 0.014 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 66 0 0 27 17 38.6364 GPR98 0 genome.wustl.edu 37 5 89949385 89949385 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 89949385 89949385 G A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.3994 p.G1332R 1.000 superfamily_ConA-like_lec_gl_sf pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 26 0 0 13 9 40.9091 FAM184A 0 genome.wustl.edu 37 6 119345439 119345439 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 119345439 119345439 C T SNP FAM184A ENST00000338891 human ensembl 74_37 -1 known missense c.699 p.M233I 0.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 68 0 0 46 19 29.2308 RNF217 0 genome.wustl.edu 37 6 125404057 125404057 + Nonsense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 125404057 125404057 C T SNP RNF217 ENST00000560949 human ensembl 74_37 +1 known nonsense c.898 p.R300* 0.994 NULL pfam_Znf_C6HC,smart_Znf_C6HC - no_errors RNF217 HGNC ENSG00000146373 39 0 0 12 7 36.8421 RANBP9 0 genome.wustl.edu 37 6 13634728 13634728 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 13634728 13634728 G A SNP RANBP9 ENST00000011619 human ensembl 74_37 -1 known missense c.1730 p.S577F 1.000 NULL pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP9 HGNC ENSG00000010017 61 0 0 36 11 23.4043 IFNGR1 0 genome.wustl.edu 37 6 137540418 137540418 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 137540418 137540418 C T SNP IFNGR1 ENST00000367739 human ensembl 74_37 -1 known missense c.47 p.R16K 0.006 NULL pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu - no_errors IFNGR1 HGNC ENSG00000027697 25 0 0 13 11 45.8333 HIVEP2 0 genome.wustl.edu 37 6 143093660 143093660 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 143093660 143093660 C A SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.2216 p.R739M 0.903 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 67 0 0 43 17 28.3333 SASH1 0 genome.wustl.edu 37 6 148761499 148761499 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 148761499 148761499 G A SNP SASH1 ENST00000367467 human ensembl 74_37 +1 known silent c.342 p.S114 0.002 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 105 0 0 54 29 34.9398 KATNA1 0 genome.wustl.edu 37 6 149916287 149916287 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 149916287 149916287 T C SNP KATNA1 ENST00000335647 human ensembl 74_37 -1 known missense c.1361 p.H454R 1.000 pfam_Vps4_C,superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNA1 HGNC ENSG00000186625 70 0 0 46 21 31.3433 SYNE1 0 genome.wustl.edu 37 6 152621778 152621778 + Nonsense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 152621778 152621778 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known nonsense c.17680 p.Q5894* 1.000 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 36 0 0 29 14 32.5581 SYNE1 0 genome.wustl.edu 37 6 152640107 152640107 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 152640107 152640107 C A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.16280 p.S5427I 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom 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 44 0 0 28 8 22.2222 JARID2 0 genome.wustl.edu 37 6 15520474 15520474 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 15520474 15520474 T C SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.3733 p.S1245P 0.986 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 88 0 0 56 15 21.1268 ARID1B 0 genome.wustl.edu 37 6 157528046 157528046 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 157528046 157528046 G T SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known missense c.5891 p.R1964M 0.623 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 137 1 0.724638 134 9 6.29371 T 0 genome.wustl.edu 37 6 166580164 166580164 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 166580164 166580164 C T SNP T ENST00000296946 human ensembl 74_37 -1 known silent c.387 p.S129 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_Brachyury,prints_TF_T-box,pfscan_TF_T-box - no_errors T HGNC ENSG00000164458 117 0 0 44 27 38.0282 TBP 0 genome.wustl.edu 37 6 170871064 170871064 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 170871064 170871064 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.240 p.Q80 1.000 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 34 0 0 38 7 15.5556 TBP 0 genome.wustl.edu 37 6 170871070 170871070 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 170871070 170871070 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.246 p.Q82 1.000 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 37 0 0 29 10 25.641 HIST1H1E 0 genome.wustl.edu 37 6 26156941 26156941 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 26156941 26156941 A G SNP HIST1H1E ENST00000304218 human ensembl 74_37 +1 known missense c.323 p.N108S 1.000 pfam_Histone_H1/H5_H15,prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1E HGNC ENSG00000168298 66 0 0 50 17 25.3731 ZSCAN16 0 genome.wustl.edu 37 6 28093420 28093420 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 28093420 28093420 C T SNP ZSCAN16 ENST00000340487 human ensembl 74_37 +1 known missense c.199 p.R67C 0.056 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN16 HGNC ENSG00000196812 274 0 0 160 70 30.4348 SCAND3 0 genome.wustl.edu 37 6 28543300 28543300 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 28543300 28543300 C T SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known silent c.1182 p.L394 1.000 pfam_Integrase_cat-core,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 96 0 0 63 26 29.2135 OR10C1 0 genome.wustl.edu 37 6 29408447 29408447 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 29408447 29408447 C T SNP OR10C1 ENST00000444197 human ensembl 74_37 +1 known missense c.655 p.R219C 0.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR10C1 HGNC ENSG00000206474 223 0 0 122 66 35.1064 C6orf47 0 genome.wustl.edu 37 6 31627249 31627249 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 31627249 31627249 C T SNP C6orf47 ENST00000375911 human ensembl 74_37 -1 known missense c.476 p.R159Q 0.804 NULL NULL - no_errors C6orf47 HGNC ENSG00000204439 113 0 0 64 29 31.1828 TNXB 0 genome.wustl.edu 37 6 32029205 32029205 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 32029205 32029205 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.7461 p.R2487 0.421 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 163 1 0.609756 94 52 35.6164 BRD2 0 genome.wustl.edu 37 6 32947844 32947844 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 32947844 32947844 C A SNP BRD2 ENST00000395289 human ensembl 74_37 +1 known missense c.2186 p.S729Y 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC ENSG00000204256 68 0 0 40 22 35.4839 B3GALT4 0 genome.wustl.edu 37 6 33245676 33245676 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 33245676 33245676 G T SNP B3GALT4 ENST00000451237 human ensembl 74_37 +1 known missense c.480 p.W160C 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT4 HGNC ENSG00000235863 153 0 0 78 28 26.4151 ITPR3 0 genome.wustl.edu 37 6 33608274 33608274 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 33608274 33608274 C T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.103 p.R35C 1.000 pfam_Ins145_P3_rcpt pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 253 0 0 117 61 34.2697 LEMD2 0 genome.wustl.edu 37 6 33740534 33740534 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 33740534 33740534 C A SNP LEMD2 ENST00000293760 human ensembl 74_37 -1 known missense c.1383 p.W461C 1.000 pfam_Inner-Nucl-membr_MAN1 pfam_Inner-Nucl-membr_MAN1,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom - no_errors LEMD2 HGNC ENSG00000161904 42 0 0 21 13 38.2353 TCP11 0 genome.wustl.edu 37 6 35088313 35088313 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 35088313 35088313 G A SNP TCP11 ENST00000311875 human ensembl 74_37 -1 known missense c.865 p.P289S 0.012 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11 HGNC ENSG00000124678 107 0 0 67 36 34.9515 DNAH8 0 genome.wustl.edu 37 6 38840716 38840716 + Silent SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 38840716 38840716 G T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.6621 p.V2207 0.354 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 52 0 0 34 18 34.6154 DNAH8 0 genome.wustl.edu 37 6 38942265 38942265 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 38942265 38942265 C T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.12143 p.P4048L 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 104 0 0 49 24 32.8767 LRFN2 0 genome.wustl.edu 37 6 40359938 40359938 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 40359938 40359938 C T SNP LRFN2 ENST00000338305 human ensembl 74_37 -1 known missense c.2114 p.R705Q 0.874 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,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 LRFN2 HGNC ENSG00000156564 12 0 0 12 10 45.4545 TBCC 0 genome.wustl.edu 37 6 42712855 42712855 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 42712855 42712855 G A SNP TBCC ENST00000244625 human ensembl 74_37 -1 known silent c.957 p.D319 1.000 pfam_Tubulin-bd_cofactor_C_dom pfam_Tubulin-bd_cofactor_C_dom,smart_CARP_motif - no_errors TBCC HGNC ENSG00000124659 79 0 0 39 17 30.3571 GLTSCR1L 0 genome.wustl.edu 37 6 42796578 42796578 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 42796578 42796578 G A SNP GLTSCR1L ENST00000314073 human ensembl 74_37 +1 known silent c.507 p.T169 0.998 NULL NULL - no_errors GLTSCR1L HGNC ENSG00000112624 183 0 0 111 48 30.1887 CUL7 0 genome.wustl.edu 37 6 43020085 43020085 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 43020085 43020085 C T SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known missense c.598 p.A200T 1.000 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 58 0 0 41 14 25.4545 CUL9 0 genome.wustl.edu 37 6 43192089 43192089 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 43192089 43192089 A G SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.7460 p.N2487S 0.998 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 47 0 0 30 16 34.7826 HMGCLL1 0 genome.wustl.edu 37 6 55443799 55443799 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 55443799 55443799 G A SNP HMGCLL1 ENST00000398661 human ensembl 74_37 -1 known missense c.55 p.R19W 1.000 NULL pfam_PYR_CT,pfscan_PYR_CT - no_errors HMGCLL1 HGNC ENSG00000146151 35 0 0 15 7 31.8182 PHF3 0 genome.wustl.edu 37 6 64410356 64410356 + Silent SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 64410356 64410356 T C SNP PHF3 ENST00000262043 human ensembl 74_37 +1 known silent c.3099 p.H1033 0.989 pfam_TFIIS_cen_dom pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 51 0 0 30 15 33.3333 DSP 0 genome.wustl.edu 37 6 7569500 7569500 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 7569500 7569500 G A SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.1501 p.V501I 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 128 0 0 70 38 35.1852 DSP 0 genome.wustl.edu 37 6 7580631 7580631 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 7580631 7580631 G T SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.4208 p.R1403M 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 101 0 0 54 35 39.3258 SNRNP48 0 genome.wustl.edu 37 6 7595261 7595261 + Silent SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 7595261 7595261 T C SNP SNRNP48 ENST00000342415 human ensembl 74_37 +1 known silent c.333 p.N111 1.000 NULL pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors SNRNP48 HGNC ENSG00000168566 75 0 0 20 20 50 RNGTT 0 genome.wustl.edu 37 6 89616132 89616132 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 89616132 89616132 C T SNP RNGTT ENST00000369485 human ensembl 74_37 -1 known missense c.395 p.R132H 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-sp_Pase pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-sp_Pase - no_errors RNGTT HGNC ENSG00000111880 40 0 0 26 7 21.2121 PNRC1 0 genome.wustl.edu 37 6 89793839 89793839 + Missense_Mutation SNP G G C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 89793839 89793839 G C SNP PNRC1 ENST00000336032 human ensembl 74_37 +1 known missense c.908 p.S303T 0.045 NULL NULL - no_errors PNRC1 HGNC ENSG00000146278 104 0 0 50 31 38.2716 MDN1 0 genome.wustl.edu 37 6 90461182 90461182 + Missense_Mutation SNP G G C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 90461182 90461182 G C SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.3195 p.N1065K 1.000 superfamily_P-loop_NTPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 59 0 0 29 19 39.5833 BACH2 0 genome.wustl.edu 37 6 90647937 90647937 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 90647937 90647937 G A SNP BACH2 ENST00000257749 human ensembl 74_37 -1 known missense c.1969 p.R657C 1.000 pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 94 0 0 54 33 37.931 TSC22D4 0 genome.wustl.edu 37 7 100064709 100064709 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 100064709 100064709 C T SNP TSC22D4 ENST00000300181 human ensembl 74_37 -1 known missense c.1061 p.R354Q 1.000 pfam_TSC-22_Dip_Bun pfam_TSC-22_Dip_Bun - no_errors TSC22D4 HGNC ENSG00000166925 67 0 0 40 16 28.5714 PCOLCE 0 genome.wustl.edu 37 7 100201580 100201580 + Splice_Site SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 100201580 100201580 A G SNP PCOLCE ENST00000223061 human ensembl 74_37 +1 known splice_site c.205-2 e3-2 1.000 - - - no_errors PCOLCE HGNC ENSG00000106333 82 0 0 57 38 40 ZAN 0 genome.wustl.edu 37 7 100369603 100369603 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 100369603 100369603 G T SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.5385 p.Q1795H 0.129 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 30 0 0 36 9 20 ACHE 0 genome.wustl.edu 37 7 100489954 100489954 + Splice_Site SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 100489954 100489954 C T SNP ACHE ENST00000302913 human ensembl 74_37 -1 known splice_site c.1553+1 e2+1 1.000 - - - no_errors ACHE HGNC ENSG00000087085 66 0 0 51 13 20.3125 PLOD3 0 genome.wustl.edu 37 7 100853686 100853686 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 100853686 100853686 G A SNP PLOD3 ENST00000223127 human ensembl 74_37 -1 known missense c.1540 p.R514W 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 49 0 0 23 21 47.7273 LHFPL3 0 genome.wustl.edu 37 7 103969672 103969672 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 103969672 103969672 G A SNP LHFPL3 ENST00000535008 human ensembl 74_37 +1 known missense c.445 p.G149S 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL3 HGNC ENSG00000187416 89 0 0 71 23 24.4681 PHF14 0 genome.wustl.edu 37 7 11091407 11091407 + Silent SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 11091407 11091407 G T SNP PHF14 ENST00000403050 human ensembl 74_37 +1 known silent c.2481 p.T827 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF14 HGNC ENSG00000106443 37 0 0 26 3 10.3448 C7orf60 0 genome.wustl.edu 37 7 112462111 112462111 + Missense_Mutation SNP A A T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 112462111 112462111 A T SNP C7orf60 ENST00000297145 human ensembl 74_37 -1 known missense c.906 p.F302L 1.000 pfam_DUF3321 pfam_DUF3321 - no_errors C7orf60 HGNC ENSG00000164603 88 0 0 51 52 50.4854 MET 0 genome.wustl.edu 37 7 116381017 116381017 + Nonsense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 116381017 116381017 C T SNP MET ENST00000318493 human ensembl 74_37 +1 known nonsense c.1639 p.R547* 0.039 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 136 1 0.729927 82 75 47.7707 TSPAN12 0 genome.wustl.edu 37 7 120428948 120428948 + Missense_Mutation SNP A A C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 120428948 120428948 A C SNP TSPAN12 ENST00000222747 human ensembl 74_37 -1 known missense c.616 p.C206G 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN12 HGNC ENSG00000106025 65 0 0 27 30 52.6316 TSPAN12 0 genome.wustl.edu 37 7 120455798 120455798 + Silent SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 120455798 120455798 A G SNP TSPAN12 ENST00000222747 human ensembl 74_37 -1 known silent c.345 p.Y115 0.997 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN12 HGNC ENSG00000106025 41 0 0 21 4 16 IQUB 0 genome.wustl.edu 37 7 123119935 123119935 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 123119935 123119935 T C SNP IQUB ENST00000324698 human ensembl 74_37 -1 known missense c.1324 p.T442A 1.000 NULL pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors IQUB HGNC ENSG00000164675 63 0 0 55 14 20.2899 FLNC 0 genome.wustl.edu 37 7 128470736 128470736 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 128470736 128470736 C T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known silent c.45 p.G15 0.948 NULL pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 46 0 0 33 11 25 FLNC 0 genome.wustl.edu 37 7 128493858 128493858 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 128493858 128493858 G A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.6451 p.G2151S 1.000 NULL pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 52 0 0 55 10 15.3846 MGAM 0 genome.wustl.edu 37 7 141750592 141750592 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 141750592 141750592 C A SNP MGAM ENST00000549489 human ensembl 74_37 +1 known missense c.2733 p.S911R 0.001 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 78 0 0 39 24 38.0952 OR2A5 0 genome.wustl.edu 37 7 143748314 143748314 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 143748314 143748314 C A SNP OR2A5 ENST00000408906 human ensembl 74_37 +1 known missense c.820 p.L274I 0.577 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 OR2A5 HGNC ENSG00000221836 137 0 0 104 41 28.2759 DGKB 0 genome.wustl.edu 37 7 14775710 14775710 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 14775710 14775710 T C SNP DGKB ENST00000258767 human ensembl 74_37 -1 known missense c.278 p.H93R 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 22 0 0 13 4 23.5294 ZNF467 0 genome.wustl.edu 37 7 149461869 149461869 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 149461869 149461869 G A SNP ZNF467 ENST00000302017 human ensembl 74_37 -1 known silent c.1722 p.D574 0.131 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ENSG00000181444 22 0 0 19 25 56.8182 ZNF862 0 genome.wustl.edu 37 7 149558562 149558562 + Silent SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 149558562 149558562 G T SNP ZNF862 ENST00000223210 human ensembl 74_37 +1 known silent c.2313 p.A771 0.012 superfamily_RNaseH-like_dom pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 34 0 0 21 30 58.8235 ZNF775 0 genome.wustl.edu 37 7 150094403 150094403 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 150094403 150094403 G A SNP ZNF775 ENST00000329630 human ensembl 74_37 +1 known silent c.834 p.P278 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF775 HGNC ENSG00000196456 21 0 0 20 20 50 ATG9B 0 genome.wustl.edu 37 7 150720577 150720577 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 150720577 150720577 C T SNP ATG9B ENST00000377974 human ensembl 74_37 -1 known missense c.614 p.R205Q 1.000 NULL pfam_Autophagy-rel_prot_9 - no_errors ATG9B HGNC ENSG00000181652 23 0 0 3 19 86.3636 KMT2C 0 genome.wustl.edu 37 7 151879153 151879153 + Nonsense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 151879153 151879153 G T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known nonsense c.5792 p.S1931* 0.106 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 137 0 0 65 88 57.5163 FAM20C 0 genome.wustl.edu 37 7 195728 195728 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 195728 195728 C T SNP FAM20C ENST00000313766 human ensembl 74_37 +1 known silent c.780 p.S260 0.938 NULL pfam_DUF1193 - no_errors FAM20C HGNC ENSG00000177706 89 0 0 18 46 71.875 FAM126A 0 genome.wustl.edu 37 7 22985387 22985387 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 22985387 22985387 G T SNP FAM126A ENST00000432176 human ensembl 74_37 -1 known missense c.1387 p.P463T 0.996 NULL pfam_Hyccin - no_errors FAM126A HGNC ENSG00000122591 83 0 0 99 37 27.2059 C7orf31 0 genome.wustl.edu 37 7 25194757 25194757 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 25194757 25194757 G A SNP C7orf31 ENST00000283905 human ensembl 74_37 -1 known silent c.468 p.R156 0.000 NULL NULL - no_errors C7orf31 HGNC ENSG00000153790 81 0 0 79 19 19.3878 GHRHR 0 genome.wustl.edu 37 7 31014105 31014105 + Splice_Site SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 31014105 31014105 G A SNP GHRHR ENST00000326139 human ensembl 74_37 +1 known splice_site c.812+1 e8+1 0.997 - - - no_errors GHRHR HGNC ENSG00000106128 75 0 0 42 51 54.8387 NT5C3A 0 genome.wustl.edu 37 7 33055402 33055402 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 33055402 33055402 G A SNP NT5C3A ENST00000242210 human ensembl 74_37 -1 known silent c.789 p.F263 1.000 pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu - no_errors NT5C3A HGNC ENSG00000122643 40 0 0 54 19 26.0274 BBS9 0 genome.wustl.edu 37 7 33545232 33545232 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 33545232 33545232 C T SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known missense c.2273 p.P758L 0.998 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 51 0 0 39 31 44.2857 EEPD1 0 genome.wustl.edu 37 7 36194050 36194050 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 36194050 36194050 G A SNP EEPD1 ENST00000242108 human ensembl 74_37 +1 known silent c.117 p.R39 1.000 superfamily_RuvA_2-like,tigrfam_Competence_ComEA_HhH pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH - no_errors EEPD1 HGNC ENSG00000122547 162 0 0 143 41 22.2826 MIR1200 0 genome.wustl.edu 37 7 36959035 36959035 + RNA SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 36959035 36959035 G T SNP MIR1200 ENST00000408398 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR1200 HGNC ENSG00000221325 27 0 0 32 8 20 AMPH 0 genome.wustl.edu 37 7 38433753 38433753 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 38433753 38433753 G A SNP AMPH ENST00000356264 human ensembl 74_37 -1 known missense c.1460 p.A487V 0.002 NULL pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 130 0 0 126 15 10.6383 GLI3 0 genome.wustl.edu 37 7 42116409 42116409 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 42116409 42116409 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.415 p.A139T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 74 0 0 50 9 15.2542 SDK1 0 genome.wustl.edu 37 7 4273010 4273010 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 4273010 4273010 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.5951 p.A1984V 0.001 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 96 0 0 25 47 65.2778 NUDCD3 0 genome.wustl.edu 37 7 44425629 44425629 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 44425629 44425629 G A SNP NUDCD3 ENST00000355451 human ensembl 74_37 -1 known missense c.1067 p.P356L 1.000 NULL pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors NUDCD3 HGNC ENSG00000015676 71 0 0 52 24 31.5789 MYO1G 0 genome.wustl.edu 37 7 45015133 45015133 + Missense_Mutation SNP A A C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 45015133 45015133 A C SNP MYO1G ENST00000258787 human ensembl 74_37 -1 known missense c.514 p.F172V 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO1G HGNC ENSG00000136286 45 0 0 22 31 58.4906 TNS3 0 genome.wustl.edu 37 7 47344520 47344520 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 47344520 47344520 C T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.2732 p.R911Q 0.995 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 41 0 0 33 9 21.4286 PKD1L1 0 genome.wustl.edu 37 7 47944770 47944770 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 47944770 47944770 G A SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.1675 p.L559F 0.213 superfamily_PKD_dom,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 85 0 0 31 49 61.25 ABCA13 0 genome.wustl.edu 37 7 48313025 48313025 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 48313025 48313025 G T SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.3762 p.E1254D 0.055 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 16 0 0 26 8 23.5294 ABCA13 0 genome.wustl.edu 37 7 48335320 48335320 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 48335320 48335320 G A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.8979 p.S2993 0.001 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 112 0 0 77 70 47.619 RBAK 0 genome.wustl.edu 37 7 5105012 5105012 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 5105012 5105012 A G SNP RBAK ENST00000353796 human ensembl 74_37 +1 known missense c.1925 p.Y642C 0.774 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors RBAK HGNC ENSG00000146587 98 0 0 106 6 5.35714 NSUN5 0 genome.wustl.edu 37 7 72717831 72717831 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 72717831 72717831 G A SNP NSUN5 ENST00000438747 human ensembl 74_37 -1 known silent c.1137 p.G379 0.000 pfam_Fmu/NOL1/Nop2p pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN5 HGNC ENSG00000130305 29 0 0 20 19 48.7179 HIP1 0 genome.wustl.edu 37 7 75189089 75189089 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 75189089 75189089 C A SNP HIP1 ENST00000336926 human ensembl 74_37 -1 known missense c.1322 p.R441M 1.000 superfamily_Prefoldin pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1 HGNC ENSG00000127946 61 0 0 44 13 22.807 SEMA3A 0 genome.wustl.edu 37 7 83823851 83823851 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 83823851 83823851 C T SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known missense c.52 p.A18T 0.821 NULL pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3A HGNC ENSG00000075213 192 0 0 187 24 11.3744 CLDN12 0 genome.wustl.edu 37 7 90042232 90042232 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 90042232 90042232 T C SNP CLDN12 ENST00000287916 human ensembl 74_37 +1 known missense c.242 p.L81P 1.000 prints_Claudin12 prints_Claudin12 - no_errors CLDN12 HGNC ENSG00000157224 199 0 0 174 53 23.348 CASD1 0 genome.wustl.edu 37 7 94163028 94163028 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 94163028 94163028 T C SNP CASD1 ENST00000297273 human ensembl 74_37 +1 known missense c.542 p.L181P 0.954 NULL pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 76 0 0 46 33 41.7722 LMTK2 0 genome.wustl.edu 37 7 97821424 97821424 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 97821424 97821424 C T SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known silent c.1647 p.S549 0.993 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 106 0 0 81 29 26.3636 BAIAP2L1 0 genome.wustl.edu 37 7 97984432 97984432 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 97984432 97984432 G A SNP BAIAP2L1 ENST00000005260 human ensembl 74_37 -1 known silent c.136 p.L46 0.998 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L1 HGNC ENSG00000006453 30 0 0 28 19 40.4255 CYP3A7 0 genome.wustl.edu 37 7 99308406 99308406 + Silent SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 99308406 99308406 A G SNP CYP3A7 ENST00000336374 human ensembl 74_37 -1 known silent c.975 p.P325 0.977 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A7 HGNC ENSG00000160870 59 0 0 28 41 59.4203 TAF6 0 genome.wustl.edu 37 7 99706053 99706053 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 99706053 99706053 C T SNP TAF6 ENST00000344095 human ensembl 74_37 -1 known silent c.1395 p.K465 1.000 NULL pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd - no_errors TAF6 HGNC ENSG00000106290 134 0 0 78 77 49.6774 VPS13B 0 genome.wustl.edu 37 8 100654601 100654601 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 100654601 100654601 C A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.5858 p.P1953H 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 154 0 0 127 48 27.4286 DCAF13 0 genome.wustl.edu 37 8 104427341 104427341 + Silent SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 104427341 104427341 G T SNP DCAF13 ENST00000297579 human ensembl 74_37 +1 known silent c.123 p.G41 0.000 NULL pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 84 0 0 44 31 41.3333 RIMS2 0 genome.wustl.edu 37 8 104709417 104709417 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 104709417 104709417 A G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.280 p.I94V 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 90 0 0 75 29 27.8846 RIMS2 0 genome.wustl.edu 37 8 105026793 105026793 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 105026793 105026793 G A SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.3284 p.R1095Q 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 66 0 0 63 23 26.7442 KCNV1 0 genome.wustl.edu 37 8 110980792 110980792 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 110980792 110980792 T C SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known missense c.1028 p.Y343C 1.000 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_Kv4 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 73 0 0 52 20 27.7778 CSMD3 0 genome.wustl.edu 37 8 113314033 113314033 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 113314033 113314033 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.8429 p.T2810I 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 CSMD3 HGNC ENSG00000164796 79 0 0 71 13 15.4762 CSMD3 0 genome.wustl.edu 37 8 113585761 113585761 + Silent SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 113585761 113585761 C A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.4011 p.G1337 0.895 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 138 0 0 95 33 25.7812 TRPS1 0 genome.wustl.edu 37 8 116430571 116430571 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 116430571 116430571 T C SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.2810 p.Q937R 1.000 pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 167 0 0 101 39 27.8571 COL14A1 0 genome.wustl.edu 37 8 121238900 121238900 + Silent SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 121238900 121238900 T C SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known silent c.1899 p.D633 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 48 0 0 28 12 30 TBC1D31 0 genome.wustl.edu 37 8 124121565 124121565 + Silent SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 124121565 124121565 A G SNP TBC1D31 ENST00000287380 human ensembl 74_37 +1 known silent c.1218 p.L406 0.854 NULL pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors TBC1D31 HGNC ENSG00000156787 67 0 0 45 20 30.7692 ATAD2 0 genome.wustl.edu 37 8 124359583 124359583 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 124359583 124359583 C T SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known missense c.1961 p.R654H 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 127 0 0 94 28 22.9508 ATAD2 0 genome.wustl.edu 37 8 124382200 124382200 + Missense_Mutation SNP A A T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 124382200 124382200 A T SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known missense c.792 p.D264E 0.676 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 39 0 0 37 13 26 TRMT12 0 genome.wustl.edu 37 8 125464363 125464363 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 125464363 125464363 G A SNP TRMT12 ENST00000328599 human ensembl 74_37 +1 known missense c.1195 p.A399T 0.989 NULL pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TRMT12 HGNC ENSG00000183665 50 0 0 45 11 19.6429 RNF139 0 genome.wustl.edu 37 8 125499032 125499032 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 125499032 125499032 C A SNP RNF139 ENST00000303545 human ensembl 74_37 +1 known missense c.1142 p.S381Y 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF139 HGNC ENSG00000170881 384 0 0 312 94 23.1527 TG 0 genome.wustl.edu 37 8 133920513 133920513 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 133920513 133920513 C T SNP TG ENST00000220616 human ensembl 74_37 +1 known silent c.3930 p.Y1310 0.364 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 80 0 0 74 17 18.6813 EEF1D 0 genome.wustl.edu 37 8 144671875 144671875 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 144671875 144671875 C T SNP EEF1D ENST00000423316 human ensembl 74_37 -1 known missense c.377 p.R126H 1.000 NULL pfam_Transl_elong_fac_EF1B_bsu/dsu,pfam_EF-1_beta_acid_region_euk,superfamily_Transl_elong_fac_EF1B_bsu/dsu,smart_Transl_elong_fac_EF1B_bsu/dsu - no_errors EEF1D HGNC ENSG00000104529 45 0 0 39 6 13.3333 EPPK1 0 genome.wustl.edu 37 8 144940592 144940592 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 144940592 144940592 C T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.6830 p.R2277H 0.897 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 115 0 0 115 7 5.7377 PLEC 0 genome.wustl.edu 37 8 144991177 144991177 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 144991177 144991177 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.13223 p.S4408L 0.595 smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 92 0 0 67 25 27.1739 PLEC 0 genome.wustl.edu 37 8 144995188 144995188 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 144995188 144995188 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.9212 p.T3071M 0.990 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 125 0 0 104 23 18.1102 PLEC 0 genome.wustl.edu 37 8 144995398 144995398 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 144995398 144995398 T C SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.9002 p.Y3001C 0.995 smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 150 0 0 123 39 24.0741 GPAA1 0 genome.wustl.edu 37 8 145139352 145139352 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 145139352 145139352 C T SNP GPAA1 ENST00000355091 human ensembl 74_37 +1 known silent c.850 p.L284 0.701 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 - no_errors GPAA1 HGNC ENSG00000197858 89 0 0 85 26 23.4234 RECQL4 0 genome.wustl.edu 37 8 145738257 145738257 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 145738257 145738257 C T SNP RECQL4 ENST00000428558 human ensembl 74_37 -1 known missense c.2728 p.V910I 0.993 NULL pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DNA_rep_checkpnt_protein,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 RECQL4 HGNC ENSG00000160957 12 0 0 13 3 18.75 ARHGEF10 0 genome.wustl.edu 37 8 1851600 1851600 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 1851600 1851600 G A SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known missense c.1879 p.E627K 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 70 0 0 67 12 15.1899 LGI3 0 genome.wustl.edu 37 8 22005848 22005848 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 22005848 22005848 T C SNP LGI3 ENST00000306317 human ensembl 74_37 -1 known missense c.1472 p.Q491R 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI3 HGNC ENSG00000168481 55 0 0 47 13 21.6667 LOXL2 0 genome.wustl.edu 37 8 23198656 23198656 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 23198656 23198656 G A SNP LOXL2 ENST00000389131 human ensembl 74_37 -1 known missense c.592 p.R198C 1.000 superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL2 HGNC ENSG00000134013 135 0 0 124 29 18.9542 PTK2B 0 genome.wustl.edu 37 8 27278190 27278190 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 27278190 27278190 C T SNP PTK2B ENST00000346049 human ensembl 74_37 +1 known missense c.400 p.R134C 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 137 0 0 97 31 24.2188 PTK2B 0 genome.wustl.edu 37 8 27288462 27288462 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 27288462 27288462 G A SNP PTK2B ENST00000346049 human ensembl 74_37 +1 known missense c.739 p.V247I 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 116 0 0 120 40 25 EXTL3 0 genome.wustl.edu 37 8 28573610 28573610 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 28573610 28573610 G A SNP EXTL3 ENST00000220562 human ensembl 74_37 +1 known missense c.34 p.A12T 0.692 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC ENSG00000012232 91 0 0 63 29 31.5217 EXTL3 0 genome.wustl.edu 37 8 28608343 28608343 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 28608343 28608343 G A SNP EXTL3 ENST00000220562 human ensembl 74_37 +1 known missense c.2720 p.R907H 1.000 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC ENSG00000012232 133 0 0 111 40 26.4901 CSMD1 0 genome.wustl.edu 37 8 3224595 3224595 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 3224595 3224595 T C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.3077 p.D1026G 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 35 0 0 20 7 25.9259 RAB11FIP1 0 genome.wustl.edu 37 8 37729956 37729956 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 37729956 37729956 C T SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known missense c.2364 p.M788I 0.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 82 0 0 94 34 26.5625 KAT6A 0 genome.wustl.edu 37 8 41794925 41794925 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 41794925 41794925 G A SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known silent c.3201 p.I1067 0.993 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 133 1 0.746269 91 26 22.2222 KAT6A 0 genome.wustl.edu 37 8 41906483 41906483 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 41906483 41906483 C T SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.13 p.A5T 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 192 0 0 169 53 23.8739 RNF170 0 genome.wustl.edu 37 8 42742939 42742939 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 42742939 42742939 G A SNP RNF170 ENST00000527424 human ensembl 74_37 -1 known silent c.69 p.S23 1.000 NULL pfam_DUF1232,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF170 HGNC ENSG00000120925 62 0 0 68 15 18.0723 POTEA 0 genome.wustl.edu 37 8 43155752 43155752 + RNA SNP T T G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 43155752 43155752 T G SNP POTEA ENST00000522175 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors POTEA HGNC ENSG00000188877 65 0 0 58 15 20.5479 PXDNL 0 genome.wustl.edu 37 8 52321056 52321056 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 52321056 52321056 C T SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.3128 p.G1043D 0.791 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 26 0 0 22 7 24.1379 PXDNL 0 genome.wustl.edu 37 8 52321771 52321771 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 52321771 52321771 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2413 p.H805Y 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 12 0 0 11 6 35.2941 RB1CC1 0 genome.wustl.edu 37 8 53596230 53596230 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 53596230 53596230 C T SNP RB1CC1 ENST00000025008 human ensembl 74_37 -1 known missense c.248 p.R83H 1.000 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 38 0 0 57 16 21.9178 NPBWR1 0 genome.wustl.edu 37 8 53852972 53852972 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 53852972 53852972 G A SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known missense c.505 p.V169I 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 18 0 0 16 4 20 OPRK1 0 genome.wustl.edu 37 8 54163406 54163406 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 54163406 54163406 C T SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known silent c.192 p.A64 0.002 prints_GPCR_Rhodpsn,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 41 0 0 51 16 23.8806 RGS20 0 genome.wustl.edu 37 8 54852152 54852152 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 54852152 54852152 G A SNP RGS20 ENST00000297313 human ensembl 74_37 +1 known missense c.527 p.R176Q 1.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS20 HGNC ENSG00000147509 20 0 0 7 4 36.3636 XKR4 0 genome.wustl.edu 37 8 56015229 56015229 + Missense_Mutation SNP T T G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 56015229 56015229 T G SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known missense c.181 p.C61G 1.000 NULL pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 9 0 0 8 4 33.3333 TMEM68 0 genome.wustl.edu 37 8 56663664 56663664 + Silent SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 56663664 56663664 T C SNP TMEM68 ENST00000434581 human ensembl 74_37 -1 known silent c.546 p.K182 1.000 pfam_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase - no_errors TMEM68 HGNC ENSG00000167904 110 0 0 86 34 28.3333 BHLHE22 0 genome.wustl.edu 37 8 65493419 65493419 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 65493419 65493419 C T SNP BHLHE22 ENST00000321870 human ensembl 74_37 +1 known silent c.72 p.S24 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHE22 HGNC ENSG00000180828 8 0 0 8 4 33.3333 DNAJC5B 0 genome.wustl.edu 37 8 66989062 66989062 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 66989062 66989062 A G SNP DNAJC5B ENST00000276570 human ensembl 74_37 +1 known missense c.287 p.D96G 1.000 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC5B HGNC ENSG00000147570 114 0 0 109 31 22.1429 SULF1 0 genome.wustl.edu 37 8 70514037 70514037 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 70514037 70514037 G A SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.1034 p.R345H 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 211 0 0 182 57 23.8494 TRPA1 0 genome.wustl.edu 37 8 72967786 72967786 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 72967786 72967786 T C SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.1414 p.T472A 0.375 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 87 0 0 70 15 17.6471 ESRP1 0 genome.wustl.edu 37 8 95690446 95690446 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 95690446 95690446 C T SNP ESRP1 ENST00000433389 human ensembl 74_37 +1 known missense c.1667 p.S556F 1.000 NULL superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 51 0 0 61 18 22.7848 LINC00599 0 genome.wustl.edu 37 8 9760969 9760969 + RNA SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 9760969 9760969 G A SNP LINC00599 ENST00000385275 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors LINC00599 HGNC ENSG00000253230 25 0 0 29 4 12.1212 TBC1D2 0 genome.wustl.edu 37 9 100961816 100961816 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 100961816 100961816 C T SNP TBC1D2 ENST00000375066 human ensembl 74_37 -1 known silent c.2601 p.L867 0.996 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2 HGNC ENSG00000095383 280 0 0 163 78 32.3651 ANKS6 0 genome.wustl.edu 37 9 101518711 101518711 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 101518711 101518711 T C SNP ANKS6 ENST00000375018 human ensembl 74_37 -1 known missense c.2320 p.T774A 1.000 superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC ENSG00000165138 110 0 0 55 19 25.6757 LPPR1 0 genome.wustl.edu 37 9 104071658 104071658 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 104071658 104071658 G T SNP LPPR1 ENST00000374874 human ensembl 74_37 +1 known missense c.551 p.G184V 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR1 Uniprot_gn ENSG00000148123 79 0 0 56 29 34.1176 ALDOB 0 genome.wustl.edu 37 9 104193086 104193086 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 104193086 104193086 C A SNP ALDOB ENST00000374855 human ensembl 74_37 -1 known missense c.84 p.K28N 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOB HGNC ENSG00000136872 77 0 0 28 19 40.4255 GRIN3A 0 genome.wustl.edu 37 9 104432344 104432344 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 104432344 104432344 T C SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known missense c.2350 p.K784E 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 77 0 0 51 24 32 FOXD4 0 genome.wustl.edu 37 9 117822 117822 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 117822 117822 G A SNP FOXD4 ENST00000382500 human ensembl 74_37 -1 known missense c.298 p.R100W 0.176 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4 HGNC ENSG00000170122 208 0 0 163 30 15.544 PAPPA 0 genome.wustl.edu 37 9 119097332 119097332 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 119097332 119097332 C T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.3590 p.T1197I 1.000 NULL pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 100 0 0 67 28 29.4737 MORN5 0 genome.wustl.edu 37 9 124936889 124936889 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 124936889 124936889 G A SNP MORN5 ENST00000536616 human ensembl 74_37 +1 known missense c.422 p.R141H 0.168 NULL pfam_MORN,smart_MORN - no_errors MORN5 HGNC ENSG00000185681 113 0 0 51 28 35.443 PTGS1 0 genome.wustl.edu 37 9 125152626 125152626 + Splice_Site SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 125152626 125152626 T C SNP PTGS1 ENST00000362012 human ensembl 74_37 +1 known splice_site c.1444+2 e10+2 0.999 - - - no_errors PTGS1 HGNC ENSG00000095303 29 0 0 25 12 32.4324 NR5A1 0 genome.wustl.edu 37 9 127265430 127265430 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 127265430 127265430 C T SNP NR5A1 ENST00000373588 human ensembl 74_37 -1 known missense c.172 p.D58N 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A1 HGNC ENSG00000136931 10 0 0 8 4 33.3333 SCAI 0 genome.wustl.edu 37 9 127828331 127828331 + Silent SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 127828331 127828331 T C SNP SCAI ENST00000373549 human ensembl 74_37 -1 known silent c.105 p.R35 0.929 pirsf_UCP013022 pfam_DUF3550,pirsf_UCP013022 - no_errors SCAI HGNC ENSG00000173611 90 0 0 38 24 38.7097 FAM102A 0 genome.wustl.edu 37 9 130710444 130710444 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 130710444 130710444 C T SNP FAM102A ENST00000373095 human ensembl 74_37 -1 known silent c.522 p.T174 0.954 NULL pfam_NT-C2 - no_errors FAM102A HGNC ENSG00000167106 86 0 0 48 26 35.1351 COQ4 0 genome.wustl.edu 37 9 131095999 131095999 + RNA SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 131095999 131095999 A G SNP COQ4 ENST00000461102 human ensembl 74_37 +1 known rna NULL NULL 0.100 - - - no_errors COQ4 HGNC ENSG00000167113 8 0 0 14 7 33.3333 NUP214 0 genome.wustl.edu 37 9 134103717 134103717 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 134103717 134103717 G A SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known missense c.6076 p.G2026R 1.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 69 0 0 34 11 24.4444 PRRC2B 0 genome.wustl.edu 37 9 134319684 134319684 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 134319684 134319684 G A SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known silent c.582 p.S194 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 31 0 0 10 4 28.5714 GTF3C5 0 genome.wustl.edu 37 9 135929231 135929231 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 135929231 135929231 G A SNP GTF3C5 ENST00000372108 human ensembl 74_37 +1 known missense c.890 p.R297H 1.000 pfam_TF_IIIC_su-5 pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 76 0 0 27 13 32.5 RALGDS 0 genome.wustl.edu 37 9 136031317 136031317 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 136031317 136031317 C T SNP RALGDS ENST00000542690 human ensembl 74_37 -1 known missense c.232 p.V78I 0.033 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC ENSG00000160271 114 0 0 78 31 28.4404 SNAPC4 0 genome.wustl.edu 37 9 139274297 139274297 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 139274297 139274297 C T SNP SNAPC4 ENST00000298532 human ensembl 74_37 -1 known missense c.2519 p.S840N 0.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 37 0 0 22 4 15.3846 SNAPC4 0 genome.wustl.edu 37 9 139277746 139277746 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 139277746 139277746 C T SNP SNAPC4 ENST00000298532 human ensembl 74_37 -1 known silent c.1875 p.T625 0.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 44 0 0 25 12 32.4324 UAP1L1 0 genome.wustl.edu 37 9 139973715 139973715 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 139973715 139973715 A G SNP UAP1L1 ENST00000409858 human ensembl 74_37 +1 known missense c.851 p.E284G 1.000 pfam_UDPGP_trans pfam_UDPGP_trans - no_errors UAP1L1 HGNC ENSG00000197355 56 0 0 36 8 18.1818 NELFB 0 genome.wustl.edu 37 9 140166984 140166984 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 140166984 140166984 C T SNP NELFB ENST00000343053 human ensembl 74_37 +1 known silent c.1513 p.L505 1.000 pfam_COBRA1 pfam_COBRA1 - no_errors NELFB HGNC ENSG00000188986 28 0 0 17 7 29.1667 ARRDC1 0 genome.wustl.edu 37 9 140508883 140508883 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 140508883 140508883 G A SNP ARRDC1 ENST00000371421 human ensembl 74_37 +1 known missense c.751 p.A251T 0.348 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC1 HGNC ENSG00000197070 154 0 0 99 43 30.2817 ADAMTSL1 0 genome.wustl.edu 37 9 18504917 18504917 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 18504917 18504917 G A SNP ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known missense c.154 p.G52R 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 56 0 0 41 19 31.6667 ADAMTSL1 0 genome.wustl.edu 37 9 18777025 18777025 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 18777025 18777025 A G SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel missense c.2798 p.K933R 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 92 0 0 56 31 35.6322 KIAA0020 0 genome.wustl.edu 37 9 2807900 2807900 + Nonsense_Mutation SNP A A T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 2807900 2807900 A T SNP KIAA0020 ENST00000397885 human ensembl 74_37 -1 known nonsense c.1728 p.C576* 0.999 pfam_CPL,superfamily_ARM-type_fold pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 55 0 0 25 11 30.5556 PTENP1 0 genome.wustl.edu 37 9 33675379 33675379 + RNA SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 33675379 33675379 C A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors PTENP1 HGNC ENSG00000237984 21 0 0 15 6 28.5714 PTENP1 0 genome.wustl.edu 37 9 33675400 33675400 + RNA SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 33675400 33675400 G A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 39 0 0 27 5 15.625 KIAA1161 0 genome.wustl.edu 37 9 34372554 34372554 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 34372554 34372554 C T SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known missense c.286 p.A96T 0.998 NULL pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 14 0 0 8 4 33.3333 C9orf24 0 genome.wustl.edu 37 9 34379126 34379126 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 34379126 34379126 A G SNP C9orf24 ENST00000379124 human ensembl 74_37 -1 known missense c.443 p.V148A 0.743 NULL NULL - no_errors C9orf24 HGNC ENSG00000164972 76 0 0 23 14 37.8378 VCP 0 genome.wustl.edu 37 9 35059794 35059794 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 35059794 35059794 C T SNP VCP ENST00000358901 human ensembl 74_37 -1 known missense c.1700 p.R567H 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 - no_errors VCP HGNC ENSG00000165280 84 0 0 57 17 22.973 PIGO 0 genome.wustl.edu 37 9 35091530 35091530 + Missense_Mutation SNP C C G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 35091530 35091530 C G SNP PIGO ENST00000341666 human ensembl 74_37 -1 known missense c.2354 p.G785A 1.000 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 99 0 0 61 25 29.0698 SIT1 0 genome.wustl.edu 37 9 35650182 35650182 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 35650182 35650182 C A SNP SIT1 ENST00000259608 human ensembl 74_37 -1 known missense c.356 p.R119M 0.995 NULL NULL - no_errors SIT1 HGNC ENSG00000137078 65 0 0 33 10 23.2558 NPR2 0 genome.wustl.edu 37 9 35792877 35792877 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 35792877 35792877 G A SNP NPR2 ENST00000342694 human ensembl 74_37 +1 known missense c.472 p.G158R 0.993 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 124 0 0 65 34 34.3434 PGM5 0 genome.wustl.edu 37 9 71002450 71002450 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 71002450 71002450 G T SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.643 p.G215C 1.000 pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 100 0 0 64 35 35.3535 MAMDC2 0 genome.wustl.edu 37 9 72741207 72741207 + Missense_Mutation SNP A A T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 72741207 72741207 A T SNP MAMDC2 ENST00000377182 human ensembl 74_37 +1 known missense c.776 p.N259I 0.981 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors MAMDC2 HGNC ENSG00000165072 47 0 0 31 24 43.6364 PRUNE2 0 genome.wustl.edu 37 9 79322953 79322953 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 79322953 79322953 G A SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known missense c.3160 p.R1054C 0.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 42 0 0 28 18 39.1304 VPS13A 0 genome.wustl.edu 37 9 79824434 79824434 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 79824434 79824434 C T SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.481 p.R161C 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 26 0 0 20 9 31.0345 CEP78 0 genome.wustl.edu 37 9 80858424 80858424 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 80858424 80858424 G A SNP CEP78 ENST00000376597 human ensembl 74_37 +1 known missense c.650 p.R217H 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors CEP78 HGNC ENSG00000148019 72 0 0 29 13 30.9524 ZCCHC6 0 genome.wustl.edu 37 9 88925684 88925684 + Silent SNP T T G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 88925684 88925684 T G SNP ZCCHC6 ENST00000375963 human ensembl 74_37 -1 known silent c.3315 p.P1105 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 66 0 0 32 12 27.2727 S1PR3 0 genome.wustl.edu 37 9 91616486 91616486 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 91616486 91616486 C T SNP S1PR3 ENST00000358157 human ensembl 74_37 +1 known missense c.371 p.A124V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG3_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_EDG1_rcpt,prints_Cnbnoid_rcpt - no_errors S1PR3 HGNC ENSG00000213694 109 0 0 44 24 35.2941 FGD3 0 genome.wustl.edu 37 9 95738814 95738814 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 95738814 95738814 C T SNP FGD3 ENST00000337352 human ensembl 74_37 +1 known silent c.276 p.C92 0.067 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 23 0 0 21 7 25 ZNF169 0 genome.wustl.edu 37 9 97062749 97062749 + Silent SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 97062749 97062749 C A SNP ZNF169 ENST00000395395 human ensembl 74_37 +1 known silent c.909 p.S303 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF169 HGNC ENSG00000175787 102 0 0 79 29 26.8519 PTCH1 0 genome.wustl.edu 37 9 98238403 98238403 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 98238403 98238403 G A SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known silent c.1641 p.S547 0.947 pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 30 0 0 13 12 48 ZMAT1 0 genome.wustl.edu 37 X 101138490 101138490 + Nonsense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 101138490 101138490 C A SNP ZMAT1 ENST00000372782 human ensembl 74_37 -1 known nonsense c.1909 p.G637* 1.000 NULL superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 87 0 0 74 5 6.32911 PIH1D3 0 genome.wustl.edu 37 X 106482225 106482225 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 106482225 106482225 G A SNP PIH1D3 ENST00000336387 human ensembl 74_37 +1 known missense c.503 p.R168H 0.867 pfam_PIH pfam_PIH - no_errors PIH1D3 HGNC ENSG00000080572 75 0 0 44 15 25.4237 FRMPD3 0 genome.wustl.edu 37 X 106843757 106843757 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 106843757 106843757 C A SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known missense c.2587 p.P863T 0.969 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 52 0 0 31 18 36.7347 ACSL4 0 genome.wustl.edu 37 X 108902693 108902693 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 108902693 108902693 A G SNP ACSL4 ENST00000340800 human ensembl 74_37 -1 known missense c.1868 p.L623S 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL4 HGNC ENSG00000068366 124 0 0 68 21 23.5955 KIAA1210 0 genome.wustl.edu 37 X 118222649 118222649 + Missense_Mutation SNP T T G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 118222649 118222649 T G SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known missense c.2544 p.E848D 0.016 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 25 0 0 20 15 42.8571 GLUD2 0 genome.wustl.edu 37 X 120183165 120183165 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 120183165 120183165 A G SNP GLUD2 ENST00000328078 human ensembl 74_37 +1 known missense c.1627 p.I543V 1.000 smart_Glu/Leu/Phe/Val_DH_C pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 137 0 0 90 51 36.1702 IGSF1 0 genome.wustl.edu 37 X 130419306 130419306 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 130419306 130419306 C T SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known missense c.514 p.V172M 0.498 smart_Ig_sub,smart_Ig_sub2 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 185 0 0 116 24 17.1429 ATXN3L 0 genome.wustl.edu 37 X 13337235 13337235 + Silent SNP A A C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 13337235 13337235 A C SNP ATXN3L ENST00000380622 human ensembl 74_37 -1 known silent c.819 p.T273 0.005 prints_Josephin pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,prints_Josephin,pfscan_Josephin,pfscan_Ubiquitin-int_motif - no_errors ATXN3L HGNC ENSG00000123594 337 0 0 212 66 23.741 SLC9A6 0 genome.wustl.edu 37 X 135067850 135067850 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 135067850 135067850 C T SNP SLC9A6 ENST00000370695 human ensembl 74_37 +1 known silent c.189 p.A63 0.031 prints_Na/H_exchanger_6 pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC ENSG00000198689 170 0 0 111 56 33.5329 MAGEC1 0 genome.wustl.edu 37 X 140996328 140996328 + Missense_Mutation SNP A A C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 140996328 140996328 A C SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.3138 p.K1046N 0.031 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 115 0 0 99 43 30.2817 MAGEC1 0 genome.wustl.edu 37 X 140996374 140996374 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 140996374 140996374 T C SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.3184 p.S1062P 0.004 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 189 0 0 103 56 35.2201 SPANXN1 0 genome.wustl.edu 37 X 144329135 144329135 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 144329135 144329135 G T SNP SPANXN1 ENST00000370493 human ensembl 74_37 +1 known missense c.29 p.G10V 0.046 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN1 HGNC ENSG00000203923 219 0 0 117 45 27.7778 MAGEA1 0 genome.wustl.edu 37 X 152482876 152482876 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 152482876 152482876 C A SNP MAGEA1 ENST00000356661 human ensembl 74_37 -1 known missense c.135 p.E45D 0.006 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA1 HGNC ENSG00000198681 190 1 0.52356 111 64 36.5714 TREX2 0 genome.wustl.edu 37 X 152710795 152710795 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 152710795 152710795 G T SNP TREX2 ENST00000334497 human ensembl 74_37 -1 known missense c.223 p.L75I 0.822 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors TREX2 HGNC ENSG00000183479 27 0 0 9 8 47.0588 GPR64 0 genome.wustl.edu 37 X 19028750 19028750 + Silent SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 19028750 19028750 G A SNP GPR64 ENST00000379869 human ensembl 74_37 -1 known silent c.1246 p.L416 0.517 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 214 0 0 118 47 28.4848 MAP3K15 0 genome.wustl.edu 37 X 19391783 19391783 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 19391783 19391783 G T SNP MAP3K15 ENST00000338883 human ensembl 74_37 -1 known missense c.2804 p.P935H 0.908 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K15 HGNC ENSG00000180815 22 0 0 11 7 38.8889 YY2 0 genome.wustl.edu 37 X 21875411 21875411 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 21875411 21875411 C T SNP YY2 ENST00000429584 human ensembl 74_37 +1 known missense c.809 p.A270V 0.919 smart_Znf_C2H2-like,pirsf_TF_Yin_yang smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY2 HGNC ENSG00000230797 290 0 0 202 90 30.8219 PHEX 0 genome.wustl.edu 37 X 22095708 22095708 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 22095708 22095708 A G SNP PHEX ENST00000379374 human ensembl 74_37 +1 known missense c.551 p.K184R 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 291 1 0.342466 162 67 29.2576 ZFX 0 genome.wustl.edu 37 X 24228545 24228545 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 24228545 24228545 C T SNP ZFX ENST00000540034 human ensembl 74_37 +1 known silent c.1587 p.C529 0.991 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ENSG00000005889 116 0 0 71 41 36.6071 PDK3 0 genome.wustl.edu 37 X 24523371 24523371 + Missense_Mutation SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 24523371 24523371 T C SNP PDK3 ENST00000441463 human ensembl 74_37 +1 known missense c.551 p.I184T 0.998 pfam_BCDHK/PDK_N,superfamily_HATPase_ATP-bd pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK3 HGNC ENSG00000067992 102 0 0 37 25 40.3226 GYG2 0 genome.wustl.edu 37 X 2748220 2748220 + RNA SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 2748220 2748220 G A SNP GYG2 ENST00000381161 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors GYG2 HGNC ENSG00000056998 53 0 0 31 9 22.5 GYG2 0 genome.wustl.edu 37 X 2795326 2795326 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 2795326 2795326 C T SNP GYG2 ENST00000381163 human ensembl 74_37 +1 known missense c.1322 p.P441L 0.016 NULL pfam_Glyco_trans_8 - no_errors GYG2 HGNC ENSG00000056998 63 0 0 29 16 35.5556 IL1RAPL1 0 genome.wustl.edu 37 X 29959766 29959766 + Splice_Site SNP A A C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 29959766 29959766 A C SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known splice_site c.1058-2 e8-2 0.997 - - - no_errors IL1RAPL1 HGNC ENSG00000169306 235 0 0 107 66 38.1503 MAGEB3 0 genome.wustl.edu 37 X 30254059 30254059 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 30254059 30254059 G T SNP MAGEB3 ENST00000361644 human ensembl 74_37 +1 known missense c.18 p.K6N 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB3 HGNC ENSG00000198798 68 0 0 42 18 30 DMD 0 genome.wustl.edu 37 X 32717315 32717315 + Missense_Mutation SNP G G T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 32717315 32717315 G T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.745 p.Q249K 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 114 0 0 87 7 7.44681 TMEM47 0 genome.wustl.edu 37 X 34675058 34675058 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 34675058 34675058 G A SNP TMEM47 ENST00000275954 human ensembl 74_37 -1 known missense c.89 p.A30V 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors TMEM47 HGNC ENSG00000147027 10 0 0 7 4 36.3636 CXorf22 0 genome.wustl.edu 37 X 35969461 35969461 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 35969461 35969461 C T SNP CXorf22 ENST00000297866 human ensembl 74_37 +1 known silent c.870 p.A290 0.004 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 36 0 0 16 8 33.3333 SYTL5 0 genome.wustl.edu 37 X 37955458 37955458 + Missense_Mutation SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 37955458 37955458 A G SNP SYTL5 ENST00000456733 human ensembl 74_37 +1 known missense c.1033 p.S345G 1.000 NULL pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL5 HGNC ENSG00000147041 110 0 0 59 32 35.1648 USP9X 0 genome.wustl.edu 37 X 41069787 41069787 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 41069787 41069787 C T SNP USP9X ENST00000324545 human ensembl 74_37 +1 known missense c.5041 p.R1681C 0.984 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 109 0 0 63 21 25 CXorf36 0 genome.wustl.edu 37 X 45013320 45013320 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 45013320 45013320 C T SNP CXorf36 ENST00000398000 human ensembl 74_37 -1 known missense c.796 p.D266N 1.000 NULL NULL - no_errors CXorf36 HGNC ENSG00000147113 130 0 0 64 23 26.4368 ZNF157 0 genome.wustl.edu 37 X 47272096 47272096 + Silent SNP T T C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 47272096 47272096 T C SNP ZNF157 ENST00000377073 human ensembl 74_37 +1 known silent c.624 p.H208 0.973 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF157 HGNC ENSG00000147117 68 0 0 36 20 35.7143 UXT 0 genome.wustl.edu 37 X 47516675 47516675 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 47516675 47516675 C T SNP UXT ENST00000335890 human ensembl 74_37 -1 known missense c.299 p.R100H 0.974 pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,prints_PFD_UXT - no_errors UXT HGNC ENSG00000126756 23 0 0 10 5 33.3333 ZNF630 0 genome.wustl.edu 37 X 47919007 47919007 + Missense_Mutation SNP T T G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 47919007 47919007 T G SNP ZNF630 ENST00000409324 human ensembl 74_37 -1 known missense c.824 p.K275T 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF630 HGNC ENSG00000221994 103 0 0 57 33 36.6667 FOXP3 0 genome.wustl.edu 37 X 49108062 49108062 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 49108062 49108062 C T SNP FOXP3 ENST00000557224 human ensembl 74_37 -1 putative silent c.1104 p.G368 0.053 smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP3 HGNC ENSG00000049768 23 0 0 16 4 20 MAGED1 0 genome.wustl.edu 37 X 51638746 51638746 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 51638746 51638746 G A SNP MAGED1 ENST00000375695 human ensembl 74_37 +1 known missense c.811 p.D271N 0.039 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 23 0 0 19 10 34.4828 RIBC1 0 genome.wustl.edu 37 X 53453324 53453324 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 53453324 53453324 C T SNP RIBC1 ENST00000375327 human ensembl 74_37 +1 known missense c.100 p.R34W 1.000 pfam_RIB43A pfam_RIB43A - no_errors RIBC1 HGNC ENSG00000158423 21 0 0 15 3 16.6667 RRAGB 0 genome.wustl.edu 37 X 55748700 55748700 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 55748700 55748700 C T SNP RRAGB ENST00000262850 human ensembl 74_37 +1 known missense c.208 p.R70C 1.000 pfam_Gtr1_RagA,superfamily_P-loop_NTPase pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase - no_errors RRAGB HGNC ENSG00000083750 88 0 0 49 21 30 NLGN4X 0 genome.wustl.edu 37 X 5821694 5821694 + Missense_Mutation SNP G G A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 5821694 5821694 G A SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.1085 p.P362L 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 124 0 0 86 35 28.9256 EDA2R 0 genome.wustl.edu 37 X 65824948 65824948 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 65824948 65824948 C A SNP EDA2R ENST00000253392 human ensembl 74_37 -1 known missense c.208 p.V70F 0.996 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_27 - no_errors EDA2R HGNC ENSG00000131080 26 0 0 18 5 21.7391 XIST 0 genome.wustl.edu 37 X 73064010 73064010 + RNA SNP A A G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 73064010 73064010 A G SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors XIST HGNC ENSG00000229807 183 1 0.543478 95 42 30.6569 TAF9B 0 genome.wustl.edu 37 X 77387182 77387182 + Silent SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 77387182 77387182 C T SNP TAF9B ENST00000341864 human ensembl 74_37 -1 known silent c.681 p.S227 1.000 NULL pfam_TFIID-31,superfamily_Histone-fold - no_errors TAF9B HGNC ENSG00000187325 156 0 0 104 46 30.6667 TAF9B 0 genome.wustl.edu 37 X 77393320 77393320 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 77393320 77393320 C T SNP TAF9B ENST00000341864 human ensembl 74_37 -1 known missense c.331 p.A111T 0.969 pfam_TFIID-31 pfam_TFIID-31,superfamily_Histone-fold - no_errors TAF9B HGNC ENSG00000187325 94 0 0 66 20 23.2558 FAM133A 0 genome.wustl.edu 37 X 92965080 92965080 + Missense_Mutation SNP A A T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 92965080 92965080 A T SNP FAM133A ENST00000322139 human ensembl 74_37 +1 known missense c.662 p.K221I 0.524 NULL NULL - no_errors FAM133A HGNC ENSG00000179083 23 0 0 25 13 34.2105 RPA4 0 genome.wustl.edu 37 X 96139979 96139979 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 96139979 96139979 C T SNP RPA4 ENST00000373040 human ensembl 74_37 +1 known missense c.670 p.R224W 0.004 pfam_RPA_C,pirsf_RPA32 pfam_RPA_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_RPA32 - no_errors RPA4 HGNC ENSG00000204086 141 0 0 83 33 28.4483 TBL1X 0 genome.wustl.edu 37 X 9661211 9661211 + Missense_Mutation SNP C C T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 9661211 9661211 C T SNP TBL1X ENST00000217964 human ensembl 74_37 +1 known missense c.914 p.T305M 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1X HGNC ENSG00000101849 171 0 0 83 46 35.6589 SHROOM2 0 genome.wustl.edu 37 X 9864116 9864116 + Missense_Mutation SNP C C A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 9864116 9864116 C A SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known missense c.2168 p.T723N 0.000 pfam_ASD1 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 29 0 0 19 14 42.4242 UBE4B 0 genome.wustl.edu 37 1 10190819 10190819 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 10190819 10190819 A - DEL UBE4B ENST00000343090 human ensembl 74_37 +1 known frame_shift_del c.1859 p.N621fs 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 196 0 0 92 31 25.2033 ATXN7L2 0 genome.wustl.edu 37 1 110035319 110035319 + RNA DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 110035319 110035319 T - DEL ATXN7L2 ENST00000459635 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ATXN7L2 HGNC ENSG00000162650 32 0 0 38 11 22.449 EPS8L3 0 genome.wustl.edu 37 1 110300580 110300580 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 110300580 110300580 T - DEL EPS8L3 ENST00000369805 human ensembl 74_37 -1 known frame_shift_del c.821 p.N274fs 0.352 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L3 HGNC ENSG00000198758 163 0 0 76 47 38.2114 AP4B1-AS1 0 genome.wustl.edu 37 1 114400196 114400196 + RNA DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 114400196 114400196 A - DEL AP4B1-AS1 ENST00000419536 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AP4B1-AS1 HGNC ENSG00000226167 13 0 0 10 5 33.3333 SYCP1 0 genome.wustl.edu 37 1 115537601 115537601 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 115537601 115537601 A - DEL SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_del c.2892 p.K967fs 1.000 NULL pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 63 0 0 31 31 50 MXRA8 0 genome.wustl.edu 37 1 1290110 1290110 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 1290110 1290110 G - DEL MXRA8 ENST00000445648 human ensembl 74_37 -1 known frame_shift_del c.901 p.R301fs 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MXRA8 HGNC ENSG00000162576 27 0 0 9 15 62.5 TPM3 0 genome.wustl.edu 37 1 154144674 154144674 + RNA DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 154144674 154144674 A - DEL TPM3 ENST00000469717 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TPM3 HGNC ENSG00000143549 41 0 0 46 13 22.0339 FCRL5 0 genome.wustl.edu 37 1 157490981 157490981 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 157490981 157490981 G - DEL FCRL5 ENST00000356953 human ensembl 74_37 -1 known frame_shift_del c.2341 p.L781fs 0.604 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 117 0 0 64 23 26.4368 NIT1 0 genome.wustl.edu 37 1 161090341 161090342 + Frame_Shift_Del DEL CA CA - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 161090341 161090342 CA - DEL NIT1 ENST00000368009 human ensembl 74_37 +1 known frame_shift_del c.770_771 p.Q258fs 1.000:0.999 superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors NIT1 HGNC ENSG00000158793 85 0 0 53 24 31.1688 DEDD 0 genome.wustl.edu 37 1 161091815 161091818 + RNA DEL AAAA AAAA - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 161091815 161091818 AAAA - DEL DEDD ENST00000486041 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:1.000:1.000 - - - no_errors DEDD HGNC ENSG00000158796 31 0 0 21 8 27.5862 NPHS2 0 genome.wustl.edu 37 1 179528881 179528881 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 179528881 179528881 A - DEL NPHS2 ENST00000367615 human ensembl 74_37 -1 known frame_shift_del c.467 p.L156fs 1.000 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors NPHS2 HGNC ENSG00000116218 15 0 0 8 3 27.2727 USP48 0 genome.wustl.edu 37 1 22033369 22033370 + Frame_Shift_Ins INS - - A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 22033369 22033370 - A INS USP48 ENST00000529637 human ensembl 74_37 -1 novel frame_shift_ins c.1992_1991 p.L664fs 0.002:0.003 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 67 0 0 41 7 14.5833 URB2 0 genome.wustl.edu 37 1 229772726 229772726 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 229772726 229772726 A - DEL URB2 ENST00000258243 human ensembl 74_37 +1 known frame_shift_del c.2366 p.I791fs 0.000 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 130 0 0 71 27 27.551 B3GALNT2 0 genome.wustl.edu 37 1 235613601 235613603 + In_Frame_Del DEL GAG GAG - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 235613601 235613603 GAG - DEL B3GALNT2 ENST00000366600 human ensembl 74_37 -1 known in_frame_del c.1423_1421 p.P474in_frame_del 1.000:0.126:1.000 NULL pfam_Glyco_trans_31 - no_errors B3GALNT2 HGNC ENSG00000162885 73 0 0 44 27 38.0282 OPN3 0 genome.wustl.edu 37 1 241767800 241767801 + Frame_Shift_Ins INS - - A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 241767800 241767801 - A INS OPN3 ENST00000366554 human ensembl 74_37 -1 known frame_shift_ins c.455_454 p.S152fs 1.000:0.994 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OPN3 HGNC ENSG00000054277 67 0 0 37 18 32.7273 COX20 0 genome.wustl.edu 37 1 245006587 245006587 + RNA DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 245006587 245006587 T - DEL COX20 ENST00000391839 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors COX20 HGNC ENSG00000203667 22 0 0 11 9 45 ZNF496 0 genome.wustl.edu 37 1 247492893 247492894 + RNA INS - - G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 247492893 247492894 - G INS ZNF496 ENST00000478225 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors ZNF496 HGNC ENSG00000162714 154 0 0 93 32 25.6 ARID1A 0 genome.wustl.edu 37 1 27105931 27105931 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 27105931 27105931 G - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.5542 p.D1850fs 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 137 0 0 83 32 27.8261 DLGAP3 0 genome.wustl.edu 37 1 35370730 35370731 + Frame_Shift_Ins INS - - C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 35370730 35370731 - C INS DLGAP3 ENST00000235180 human ensembl 74_37 -1 known frame_shift_ins c.255_254 p.S86fs 0.928:1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 11 0 0 3 2 40 CLSPN 0 genome.wustl.edu 37 1 36215282 36215283 + Frame_Shift_Del DEL GA GA - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 36215282 36215283 GA - DEL CLSPN ENST00000318121 human ensembl 74_37 -1 known frame_shift_del c.2159_2158 p.S720fs 0.985:0.984 NULL NULL - no_errors CLSPN HGNC ENSG00000092853 79 0 0 30 21 41.1765 PPAP2B 0 genome.wustl.edu 37 1 56962089 56962089 + RNA DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 56962089 56962089 T - DEL PPAP2B ENST00000472957 human ensembl 74_37 -1 known rna NULL NULL 0.869 - - - no_errors PPAP2B HGNC ENSG00000162407 19 0 0 10 5 33.3333 DOCK7 0 genome.wustl.edu 37 1 62941104 62941104 + RNA DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 62941104 62941104 A - DEL DOCK7 ENST00000467758 human ensembl 74_37 -1 known rna NULL NULL 0.057 - - - no_errors DOCK7 HGNC ENSG00000116641 17 0 0 12 7 36.8421 UTS2 0 genome.wustl.edu 37 1 7913491 7913491 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 7913491 7913491 T - DEL UTS2 ENST00000054668 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 0.140 NULL pfam_Urotensin_II - no_errors UTS2 HGNC ENSG00000049247 124 0 0 64 23 26.4368 TNFRSF9 0 genome.wustl.edu 37 1 7998254 7998254 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 7998254 7998254 T - DEL TNFRSF9 ENST00000377507 human ensembl 74_37 -1 known frame_shift_del c.345 p.G116fs 0.019 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_9 - no_errors TNFRSF9 HGNC ENSG00000049249 164 0 0 74 47 38.843 PARK7 0 genome.wustl.edu 37 1 8029466 8029467 + Splice_Site INS - - A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 8029466 8029467 - A INS PARK7 ENST00000338639 human ensembl 74_37 +1 known splice_site_ins c.252+2_252+1 e3+2 1.000:1.000 - - - no_errors PARK7 HGNC ENSG00000116288 36 0 0 25 10 28.5714 ERRFI1 0 genome.wustl.edu 37 1 8074255 8074255 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 8074255 8074255 T - DEL ERRFI1 ENST00000377482 human ensembl 74_37 -1 known frame_shift_del c.404 p.N135fs 0.000 NULL pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6 - no_errors ERRFI1 HGNC ENSG00000116285 113 0 0 92 54 36.9863 CTBS 0 genome.wustl.edu 37 1 85020568 85020568 + RNA DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 85020568 85020568 T - DEL CTBS ENST00000477677 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTBS HGNC ENSG00000117151 19 0 0 5 6 54.5455 ARHGAP29 0 genome.wustl.edu 37 1 94649826 94649827 + Frame_Shift_Del DEL CA CA - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 94649826 94649827 CA - DEL ARHGAP29 ENST00000260526 human ensembl 74_37 -1 known frame_shift_del c.2128_2127 p.C709fs 1.000:1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 99 0 0 57 9 13.6364 SLC44A3 0 genome.wustl.edu 37 1 95357932 95357932 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 1 95357932 95357932 T - DEL SLC44A3 ENST00000271227 human ensembl 74_37 +1 known frame_shift_del c.1716 p.F574fs 0.782 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A3 HGNC ENSG00000143036 219 0 0 126 51 28.8136 PSD 0 genome.wustl.edu 37 10 104176203 104176203 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 104176203 104176203 C - DEL PSD ENST00000020673 human ensembl 74_37 -1 known frame_shift_del c.593 p.G198fs 0.774 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 24 0 0 25 6 19.3548 ADD3 0 genome.wustl.edu 37 10 111893350 111893351 + Frame_Shift_Del DEL AA AA - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 111893350 111893351 AA - DEL ADD3 ENST00000356080 human ensembl 74_37 +1 known frame_shift_del c.2095_2096 p.K701fs 1.000:1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 118 0 0 58 24 29.2683 NRAP 0 genome.wustl.edu 37 10 115348832 115348832 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 115348832 115348832 C - DEL NRAP ENST00000369358 human ensembl 74_37 -1 known frame_shift_del c.5119 p.A1707fs 0.001 NULL pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 72 0 0 59 13 18.0556 WDR11 0 genome.wustl.edu 37 10 122648731 122648731 + RNA DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 122648731 122648731 A - DEL WDR11 ENST00000604509 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WDR11 HGNC ENSG00000120008 59 0 0 34 14 29.1667 C10orf137 0 genome.wustl.edu 37 10 127426891 127426891 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 127426891 127426891 A - DEL C10orf137 ENST00000356792 human ensembl 74_37 +1 known frame_shift_del c.1858 p.E622fs 1.000 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 143 0 0 81 14 14.7368 ST8SIA6 0 genome.wustl.edu 37 10 17363321 17363321 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 17363321 17363321 T - DEL ST8SIA6 ENST00000377602 human ensembl 74_37 -1 known frame_shift_del c.753 p.A252fs 0.024 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA6 HGNC ENSG00000148488 52 0 0 40 12 23.0769 ZNF438 0 genome.wustl.edu 37 10 31133959 31133959 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 31133959 31133959 T - DEL ZNF438 ENST00000361310 human ensembl 74_37 -1 known frame_shift_del c.2418 p.K806fs 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 301 0 0 178 77 30.1961 ENSG00000235939 0 genome.wustl.edu 37 10 50680934 50680934 + RNA DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 50680934 50680934 A - DEL ENSG00000235939 ENST00000423283 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-123B3.2 Clone_based_vega_gene ENSG00000235939 29 0 0 12 12 50 ENSG00000231345 0 genome.wustl.edu 37 10 52417861 52417861 + RNA DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 52417861 52417861 T - DEL ENSG00000231345 ENST00000449695 human ensembl 74_37 +1 known rna NULL NULL 0.690 - - - no_errors RP11-564C4.6 Clone_based_vega_gene ENSG00000231345 22 0 0 12 5 29.4118 JMJD1C 0 genome.wustl.edu 37 10 64974641 64974641 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 64974641 64974641 T - DEL JMJD1C ENST00000399262 human ensembl 74_37 -1 known frame_shift_del c.1286 p.N429fs 0.977 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 97 0 0 45 22 32.8358 SUPV3L1 0 genome.wustl.edu 37 10 70968805 70968805 + RNA DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 70968805 70968805 T - DEL SUPV3L1 ENST00000497254 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SUPV3L1 HGNC ENSG00000156502 46 0 0 22 10 31.25 HKDC1 0 genome.wustl.edu 37 10 70987066 70987067 + Frame_Shift_Ins INS - - CC TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 70987066 70987067 - CC INS HKDC1 ENST00000354624 human ensembl 74_37 +1 known frame_shift_ins c.167_168 p.T58fs 1.000:1.000 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 86 0 0 70 16 18.6047 C10orf54 0 genome.wustl.edu 37 10 73511467 73511467 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 73511467 73511467 G - DEL C10orf54 ENST00000394957 human ensembl 74_37 -1 known frame_shift_del c.856 p.L286fs 0.979 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors C10orf54 HGNC ENSG00000107738 68 0 0 30 15 33.3333 STAMBPL1 0 genome.wustl.edu 37 10 90682146 90682146 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 10 90682146 90682146 A - DEL STAMBPL1 ENST00000371927 human ensembl 74_37 +1 known frame_shift_del c.1207 p.K405fs 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors STAMBPL1 HGNC ENSG00000138134 82 0 0 44 17 27.8689 MUC6 0 genome.wustl.edu 37 11 1026400 1026401 + Frame_Shift_Ins INS - - G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 1026400 1026401 - G INS MUC6 ENST00000421673 human ensembl 74_37 -1 known frame_shift_ins c.2473_2472 p.E824fs 0.757:0.370 pfam_TIL_dom,superfamily_TIL_dom 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 39 0 0 18 11 37.931 CASP5 0 genome.wustl.edu 37 11 104874011 104874011 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 104874011 104874011 T - DEL CASP5 ENST00000393141 human ensembl 74_37 -1 known frame_shift_del c.572 p.N191fs 0.006 pirsf_Caspase_IL-1_beta 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 CASP5 HGNC ENSG00000137757 153 1 0.649351 67 34 33.6634 CEP164 0 genome.wustl.edu 37 11 117222648 117222648 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 117222648 117222648 A - DEL CEP164 ENST00000278935 human ensembl 74_37 +1 known frame_shift_del c.337 p.K116fs 1.000 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 24 0 0 24 13 35.1351 DCPS 0 genome.wustl.edu 37 11 126215566 126215566 + RNA DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 126215566 126215566 T - DEL DCPS ENST00000530860 human ensembl 74_37 +1 known rna NULL NULL 0.463 - - - no_errors DCPS HGNC ENSG00000110063 61 0 0 54 25 31.6456 KRTAP5-1 0 genome.wustl.edu 37 11 1605953 1605953 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 1605953 1605953 C - DEL KRTAP5-1 ENST00000382171 human ensembl 74_37 -1 known frame_shift_del c.527 p.G176fs 0.999 NULL NULL - no_errors KRTAP5-1 HGNC ENSG00000205869 185 0 0 125 29 18.8312 PIK3C2A 0 genome.wustl.edu 37 11 17190949 17190949 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 17190949 17190949 T - DEL PIK3C2A ENST00000265970 human ensembl 74_37 -1 known frame_shift_del c.340 p.T114fs 0.984 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_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 144 0 0 93 34 26.7717 KCNA4 0 genome.wustl.edu 37 11 30033563 30033563 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 30033563 30033563 A - DEL KCNA4 ENST00000328224 human ensembl 74_37 -1 known frame_shift_del c.663 p.F221fs 0.902 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 92 0 0 54 30 35.7143 KCNA4 0 genome.wustl.edu 37 11 30034059 30034059 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 30034059 30034059 C - DEL KCNA4 ENST00000328224 human ensembl 74_37 -1 known frame_shift_del c.167 p.G56fs 0.701 pfam_K_chnl_volt-dep_Kv1.4_TID,prints_K_chnl_volt-dep_Kv1.4 pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 103 0 0 58 27 31.7647 ACCS 0 genome.wustl.edu 37 11 44097139 44097139 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 44097139 44097139 G - DEL ACCS ENST00000263776 human ensembl 74_37 +1 known frame_shift_del c.553 p.E186fs 0.981 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCS HGNC ENSG00000110455 88 0 0 44 23 34.3284 OR51E2 0 genome.wustl.edu 37 11 4703475 4703475 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 4703475 4703475 A - DEL OR51E2 ENST00000396950 human ensembl 74_37 -1 known frame_shift_del c.467 p.F156fs 0.027 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 OR51E2 HGNC ENSG00000167332 86 0 0 61 26 29.8851 TRIM51HP 0 genome.wustl.edu 37 11 55065032 55065032 + RNA DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 55065032 55065032 T - DEL TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.010 - - - no_errors TRIM51HP HGNC ENSG00000166007 49 0 0 38 11 22.449 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 55653610 55653610 A - DEL TRIM51 ENST00000449290 human ensembl 74_37 +1 known frame_shift_del c.423 p.M144fs 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 54 0 0 37 15 28.8462 CTNND1 0 genome.wustl.edu 37 11 57564070 57564070 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 57564070 57564070 G - DEL CTNND1 ENST00000399050 human ensembl 74_37 +1 known frame_shift_del c.562 p.G189fs 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 353 0 0 186 55 22.8216 GLYATL2 0 genome.wustl.edu 37 11 58604601 58604601 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 58604601 58604601 T - DEL GLYATL2 ENST00000287275 human ensembl 74_37 -1 known frame_shift_del c.363 p.K121fs 0.035 pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,pfam_FR47,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL2 HGNC ENSG00000156689 114 0 0 69 31 31 PPP1R14B 0 genome.wustl.edu 37 11 64014044 64014044 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 64014044 64014044 G - DEL PPP1R14B ENST00000309318 human ensembl 74_37 -1 known frame_shift_del c.102 p.A36fs 1.000 NULL pfam_PP1_inhibitor,superfamily_PP1_inhibitor - no_errors PPP1R14B HGNC ENSG00000173457 20 0 0 8 5 38.4615 PPP2R5B 0 genome.wustl.edu 37 11 64693273 64693273 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 64693273 64693273 C - DEL PPP2R5B ENST00000164133 human ensembl 74_37 +1 known frame_shift_del c.67 p.P24fs 1.000 pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC ENSG00000068971 23 0 0 10 7 41.1765 SSH3 0 genome.wustl.edu 37 11 67079247 67079252 + In_Frame_Del DEL GCAGGG GCAGGG - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 GCAGGG GCAGGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 67079247 67079252 GCAGGG - DEL SSH3 ENST00000308127 human ensembl 74_37 +1 known in_frame_del c.1869_1874 p.GQ627in_frame_del 0.905:0.925:0.918:0.902:0.899:0.881 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH3 HGNC ENSG00000172830 97 0 0 33 16 32.6531 SHANK2 0 genome.wustl.edu 37 11 70333007 70333007 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 70333007 70333007 C - DEL SHANK2 ENST00000338508 human ensembl 74_37 -1 known frame_shift_del c.3394 p.D1132fs 0.148 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 59 0 0 41 16 28.0702 ENSG00000254420 0 genome.wustl.edu 37 11 78154811 78154812 + RNA DEL AA AA - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 78154811 78154812 AA - DEL ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.006 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 36 0 0 13 10 43.4783 CEP57 0 genome.wustl.edu 37 11 95564332 95564332 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 11 95564332 95564332 A - DEL CEP57 ENST00000325542 human ensembl 74_37 +1 known frame_shift_del c.1415 p.R474fs 1.000 NULL pfam_Cep57_MT-bd_dom - no_errors CEP57 HGNC ENSG00000166037 55 0 0 29 17 36.9565 ANKS1B 0 genome.wustl.edu 37 12 100166681 100166682 + RNA INS - - C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 100166681 100166682 - C INS ANKS1B ENST00000552472 human ensembl 74_37 -1 putative rna NULL NULL 0.001:0.001 - - - no_errors ANKS1B HGNC ENSG00000185046 48 0 0 24 12 33.3333 GOLGA2P5 0 genome.wustl.edu 37 12 100550347 100550347 + RNA DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 100550347 100550347 C - DEL GOLGA2P5 ENST00000397112 human ensembl 74_37 -1 known rna NULL NULL 0.243 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 14 0 0 4 2 33.3333 GNPTAB 0 genome.wustl.edu 37 12 102158001 102158002 + Frame_Shift_Ins INS - - T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 102158001 102158002 - T INS GNPTAB ENST00000299314 human ensembl 74_37 -1 known frame_shift_ins c.2694_2693 p.Y899fs 1.000:1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 198 1 0.502513 111 43 27.9221 HCFC2 0 genome.wustl.edu 37 12 104497057 104497057 + RNA DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 104497057 104497057 T - DEL HCFC2 ENST00000550335 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HCFC2 HGNC ENSG00000111727 61 0 0 41 16 28.0702 MVK 0 genome.wustl.edu 37 12 110019240 110019240 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 110019240 110019240 C - DEL MVK ENST00000228510 human ensembl 74_37 +1 known frame_shift_del c.412 p.A141fs 1.000 pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin - no_errors MVK HGNC ENSG00000110921 115 0 0 72 21 22.5806 NAA25 0 genome.wustl.edu 37 12 112492200 112492202 + In_Frame_Del DEL ATC ATC - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 ATC ATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 112492200 112492202 ATC - DEL NAA25 ENST00000261745 human ensembl 74_37 -1 known in_frame_del c.1620_1618 p.D540in_frame_del 1.000:1.000:1.000 pfam_N-acetylTrfase_B_cplx_non-cat pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 93 0 0 32 18 36 RASAL1 0 genome.wustl.edu 37 12 113553853 113553853 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 113553853 113553853 C - DEL RASAL1 ENST00000546530 human ensembl 74_37 -1 known frame_shift_del c.735 p.N246fs 0.000 superfamily_C2_dom,smart_RasGAP pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC ENSG00000111344 74 0 0 53 10 15.873 VPS37B 0 genome.wustl.edu 37 12 123351892 123351893 + Frame_Shift_Del DEL GG GG - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 123351892 123351893 GG - DEL VPS37B ENST00000267202 human ensembl 74_37 -1 known frame_shift_del c.629_628 p.P210fs 0.609:0.698 NULL pfam_Mod_r - no_errors VPS37B HGNC ENSG00000139722 19 0 0 17 10 37.037 SBNO1 0 genome.wustl.edu 37 12 123794282 123794283 + Frame_Shift_Ins INS - - T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 123794282 123794283 - T INS SBNO1 ENST00000420886 human ensembl 74_37 -1 known frame_shift_ins c.3417_3416 p.N1139fs 1.000:1.000 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 112 1 0.884956 86 26 23.2143 GRIN2B 0 genome.wustl.edu 37 12 14019043 14019044 + Frame_Shift_Ins INS - - G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 14019043 14019044 - G INS GRIN2B ENST00000609686 human ensembl 74_37 -1 known frame_shift_ins c.100_99 p.S33fs 1.000:1.000 superfamily_Peripla_BP_I pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 64 0 0 57 15 20.8333 FAM60A 0 genome.wustl.edu 37 12 31448178 31448178 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 31448178 31448178 T - DEL FAM60A ENST00000337682 human ensembl 74_37 -1 known frame_shift_del c.218 p.N73fs 1.000 NULL NULL - no_errors FAM60A HGNC ENSG00000139146 47 0 0 15 31 67.3913 ALG10 0 genome.wustl.edu 37 12 34179308 34179308 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 34179308 34179308 T - DEL ALG10 ENST00000266483 human ensembl 74_37 +1 known frame_shift_del c.880 p.S296fs 1.000 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10 HGNC ENSG00000139133 153 0 0 113 42 27.0968 DYRK4 0 genome.wustl.edu 37 12 4719362 4719362 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 4719362 4719362 A - DEL DYRK4 ENST00000010132 human ensembl 74_37 +1 known frame_shift_del c.1057 p.R355fs 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK4 HGNC ENSG00000010219 88 0 0 56 24 30 KMT2D 0 genome.wustl.edu 37 12 49447773 49447773 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 49447773 49447773 C - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.661 p.A221fs 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 73 0 0 38 9 19.1489 RACGAP1 0 genome.wustl.edu 37 12 50384071 50384072 + Frame_Shift_Ins INS - - A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 50384071 50384072 - A INS RACGAP1 ENST00000312377 human ensembl 74_37 -1 known frame_shift_ins c.1879_1878 p.A626fs 1.000:1.000 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors RACGAP1 HGNC ENSG00000161800 127 0 0 52 13 20 TENC1 0 genome.wustl.edu 37 12 53453399 53453399 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 53453399 53453399 G - DEL TENC1 ENST00000314276 human ensembl 74_37 +1 known frame_shift_del c.2004 p.K670fs 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 102 0 0 68 14 17.0732 AMHR2 0 genome.wustl.edu 37 12 53819645 53819645 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 53819645 53819645 G - DEL AMHR2 ENST00000257863 human ensembl 74_37 +1 known frame_shift_del c.794 p.G267fs 0.935 pirsf_Anti-muellerian_hrmn_rcpt_II,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 pirsf_Anti-muellerian_hrmn_rcpt_II,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AMHR2 HGNC ENSG00000135409 89 0 0 55 15 21.4286 MAP3K12 0 genome.wustl.edu 37 12 53877706 53877708 + In_Frame_Del DEL CCT CCT - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 53877706 53877708 CCT - DEL MAP3K12 ENST00000267079 human ensembl 74_37 -1 known in_frame_del c.1248_1246 p.R416in_frame_del 1.000:1.000:0.990 pirsf_MAP3K12_MAP3K13,superfamily_Kinase-like_dom pirsf_MAP3K12_MAP3K13,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K12 HGNC ENSG00000139625 313 0 0 135 52 27.8075 OR6C75 0 genome.wustl.edu 37 12 55759486 55759486 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 55759486 55759486 T - DEL OR6C75 ENST00000343399 human ensembl 74_37 +1 known frame_shift_del c.592 p.L200fs 0.582 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 OR6C75 HGNC ENSG00000187857 83 0 0 48 25 34.2466 STAT2 0 genome.wustl.edu 37 12 56744034 56744034 + RNA DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 56744034 56744034 A - DEL STAT2 ENST00000557252 human ensembl 74_37 -1 known rna NULL NULL 0.040 - - - no_errors STAT2 HGNC ENSG00000170581 49 0 0 30 28 48.2759 MBD6 0 genome.wustl.edu 37 12 57921731 57921732 + Frame_Shift_Ins INS - - G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 57921731 57921732 - G INS MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_ins c.2337_2338 p.A782fs 1.000:1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 82 0 0 67 17 20.2381 CD4 0 genome.wustl.edu 37 12 6924043 6924043 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 6924043 6924043 G - DEL CD4 ENST00000011653 human ensembl 74_37 +1 known frame_shift_del c.492 p.K167fs 0.000 pfam_Ig_C2-set,smart_Ig_sub,smart_Ig_sub2 pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 98 0 0 69 23 25 C1S 0 genome.wustl.edu 37 12 7173239 7173239 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 7173239 7173239 A - DEL C1S ENST00000328916 human ensembl 74_37 +1 known frame_shift_del c.836 p.K281fs 0.022 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors C1S HGNC ENSG00000182326 107 0 0 62 25 28.7356 TMTC3 0 genome.wustl.edu 37 12 88588948 88588949 + Frame_Shift_Ins INS - - A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 12 88588948 88588949 - A INS TMTC3 ENST00000266712 human ensembl 74_37 +1 known frame_shift_ins c.2267_2268 p.C759fs 1.000:0.976 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC ENSG00000139324 68 0 0 59 19 24.359 UPF3A 0 genome.wustl.edu 37 13 115051799 115051800 + Frame_Shift_Del DEL AG AG - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 13 115051799 115051800 AG - DEL UPF3A ENST00000375299 human ensembl 74_37 +1 known frame_shift_del c.444_445 p.E149fs 0.980:1.000 pfam_Nonsense_mediated_decay_UPF3 pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 133 0 0 67 28 29.4737 MPHOSPH8 0 genome.wustl.edu 37 13 20245322 20245322 + RNA DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 13 20245322 20245322 T - DEL MPHOSPH8 ENST00000496525 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MPHOSPH8 HGNC ENSG00000196199 33 0 0 19 3 13.6364 SACS 0 genome.wustl.edu 37 13 23908934 23908934 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 13 23908934 23908934 A - DEL SACS ENST00000382292 human ensembl 74_37 -1 known frame_shift_del c.9081 p.F3027fs 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 76 0 0 45 27 37.5 MEDAG 0 genome.wustl.edu 37 13 31480852 31480852 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 13 31480852 31480852 G - DEL MEDAG ENST00000380482 human ensembl 74_37 +1 known frame_shift_del c.200 p.G69fs 0.590 NULL NULL - no_errors MEDAG HGNC ENSG00000102802 12 0 0 6 2 25 AKAP11 0 genome.wustl.edu 37 13 42874500 42874500 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 13 42874500 42874500 A - DEL AKAP11 ENST00000025301 human ensembl 74_37 +1 known frame_shift_del c.1618 p.N541fs 0.987 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 39 0 0 21 15 41.6667 UTP14C 0 genome.wustl.edu 37 13 52604361 52604361 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 13 52604361 52604361 A - DEL UTP14C ENST00000521776 human ensembl 74_37 +1 known frame_shift_del c.1421 p.A476fs 0.136 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14C HGNC ENSG00000253797 226 0 0 139 53 27.6042 SLC15A1 0 genome.wustl.edu 37 13 99354751 99354751 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 13 99354751 99354751 T - DEL SLC15A1 ENST00000376503 human ensembl 74_37 -1 known frame_shift_del c.1449 p.E485fs 0.999 superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A1 HGNC ENSG00000088386 154 0 0 82 38 31.6667 EML1 0 genome.wustl.edu 37 14 100402660 100402660 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 100402660 100402660 A - DEL EML1 ENST00000334192 human ensembl 74_37 +1 known frame_shift_del c.2141 p.I715fs 1.000 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 42 0 0 22 7 24.1379 HSP90AA1 0 genome.wustl.edu 37 14 102551160 102551161 + In_Frame_Ins INS - - TCT TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 102551160 102551161 - TCT INS HSP90AA1 ENST00000334701 human ensembl 74_37 -1 known in_frame_ins c.1205_1204 p.402in_frame_insK 1.000:1.000 pirsf_Hsp90_fam,pfam_Hsp90_fam pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC ENSG00000080824 53 0 0 36 11 23.4043 INF2 0 genome.wustl.edu 37 14 105169757 105169758 + Frame_Shift_Del DEL GC GC - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 105169757 105169758 GC - DEL INF2 ENST00000392634 human ensembl 74_37 +1 known frame_shift_del c.633_634 p.R214fs 0.654:0.649 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 235 0 0 144 22 13.253 MTA1 0 genome.wustl.edu 37 14 105936238 105936239 + Frame_Shift_Ins INS - - G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 105936238 105936239 - G INS MTA1 ENST00000331320 human ensembl 74_37 +1 known frame_shift_ins c.1906_1907 p.S639fs 0.998:0.999 NULL pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA1 HGNC ENSG00000182979 24 0 0 16 6 27.2727 ACIN1 0 genome.wustl.edu 37 14 23549379 23549379 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 23549379 23549379 C - DEL ACIN1 ENST00000262710 human ensembl 74_37 -1 known frame_shift_del c.1339 p.A447fs 0.998 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 87 0 0 59 14 19.1781 ARHGAP5 0 genome.wustl.edu 37 14 32562696 32562696 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 32562696 32562696 A - DEL ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known frame_shift_del c.2821 p.N943fs 1.000 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 81 0 0 38 25 39.6825 NKX2-1-AS1 0 genome.wustl.edu 37 14 36988613 36988613 + RNA DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 36988613 36988613 G - DEL NKX2-1-AS1 ENST00000521292 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NKX2-1-AS1 HGNC ENSG00000253563 24 0 0 13 7 35 GCH1 0 genome.wustl.edu 37 14 55310426 55310426 + RNA DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 55310426 55310426 A - DEL GCH1 ENST00000254299 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GCH1 HGNC ENSG00000131979 36 0 0 31 10 24.3902 ENSG00000258428 0 genome.wustl.edu 37 14 57099977 57099977 + RNA DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 57099977 57099977 T - DEL ENSG00000258428 ENST00000553800 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-1085N6.2 Clone_based_vega_gene ENSG00000258428 12 0 0 8 7 46.6667 C14orf37 0 genome.wustl.edu 37 14 58598353 58598353 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 58598353 58598353 C - DEL C14orf37 ENST00000267485 human ensembl 74_37 -1 known frame_shift_del c.1708 p.E570fs 0.000 NULL NULL - no_errors C14orf37 HGNC ENSG00000139971 107 0 0 57 23 28.75 SIPA1L1 0 genome.wustl.edu 37 14 72054754 72054755 + Frame_Shift_Ins INS - - C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 72054754 72054755 - C INS SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known frame_shift_ins c.165_166 p.R57fs 0.981:1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 144 1 0.689655 101 29 22.3077 DPF3 0 genome.wustl.edu 37 14 73190445 73190446 + RNA DEL AA AA - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 73190445 73190446 AA - DEL DPF3 ENST00000556238 human ensembl 74_37 -1 known rna NULL NULL 0.887:0.927 - - - no_errors DPF3 HGNC ENSG00000205683 97 0 0 54 19 26.0274 ELMSAN1 0 genome.wustl.edu 37 14 74205773 74205773 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 74205773 74205773 G - DEL ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known frame_shift_del c.939 p.N314fs 0.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 23 0 0 18 12 40 DLST 0 genome.wustl.edu 37 14 75359617 75359617 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 75359617 75359617 C - DEL DLST ENST00000334220 human ensembl 74_37 +1 known frame_shift_del c.523 p.P176fs 1.000 tigrfam_SucB pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl,tigrfam_SucB - no_errors DLST HGNC ENSG00000119689 63 0 0 35 26 42.623 SAMD15 0 genome.wustl.edu 37 14 77844868 77844869 + Frame_Shift_Ins INS - - A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 77844868 77844869 - A INS SAMD15 ENST00000216471 human ensembl 74_37 +1 known frame_shift_ins c.1107_1108 p.N371fs 0.000:0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD15 HGNC ENSG00000100583 109 0 0 68 22 24.4444 ATG2B 0 genome.wustl.edu 37 14 96770878 96770878 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 96770878 96770878 C - DEL ATG2B ENST00000359933 human ensembl 74_37 -1 known frame_shift_del c.4796 p.G1599fs 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 166 0 0 58 32 35.5556 ATG2B 0 genome.wustl.edu 37 14 96788613 96788614 + RNA INS - - A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 14 96788613 96788614 - A INS ATG2B ENST00000488421 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ATG2B HGNC ENSG00000066739 73 0 0 37 5 11.9048 NIPA2 0 genome.wustl.edu 37 15 23021239 23021239 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 23021239 23021239 T - DEL NIPA2 ENST00000337451 human ensembl 74_37 -1 known frame_shift_del c.98 p.K33fs 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPA2 HGNC ENSG00000140157 130 0 0 73 30 29.1262 MKRN3 0 genome.wustl.edu 37 15 23811404 23811405 + Frame_Shift_Ins INS - - C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 23811404 23811405 - C INS MKRN3 ENST00000314520 human ensembl 74_37 +1 known frame_shift_ins c.475_476 p.A162fs 0.960:0.962 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 65 0 0 47 17 26.5625 MTMR10 0 genome.wustl.edu 37 15 31234037 31234038 + Frame_Shift_Del DEL CA CA - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 31234037 31234038 CA - DEL MTMR10 ENST00000435680 human ensembl 74_37 -1 known frame_shift_del c.1970_1969 p.W657fs 1.000:1.000 pfam_Myotubularin_assoc pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR10 HGNC ENSG00000166912 72 0 0 33 21 38.8889 MGA 0 genome.wustl.edu 37 15 42042041 42042041 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 42042041 42042041 A - DEL MGA ENST00000219905 human ensembl 74_37 +1 known frame_shift_del c.6236 p.V2081fs 1.000 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 69 0 0 31 13 29.5455 ZNF106 0 genome.wustl.edu 37 15 42742957 42742957 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 42742957 42742957 A - DEL ZNF106 ENST00000263805 human ensembl 74_37 -1 known frame_shift_del c.1444 p.S482fs 0.139 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 238 0 0 145 55 27.5 ATP8B4 0 genome.wustl.edu 37 15 50264853 50264853 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 50264853 50264853 A - DEL ATP8B4 ENST00000284509 human ensembl 74_37 -1 known frame_shift_del c.1169 p.F390fs 1.000 superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B4 HGNC ENSG00000104043 55 0 0 33 14 29.7872 TIPIN 0 genome.wustl.edu 37 15 66672095 66672095 + RNA DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 66672095 66672095 T - DEL TIPIN ENST00000561773 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors TIPIN HGNC ENSG00000075131 62 0 0 40 9 18.3673 ENSG00000261460 0 genome.wustl.edu 37 15 72638557 72638557 + RNA DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 72638557 72638557 C - DEL ENSG00000261460 ENST00000570175 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-106M3.3 Clone_based_vega_gene ENSG00000261460 36 0 0 14 8 36.3636 STRA6 0 genome.wustl.edu 37 15 74494643 74494643 + RNA DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 74494643 74494643 A - DEL STRA6 ENST00000573456 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors STRA6 HGNC ENSG00000137868 24 0 0 16 7 30.4348 ALPK3 0 genome.wustl.edu 37 15 85400266 85400267 + Frame_Shift_Ins INS - - A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 85400266 85400267 - A INS ALPK3 ENST00000258888 human ensembl 74_37 +1 known frame_shift_ins c.2903_2904 p.P971fs 0.899:0.859 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 186 0 0 105 52 33.121 AGBL1 0 genome.wustl.edu 37 15 86807693 86807693 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 86807693 86807693 A - DEL AGBL1 ENST00000441037 human ensembl 74_37 +1 known frame_shift_del c.1153 p.N387fs 0.000 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 65 0 0 38 22 36.6667 POLG 0 genome.wustl.edu 37 15 89876827 89876828 + In_Frame_Ins INS - - TGC TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 15 89876827 89876828 - TGC INS POLG ENST00000268124 human ensembl 74_37 -1 known in_frame_ins c.159_158 p.56in_frame_insQ 0.004:0.005 pirsf_DNA-dir_DNA_pol_A_mt_sub pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 32 0 0 22 7 24.1379 FOPNL 0 genome.wustl.edu 37 16 15978038 15978038 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 15978038 15978038 T - DEL FOPNL ENST00000255759 human ensembl 74_37 -1 known frame_shift_del c.53 p.K18fs 0.435 NULL pfam_FOP_dimerisation-dom_N,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors FOPNL HGNC ENSG00000133393 71 0 0 27 8 22.8571 TMC5 0 genome.wustl.edu 37 16 19498596 19498596 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 19498596 19498596 T - DEL TMC5 ENST00000396229 human ensembl 74_37 +1 known frame_shift_del c.2521 p.F842fs 1.000 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 87 0 0 48 20 29.4118 PLK1 0 genome.wustl.edu 37 16 23701273 23701275 + In_Frame_Del DEL GGA GGA - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 23701273 23701275 GGA - DEL PLK1 ENST00000300093 human ensembl 74_37 +1 known in_frame_del c.1701_1703 p.E569in_frame_del 0.981:1.000:1.000 pfam_POLO_box_duplicated_dom,pfscan_POLO_box_duplicated_dom pfam_Prot_kinase_dom,pfam_POLO_box_duplicated_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_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK1 HGNC ENSG00000166851 157 0 0 87 34 28.0992 ATXN2L 0 genome.wustl.edu 37 16 28848083 28848083 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 28848083 28848083 C - DEL ATXN2L ENST00000325215 human ensembl 74_37 +1 known frame_shift_del c.3151 p.E1054fs 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 107 0 0 61 16 20.7792 ZNF747 0 genome.wustl.edu 37 16 30544295 30544295 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 30544295 30544295 G - DEL ZNF747 ENST00000535210 human ensembl 74_37 -1 known frame_shift_del c.518 p.P173fs 0.155 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF747 HGNC ENSG00000169955 23 0 0 13 11 45.8333 FBRS 0 genome.wustl.edu 37 16 30676232 30676232 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 30676232 30676232 C - DEL FBRS ENST00000356166 human ensembl 74_37 +1 known frame_shift_del c.1554 p.H520fs 1.000 NULL prints_AUTS2 - no_errors FBRS HGNC ENSG00000156860 19 0 0 14 4 22.2222 SALL1 0 genome.wustl.edu 37 16 51175644 51175646 + In_Frame_Del DEL GCC GCC - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 51175644 51175646 GCC - DEL SALL1 ENST00000251020 human ensembl 74_37 -1 known in_frame_del c.489_487 p.G163in_frame_del 0.994:0.989:0.878 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 33 0 0 45 17 27.4194 IRX6 0 genome.wustl.edu 37 16 55362673 55362674 + In_Frame_Ins INS - - GAG TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 55362673 55362674 - GAG INS IRX6 ENST00000290552 human ensembl 74_37 +1 known in_frame_ins c.783_784 p.265in_frame_insE 0.908:0.987 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 103 0 0 68 17 20 FHOD1 0 genome.wustl.edu 37 16 67267852 67267852 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 67267852 67267852 G - DEL FHOD1 ENST00000258201 human ensembl 74_37 -1 known frame_shift_del c.1754 p.P585fs 1.000 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD1 HGNC ENSG00000135723 18 0 0 15 9 37.5 MTSS1L 0 genome.wustl.edu 37 16 70698147 70698147 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 70698147 70698147 G - DEL MTSS1L ENST00000338779 human ensembl 74_37 -1 known frame_shift_del c.1677 p.G560fs 0.001 NULL pfam_IRSp53/MIM_homology_IMD - no_errors MTSS1L HGNC ENSG00000132613 29 0 0 20 10 33.3333 CFDP1 0 genome.wustl.edu 37 16 75327732 75327732 + RNA DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 75327732 75327732 A - DEL CFDP1 ENST00000570103 human ensembl 74_37 -1 known rna NULL NULL 0.940 - - - no_errors CFDP1 HGNC ENSG00000153774 9 0 0 3 6 66.6667 TAF1C 0 genome.wustl.edu 37 16 84213037 84213037 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 84213037 84213037 G - DEL TAF1C ENST00000378541 human ensembl 74_37 -1 known frame_shift_del c.2120 p.P707fs 0.942 NULL superfamily_WD40_repeat_dom - no_errors TAF1C HGNC ENSG00000103168 78 0 0 40 6 13.0435 ZCCHC14 0 genome.wustl.edu 37 16 87445211 87445211 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 87445211 87445211 T - DEL ZCCHC14 ENST00000268616 human ensembl 74_37 -1 known frame_shift_del c.2705 p.K902fs 1.000 superfamily_Znf_CCHC pfam_SAM_type1,pfam_Znf_CCHC,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC14 HGNC ENSG00000140948 132 0 0 91 35 27.7778 ZC3H18 0 genome.wustl.edu 37 16 88691141 88691141 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 16 88691141 88691141 C - DEL ZC3H18 ENST00000301011 human ensembl 74_37 +1 known frame_shift_del c.2030 p.R680fs 0.568 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 40 0 0 25 6 19.3548 C17orf76-AS1 0 genome.wustl.edu 37 17 16344524 16344525 + RNA DEL AA AA - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 16344524 16344525 AA - DEL C17orf76-AS1 ENST00000460249 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors C17orf76-AS1 HGNC ENSG00000175061 53 0 0 27 20 42.5532 SMG6 0 genome.wustl.edu 37 17 1964760 1964760 + RNA DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 1964760 1964760 G - DEL SMG6 ENST00000570756 human ensembl 74_37 -1 known rna NULL NULL 0.027 - - - no_errors SMG6 HGNC ENSG00000070366 13 0 0 3 4 57.1429 SPECC1 0 genome.wustl.edu 37 17 20108263 20108263 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 20108263 20108263 A - DEL SPECC1 ENST00000261503 human ensembl 74_37 +1 known frame_shift_del c.901 p.N303fs 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 135 0 0 93 35 27.3438 MYO18A 0 genome.wustl.edu 37 17 27493332 27493332 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 27493332 27493332 G - DEL MYO18A ENST00000354329 human ensembl 74_37 -1 known frame_shift_del c.627 p.V210fs 0.000 superfamily_PDZ pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 112 0 0 53 38 41.7582 KRT23 0 genome.wustl.edu 37 17 39092736 39092737 + Frame_Shift_Ins INS - - C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 39092736 39092737 - C INS KRT23 ENST00000209718 human ensembl 74_37 -1 known frame_shift_ins c.120_119 p.A41fs 0.000:0.968 NULL pfam_IF,prints_Keratin_I - no_errors KRT23 HGNC ENSG00000108244 75 0 0 61 23 27.381 KRTAP9-8 0 genome.wustl.edu 37 17 39394461 39394461 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 39394461 39394461 A - DEL KRTAP9-8 ENST00000254072 human ensembl 74_37 +1 known frame_shift_del c.158 p.N54fs 0.000 NULL NULL - no_errors KRTAP9-8 HGNC ENSG00000187272 126 0 0 63 24 27.5862 FKBP10 0 genome.wustl.edu 37 17 39969301 39969301 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 39969301 39969301 C - DEL FKBP10 ENST00000321562 human ensembl 74_37 +1 known frame_shift_del c.15 p.S8fs 0.000 NULL pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 52 0 0 19 7 26.9231 WNK4 0 genome.wustl.edu 37 17 40939870 40939870 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 40939870 40939870 G - DEL WNK4 ENST00000246914 human ensembl 74_37 +1 known frame_shift_del c.1816 p.V608fs 0.004 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 102 0 0 56 27 32.5301 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 56435161 56435161 C - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.1976 p.G659fs 0.900 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 186 0 0 65 88 57.5163 TP53 0 genome.wustl.edu 37 17 7578475 7578475 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 7578475 7578475 G - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.455 p.P152fs 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 107 0 0 55 20 26.6667 TP53 0 genome.wustl.edu 37 17 7579471 7579471 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 7579471 7579471 G - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.216 p.V73fs 0.001 NULL 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 201 1 0.49505 125 34 21.3836 NOTUM 0 genome.wustl.edu 37 17 79914942 79914942 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 79914942 79914942 C - DEL NOTUM ENST00000409678 human ensembl 74_37 -1 known frame_shift_del c.704 p.G235fs 1.000 pfam_NOTUM pfam_NOTUM - no_errors NOTUM HGNC ENSG00000185269 49 0 0 33 14 29.7872 TBCD 0 genome.wustl.edu 37 17 80721910 80721911 + Frame_Shift_Ins INS - - T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 17 80721910 80721911 - T INS TBCD ENST00000355528 human ensembl 74_37 +1 known frame_shift_ins c.305_306 p.K104fs 1.000:1.000 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 43 0 0 11 13 54.1667 ANKRD20A5P 0 genome.wustl.edu 37 18 14225639 14225639 + RNA DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 18 14225639 14225639 A - DEL ANKRD20A5P ENST00000577614 human ensembl 74_37 +1 known rna NULL NULL 0.184 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 21 0 0 12 7 36.8421 ROCK1 0 genome.wustl.edu 37 18 18629104 18629105 + Frame_Shift_Ins INS - - A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 18 18629104 18629105 - A INS ROCK1 ENST00000399799 human ensembl 74_37 -1 known frame_shift_ins c.363_362 p.W122fs 1.000:1.000 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,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 117 0 0 51 31 37.8049 CCDC178 0 genome.wustl.edu 37 18 30913143 30913143 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 18 30913143 30913143 T - DEL CCDC178 ENST00000406524 human ensembl 74_37 -1 known frame_shift_del c.874 p.M292fs 0.000 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 50 0 0 26 13 33.3333 LMAN1 0 genome.wustl.edu 37 18 57021814 57021815 + Splice_Site INS - - A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 18 57021814 57021815 - A INS LMAN1 ENST00000251047 human ensembl 74_37 -1 known splice_site_ins c.478-3_478-2 e4-2 1.000:0.648 - - - no_errors LMAN1 HGNC ENSG00000074695 37 0 0 22 8 26.6667 TMX3 0 genome.wustl.edu 37 18 66367694 66367695 + Frame_Shift_Del DEL TA TA - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 18 66367694 66367695 TA - DEL TMX3 ENST00000299608 human ensembl 74_37 -1 known frame_shift_del c.340_339 p.Y113fs 0.998:0.996 pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors TMX3 HGNC ENSG00000166479 160 0 0 66 14 17.5 CBLN2 0 genome.wustl.edu 37 18 70209335 70209335 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 18 70209335 70209335 C - DEL CBLN2 ENST00000269503 human ensembl 74_37 -1 known frame_shift_del c.61 p.A21fs 1.000 NULL pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN2 HGNC ENSG00000141668 18 0 0 10 4 28.5714 ICAM4 0 genome.wustl.edu 37 19 10397719 10397719 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 10397719 10397719 T - DEL ICAM4 ENST00000340992 human ensembl 74_37 +1 known frame_shift_del c.31 p.L13fs 0.004 NULL pfam_ICAM_N - no_errors ICAM4 HGNC ENSG00000105371 17 0 0 12 3 20 KRI1 0 genome.wustl.edu 37 19 10676487 10676488 + Frame_Shift_Ins INS - - C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 10676487 10676488 - C INS KRI1 ENST00000361821 human ensembl 74_37 -1 putative frame_shift_ins c.80_79 p.A27fs 0.000:0.000 NULL pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 18 0 0 7 3 30 MAN2B1 0 genome.wustl.edu 37 19 12759984 12759984 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 12759984 12759984 C - DEL MAN2B1 ENST00000456935 human ensembl 74_37 -1 known frame_shift_del c.2402 p.G801fs 1.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 47 0 0 50 12 19.3548 FBXW9 0 genome.wustl.edu 37 19 12800974 12800974 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 12800974 12800974 C - DEL FBXW9 ENST00000380339 human ensembl 74_37 -1 known frame_shift_del c.924 p.P309fs 0.002 superfamily_WD40_repeat_dom pfam_WD40_repeat,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 FBXW9 HGNC ENSG00000132004 35 0 0 16 8 33.3333 DAZAP1 0 genome.wustl.edu 37 19 1430254 1430254 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 1430254 1430254 C - DEL DAZAP1 ENST00000233078 human ensembl 74_37 +1 known frame_shift_del c.764 p.P257fs 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZAP1 HGNC ENSG00000071626 39 0 0 23 8 25.8065 CPAMD8 0 genome.wustl.edu 37 19 17081703 17081703 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 17081703 17081703 G - DEL CPAMD8 ENST00000443236 human ensembl 74_37 -1 known frame_shift_del c.2352 p.R785fs 0.962 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 36 0 0 40 14 25.9259 ZNF681 0 genome.wustl.edu 37 19 23927980 23927980 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 23927980 23927980 T - DEL ZNF681 ENST00000402377 human ensembl 74_37 -1 known frame_shift_del c.372 p.G125fs 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF681 HGNC ENSG00000196172 55 0 0 25 10 28.5714 KCTD15 0 genome.wustl.edu 37 19 34292140 34292140 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 34292140 34292140 C - DEL KCTD15 ENST00000430256 human ensembl 74_37 +1 known frame_shift_del c.135 p.L47fs 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD15 HGNC ENSG00000153885 92 0 0 53 30 36.1446 MFSD12 0 genome.wustl.edu 37 19 3542859 3542859 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 3542859 3542859 G - DEL MFSD12 ENST00000398558 human ensembl 74_37 -1 known frame_shift_del c.1537 p.L513fs 0.004 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD12 HGNC ENSG00000161091 88 0 0 51 16 23.8806 KMT2B 0 genome.wustl.edu 37 19 36214714 36214714 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 36214714 36214714 G - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.3140 p.A1049fs 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 29 0 0 9 8 47.0588 NCCRP1 0 genome.wustl.edu 37 19 39691081 39691081 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 39691081 39691081 C - DEL NCCRP1 ENST00000339852 human ensembl 74_37 +1 known frame_shift_del c.644 p.R217fs 0.977 pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom - no_errors NCCRP1 HGNC ENSG00000188505 195 0 0 118 47 28.4848 DYRK1B 0 genome.wustl.edu 37 19 40316612 40316612 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 40316612 40316612 G - DEL DYRK1B ENST00000323039 human ensembl 74_37 -1 known frame_shift_del c.1633 p.Q545fs 0.436 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 DYRK1B HGNC ENSG00000105204 96 0 0 56 16 22.2222 FBL 0 genome.wustl.edu 37 19 40325193 40325193 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 40325193 40325193 G - DEL FBL ENST00000221801 human ensembl 74_37 -1 known frame_shift_del c.951 p.K318fs 1.000 NULL pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin - no_errors FBL HGNC ENSG00000105202 185 0 0 108 43 28.4768 SHKBP1 0 genome.wustl.edu 37 19 41082994 41082995 + RNA DEL CC CC - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 41082994 41082995 CC - DEL SHKBP1 ENST00000600552 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors SHKBP1 HGNC ENSG00000160410 16 0 0 7 9 56.25 HNRNPUL1 0 genome.wustl.edu 37 19 41808818 41808818 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 41808818 41808818 G - DEL HNRNPUL1 ENST00000392006 human ensembl 74_37 +1 known frame_shift_del c.1936 p.G647fs 0.979 NULL pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL1 HGNC ENSG00000105323 88 0 0 53 22 29.3333 CIC 0 genome.wustl.edu 37 19 42797376 42797376 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 42797376 42797376 C - DEL CIC ENST00000575354 human ensembl 74_37 +1 known frame_shift_del c.3738 p.P1248fs 0.989 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 12 0 0 4 4 50 MEGF8 0 genome.wustl.edu 37 19 42857626 42857626 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 42857626 42857626 G - DEL MEGF8 ENST00000251268 human ensembl 74_37 +1 known frame_shift_del c.3560 p.E1189fs 0.985 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 25 0 0 15 4 21.0526 UBXN6 0 genome.wustl.edu 37 19 4446878 4446879 + Frame_Shift_Ins INS - - A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 4446878 4446879 - A INS UBXN6 ENST00000301281 human ensembl 74_37 -1 known frame_shift_ins c.655_654 p.E218fs 0.985:0.975 pfam_PUB_domain,smart_PUG-dom pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX - no_errors UBXN6 HGNC ENSG00000167671 67 0 0 27 16 37.2093 ZNF227 0 genome.wustl.edu 37 19 44732508 44732508 + RNA DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 44732508 44732508 T - DEL ZNF227 ENST00000589237 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF227 HGNC ENSG00000131115 17 0 0 12 9 42.8571 BAX 0 genome.wustl.edu 37 19 49458970 49458971 + Frame_Shift_Ins INS - - G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 49458970 49458971 - G INS BAX ENST00000293288 human ensembl 74_37 +1 known frame_shift_ins c.113_114 p.E41fs 0.585:0.588 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAX HGNC ENSG00000087088 110 0 0 55 16 22.5352 CGB7 0 genome.wustl.edu 37 19 49558253 49558254 + In_Frame_Ins INS - - CAG TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 49558253 49558254 - CAG INS CGB7 ENST00000377280 human ensembl 74_37 -1 known in_frame_ins c.28_27 p.13in_frame_insL 0.965:0.996 NULL pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors CGB7 HGNC ENSG00000196337 159 0 0 94 23 19.6581 TRPM4 0 genome.wustl.edu 37 19 49671926 49671926 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 49671926 49671926 G - DEL TRPM4 ENST00000252826 human ensembl 74_37 +1 known frame_shift_del c.729 p.G245fs 0.102 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 19 0 0 17 8 32 TEAD2 0 genome.wustl.edu 37 19 49850473 49850473 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 49850473 49850473 G - DEL TEAD2 ENST00000311227 human ensembl 74_37 -1 known frame_shift_del c.883 p.H295fs 0.961 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 335 1 0.297619 85 111 56.6327 PIH1D1 0 genome.wustl.edu 37 19 49949891 49949891 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 49949891 49949891 G - DEL PIH1D1 ENST00000262265 human ensembl 74_37 -1 known frame_shift_del c.748 p.Q250fs 1.000 pfam_PIH pfam_PIH - no_errors PIH1D1 HGNC ENSG00000104872 181 0 0 80 42 34.4262 SAFB2 0 genome.wustl.edu 37 19 5590298 5590298 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 5590298 5590298 G - DEL SAFB2 ENST00000252542 human ensembl 74_37 -1 known frame_shift_del c.2516 p.P839fs 0.257 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 13 0 0 5 4 44.4444 TRIP10 0 genome.wustl.edu 37 19 6750379 6750380 + Frame_Shift_Ins INS - - C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 19 6750379 6750380 - C INS TRIP10 ENST00000313244 human ensembl 74_37 +1 known frame_shift_ins c.1472_1473 p.A494fs 0.994:0.994 NULL pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors TRIP10 HGNC ENSG00000125733 89 0 0 44 26 37.1429 SLC9A4 0 genome.wustl.edu 37 2 103125345 103125345 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 103125345 103125345 A - DEL SLC9A4 ENST00000295269 human ensembl 74_37 +1 known frame_shift_del c.1441 p.T483fs 1.000 tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 94 0 0 53 14 20.8955 GCC2 0 genome.wustl.edu 37 2 109087884 109087884 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 109087884 109087884 A - DEL GCC2 ENST00000309863 human ensembl 74_37 +1 known frame_shift_del c.2099 p.K702fs 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 244 0 0 117 52 30.7692 TUBA3E 0 genome.wustl.edu 37 2 130949500 130949501 + Frame_Shift_Del DEL AG AG - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 130949500 130949501 AG - DEL TUBA3E ENST00000312988 human ensembl 74_37 -1 known frame_shift_del c.1257_1256 p.S419fs 0.042:0.987 superfamily_Tub_FtsZ_C pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin - no_errors TUBA3E HGNC ENSG00000152086 297 0 0 146 71 32.7189 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 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_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 149 0 0 35 58 62.3656 RIF1 0 genome.wustl.edu 37 2 152318968 152318970 + In_Frame_Del DEL GAT GAT - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 GAT GAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 152318968 152318970 GAT - DEL RIF1 ENST00000243326 human ensembl 74_37 +1 known in_frame_del c.3351_3353 p.M1119in_frame_del 0.010:0.000:0.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 110 0 0 40 17 29.8246 PKP4 0 genome.wustl.edu 37 2 159481627 159481628 + Frame_Shift_Ins INS - - C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 159481627 159481628 - C INS PKP4 ENST00000389759 human ensembl 74_37 +1 known frame_shift_ins c.841_842 p.T283fs 1.000:1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 52 0 0 29 9 23.6842 TANK 0 genome.wustl.edu 37 2 162091980 162091980 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 162091980 162091980 G - DEL TANK ENST00000259075 human ensembl 74_37 +1 known frame_shift_del c.1229 p.D412fs 1.000 NULL NULL - no_errors TANK HGNC ENSG00000136560 142 0 0 83 30 26.5487 FIGN 0 genome.wustl.edu 37 2 164467543 164467543 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 164467543 164467543 C - DEL FIGN ENST00000333129 human ensembl 74_37 -1 known frame_shift_del c.799 p.A267fs 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 100 0 0 39 13 25 SCN9A 0 genome.wustl.edu 37 2 167141203 167141203 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 167141203 167141203 A - DEL SCN9A ENST00000303354 human ensembl 74_37 -1 known frame_shift_del c.1737 p.F579fs 0.819 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 93 0 0 54 26 32.5 DHRS9 0 genome.wustl.edu 37 2 169948389 169948389 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 169948389 169948389 A - DEL DHRS9 ENST00000432060 human ensembl 74_37 +1 known frame_shift_del c.842 p.K283fs 0.158 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC ENSG00000073737 62 0 0 34 18 34.6154 FASTKD1 0 genome.wustl.edu 37 2 170428529 170428530 + Frame_Shift_Ins INS - - T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 170428529 170428530 - T INS FASTKD1 ENST00000453153 human ensembl 74_37 -1 known frame_shift_ins c.11_10 p.T4fs 0.000:0.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC ENSG00000138399 52 0 0 27 10 27.027 MYO3B 0 genome.wustl.edu 37 2 171240258 171240259 + Frame_Shift_Ins INS - - C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 171240258 171240259 - C INS MYO3B ENST00000334231 human ensembl 74_37 +1 known frame_shift_ins c.1251_1252 p.H419fs 1.000:1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 99 0 0 46 21 31.3433 RBM45 0 genome.wustl.edu 37 2 178988920 178988920 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 178988920 178988920 A - DEL RBM45 ENST00000286070 human ensembl 74_37 +1 known frame_shift_del c.1135 p.A382fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM45 HGNC ENSG00000155636 92 0 0 63 18 22.2222 DNAJC10 0 genome.wustl.edu 37 2 183606066 183606066 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 183606066 183606066 A - DEL DNAJC10 ENST00000264065 human ensembl 74_37 +1 known frame_shift_del c.1174 p.N393fs 1.000 superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C pfam_Thioredoxin_domain,pfam_DnaJ_domain,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_domain,smart_DnaJ_domain,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_domain,prints_DnaJ_domain,prints_Thioredoxin - no_errors DNAJC10 HGNC ENSG00000077232 28 0 0 9 7 43.75 FSIP2 0 genome.wustl.edu 37 2 186678350 186678350 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 186678350 186678350 A - DEL FSIP2 ENST00000343098 human ensembl 74_37 +1 known frame_shift_del c.20173 p.N6726fs 0.247 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 35 0 0 16 5 23.8095 SGOL2 0 genome.wustl.edu 37 2 201436289 201436289 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 201436289 201436289 A - DEL SGOL2 ENST00000357799 human ensembl 74_37 +1 known frame_shift_del c.1220 p.K409fs 0.134 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 70 0 0 44 14 24.1379 CRYGA 0 genome.wustl.edu 37 2 209025577 209025577 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 209025577 209025577 C - DEL CRYGA ENST00000304502 human ensembl 74_37 -1 known frame_shift_del c.476 p.G159fs 0.651 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC ENSG00000168582 192 1 0.518135 95 33 25.7812 SLC4A3 0 genome.wustl.edu 37 2 220492742 220492742 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 220492742 220492742 G - DEL SLC4A3 ENST00000273063 human ensembl 74_37 +1 known frame_shift_del c.28 p.G11fs 1.000 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 17 0 0 5 4 44.4444 IRS1 0 genome.wustl.edu 37 2 227662352 227662352 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 227662352 227662352 G - DEL IRS1 ENST00000305123 human ensembl 74_37 -1 known frame_shift_del c.1103 p.P368fs 0.978 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 123 0 0 57 28 32.9412 EFHD1 0 genome.wustl.edu 37 2 233527580 233527580 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 233527580 233527580 C - DEL EFHD1 ENST00000264059 human ensembl 74_37 +1 known frame_shift_del c.371 p.Q126fs 1.000 pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFHD1 HGNC ENSG00000115468 68 0 0 48 13 21.3115 SRBD1 0 genome.wustl.edu 37 2 45826750 45826751 + Frame_Shift_Ins INS - - C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 45826750 45826751 - C INS SRBD1 ENST00000263736 human ensembl 74_37 -1 known frame_shift_ins c.486_485 p.G163fs 0.017:0.015 NULL pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC ENSG00000068784 278 0 0 169 59 25.8772 MSH6 0 genome.wustl.edu 37 2 48030639 48030640 + Frame_Shift_Ins INS - - C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 48030639 48030640 - C INS MSH6 ENST00000234420 human ensembl 74_37 +1 known frame_shift_ins c.3253_3254 p.F1088fs 0.001:0.003 pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 68 0 0 31 16 34.0426 PSME4 0 genome.wustl.edu 37 2 54093345 54093345 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 54093345 54093345 T - DEL PSME4 ENST00000404125 human ensembl 74_37 -1 known frame_shift_del c.5413 p.T1805fs 1.000 pfam_DUF3437,superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 164 0 0 107 11 9.32203 SMEK2 0 genome.wustl.edu 37 2 55808823 55808825 + In_Frame_Del DEL AAG AAG - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 55808823 55808825 AAG - DEL SMEK2 ENST00000272313 human ensembl 74_37 -1 known in_frame_del c.1245_1243 p.L415in_frame_del 0.988:1.000:1.000 superfamily_ARM-type_fold pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK2 HGNC ENSG00000138041 72 0 0 50 15 23.0769 C2orf42 0 genome.wustl.edu 37 2 70392682 70392682 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 70392682 70392682 T - DEL C2orf42 ENST00000264434 human ensembl 74_37 -1 known frame_shift_del c.1230 p.K410fs 1.000 NULL NULL - no_errors C2orf42 HGNC ENSG00000115998 65 0 0 45 19 29.6875 LRRTM1 0 genome.wustl.edu 37 2 80530804 80530804 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 80530804 80530804 C - DEL LRRTM1 ENST00000295057 human ensembl 74_37 -1 known frame_shift_del c.141 p.R48fs 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 45 0 0 33 13 28.2609 CTNNA2 0 genome.wustl.edu 37 2 80816547 80816549 + In_Frame_Del DEL ATG ATG - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 ATG ATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 80816547 80816549 ATG - DEL CTNNA2 ENST00000361291 human ensembl 74_37 +1 known in_frame_del c.2228_2230 p.D744in_frame_del 1.000:1.000:1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 117 0 0 64 20 23.8095 SUCLG1 0 genome.wustl.edu 37 2 84650857 84650857 + RNA DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 2 84650857 84650857 T - DEL SUCLG1 ENST00000491123 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SUCLG1 HGNC ENSG00000163541 21 0 0 13 2 13.3333 SIRPB1 0 genome.wustl.edu 37 20 1584702 1584702 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 1584702 1584702 G - DEL SIRPB1 ENST00000279477 human ensembl 74_37 -1 known frame_shift_del c.838 p.Q280fs 0.023 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPB1 HGNC ENSG00000101307 77 0 0 26 15 36.5854 RIN2 0 genome.wustl.edu 37 20 19981452 19981453 + Frame_Shift_Ins INS - - A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 19981452 19981453 - A INS RIN2 ENST00000255006 human ensembl 74_37 +1 known frame_shift_ins c.2707_2708 p.I905fs 1.000:1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN2 HGNC ENSG00000132669 61 0 0 35 16 31.3725 CD93 0 genome.wustl.edu 37 20 23065992 23065992 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 23065992 23065992 C - DEL CD93 ENST00000246006 human ensembl 74_37 -1 known frame_shift_del c.838 p.D280fs 0.033 pirsf_CD93/CD141,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 225 1 0.442478 141 38 21.2291 GDF5 0 genome.wustl.edu 37 20 34025211 34025211 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 34025211 34025211 G - DEL GDF5 ENST00000374369 human ensembl 74_37 -1 known frame_shift_del c.498 p.I167fs 0.997 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 127 0 0 90 31 25.6198 DDX27 0 genome.wustl.edu 37 20 47858504 47858504 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 47858504 47858504 A - DEL DDX27 ENST00000371764 human ensembl 74_37 +1 known frame_shift_del c.2065 p.K691fs 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX27 HGNC ENSG00000124228 104 1 0.952381 68 42 38.1818 FAM65C 0 genome.wustl.edu 37 20 49203727 49203727 + RNA DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 49203727 49203727 A - DEL FAM65C ENST00000462842 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors FAM65C HGNC ENSG00000042062 26 0 0 18 4 18.1818 C20orf195 0 genome.wustl.edu 37 20 62187213 62187213 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 62187213 62187213 C - DEL C20orf195 ENST00000370097 human ensembl 74_37 +1 known frame_shift_del c.197 p.R67fs 0.780 NULL superfamily_Fibronectin_type3 - no_errors C20orf195 HGNC ENSG00000125531 67 0 0 26 13 33.3333 PLCB4 0 genome.wustl.edu 37 20 9352960 9352960 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 20 9352960 9352960 T - DEL PLCB4 ENST00000334005 human ensembl 74_37 +1 known frame_shift_del c.596 p.I199fs 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 92 0 0 38 14 26.9231 CBS 0 genome.wustl.edu 37 21 44492285 44492285 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 21 44492285 44492285 G - DEL CBS ENST00000398168 human ensembl 74_37 -1 known frame_shift_del c.19 p.Q7fs 0.000 NULL pfam_Trp_syn_b_sub_like_PLP_eny_SF,pfam_CBS_dom,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_CBS_dom,tigrfam_Cysta_beta_synth - no_errors CBS HGNC ENSG00000160200 23 0 0 5 4 44.4444 ANKRD62P1-PARP4P3 0 genome.wustl.edu 37 22 17140437 17140438 + RNA INS - - T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 22 17140437 17140438 - T INS ANKRD62P1-PARP4P3 ENST00000456726 human ensembl 74_37 -1 known rna NULL NULL 0.053:0.042 - - - no_errors ANKRD62P1-PARP4P3 HGNC ENSG00000189295 52 0 0 26 9 25.7143 GNAZ 0 genome.wustl.edu 37 22 23438488 23438488 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 22 23438488 23438488 G - DEL GNAZ ENST00000248996 human ensembl 74_37 +1 known frame_shift_del c.606 p.Q205fs 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAZ HGNC ENSG00000128266 207 0 0 104 53 33.758 SMARCB1 0 genome.wustl.edu 37 22 24175857 24175859 + In_Frame_Del DEL AGA AGA - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 22 24175857 24175859 AGA - DEL SMARCB1 ENST00000263121 human ensembl 74_37 +1 known in_frame_del c.1085_1087 p.K364in_frame_del 1.000:1.000:1.000 pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC ENSG00000099956 130 0 0 84 26 23.6364 LIF 0 genome.wustl.edu 37 22 30640813 30640815 + In_Frame_Del DEL GTT GTT - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 GTT GTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 22 30640813 30640815 GTT - DEL LIF ENST00000249075 human ensembl 74_37 -1 known in_frame_del c.129_127 p.N43in_frame_del 1.000:1.000:1.000 pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin,prints_Leukemia_IF pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin,prints_Leukemia_IF - no_errors LIF HGNC ENSG00000128342 63 0 0 46 17 26.9841 SMTN 0 genome.wustl.edu 37 22 31485922 31485922 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 22 31485922 31485922 C - DEL SMTN ENST00000347557 human ensembl 74_37 +1 known frame_shift_del c.709 p.S239fs 0.420 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 11 0 0 11 4 26.6667 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 114058003 114058003 G - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2075 p.P692fs 0.678 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 78 0 0 76 20 20.8333 CD86 0 genome.wustl.edu 37 3 121828213 121828213 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 121828213 121828213 A - DEL CD86 ENST00000330540 human ensembl 74_37 +1 known frame_shift_del c.805 p.K269fs 0.015 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD86 HGNC ENSG00000114013 206 0 0 135 43 24.1573 AMOTL2 0 genome.wustl.edu 37 3 134086562 134086562 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 134086562 134086562 G - DEL AMOTL2 ENST00000249883 human ensembl 74_37 -1 known frame_shift_del c.818 p.P273fs 0.006 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 56 0 0 51 10 16.3934 PPP2R3A 0 genome.wustl.edu 37 3 135721069 135721069 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 135721069 135721069 A - DEL PPP2R3A ENST00000264977 human ensembl 74_37 +1 known frame_shift_del c.729 p.K245fs 1.000 NULL pfscan_EF_hand_dom - no_errors PPP2R3A HGNC ENSG00000073711 60 0 0 45 12 21.0526 MRPS22 0 genome.wustl.edu 37 3 139067040 139067040 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 139067040 139067040 A - DEL MRPS22 ENST00000310776 human ensembl 74_37 +1 known frame_shift_del c.378 p.M128fs 0.996 pfam_Ribosomal_S22_mit pfam_Ribosomal_S22_mit - no_errors MRPS22 HGNC ENSG00000175110 68 0 0 54 19 26.0274 U2SURP 0 genome.wustl.edu 37 3 142773947 142773948 + Frame_Shift_Ins INS - - A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 142773947 142773948 - A INS U2SURP ENST00000473835 human ensembl 74_37 +1 known frame_shift_ins c.2937_2938 p.A981fs 1.000:1.000 NULL pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_CID_dom,pfscan_Surp,pfscan_RRM_dom - no_errors U2SURP HGNC ENSG00000163714 15 0 0 15 6 28.5714 DHX36 0 genome.wustl.edu 37 3 154032978 154032978 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 154032978 154032978 T - DEL DHX36 ENST00000496811 human ensembl 74_37 -1 known frame_shift_del c.460 p.M154fs 0.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 63 0 0 45 7 13.4615 PLCH1 0 genome.wustl.edu 37 3 155212244 155212245 + Frame_Shift_Ins INS - - T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 155212244 155212245 - T INS PLCH1 ENST00000340059 human ensembl 74_37 -1 known frame_shift_ins c.1921_1920 p.S640fs 0.993:0.991 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 89 0 0 77 21 21.4286 SHOX2 0 genome.wustl.edu 37 3 157823897 157823897 + RNA DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 157823897 157823897 C - DEL SHOX2 ENST00000554685 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SHOX2 HGNC ENSG00000168779 17 0 0 18 3 14.2857 RSRC1 0 genome.wustl.edu 37 3 158254981 158254982 + Frame_Shift_Ins INS - - A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 158254981 158254982 - A INS RSRC1 ENST00000295930 human ensembl 74_37 +1 known frame_shift_ins c.753_754 p.S253fs 1.000:1.000 NULL NULL - no_errors RSRC1 HGNC ENSG00000174891 59 0 0 33 6 15.3846 DGKG 0 genome.wustl.edu 37 3 185978239 185978239 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 185978239 185978239 C - DEL DGKG ENST00000265022 human ensembl 74_37 -1 known frame_shift_del c.1413 p.P472fs 0.487 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKG HGNC ENSG00000058866 43 0 0 29 4 12.1212 SGOL1 0 genome.wustl.edu 37 3 20212755 20212755 + RNA DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 20212755 20212755 A - DEL SGOL1 ENST00000460637 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors SGOL1 HGNC ENSG00000129810 27 0 0 17 7 29.1667 HMGB1P5 0 genome.wustl.edu 37 3 22423968 22423968 + RNA DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 22423968 22423968 T - DEL HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 50 0 0 22 7 24.1379 LRRC3B 0 genome.wustl.edu 37 3 26751452 26751452 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 26751452 26751452 A - DEL LRRC3B ENST00000396641 human ensembl 74_37 +1 known frame_shift_del c.289 p.N98fs 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC3B HGNC ENSG00000179796 69 0 0 29 19 39.5833 ARPP21 0 genome.wustl.edu 37 3 35833708 35833708 + RNA DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 35833708 35833708 A - DEL ARPP21 ENST00000476052 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ARPP21 HGNC ENSG00000172995 21 0 0 12 13 52 ZBTB47 0 genome.wustl.edu 37 3 42700957 42700957 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 42700957 42700957 C - DEL ZBTB47 ENST00000232974 human ensembl 74_37 +1 known frame_shift_del c.1110 p.P372fs 0.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB47 HGNC ENSG00000114853 17 0 0 7 2 22.2222 CYP8B1 0 genome.wustl.edu 37 3 42916994 42916994 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 42916994 42916994 T - DEL CYP8B1 ENST00000316161 human ensembl 74_37 -1 known frame_shift_del c.315 p.K105fs 0.004 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP8B1 HGNC ENSG00000180432 87 0 0 53 23 30.2632 CCR3 0 genome.wustl.edu 37 3 46307343 46307343 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 46307343 46307343 A - DEL CCR3 ENST00000545097 human ensembl 74_37 +1 known frame_shift_del c.757 p.K255fs 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR3,prints_Chemokine_CCR1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1 - no_errors CCR3 HGNC ENSG00000183625 84 0 0 45 19 29.6875 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 65 0 0 37 8 17.7778 CACNA2D3 0 genome.wustl.edu 37 3 54596940 54596940 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 54596940 54596940 T - DEL CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known frame_shift_del c.658 p.F221fs 1.000 pfam_VWA_N pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 34 0 0 26 11 29.7297 FLNB 0 genome.wustl.edu 37 3 58089787 58089788 + Frame_Shift_Ins INS - - G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 58089787 58089788 - G INS FLNB ENST00000295956 human ensembl 74_37 +1 known frame_shift_ins c.1585_1586 p.H532fs 1.000:1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 114 0 0 53 12 18.4615 SETD5 0 genome.wustl.edu 37 3 9517703 9517704 + Frame_Shift_Ins INS - - G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 3 9517703 9517704 - G INS SETD5 ENST00000402198 human ensembl 74_37 +1 known frame_shift_ins c.4257_4258 p.V1421fs 0.999:1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 41 0 0 38 8 17.3913 CFI 0 genome.wustl.edu 37 4 110687927 110687927 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 110687927 110687927 T - DEL CFI ENST00000394634 human ensembl 74_37 -1 known frame_shift_del c.111 p.K37fs 0.482 NULL pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors CFI HGNC ENSG00000205403 83 0 0 39 18 31.5789 ARSJ 0 genome.wustl.edu 37 4 114823494 114823494 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 114823494 114823494 T - DEL ARSJ ENST00000315366 human ensembl 74_37 -1 known frame_shift_del c.1736 p.K579fs 0.628 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 34 0 0 21 12 36.3636 PRDM5 0 genome.wustl.edu 37 4 121738028 121738028 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 121738028 121738028 A - DEL PRDM5 ENST00000264808 human ensembl 74_37 -1 known frame_shift_del c.702 p.Q235fs 0.682 smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM5 HGNC ENSG00000138738 330 0 0 130 55 29.7297 EXOSC9 0 genome.wustl.edu 37 4 122723894 122723894 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 122723894 122723894 T - DEL EXOSC9 ENST00000379663 human ensembl 74_37 +1 known frame_shift_del c.227 p.F78fs 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC9 HGNC ENSG00000123737 123 0 0 74 28 27.451 CPEB2 0 genome.wustl.edu 37 4 15067858 15067858 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 15067858 15067858 T - DEL CPEB2 ENST00000538197 human ensembl 74_37 +1 known frame_shift_del c.2959 p.C989fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 148 1 0.671141 83 18 17.8218 FBXW7 0 genome.wustl.edu 37 4 153273636 153273636 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 153273636 153273636 T - DEL FBXW7 ENST00000263981 human ensembl 74_37 -1 known frame_shift_del c.247 p.M83fs 1.000 NULL pfam_WD40_repeat,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 FBXW7 HGNC ENSG00000109670 54 0 0 27 17 38.6364 SNX25 0 genome.wustl.edu 37 4 186272695 186272695 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 186272695 186272695 A - DEL SNX25 ENST00000264694 human ensembl 74_37 +1 known frame_shift_del c.1906 p.N638fs 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX25 HGNC ENSG00000109762 84 0 0 56 31 35.6322 RBPJ 0 genome.wustl.edu 37 4 26426086 26426086 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 26426086 26426086 T - DEL RBPJ ENST00000342295 human ensembl 74_37 +1 known frame_shift_del c.658 p.F221fs 1.000 pfam_Beta-trefoil_DNA-bd_dom,superfamily_Beta-trefoil_DNA-bd_dom pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,pfam_IPT,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJ HGNC ENSG00000168214 114 0 0 72 36 33.3333 PDS5A 0 genome.wustl.edu 37 4 39915250 39915251 + Frame_Shift_Del DEL AA AA - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 39915250 39915251 AA - DEL PDS5A ENST00000303538 human ensembl 74_37 -1 known frame_shift_del c.973_972 p.W325fs 1.000:1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 93 0 0 44 18 29.0323 CORIN 0 genome.wustl.edu 37 4 47647195 47647196 + Frame_Shift_Ins INS - - TC TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 47647195 47647196 - TC INS CORIN ENST00000273857 human ensembl 74_37 -1 known frame_shift_ins c.1860_1859 p.D620fs 0.996:1.000 pirsf_Peptidase_S1A_corin,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors CORIN HGNC ENSG00000145244 139 0 0 71 35 33.0189 EPHA5 0 genome.wustl.edu 37 4 66467928 66467928 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 66467928 66467928 A - DEL EPHA5 ENST00000273854 human ensembl 74_37 -1 known frame_shift_del c.341 p.L114fs 1.000 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 148 0 0 60 23 27.7108 EPHA5 0 genome.wustl.edu 37 4 66509085 66509085 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 66509085 66509085 T - DEL EPHA5 ENST00000273854 human ensembl 74_37 -1 known frame_shift_del c.242 p.N81fs 1.000 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 82 0 0 41 21 33.871 SLC4A4 0 genome.wustl.edu 37 4 72205146 72205146 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 72205146 72205146 C - DEL SLC4A4 ENST00000425175 human ensembl 74_37 +1 known frame_shift_del c.313 p.P106fs 1.000 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 152 0 0 132 39 22.807 HERC3 0 genome.wustl.edu 37 4 89628027 89628029 + In_Frame_Del DEL CCT CCT - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 4 89628027 89628029 CCT - DEL HERC3 ENST00000264345 human ensembl 74_37 +1 known in_frame_del c.3069_3071 p.L1024in_frame_del 1.000:1.000:1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC3 HGNC ENSG00000138641 98 0 0 60 21 25.9259 RAPGEF6 0 genome.wustl.edu 37 5 130799880 130799880 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 130799880 130799880 A - DEL RAPGEF6 ENST00000509018 human ensembl 74_37 -1 known frame_shift_del c.2334 p.H779fs 0.911 pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-assoc,pfscan_Ras-assoc pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 62 0 0 18 17 48.5714 SLC22A5 0 genome.wustl.edu 37 5 131722731 131722731 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 131722731 131722731 C - DEL SLC22A5 ENST00000435065 human ensembl 74_37 +1 known frame_shift_del c.911 p.R306fs 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A5 HGNC ENSG00000197375 285 0 0 157 71 31.1404 TCF7 0 genome.wustl.edu 37 5 133479285 133479287 + In_Frame_Del DEL GAA GAA - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 133479285 133479287 GAA - DEL TCF7 ENST00000321584 human ensembl 74_37 +1 known in_frame_del c.1029_1031 p.K346in_frame_del 0.993:1.000:1.000 NULL pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7 HGNC ENSG00000081059 61 0 0 29 12 29.2683 WDR55 0 genome.wustl.edu 37 5 140049102 140049102 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 140049102 140049102 A - DEL WDR55 ENST00000358337 human ensembl 74_37 +1 known frame_shift_del c.1015 p.K341fs 1.000 pirsf_WD_repeat_p55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR55 HGNC ENSG00000120314 44 0 0 32 9 21.9512 RELL2 0 genome.wustl.edu 37 5 141019218 141019219 + Splice_Site INS - - G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 141019218 141019219 - G INS RELL2 ENST00000297164 human ensembl 74_37 +1 known splice_site_ins c.503+2_503+1 e4+2 1.000:0.964 - - - no_errors RELL2 HGNC ENSG00000164620 37 0 0 33 4 10.8108 TRIO 0 genome.wustl.edu 37 5 14477004 14477004 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 14477004 14477004 T - DEL TRIO ENST00000344204 human ensembl 74_37 +1 known frame_shift_del c.6085 p.L2031fs 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 40 0 0 18 9 33.3333 SPINK5 0 genome.wustl.edu 37 5 147499875 147499875 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 147499875 147499875 A - DEL SPINK5 ENST00000359874 human ensembl 74_37 +1 known frame_shift_del c.2459 p.K823fs 0.998 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 19 0 0 7 14 66.6667 TTC1 0 genome.wustl.edu 37 5 159437837 159437837 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 159437837 159437837 A - DEL TTC1 ENST00000231238 human ensembl 74_37 +1 known frame_shift_del c.302 p.N103fs 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC1 HGNC ENSG00000113312 66 0 0 30 10 25 MYO10 0 genome.wustl.edu 37 5 16694605 16694606 + Frame_Shift_Ins INS - - C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 16694605 16694606 - C INS MYO10 ENST00000513610 human ensembl 74_37 -1 known frame_shift_ins c.3675_3674 p.S1226fs 1.000:1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 157 0 0 105 30 22.2222 RNF44 0 genome.wustl.edu 37 5 175957911 175957911 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 175957911 175957911 G - DEL RNF44 ENST00000274811 human ensembl 74_37 -1 known frame_shift_del c.577 p.Q193fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF44 HGNC ENSG00000146083 14 0 0 6 7 53.8462 FAM193B 0 genome.wustl.edu 37 5 176966140 176966140 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 176966140 176966140 G - DEL FAM193B ENST00000514747 human ensembl 74_37 -1 novel frame_shift_del c.219 p.A74fs 0.001 NULL NULL - no_errors FAM193B HGNC ENSG00000146067 9 0 0 5 3 37.5 ZNF354A 0 genome.wustl.edu 37 5 178140325 178140326 + Frame_Shift_Ins INS - - T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 178140325 178140326 - T INS ZNF354A ENST00000335815 human ensembl 74_37 -1 known frame_shift_ins c.554_553 p.T185fs 0.041:0.049 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 ZNF354A HGNC ENSG00000169131 247 0 0 130 48 26.9663 NIPBL 0 genome.wustl.edu 37 5 37064899 37064899 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 37064899 37064899 A - DEL NIPBL ENST00000282516 human ensembl 74_37 +1 known frame_shift_del c.8320 p.I2776fs 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 60 0 0 25 24 48.9796 ZNF131 0 genome.wustl.edu 37 5 43173517 43173517 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 43173517 43173517 A - DEL ZNF131 ENST00000399534 human ensembl 74_37 +1 known frame_shift_del c.1152 p.G387fs 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF131 HGNC ENSG00000172262 47 0 0 22 11 33.3333 ADAMTS6 0 genome.wustl.edu 37 5 64766683 64766684 + Frame_Shift_Ins INS - - A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 64766683 64766684 - A INS ADAMTS6 ENST00000381055 human ensembl 74_37 -1 known frame_shift_ins c.384_383 p.L128fs 1.000:1.000 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 47 0 0 42 12 22.2222 BDP1 0 genome.wustl.edu 37 5 70766233 70766233 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 70766233 70766233 T - DEL BDP1 ENST00000358731 human ensembl 74_37 +1 known frame_shift_del c.931 p.L313fs 1.000 superfamily_Homeodomain-like,smart_SANT/Myb superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 42 0 0 33 7 17.5 AP3B1 0 genome.wustl.edu 37 5 77334907 77334907 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 77334907 77334907 T - DEL AP3B1 ENST00000255194 human ensembl 74_37 -1 known frame_shift_del c.2769 p.K923fs 0.419 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 47 0 0 45 6 11.7647 FAM151B 0 genome.wustl.edu 37 5 79815642 79815642 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 79815642 79815642 T - DEL FAM151B ENST00000282226 human ensembl 74_37 +1 known frame_shift_del c.448 p.L151fs 0.996 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151B HGNC ENSG00000152380 118 0 0 55 29 34.5238 MSH3 0 genome.wustl.edu 37 5 79970915 79970916 + Frame_Shift_Del DEL AA AA - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 79970915 79970916 AA - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known frame_shift_del c.1141_1142 p.K383fs 0.982:0.892 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom 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 200 0 0 111 37 25 LYSMD3 0 genome.wustl.edu 37 5 89814637 89814638 + Frame_Shift_Del DEL TA TA - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 5 89814637 89814638 TA - DEL LYSMD3 ENST00000315948 human ensembl 74_37 -1 known frame_shift_del c.920_919 p.*307fs 0.955:0.931 NULL pfam_LysM_dom,smart_LysM_dom - no_errors LYSMD3 HGNC ENSG00000176018 154 0 0 60 28 31.8182 GCNT2 0 genome.wustl.edu 37 6 10557410 10557410 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 10557410 10557410 C - DEL GCNT2 ENST00000316170 human ensembl 74_37 +1 known frame_shift_del c.754 p.H254fs 1.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT2 HGNC ENSG00000111846 100 0 0 42 25 37.3134 KIAA1919 0 genome.wustl.edu 37 6 111587361 111587361 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 111587361 111587361 T - DEL KIAA1919 ENST00000368847 human ensembl 74_37 +1 known frame_shift_del c.596 p.C202fs 0.469 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 54 0 0 39 7 15.2174 MED23 0 genome.wustl.edu 37 6 131917389 131917389 + RNA DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 131917389 131917389 T - DEL MED23 ENST00000479213 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MED23 HGNC ENSG00000112282 10 0 0 8 10 55.5556 PERP 0 genome.wustl.edu 37 6 138417555 138417557 + In_Frame_Del DEL GAA GAA - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 138417555 138417557 GAA - DEL PERP ENST00000421351 human ensembl 74_37 -1 known in_frame_del c.291_289 p.F97in_frame_del 0.990:1.000:1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin - no_errors PERP HGNC ENSG00000112378 47 0 0 18 6 25 HIVEP2 0 genome.wustl.edu 37 6 143081633 143081634 + Frame_Shift_Ins INS - - T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 143081633 143081634 - T INS HIVEP2 ENST00000012134 human ensembl 74_37 -1 known frame_shift_ins c.5792_5791 p.T1931fs 1.000:1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 55 0 0 46 13 22.0339 JARID2 0 genome.wustl.edu 37 6 15496635 15496636 + Frame_Shift_Ins INS - - G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 15496635 15496636 - G INS JARID2 ENST00000341776 human ensembl 74_37 +1 known frame_shift_ins c.1179_1180 p.A395fs 1.000:1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 213 0 0 103 29 21.9697 ARID1B 0 genome.wustl.edu 37 6 157502210 157502211 + Frame_Shift_Del DEL AG AG - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 157502210 157502211 AG - DEL ARID1B ENST00000367148 human ensembl 74_37 +1 known frame_shift_del c.3363_3364 p.G1124fs 0.950:1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 71 0 0 32 10 23.8095 LPAL2 0 genome.wustl.edu 37 6 160887595 160887595 + RNA DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 160887595 160887595 T - DEL LPAL2 ENST00000606083 human ensembl 74_37 -1 known rna NULL NULL 0.621 - - - no_errors LPAL2 HGNC ENSG00000213071 10 0 0 5 3 37.5 QKI 0 genome.wustl.edu 37 6 163899920 163899920 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 163899920 163899920 A - DEL QKI ENST00000361752 human ensembl 74_37 +1 known frame_shift_del c.394 p.K134fs 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 90 0 0 49 24 32.8767 GPX5 0 genome.wustl.edu 37 6 28502011 28502011 + RNA DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 28502011 28502011 A - DEL GPX5 ENST00000442674 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GPX5 HGNC ENSG00000224586 25 0 0 14 5 26.3158 OR12D3 0 genome.wustl.edu 37 6 29342656 29342656 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 29342656 29342656 G - DEL OR12D3 ENST00000396806 human ensembl 74_37 -1 known frame_shift_del c.409 p.Q137fs 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR12D3 HGNC ENSG00000112462 71 0 0 42 12 22.2222 RNF39 0 genome.wustl.edu 37 6 30040952 30040952 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 30040952 30040952 T - DEL RNF39 ENST00000244360 human ensembl 74_37 -1 known frame_shift_del c.664 p.M222fs 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RNF39 HGNC ENSG00000204618 114 0 0 51 24 32 HLA-B 0 genome.wustl.edu 37 6 31324892 31324892 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 31324892 31324892 G - DEL HLA-B ENST00000412585 human ensembl 74_37 -1 known frame_shift_del c.44 p.A15fs 0.014 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 12 0 0 2 3 60 NELFE 0 genome.wustl.edu 37 6 31926206 31926206 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 31926206 31926206 G - DEL NELFE ENST00000375429 human ensembl 74_37 -1 known frame_shift_del c.18 p.G7fs 0.996 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NELFE HGNC ENSG00000204356 125 0 0 70 21 23.0769 RING1 0 genome.wustl.edu 37 6 33178990 33178990 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 33178990 33178990 G - DEL RING1 ENST00000374656 human ensembl 74_37 +1 known frame_shift_del c.511 p.E173fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RING1 HGNC ENSG00000204227 212 0 0 137 51 27.1277 UHRF1BP1 0 genome.wustl.edu 37 6 34839369 34839369 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 34839369 34839369 C - DEL UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known frame_shift_del c.3990 p.I1333fs 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 87 0 0 30 17 36.1702 ANKS1A 0 genome.wustl.edu 37 6 34951143 34951143 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 34951143 34951143 C - DEL ANKS1A ENST00000360359 human ensembl 74_37 +1 known frame_shift_del c.953 p.P320fs 0.002 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 121 0 0 73 30 29.1262 C6orf89 0 genome.wustl.edu 37 6 36867371 36867371 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 36867371 36867371 C - DEL C6orf89 ENST00000355190 human ensembl 74_37 +1 known frame_shift_del c.172 p.P60fs 0.991 NULL NULL - no_errors C6orf89 HGNC ENSG00000198663 83 0 0 62 12 16.2162 CD2AP 0 genome.wustl.edu 37 6 47575649 47575649 + RNA DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 47575649 47575649 A - DEL CD2AP ENST00000486693 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors CD2AP HGNC ENSG00000198087 128 0 0 66 21 24.1379 KIAA1009 0 genome.wustl.edu 37 6 84925098 84925098 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 84925098 84925098 A - DEL KIAA1009 ENST00000403245 human ensembl 74_37 -1 known frame_shift_del c.405 p.F135fs 1.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 17 0 0 15 6 28.5714 HTR1E 0 genome.wustl.edu 37 6 87725846 87725847 + Frame_Shift_Ins INS - - C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 6 87725846 87725847 - C INS HTR1E ENST00000305344 human ensembl 74_37 +1 known frame_shift_ins c.794_795 p.F268fs 1.000:1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 253 0 0 156 56 26.4151 SRRT 0 genome.wustl.edu 37 7 100479332 100479332 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 100479332 100479332 G - DEL SRRT ENST00000388793 human ensembl 74_37 +1 known frame_shift_del c.304 p.G104fs 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 61 0 0 53 32 37.6471 DPY19L2P2 0 genome.wustl.edu 37 7 102912317 102912318 + Splice_Site INS - - T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 102912317 102912318 - T INS DPY19L2P2 ENST00000312132 human ensembl 74_37 -1 known splice_site_ins c.NULL NULL 1.000:1.000 - - - no_errors DPY19L2P2 HGNC ENSG00000170629 37 0 0 33 16 32.6531 PTN 0 genome.wustl.edu 37 7 136938332 136938333 + Frame_Shift_Del DEL CA CA - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 136938332 136938333 CA - DEL PTN ENST00000348225 human ensembl 74_37 -1 known frame_shift_del c.168_167 p.V56fs 1.000:1.000 pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF pfam_PTN/MK_C_dom,pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF - no_errors PTN HGNC ENSG00000105894 52 0 0 47 21 30.8824 EPHB6 0 genome.wustl.edu 37 7 142562398 142562398 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 142562398 142562398 C - DEL EPHB6 ENST00000392957 human ensembl 74_37 +1 known frame_shift_del c.840 p.R283fs 0.997 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 104 0 0 76 49 39.2 NOS3 0 genome.wustl.edu 37 7 150698397 150698398 + Frame_Shift_Ins INS - - G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 150698397 150698398 - G INS NOS3 ENST00000297494 human ensembl 74_37 +1 known frame_shift_ins c.1312_1313 p.C441fs 0.998:1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 109 0 0 102 29 22.1374 INTS1 0 genome.wustl.edu 37 7 1544207 1544208 + Frame_Shift_Ins INS - - CC TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 1544207 1544208 - CC INS INTS1 ENST00000389470 human ensembl 74_37 -1 known frame_shift_ins c.95_94 p.A32fs 0.000:0.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 32 0 0 11 16 59.2593 IGF2BP3 0 genome.wustl.edu 37 7 23387379 23387379 + RNA DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 23387379 23387379 A - DEL IGF2BP3 ENST00000497563 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors IGF2BP3 HGNC ENSG00000136231 35 0 0 34 31 47.6923 FKBP9 0 genome.wustl.edu 37 7 33014804 33014804 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 33014804 33014804 C - DEL FKBP9 ENST00000538336 human ensembl 74_37 +1 known frame_shift_del c.537 p.N182fs 0.998 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP9 HGNC ENSG00000122642 99 0 0 47 26 35.6164 NPC1L1 0 genome.wustl.edu 37 7 44576448 44576448 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 44576448 44576448 C - DEL NPC1L1 ENST00000289547 human ensembl 74_37 -1 known frame_shift_del c.1674 p.Y559fs 0.134 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 80 0 0 35 26 42.623 TRIM50 0 genome.wustl.edu 37 7 72732951 72732951 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 72732951 72732951 C - DEL TRIM50 ENST00000333149 human ensembl 74_37 -1 known frame_shift_del c.596 p.G199fs 0.029 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM50 HGNC ENSG00000146755 134 0 0 129 38 22.7545 PCLO 0 genome.wustl.edu 37 7 82390055 82390055 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 82390055 82390055 T - DEL PCLO ENST00000333891 human ensembl 74_37 -1 known frame_shift_del c.15188 p.K5063fs 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 28 0 0 28 22 44 DBF4 0 genome.wustl.edu 37 7 87507389 87507389 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 7 87507389 87507389 A - DEL DBF4 ENST00000265728 human ensembl 74_37 +1 known frame_shift_del c.68 p.N25fs 1.000 NULL pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4 HGNC ENSG00000006634 151 0 0 98 72 42.3529 VPS13B 0 genome.wustl.edu 37 8 100865890 100865890 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 100865890 100865890 G - DEL VPS13B ENST00000358544 human ensembl 74_37 +1 known frame_shift_del c.10348 p.D3451fs 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 87 0 0 102 26 20.3125 LRP12 0 genome.wustl.edu 37 8 105509429 105509429 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 105509429 105509429 A - DEL LRP12 ENST00000424843 human ensembl 74_37 -1 known frame_shift_del c.1294 p.C432fs 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 154 0 0 107 29 21.3235 ANXA13 0 genome.wustl.edu 37 8 124707762 124707762 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 124707762 124707762 T - DEL ANXA13 ENST00000262219 human ensembl 74_37 -1 known frame_shift_del c.574 p.I192fs 0.994 pfam_Annexin_repeat,smart_Annexin_repeat pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII - no_errors ANXA13 HGNC ENSG00000104537 236 0 0 177 53 23.0435 SQLE 0 genome.wustl.edu 37 8 126011893 126011893 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 126011893 126011893 C - DEL SQLE ENST00000265896 human ensembl 74_37 +1 known frame_shift_del c.248 p.P85fs 0.028 NULL pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like - no_errors SQLE HGNC ENSG00000104549 39 0 0 33 7 17.5 PHF20L1 0 genome.wustl.edu 37 8 133837586 133837586 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 133837586 133837586 A - DEL PHF20L1 ENST00000395386 human ensembl 74_37 +1 putative frame_shift_del c.1714 p.K574fs 1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 17 0 0 8 4 33.3333 PTK2 0 genome.wustl.edu 37 8 141754889 141754892 + RNA DEL AAAA AAAA - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 141754889 141754892 AAAA - DEL PTK2 ENST00000518509 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.004:0.005:0.002 - - - no_errors PTK2 HGNC ENSG00000169398 33 0 0 31 7 18.4211 EPPK1 0 genome.wustl.edu 37 8 144941378 144941378 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 144941378 144941378 C - DEL EPPK1 ENST00000525985 human ensembl 74_37 -1 known frame_shift_del c.6044 p.G2015fs 0.996 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 39 0 0 42 19 31.1475 CYC1 0 genome.wustl.edu 37 8 145150876 145150876 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 145150876 145150876 C - DEL CYC1 ENST00000318911 human ensembl 74_37 +1 known frame_shift_del c.270 p.S93fs 1.000 superfamily_Cyt_c-like_dom pfam_Cyt_c1,superfamily_Cyt_c-like_dom,superfamily_Cyt_c1_TM_anchor_C,prints_Cyt_c1 - no_errors CYC1 HGNC ENSG00000179091 99 0 0 99 29 22.6562 CCAR2 0 genome.wustl.edu 37 8 22472975 22472975 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 22472975 22472975 C - DEL CCAR2 ENST00000308511 human ensembl 74_37 +1 known frame_shift_del c.1243 p.R417fs 1.000 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 191 0 0 182 58 24.1667 LOXL2 0 genome.wustl.edu 37 8 23155605 23155605 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 23155605 23155605 T - DEL LOXL2 ENST00000389131 human ensembl 74_37 -1 known frame_shift_del c.2276 p.K759fs 0.994 NULL pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL2 HGNC ENSG00000134013 50 0 0 38 8 17.3913 SCARA5 0 genome.wustl.edu 37 8 27729504 27729504 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 27729504 27729504 C - DEL SCARA5 ENST00000354914 human ensembl 74_37 -1 known frame_shift_del c.1435 p.V479fs 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors SCARA5 HGNC ENSG00000168079 110 0 0 101 31 23.4848 FBXO25 0 genome.wustl.edu 37 8 381399 381399 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 381399 381399 A - DEL FBXO25 ENST00000276326 human ensembl 74_37 +1 known frame_shift_del c.193 p.R67fs 1.000 NULL superfamily_F-box_dom - no_errors FBXO25 HGNC ENSG00000147364 87 0 0 55 13 19.1176 KAT6A 0 genome.wustl.edu 37 8 41834604 41834604 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 41834604 41834604 C - DEL KAT6A ENST00000265713 human ensembl 74_37 -1 known frame_shift_del c.1285 p.E429fs 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 122 0 0 82 23 21.9048 MTFR1 0 genome.wustl.edu 37 8 66619376 66619377 + Frame_Shift_Del DEL AA AA - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 66619376 66619377 AA - DEL MTFR1 ENST00000262146 human ensembl 74_37 +1 known frame_shift_del c.649_650 p.R218fs 0.978:0.897 pfam_Mtfr1 pfam_Mtfr1 - no_errors MTFR1 HGNC ENSG00000066855 84 0 0 62 19 23.4568 MYBL1 0 genome.wustl.edu 37 8 67488453 67488453 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 67488453 67488453 T - DEL MYBL1 ENST00000522677 human ensembl 74_37 -1 known frame_shift_del c.1259 p.N420fs 0.992 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL1 HGNC ENSG00000185697 167 0 0 155 55 26.1905 SGK3 0 genome.wustl.edu 37 8 67752203 67752204 + RNA DEL TC TC - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 67752203 67752204 TC - DEL SGK3 ENST00000521435 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors SGK3 HGNC ENSG00000104205 31 0 0 38 16 29.6296 TERF1 0 genome.wustl.edu 37 8 73921284 73921286 + In_Frame_Del DEL GAG GAG - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 73921284 73921286 GAG - DEL TERF1 ENST00000276603 human ensembl 74_37 +1 known in_frame_del c.163_165 p.E58in_frame_del 0.121:0.130:0.144 pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF1 HGNC ENSG00000147601 22 0 0 12 4 25 E2F5 0 genome.wustl.edu 37 8 86114461 86114461 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 86114461 86114461 A - DEL E2F5 ENST00000256117 human ensembl 74_37 +1 known frame_shift_del c.314 p.K107fs 1.000 pfam_E2F_TDP pfam_E2F_TDP - no_errors E2F5 HGNC ENSG00000133740 28 0 0 22 6 21.4286 TNKS 0 genome.wustl.edu 37 8 9565940 9565940 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 8 9565940 9565940 A - DEL TNKS ENST00000310430 human ensembl 74_37 +1 known frame_shift_del c.1516 p.T508fs 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 143 1 0.694444 97 34 25.9542 INVS 0 genome.wustl.edu 37 9 103054983 103054983 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 103054983 103054983 G - DEL INVS ENST00000262457 human ensembl 74_37 +1 known frame_shift_del c.2444 p.E817fs 0.977 NULL pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 77 0 0 40 19 32.2034 CYLC2 0 genome.wustl.edu 37 9 105767539 105767539 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 105767539 105767539 A - DEL CYLC2 ENST00000374798 human ensembl 74_37 +1 known frame_shift_del c.626 p.G211fs 0.062 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 44 0 0 32 9 21.9512 IKBKAP 0 genome.wustl.edu 37 9 111681560 111681561 + Frame_Shift_Ins INS - - A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 111681560 111681561 - A INS IKBKAP ENST00000374647 human ensembl 74_37 -1 known frame_shift_ins c.622_621 p.A207fs 1.000:1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 44 0 0 27 7 20.5882 CDK5RAP2 0 genome.wustl.edu 37 9 123223027 123223027 + Splice_Site DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 123223027 123223027 T - DEL CDK5RAP2 ENST00000480112 human ensembl 74_37 -1 known splice_site_del c.2104-2 e19-2 0.979 - - - no_errors CDK5RAP2 HGNC ENSG00000136861 14 0 0 7 7 50 DAB2IP 0 genome.wustl.edu 37 9 124536637 124536637 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 124536637 124536637 C - DEL DAB2IP ENST00000408936 human ensembl 74_37 +1 known frame_shift_del c.3066 p.H1025fs 0.988 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 31 0 0 11 8 42.1053 ENG 0 genome.wustl.edu 37 9 130588851 130588851 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 130588851 130588851 C - DEL ENG ENST00000373203 human ensembl 74_37 -1 known frame_shift_del c.461 p.G154fs 0.770 NULL pfam_ZP_dom - no_errors ENG HGNC ENSG00000106991 72 0 0 33 13 28.2609 PRRC2B 0 genome.wustl.edu 37 9 134330506 134330508 + In_Frame_Del DEL TGA TGA - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 TGA TGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 134330506 134330508 TGA - DEL PRRC2B ENST00000357304 human ensembl 74_37 +1 known in_frame_del c.1164_1166 p.D390in_frame_del 0.920:1.000:1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 44 0 0 39 9 18.75 POMT1 0 genome.wustl.edu 37 9 134390826 134390827 + Frame_Shift_Ins INS - - C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 134390826 134390827 - C INS POMT1 ENST00000372228 human ensembl 74_37 +1 known frame_shift_ins c.1255_1256 p.L421fs 0.997:0.999 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT1 HGNC ENSG00000130714 175 0 0 92 36 28.125 ADAMTSL1 0 genome.wustl.edu 37 9 18504916 18504916 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 18504916 18504916 T - DEL ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known frame_shift_del c.153 p.A53fs 0.945 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 57 0 0 44 17 27.8689 DENND4C 0 genome.wustl.edu 37 9 19346885 19346887 + In_Frame_Del DEL CTT CTT - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 19346885 19346887 CTT - DEL DENND4C ENST00000602925 human ensembl 74_37 +1 known in_frame_del c.3971_3973 p.S1325in_frame_del 0.825:0.844:1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 51 0 0 45 17 27.4194 C9orf131 0 genome.wustl.edu 37 9 35043650 35043650 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 35043650 35043650 C - DEL C9orf131 ENST00000312292 human ensembl 74_37 +1 known frame_shift_del c.1024 p.C344fs 0.000 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 489 1 0.204082 266 80 23.1214 VPS13A 0 genome.wustl.edu 37 9 79836219 79836219 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 79836219 79836219 A - DEL VPS13A ENST00000360280 human ensembl 74_37 +1 known frame_shift_del c.1108 p.K372fs 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 100 0 0 64 29 31.1828 NOL8 0 genome.wustl.edu 37 9 95064081 95064082 + Frame_Shift_Ins INS - - T TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 95064081 95064082 - T INS NOL8 ENST00000442668 human ensembl 74_37 -1 known frame_shift_ins c.2927_2926 p.R976fs 0.998:0.997 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC ENSG00000198000 9 0 0 6 3 33.3333 ASPN 0 genome.wustl.edu 37 9 95221949 95221949 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 95221949 95221949 T - DEL ASPN ENST00000375544 human ensembl 74_37 -1 known frame_shift_del c.910 p.I304fs 1.000 smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors ASPN HGNC ENSG00000106819 59 0 0 29 15 34.0909 FANCC 0 genome.wustl.edu 37 9 98003011 98003011 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a 9 98003011 98003011 T - DEL FANCC ENST00000289081 human ensembl 74_37 -1 known frame_shift_del c.265 p.I89fs 0.999 pfam_Fanconi,pirsf_Fanconi,prints_Fanconi pfam_Fanconi,pirsf_Fanconi,prints_Fanconi - no_errors FANCC HGNC ENSG00000158169 60 0 0 40 18 31.0345 RNF128 0 genome.wustl.edu 37 X 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 105937256 105937256 T - DEL RNF128 ENST00000324342 human ensembl 74_37 +1 known frame_shift_del c.24 p.W11fs 0.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC ENSG00000133135 63 0 0 45 16 26.2295 IRS4 0 genome.wustl.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 107977802 107977803 - C INS IRS4 ENST00000372129 human ensembl 74_37 -1 known frame_shift_ins c.1773_1772 p.K592fs 0.031:0.016 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 368 2 0.540541 204 77 27.4021 PLS3 0 genome.wustl.edu 37 X 114879381 114879382 + Frame_Shift_Del DEL CT CT - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 114879381 114879382 CT - DEL PLS3 ENST00000355899 human ensembl 74_37 +1 known frame_shift_del c.1224_1225 p.L410fs 0.998:1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors PLS3 HGNC ENSG00000102024 172 0 0 88 45 33.8346 MIR1277 0 genome.wustl.edu 37 X 117520365 117520366 + RNA INS - - AT TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 117520365 117520366 - AT INS MIR1277 ENST00000408536 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.986 - - - no_errors MIR1277 HGNC ENSG00000221463 74 0 0 48 6 11.1111 CXorf56 0 genome.wustl.edu 37 X 118678354 118678354 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 118678354 118678354 T - DEL CXorf56 ENST00000371594 human ensembl 74_37 -1 known frame_shift_del c.385 p.T129fs 1.000 NULL NULL - no_errors CXorf56 HGNC ENSG00000018610 154 0 0 68 39 36.4486 BCORL1 0 genome.wustl.edu 37 X 129190011 129190011 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 129190011 129190011 C - DEL BCORL1 ENST00000303743 human ensembl 74_37 +1 known frame_shift_del c.5258 p.P1755fs 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 118 1 0.840336 82 40 32.7869 MST4 0 genome.wustl.edu 37 X 131203605 131203605 + Frame_Shift_Del DEL A A - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 131203605 131203605 A - DEL MST4 ENST00000394334 human ensembl 74_37 +1 known frame_shift_del c.697 p.N234fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST4 Uniprot_gn ENSG00000134602 54 0 0 26 8 23.5294 SPANXC 0 genome.wustl.edu 37 X 140335820 140335820 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 140335820 140335820 T - DEL SPANXC ENST00000358993 human ensembl 74_37 -1 known frame_shift_del c.124 p.M42fs 0.004 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXC HGNC ENSG00000198573 200 0 0 132 14 9.58904 FLNA 0 genome.wustl.edu 37 X 153583264 153583264 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 153583264 153583264 G - DEL FLNA ENST00000369850 human ensembl 74_37 -1 known frame_shift_del c.5146 p.Q1716fs 0.969 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 78 0 0 51 18 26.087 FAM47C 0 genome.wustl.edu 37 X 37028275 37028275 + Frame_Shift_Del DEL C C - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 37028275 37028275 C - DEL FAM47C ENST00000358047 human ensembl 74_37 +1 known frame_shift_del c.1792 p.E600fs 0.004 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 177 0 0 106 25 19.084 RPGR 0 genome.wustl.edu 37 X 38144935 38144935 + Frame_Shift_Del DEL T T - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 38144935 38144935 T - DEL RPGR ENST00000378505 human ensembl 74_37 -1 known frame_shift_del c.3317 p.K1106fs 0.000 NULL pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 320 0 0 193 64 24.9027 CCDC120 0 genome.wustl.edu 37 X 48925140 48925140 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 48925140 48925140 G - DEL CCDC120 ENST00000603986 human ensembl 74_37 +1 known frame_shift_del c.1490 p.E499fs 1.000 NULL pfam_DUF3338 - no_errors CCDC120 HGNC ENSG00000147144 78 0 0 29 9 23.6842 HUWE1 0 genome.wustl.edu 37 X 53658574 53658575 + RNA INS - - A TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 53658574 53658575 - A INS HUWE1 ENST00000471676 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors HUWE1 HGNC ENSG00000086758 95 0 0 53 23 30.2632 FGD1 0 genome.wustl.edu 37 X 54497147 54497148 + Frame_Shift_Ins INS - - G TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 54497147 54497148 - G INS FGD1 ENST00000375135 human ensembl 74_37 -1 known frame_shift_ins c.528_527 p.L177fs 0.009:0.039 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 8 0 0 6 4 40 NLGN3 0 genome.wustl.edu 37 X 70387541 70387541 + Frame_Shift_Del DEL G G - TCGA-HU-A4H3-01A-21D-A25D-08 TCGA-HU-A4H3-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d4217ee3-8720-46c6-86c4-981ce6377fa9 1f68952d-2c49-4562-815b-bab0dc54415a X 70387541 70387541 G - DEL NLGN3 ENST00000358741 human ensembl 74_37 +1 known frame_shift_del c.1594 p.V533fs 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 174 0 0 107 51 32.2785