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 ABCC4 10257 genome.wustl.edu 37 13 95815421 95815421 + Missense_Mutation SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 13 95815421 95815421 C T SNP ABCC4 ENST00000376887 human ensembl 70_37 -1 known missense c.2263 p.V755I 0.950 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ACTB 60 genome.wustl.edu 37 7 5567197 5567197 + RNA SNP C C G TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 7 5567197 5567197 C G SNP ACTB ENST00000464611 human ensembl 70_37 -1 known rna NULL NULL 0.162 - - - no_errors ACTB HGNC ADC 0 genome.wustl.edu 37 1 33567487 33567487 + Silent SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 1 33567487 33567487 C T SNP ADC ENST00000358680 human ensembl 70_37 +1 known silent c.609 p.A203 0.002 NULL pfam_De-COase2_N,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase - no_errors ADC HGNC AKNA 80709 genome.wustl.edu 37 9 117099458 117099458 + Missense_Mutation SNP T T C TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 9 117099458 117099458 T C SNP AKNA ENST00000307564 human ensembl 70_37 -1 known missense c.4196 p.N1399S 0.002 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ANK2 287 genome.wustl.edu 37 4 114290917 114290917 + Missense_Mutation SNP C C A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 4 114290917 114290917 C A SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.11566 p.P3856T 0.780 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ARID1A 8289 genome.wustl.edu 37 1 27057742 27057742 + Frame_Shift_Del DEL C C - TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 1 27057742 27057742 C - DEL ARID1A ENST00000324856 human ensembl 70_37 +1 known frame_shift_del c.1450 p.Y485fs 0.694 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 ARID1A 8289 genome.wustl.edu 37 1 27057820 27057820 + Nonsense_Mutation SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 1 27057820 27057820 C T SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known nonsense c.1528 p.Q510* 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 C10orf90 118611 genome.wustl.edu 37 10 128335207 128335207 + Splice_Site SNP C C G TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 10 128335207 128335207 C G SNP C10orf90 ENST00000544758 human ensembl 70_37 -1 known splice_site c.241-1 e2-1 0.998 - - - no_errors C10orf90 HGNC CD1E 913 genome.wustl.edu 37 1 158325832 158325832 + Missense_Mutation SNP G G T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 1 158325832 158325832 G T SNP CD1E ENST00000368167 human ensembl 70_37 +1 known missense c.841 p.A281S 0.043 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1E HGNC CENPF 1063 genome.wustl.edu 37 1 214794046 214794046 + Missense_Mutation SNP G G T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 1 214794046 214794046 G T SNP CENPF ENST00000366955 human ensembl 70_37 +1 known missense c.622 p.A208S 1.000 pfam_Centromere_CenpF_N pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC CHD4 1108 genome.wustl.edu 37 12 6709699 6709699 + Splice_Site SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 12 6709699 6709699 C T SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known splice_site c.1063+1 e7+1 1.000 - - - no_errors CHD4 HGNC CHEK2 11200 genome.wustl.edu 37 22 29095918 29095918 + Missense_Mutation SNP C C A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 22 29095918 29095918 C A SNP CHEK2 ENST00000382580 human ensembl 70_37 -1 known missense c.1045 p.G349W 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_cat_dom - no_errors CHEK2 HGNC COX7A2L 9167 genome.wustl.edu 37 2 42578285 42578285 + RNA SNP A A T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 2 42578285 42578285 A T SNP COX7A2L ENST00000482463 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors COX7A2L HGNC CPT1C 126129 genome.wustl.edu 37 19 50203982 50203982 + Missense_Mutation SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 19 50203982 50203982 C T SNP CPT1C ENST00000323446 human ensembl 70_37 +1 known missense c.323 p.A108V 0.026 NULL pfam_Carn_acyl_trans - no_errors CPT1C HGNC DNAH8 1769 genome.wustl.edu 37 6 38840874 38840874 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 6 38840874 38840874 G A SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known missense c.6779 p.G2260D 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC DRP2 1821 genome.wustl.edu 37 X 100492679 100492679 + Missense_Mutation SNP T T A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e X 100492679 100492679 T A SNP DRP2 ENST00000395209 human ensembl 70_37 +1 known missense c.353 p.L118H 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DRP2 HGNC EFCAB4A 283229 genome.wustl.edu 37 11 831574 831574 + Silent SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 11 831574 831574 C T SNP EFCAB4A ENST00000525077 human ensembl 70_37 +1 novel silent c.1065 p.C355 0.973 NULL pfscan_EF_HAND_2 - no_errors EFCAB4A HGNC ENSG00000232765 0 genome.wustl.edu 37 X 55307825 55307825 + RNA SNP A A G TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e X 55307825 55307825 A G SNP ENSG00000232765 ENST00000440645 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-382F24.2 Clone_based_vega_gene EXOC3L4 91828 genome.wustl.edu 37 14 103568544 103568544 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 14 103568544 103568544 G A SNP EXOC3L4 ENST00000380069 human ensembl 70_37 +1 known missense c.484 p.E162K 0.001 NULL pfam_Sec6 - no_errors EXOC3L4 HGNC GCK 2645 genome.wustl.edu 37 7 44189446 44189446 + Missense_Mutation SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 7 44189446 44189446 C T SNP GCK ENST00000345378 human ensembl 70_37 -1 known missense c.595 p.D199N 1.000 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors GCK HGNC GIPC2 54810 genome.wustl.edu 37 1 78601340 78601340 + Silent SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 1 78601340 78601340 C T SNP GIPC2 ENST00000370759 human ensembl 70_37 +1 known silent c.861 p.D287 0.139 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,superfamily_Ig_E-set,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC2 HGNC HERC1 8925 genome.wustl.edu 37 15 63921011 63921011 + Missense_Mutation SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 15 63921011 63921011 C T SNP HERC1 ENST00000443617 human ensembl 70_37 -1 known missense c.12970 p.G4324S 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC HLA-J 3137 genome.wustl.edu 37 6 29974575 29974575 + Splice_Site SNP A A G TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 6 29974575 29974575 A G SNP HLA-J ENST00000462773 human ensembl 70_37 +1 known splice_site c.NULL NULL 0.061 - - - no_errors HLA-J HGNC HYDIN 54768 genome.wustl.edu 37 16 70894771 70894771 + Silent SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 16 70894771 70894771 C T SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known silent c.11808 p.P3936 0.002 NULL superfamily_PapD-like - no_errors HYDIN HGNC KBTBD8 84541 genome.wustl.edu 37 3 67058535 67058535 + Missense_Mutation SNP G G T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 3 67058535 67058535 G T SNP KBTBD8 ENST00000417314 human ensembl 70_37 +1 known missense c.1532 p.R511L 0.998 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,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 KBTBD8 HGNC KCNJ12 3768 genome.wustl.edu 37 17 21319343 21319343 + Missense_Mutation SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 17 21319343 21319343 C T SNP KCNJ12 ENST00000331718 human ensembl 70_37 +1 known missense c.689 p.A230V 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC KIDINS220 57498 genome.wustl.edu 37 2 8918771 8918771 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 2 8918771 8918771 G A SNP KIDINS220 ENST00000256707 human ensembl 70_37 -1 known missense c.2701 p.R901W 1.000 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC KIF5C 3800 genome.wustl.edu 37 2 149866723 149866723 + Silent SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 2 149866723 149866723 C T SNP KIF5C ENST00000435030 human ensembl 70_37 +1 known silent c.2625 p.R875 0.117 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5C HGNC KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 12 25398284 25398284 C A SNP KRAS ENST00000256078 human ensembl 70_37 -1 known missense c.35 p.G12V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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,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 LOC100996870 100996870 genome.wustl.edu 37 9 66466242 66466242 + RNA SNP T T C TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 9 66466242 66466242 T C SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors RP11-262H14.1 Clone_based_vega_gene LOC101060787 101060787 genome.wustl.edu 37 22 20708820 20708820 + Silent SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 22 20708820 20708820 C T SNP LOC101060787 ENST00000434783 human ensembl 70_37 +1 putative silent c.552 p.I184 0.023 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors AC007731.1 Clone_based_vega_gene LRRD1 401387 genome.wustl.edu 37 7 91794221 91794221 + Missense_Mutation SNP C C A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 7 91794221 91794221 C A SNP LRRD1 ENST00000430130 human ensembl 70_37 -1 known missense c.296 p.S99I 0.000 NULL pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death - no_errors LRRD1 HGNC MAP7 9053 genome.wustl.edu 37 6 136698939 136698939 + Silent SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 6 136698939 136698939 C T SNP MAP7 ENST00000454590 human ensembl 70_37 -1 known silent c.771 p.S257 1.000 NULL pfam_E-MAP-115 - no_errors MAP7 HGNC MIR3648 100500862 genome.wustl.edu 37 21 9825991 9825991 + RNA SNP C C G TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 21 9825991 9825991 C G SNP MIR3648 ENST00000581792 human ensembl 70_37 +1 known rna NULL NULL 0.121 - - - no_errors MIR3648 HGNC MKL2 57496 genome.wustl.edu 37 16 14339465 14339465 + Missense_Mutation SNP C C G TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 16 14339465 14339465 C G SNP MKL2 ENST00000341243 human ensembl 70_37 +1 known missense c.1127 p.S376C 0.002 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MKL2 HGNC MUC2 4583 genome.wustl.edu 37 11 1099467 1099467 + Silent SNP T T C TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 11 1099467 1099467 T C SNP MUC2 ENST00000441003 human ensembl 70_37 +1 known silent c.7308 p.P2436 0.001 superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC MYH7B 57644 genome.wustl.edu 37 20 33567553 33567553 + Silent SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 20 33567553 33567553 C T SNP MYH7B ENST00000262873 human ensembl 70_37 +1 novel silent c.414 p.N138 0.996 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC NACA 4666 genome.wustl.edu 37 12 57110236 57110236 + Missense_Mutation SNP G G C TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 12 57110236 57110236 G C SNP NACA ENST00000454682 human ensembl 70_37 -1 known missense c.5078 p.T1693R 0.000 NULL pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACA HGNC NARS2 79731 genome.wustl.edu 37 11 78270635 78270635 + Missense_Mutation SNP T T C TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 11 78270635 78270635 T C SNP NARS2 ENST00000281038 human ensembl 70_37 -1 known missense c.544 p.I182V 0.794 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asn-tRNA-ligase_IIb pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase_IIb - no_errors NARS2 HGNC NCKAP5 344148 genome.wustl.edu 37 2 133887640 133887640 + Missense_Mutation SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 2 133887640 133887640 C T SNP NCKAP5 ENST00000317721 human ensembl 70_37 -1 known missense c.251 p.R84H 1.000 NULL NULL - no_errors NCKAP5 HGNC OBSCN 84033 genome.wustl.edu 37 1 228520902 228520902 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 1 228520902 228520902 G A SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.15734 p.R5245Q 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC OR8D2 283160 genome.wustl.edu 37 11 124189609 124189609 + Missense_Mutation SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 11 124189609 124189609 C T SNP OR8D2 ENST00000357438 human ensembl 70_37 -1 known missense c.485 p.R162H 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D2 HGNC PCDHB10 56126 genome.wustl.edu 37 5 140573806 140573806 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 5 140573806 140573806 G A SNP PCDHB10 ENST00000239446 human ensembl 70_37 +1 known missense c.1681 p.V561M 0.894 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC PCDHB16 57717 genome.wustl.edu 37 5 140563815 140563815 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 5 140563815 140563815 G A SNP PCDHB16 ENST00000361016 human ensembl 70_37 +1 known missense c.1681 p.V561M 0.848 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC PCSK7 9159 genome.wustl.edu 37 11 117076957 117076957 + Missense_Mutation SNP T T C TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 11 117076957 117076957 T C SNP PCSK7 ENST00000320934 human ensembl 70_37 -1 known missense c.2114 p.H705R 0.674 NULL pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC PDE6D 5147 genome.wustl.edu 37 2 232597737 232597737 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 2 232597737 232597737 G A SNP PDE6D ENST00000409772 human ensembl 70_37 -1 putative missense c.272 p.T91M 0.909 NULL pfam_GMP_PDE_delta,superfamily_Ig_E-set - no_errors PDE6D HGNC PEBP4 157310 genome.wustl.edu 37 8 22582443 22582443 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 8 22582443 22582443 G A SNP PEBP4 ENST00000256404 human ensembl 70_37 -1 known missense c.430 p.H144Y 0.000 pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP - no_errors PEBP4 HGNC PHC2 1912 genome.wustl.edu 37 1 33841026 33841026 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 1 33841026 33841026 G A SNP PHC2 ENST00000419414 human ensembl 70_37 -1 known missense c.115 p.R39C 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178916944 178916944 + Missense_Mutation SNP A A G TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 3 178916944 178916944 A G SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.331 p.K111E 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PJA1 64219 genome.wustl.edu 37 X 68382228 68382228 + Missense_Mutation SNP T T C TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e X 68382228 68382228 T C SNP PJA1 ENST00000361478 human ensembl 70_37 -1 known missense c.854 p.H285R 0.152 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC PNLIP 5406 genome.wustl.edu 37 10 118319999 118319999 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 10 118319999 118319999 G A SNP PNLIP ENST00000369221 human ensembl 70_37 +1 known missense c.1132 p.G378R 1.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2 pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase,prints_Lipase_panc - no_errors PNLIP HGNC PTEN 5728 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 10 89692905 89692905 G A SNP PTEN ENST00000371953 human ensembl 70_37 +1 known missense c.389 p.R130Q 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC QSER1 79832 genome.wustl.edu 37 11 32995031 32995031 + Missense_Mutation SNP T T C TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 11 32995031 32995031 T C SNP QSER1 ENST00000399302 human ensembl 70_37 +1 known missense c.4907 p.M1636T 1.000 NULL NULL - no_errors QSER1 HGNC RBM23 55147 genome.wustl.edu 37 14 23371498 23371498 + Nonsense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 14 23371498 23371498 G A SNP RBM23 ENST00000359890 human ensembl 70_37 -1 known nonsense c.1024 p.R342* 0.945 tigrfam_CC1_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_CC1_SF - no_errors RBM23 HGNC REG1B 5968 genome.wustl.edu 37 2 79313499 79313499 + Silent SNP T T G TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 2 79313499 79313499 T G SNP REG1B ENST00000305089 human ensembl 70_37 -1 known silent c.315 p.P105 0.001 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG1B HGNC SGOL1 151648 genome.wustl.edu 37 3 20212755 20212755 + RNA DEL A A - TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 3 20212755 20212755 A - DEL SGOL1 ENST00000460637 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors SGOL1 HGNC SOX17 64321 genome.wustl.edu 37 8 55370985 55370985 + Missense_Mutation SNP C C G TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 8 55370985 55370985 C G SNP SOX17 ENST00000297316 human ensembl 70_37 +1 known missense c.287 p.A96G 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_Sox_C_TAD,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX17 HGNC SPRYD3 84926 genome.wustl.edu 37 12 53468542 53468542 + Missense_Mutation SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 12 53468542 53468542 C T SNP SPRYD3 ENST00000301463 human ensembl 70_37 -1 known missense c.398 p.R133H 0.998 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors SPRYD3 HGNC STAT5A 6776 genome.wustl.edu 37 17 40452767 40452767 + Missense_Mutation SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 17 40452767 40452767 C T SNP STAT5A ENST00000345506 human ensembl 70_37 +1 known missense c.868 p.R290W 1.000 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC TGFB3 7043 genome.wustl.edu 37 14 76437563 76437563 + Silent SNP G G C TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 14 76437563 76437563 G C SNP TGFB3 ENST00000238682 human ensembl 70_37 -1 known silent c.552 p.R184 1.000 pfam_TGF-b_N,pirsf_TGF-beta,prints_Transform_grow_fac_b3,prints_TGF-beta pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_Transform_grow_fac_b3,prints_TGF-beta - no_errors TGFB3 HGNC THAP4 51078 genome.wustl.edu 37 2 242572605 242572605 + Missense_Mutation SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 2 242572605 242572605 C T SNP THAP4 ENST00000407315 human ensembl 70_37 -1 known missense c.967 p.A323T 0.996 NULL pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP4 HGNC TRIM2 23321 genome.wustl.edu 37 4 154197120 154197120 + Silent SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 4 154197120 154197120 C T SNP TRIM2 ENST00000338700 human ensembl 70_37 +1 known silent c.291 p.P97 1.000 NULL pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM2 HGNC TTC22 55001 genome.wustl.edu 37 1 55266581 55266581 + Frame_Shift_Del DEL G G - TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 1 55266581 55266581 G - DEL TTC22 ENST00000371276 human ensembl 70_37 -1 known frame_shift_del c.256 p.R86fs 1.000 smart_TPR_repeat smart_TPR_repeat - no_errors TTC22 HGNC UPK2 7379 genome.wustl.edu 37 11 118828883 118828883 + Silent SNP C C T TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 11 118828883 118828883 C T SNP UPK2 ENST00000264031 human ensembl 70_37 +1 known silent c.495 p.V165 0.323 pfam_Uroplakin_II,pirsf_Uroplakin_II pfam_Uroplakin_II,pirsf_Uroplakin_II - no_errors UPK2 HGNC ZNF331 55422 genome.wustl.edu 37 19 54080494 54080494 + Missense_Mutation SNP G G A TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c562265-1507-4db5-a860-7f5957062943 064a0bfd-273b-4043-a48b-323703069f1e 19 54080494 54080494 G A SNP ZNF331 ENST00000253144 human ensembl 70_37 +1 known missense c.680 p.G227D 0.009 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF331 HGNC