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 Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut GOLGA5 9950 broad.mit.edu 37 14 93264023 93264023 + Missense_Mutation SNP A A C TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr14:93264023A>C ENST00000163416.2 + 2 497 c.241A>C c.(241-243)Act>Cct p.T81P GOLGA5_ENST00000355976.2_Missense_Mutation_p.T81P NM_005113.2 NP_005104.2 Q8TBA6 GOGA5_HUMAN golgin A5 81 Golgi organization cis-Golgi network|integral to membrane ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding p.T81P(1) large_intestine(6)|lung(1)|ovary(2) 9 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) CTTAGCTGGCACTGCAAATGT 0.413000 T RET papillary thyroid 10 175 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10430104 10430104 + Silent SNP G G A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr17:10430104G>A ENST00000245503.5 - 30 4383 c.3999C>T c.(3997-3999)aaC>aaT p.N1333N CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Silent_p.N1333N NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1333 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.N1333N(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCGCCAGGGCGTTCTTGGCCT 0.498000 5 151 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186094769 186094769 + Missense_Mutation SNP A A G TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr1:186094769A>G ENST00000271588.4 + 82 12762 c.12533A>G c.(12532-12534)tAc>tGc p.Y4178C HMCN1_ENST00000367492.2_Missense_Mutation_p.Y4178C NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4178 Ig-like C2-type 41. response to stimulus|visual perception basement membrane calcium ion binding p.Y4178C(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GAAGGACACTACACGGTCAAT 0.388000 5 98 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27782957 27782957 + Silent SNP G G A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr16:27782957G>A ENST00000261588.4 + 22 4201 c.4182G>A c.(4180-4182)ccG>ccA p.P1394P NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 1394 p.P1394P(4) breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 ACGAGGCACCGCTGATGCCCT 0.607000 7 134 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133540002 133540002 + Missense_Mutation SNP G G A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr2:133540002G>A ENST00000409261.1 - 14 4755 c.4382C>T c.(4381-4383)gCt>gTt p.A1461V NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1461V NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1461 protein binding p.A1461V(1) NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TGAACTCACAGCATCAGTCGC 0.502000 19 68 0 0 1 0 0 CCNA1 8900 broad.mit.edu 37 13 37006834 37006834 + Missense_Mutation SNP G G A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr13:37006834G>A ENST00000418263.1 + 1 426 c.76G>A c.(76-78)Gaa>Aaa p.E26K CCNA1_ENST00000449823.1_Intron|CCNA1_ENST00000440264.1_Intron|CCNA1_ENST00000463403.1_Intron|CCNA1_ENST00000255465.4_Missense_Mutation_p.E26K NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 26 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding p.E26K(1) breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) TCTCAGCTGGGAAGGACCGGG 0.552000 11 41 0 0 1 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42832484 42832484 + Missense_Mutation SNP G G A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr6:42832484G>A ENST00000314073.5 + 13 2716 c.2540G>A c.(2539-2541)aGt>aAt p.S847N GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S847N GLTSCR1-like CAGCATGGCAGTAAAGCAAGC 0.507000 3 149 0 0 1 0 0 BANF2 140836 broad.mit.edu 37 20 17705710 17705710 + Missense_Mutation SNP G G A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr20:17705710G>A ENST00000246090.5 + 3 302 c.40G>A c.(40-42)Gaa>Aaa p.E14K BANF2_ENST00000377805.3_Missense_Mutation_p.E14K|BANF2_ENST00000545418.2_Missense_Mutation_p.E21K NM_178477.4 NP_848572.3 Q9H503 BAFL_HUMAN barrier to autointegration factor 2 14 cytoplasm|nucleus DNA binding p.E14K(1) large_intestine(1)|lung(1)|prostate(3)|skin(1) 6 CTTCCTCTCCGAACCCATTGG 0.502000 42 161 0 0 1 0 0 TXNDC11 51061 broad.mit.edu 37 16 11785489 11785489 + Silent SNP G G A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr16:11785489G>A ENST00000356957.3 - 9 1745 c.1638C>T c.(1636-1638)ttC>ttT p.F546F TXNDC11_ENST00000283033.5_Silent_p.F519F Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 546 cell redox homeostasis endoplasmic reticulum membrane|integral to membrane p.F519F(1) endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 CAGAGTCGATGAAGCCTGACA 0.468000 98 205 0 0 1 0 0 CHRD 8646 broad.mit.edu 37 3 184104857 184104857 + Missense_Mutation SNP A A G TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr3:184104857A>G ENST00000204604.1 + 18 2555 c.2309A>G c.(2308-2310)gAc>gGc p.D770G CHRD_ENST00000348986.3_Missense_Mutation_p.D730G|CHRD_ENST00000545352.1_Missense_Mutation_p.D312G|CHRD_ENST00000450923.1_Missense_Mutation_p.D770G|EIF2B5_ENST00000444495.1_Intron NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 770 BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding p.D770G(1)|p.D483G(1) NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GATGTCAGAGACTTGCCAGGG 0.592000 20 78 0 0 1 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417468 150417468 + Missense_Mutation SNP G G T TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr7:150417468G>T ENST00000307194.5 + 3 516 c.376G>T c.(376-378)Gcc>Tcc p.A126S NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 p.A126T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCGGTTCACCGCCCAGGACCA 0.637000 3 81 0.115264 0.123616 1 1 0 ZC3HAV1 56829 broad.mit.edu 37 7 138764546 138764546 + Missense_Mutation SNP G G C TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr7:138764546G>C ENST00000242351.5 - 4 1457 c.1141C>G c.(1141-1143)Cta>Gta p.L381V ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.L381V|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.L381V NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 381 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding p.L381V(1) cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 GCGGCAGGTAGCGTGGGAGAA 0.532000 68 201 0 0 1 0 0 PANK1 53354 broad.mit.edu 37 10 91359112 91359112 + Missense_Mutation SNP A A T TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr10:91359112A>T ENST00000307534.4 - 3 1362 c.1207T>A c.(1207-1209)Tgc>Agc p.C403S PANK1_ENST00000342512.3_Missense_Mutation_p.C178S|PANK1_ENST00000371774.2_Missense_Mutation_p.C205S|PANK1_ENST00000322191.6_Missense_Mutation_p.C178S NM_148977.2 NP_683878.1 Q8TE04 PANK1_HUMAN pantothenate kinase 1 403 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity p.C403S(1) cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 11 Bezafibrate(DB01393) TTATCAAGGCAGTACGGCTTT 0.448000 38 338 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161168 90161168 + RNA SNP T T G rs8055740 TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr16:90161168T>G ENST00000567960.1 + 0 277 TUBB8P7_ENST00000564451.1_RNA CCTCCTGTCCTCCGAGTCGAG 0.622000 3 7 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25486853 25486853 + Missense_Mutation SNP T T C TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr13:25486853T>C ENST00000381884.4 - 2 496 c.311A>G c.(310-312)aAg>aGg p.K104R CENPJ_ENST00000545981.1_Missense_Mutation_p.K104R NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 104 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) CTGTGGTCCCTTTTTAATGCA 0.438000 5 306 0 0 1 0 0 ZNF728 388523 broad.mit.edu 37 19 23159308 23159308 + Missense_Mutation SNP A A T TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr19:23159308A>T ENST00000594710.1 - 4 976 c.831T>A c.(829-831)agT>agA p.S277R NM_001267716.1 NP_001254645.1 zinc finger protein 728 CTCCAGCATGACTTCTCTTAT 0.418000 4 131 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40934857 40934857 + Missense_Mutation SNP G G A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr17:40934857G>A ENST00000246914.5 + 2 721 c.700G>A c.(700-702)Gtc>Atc p.V234I NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 234 Protein kinase. intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity p.V234I(2)|p.V222I(1) NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CCCCAACATCGTCCGCTTCTA 0.602000 24 60 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105414189 105414189 + Silent SNP A A T TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr14:105414189A>T ENST00000333244.5 - 7 7718 c.7599T>A c.(7597-7599)atT>atA p.I2533I AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2533 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AAGGGGGCTGAATGCTGAGGT 0.667000 6 343 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196977769 196977769 + Missense_Mutation SNP G G A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr1:196977769G>A ENST00000367414.5 + 10 1794 c.1738G>A c.(1738-1740)Gca>Aca p.A580T CFHR5_ENST00000256785.4_Missense_Mutation_p.A556T NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 556 complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 ACCATTTCGAGCAATCTGTCA 0.363000 3 176 0 0 1 0 0 TSSK2 23617 broad.mit.edu 37 22 19119550 19119550 + Missense_Mutation SNP C C A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr22:19119550C>A ENST00000399635.2 + 1 1230 c.638C>A c.(637-639)tCc>tAc p.S213Y DGCR14_ENST00000252137.6_3'UTR NM_053006.4 NP_443732.3 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 213 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.S213Y(2) endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1) 11 Colorectal(54;0.0993) GTCTGCGGCTCCATGCCCTAT 0.592000 87 144 4.47867e-22 5.26066e-22 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168106327 168106327 + Missense_Mutation SNP G G A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr2:168106327G>A ENST00000409195.1 + 9 8514 c.8425G>A c.(8425-8427)Gga>Aga p.G2809R XIRP2_ENST00000295237.9_Missense_Mutation_p.G2809R|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2587R|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2634 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGAATTTAGCGGATCTGACAG 0.403000 4 97 0 0 1 0 0 TDO2 6999 broad.mit.edu 37 4 156835562 156835562 + Missense_Mutation SNP C C T TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr4:156835562C>T ENST00000536354.2 + 8 878 c.814C>T c.(814-816)Cgt>Tgt p.R272C NM_005651.3 NP_005642.1 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 272 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity p.R272C(1) breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) TGATGAGAAACGTCATGAACA 0.348000 17 46 0 0 1 0 0 PTPRO 5800 broad.mit.edu 37 12 15731856 15731856 + Missense_Mutation SNP C C T TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr12:15731856C>T ENST00000281171.4 + 20 3229 c.2899C>T c.(2899-2901)Cgt>Tgt p.R967C PTPRO_ENST00000442921.2_Missense_Mutation_p.R156C|PTPRO_ENST00000445537.2_Missense_Mutation_p.R156C|PTPRO_ENST00000544244.1_Missense_Mutation_p.R128C|PTPRO_ENST00000348962.2_Missense_Mutation_p.R939C|PTPRO_ENST00000542557.1_Missense_Mutation_p.R128C NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 967 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.R967C(1) NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) ATGTAAAAACCGTTACACAAA 0.393000 21 129 0 0 1 0 0 ZNF782 158431 broad.mit.edu 37 9 99580381 99580381 + Missense_Mutation SNP C C T TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr9:99580381C>T ENST00000481138.1 - 6 2585 c.1924G>A c.(1924-1926)Ggg>Agg p.G642R ZNF782_ENST00000535338.1_Missense_Mutation_p.G510R NM_001001662.1 NP_001001662.1 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 642 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G642R(1) NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) GGTTTCTCCCCGGTGTGAGTT 0.433000 7 233 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129155089 129155089 + Missense_Mutation SNP C C A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chrX:129155089C>A ENST00000540052.1 + 4 3615 c.3571C>A c.(3571-3573)Cag>Aag p.Q1191K BCORL1_ENST00000359304.2_Missense_Mutation_p.Q1191K|BCORL1_ENST00000218147.7_Missense_Mutation_p.Q1191K|BCORL1_ENST00000303743.5_Missense_Mutation_p.Q1191K NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1191 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus p.Q1191K(1) breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 GCCGGAGTCCCAGTCTCCAGG 0.622000 3 23 1 1 1 1 0 MCM6 4175 broad.mit.edu 37 2 136630397 136630397 + Nonsense_Mutation SNP C C A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr2:136630397C>A ENST00000264156.2 - 2 184 c.124G>T c.(124-126)Gga>Tga p.G42* NM_005915.5 NP_005906.2 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 42 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) TTAATTTCTCCATCGCTGCTC 0.403000 4 171 1 1 1 1 0 TAAR8 83551 broad.mit.edu 37 6 132873901 132873901 + Missense_Mutation SNP A A G TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr6:132873901A>G ENST00000275200.1 + 1 70 c.70A>G c.(70-72)Act>Gct p.T24A NM_053278.1 NP_444508.1 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 24 plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) TTGTATTGAAACTCCCTATTC 0.428000 4 309 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158617396 158617396 + Missense_Mutation SNP G G A rs143642542 by1000genomes TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr1:158617396G>A ENST00000368148.3 - 27 4009 c.3829C>T c.(3829-3831)Cgt>Tgt p.R1277C SPTA1_ENST00000368147.3_Missense_Mutation_p.R1277C NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1277 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.R1277C(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCCTTTGTACGCCCCTGCAGG 0.562000 14 208 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 36158143 36158143 + Missense_Mutation SNP G G A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr13:36158143G>A ENST00000540320.1 + 46 7678 c.7144G>A c.(7144-7146)Gca>Aca p.A2382T NBEA_ENST00000400445.3_Missense_Mutation_p.A2382T|NBEA_ENST00000379939.2_Missense_Mutation_p.A2379T|NBEA_ENST00000310336.4_Missense_Mutation_p.A2382T|NBEA_ENST00000537702.1_Missense_Mutation_p.A175T Q8NFP9 NBEA_HUMAN neurobeachin 2382 BEACH. cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TTATTCAACAGCAACATCTAC 0.363000 5 344 0 0 1 0 0 UGP2 7360 broad.mit.edu 37 2 64114692 64114692 + Missense_Mutation SNP A A T TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr2:64114692A>T ENST00000337130.5 + 8 1704 c.1228A>T c.(1228-1230)Agt>Tgt p.S410C UGP2_ENST00000467648.2_Missense_Mutation_p.S399C|UGP2_ENST00000445915.2_Missense_Mutation_p.S419C|UGP2_ENST00000394417.2_Missense_Mutation_p.S399C NM_006759.3 NP_006750.3 Q16851 UGPA_HUMAN UDP-glucose pyrophosphorylase 2 410 glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity p.S410C(1) endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1) 18 AAACCTCTATAGTCTTAATGC 0.403000 8 246 0 0 1 0 0 FYTTD1 84248 broad.mit.edu 37 3 197497068 197497068 + Silent SNP G G A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr3:197497068G>A ENST00000428395.2 + 5 610 c.177G>A c.(175-177)caG>caA p.Q59Q FYTTD1_ENST00000241502.3_Silent_p.Q150Q|FYTTD1_ENST00000424384.2_Silent_p.Q83Q|FYTTD1_ENST00000415708.2_Silent_p.Q124Q NM_001011537.2 NP_001011537.2 Q96QD9 UIF_HUMAN forty-two-three domain containing 1 150 mRNA export from nucleus nuclear speck mRNA binding|protein binding p.Q150Q(1) kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.175) ATGAAGGGCAGAGGAAACCAG 0.348000 4 21 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385748 58385748 + Missense_Mutation SNP G G A rs145250945 TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr19:58385748G>A ENST00000435989.2 - 3 1244 c.1010C>T c.(1009-1011)gCt>gTt p.A337V ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 337 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.A337V(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ACTGAAGCTAGCATATTTGCT 0.353000 5 11 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66463350 66463350 + Missense_Mutation SNP T T G TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr3:66463350T>G ENST00000383703.3 - 6 1339 c.736A>C c.(736-738)Aac>Cac p.N246H LRIG1_ENST00000273261.3_Missense_Mutation_p.N246H Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 246 integral to membrane p.N246H(2) NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TTGCTGATGTTGTTTCGCTGA 0.532000 16 60 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 5 120 0 0 1 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077003 19077003 + Missense_Mutation SNP C C A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr11:19077003C>A ENST00000329773.2 - 2 1034 c.947G>T c.(946-948)tGc>tTc p.C316F NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 316 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 CTGACGGAAGCATCCTTCACT 0.552000 4 134 0.150653 0.159262 1 1 0 USP46 64854 broad.mit.edu 37 4 53468062 53468062 + Missense_Mutation SNP C C A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr4:53468062C>A ENST00000441222.2 - 7 1065 c.881G>T c.(880-882)cGc>cTc p.R294L USP46_ENST00000508499.1_Missense_Mutation_p.R287L|USP46_ENST00000451218.2_Missense_Mutation_p.R267L NM_022832.3 NP_073743.2 P62068 UBP46_HUMAN ubiquitin specific peptidase 46 294 behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2) 12 LUSC - Lung squamous cell carcinoma(32;0.0295) GTCATACATGCGGTCCAGGTT 0.537000 3 105 0.004672 0.0052383 1 1 0 GRM5 2915 broad.mit.edu 37 11 88583140 88583140 + Missense_Mutation SNP G G A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr11:88583140G>A ENST00000418177.2 - 3 1212 c.845C>T c.(844-846)aCg>aTg p.T282M GRM5_ENST00000393297.1_Missense_Mutation_p.T282M|GRM5_ENST00000305447.4_Missense_Mutation_p.T282M|GRM5_ENST00000305432.5_Missense_Mutation_p.T282M|GRM5_ENST00000455756.2_Missense_Mutation_p.T282M P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 282 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.T282M(2) NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) ACCTCTCACCGTCATGCCCTC 0.522000 53 112 0 0 1 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115527188 115527188 + Silent SNP C C T TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr10:115527188C>T ENST00000361048.1 + 5 636 c.309C>T c.(307-309)gtC>gtT p.V103V PLEKHS1_ENST00000369310.3_Silent_p.V97V|PLEKHS1_ENST00000369312.4_Silent_p.V15V NM_024889.4 NP_079165.3 pleckstrin homology domain containing, family S member 1 p.V103V(1)|p.V15V(1) CTGATGAGGTCATGTCCATCA 0.403000 25 73 0 0 1 0 0 CYP21A1P 0 broad.mit.edu 37 6 31975463 31975463 + RNA SNP T T C TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr6:31975463T>C ENST00000342991.6 + 0 1386 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GCAGCGACTGTAGGAGGAGCT 0.657000 3 25 0 0 1 0 0 VWA3A 146177 broad.mit.edu 37 16 22120821 22120821 + Missense_Mutation SNP G G A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr16:22120821G>A ENST00000389398.5 + 7 598 c.502G>A c.(502-504)Ggg>Agg p.G168R VWA3A_ENST00000389397.4_5'UTR NM_173615.3 NP_775886.3 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 168 extracellular region p.G168R(1) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) CCTCATCAAAGGGGCCAGAGT 0.512000 9 16 0 0 1 0 0 BAZ1B 9031 broad.mit.edu 37 7 72858424 72858424 + Missense_Mutation SNP C C A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr7:72858424C>A ENST00000339594.4 - 17 4218 c.3880G>T c.(3880-3882)Gtc>Ttc p.V1294F BAZ1B_ENST00000404251.1_Missense_Mutation_p.V1294F NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 1294 ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding p.V1294I(1) NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) GGGGGGATGACGCTGTGCTTG 0.562000 5 219 0.000602214 0.00069631 1 1 0 LRRC8E 80131 broad.mit.edu 37 19 7964266 7964266 + Silent SNP A A C TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr19:7964266A>C ENST00000306708.6 + 3 960 c.859A>C c.(859-861)Agg>Cgg p.R287R AC010336.1_ENST00000539278.1_3'UTR NM_001268284.1|NM_001268285.1|NM_025061.4 NP_001255213.1|NP_001255214.1|NP_079337.2 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member E 287 integral to membrane breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10) 35 GGTGGCCTGTAGGGTGGAGAC 0.542000 3 93 0 0 1 0 0 NRP1 8829 broad.mit.edu 37 10 33469152 33469152 + Missense_Mutation SNP C C T rs142822518 by1000genomes TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr10:33469152C>T ENST00000265371.4 - 18 3149 c.2624G>A c.(2623-2625)tGt>tAt p.C875Y NRP1_ENST00000374867.2_Missense_Mutation_p.C875Y|NRP1_ENST00000395995.1_Missense_Mutation_p.C858Y O14786 NRP1_HUMAN neuropilin 1 875 axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) CACGACCCCACAGACAGCCCC 0.517000 6 335 0 0 1 0 0 LOXL3 84695 broad.mit.edu 37 2 74763166 74763166 + Missense_Mutation SNP G G A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr2:74763166G>A ENST00000264094.3 - 7 1276 c.1205C>T c.(1204-1206)gCc>gTc p.A402V LOXL3_ENST00000393937.2_Missense_Mutation_p.A257V|LOXL3_ENST00000409549.1_Missense_Mutation_p.A402V|LOXL3_ENST00000409986.1_Missense_Mutation_p.A257V|LOXL3_ENST00000409249.1_Intron NM_032603.2 NP_115992.1 P58215 LOXL3_HUMAN lysyl oxidase-like 3 402 SRCR 3. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity p.A402V(1) endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 CCGGACCCCGGCATCCTGGCT 0.552000 5 162 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 93 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144995013 144995013 + Silent SNP G G T TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr8:144995013G>T ENST00000322810.4 - 32 9556 c.9387C>A c.(9385-9387)atC>atA p.I3129I PLEC_ENST00000398774.2_Silent_p.I2960I|PLEC_ENST00000354589.3_Silent_p.I2992I|PLEC_ENST00000527096.1_Silent_p.I3015I|PLEC_ENST00000436759.2_Silent_p.I3019I|PLEC_ENST00000354958.2_Silent_p.I2970I|PLEC_ENST00000356346.3_Silent_p.I2978I|PLEC_ENST00000345136.3_Silent_p.I2992I|PLEC_ENST00000357649.2_Silent_p.I2996I NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3129 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle p.I3019I(1)|p.I3129I(1) NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCTCGCGGTCGATGACCCTGC 0.672000 3 32 0.115264 0.123616 1 1 0 NMT1 4836 broad.mit.edu 37 17 43138780 43138780 + Missense_Mutation SNP A A T TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr17:43138780A>T ENST00000592782.1 + 2 214 c.83A>T c.(82-84)gAg>gTg p.E28V NMT1_ENST00000258960.2_Missense_Mutation_p.E28V|NMT1_ENST00000590114.1_3'UTR P30419 NMT1_HUMAN N-myristoyltransferase 1 28 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity p.E28V(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 8 Prostate(33;0.155) AACGGCCATGAGCACTGCAGC 0.602000 3 36 0 0 1 0 0 PARP16 54956 broad.mit.edu 37 15 65559013 65559013 + Missense_Mutation SNP C C T TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr15:65559013C>T ENST00000261888.6 - 3 851 c.406G>A c.(406-408)Gcc>Acc p.A136T PARP16_ENST00000444347.2_Intron|PARP16_ENST00000558873.1_5'UTR NM_017851.4 NP_060321.3 Q8N5Y8 PAR16_HUMAN poly (ADP-ribose) polymerase family, member 16 136 PARP catalytic. integral to membrane NAD+ ADP-ribosyltransferase activity p.A136T(1) kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 TAAAATTTGGCGTTGGCTGGG 0.458000 4 86 0 0 1 0 0 OR5D16 390144 broad.mit.edu 37 11 55606429 55606429 + Missense_Mutation SNP C C A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr11:55606429C>A ENST00000378396.1 + 1 202 c.202C>A c.(202-204)Ctc>Atc p.L68I NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L68I(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) CCTCAACCACCTCTCCTTTGT 0.433000 77 475 3.1711e-36 3.78486e-36 1 1 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 125 0 0 1 0 0 PGAP3 93210 broad.mit.edu 37 17 37830251 37830251 + Silent SNP G G A rs147768703 byFrequency TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr17:37830251G>A ENST00000300658.4 - 5 644 c.552C>T c.(550-552)tgC>tgT p.C184C PGAP3_ENST00000429199.2_Silent_p.C163C|PGAP3_ENST00000579146.1_Intron|PGAP3_ENST00000378011.4_Silent_p.C133C NM_033419.3 NP_219487.3 Q96FM1 PGAP3_HUMAN post-GPI attachment to proteins 3 184 GPI anchor biosynthetic process Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane hydrolase activity, acting on ester bonds p.C184C(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 CTCACCTGACGCAGCACAGGT 0.587000 20 36 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41384239 41384239 + Missense_Mutation SNP T T G TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr15:41384239T>G ENST00000361937.3 - 5 947 c.523A>C c.(523-525)Agt>Cgt p.S175R INO80_ENST00000401393.3_Missense_Mutation_p.S175R Q9ULG1 INO80_HUMAN INO80 complex subunit 175 Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity p.S175R(2) NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TTGTCTTTACTATACTTATTT 0.373000 57 184 0 0 1 0 0 GABRP 2568 broad.mit.edu 37 5 170216165 170216165 + Missense_Mutation SNP A A G TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr5:170216165A>G ENST00000518525.1 + 4 550 c.86A>G c.(85-87)gAg>gGg p.E29G GABRP_ENST00000519598.1_Missense_Mutation_p.E29G|GABRP_ENST00000519385.1_Missense_Mutation_p.E29G|GABRP_ENST00000265294.4_Missense_Mutation_p.E29G O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 29 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTCAACGTCGAGGTCGGCAGA 0.473000 3 165 0 0 1 0 0 FAM50B 26240 broad.mit.edu 37 6 3850735 3850735 + Silent SNP C C T TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr6:3850735C>T ENST00000380274.1 + 1 1116 c.690C>T c.(688-690)gcC>gcT p.A230A FAM50B_ENST00000380272.3_Silent_p.A230A Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 230 nucleus p.A230A(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3) 17 Ovarian(93;0.0925) all_hematologic(90;0.108) TGCGCTCCGCCGGCGTGGAGC 0.652000 3 66 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77448986 77448986 + Missense_Mutation SNP C C A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr9:77448986C>A ENST00000451710.3 - 6 834 c.597G>T c.(595-597)ttG>ttT p.L199F TRPM6_ENST00000360774.1_Missense_Mutation_p.L199F|TRPM6_ENST00000359047.2_Missense_Mutation_p.L199F|TRPM6_ENST00000376864.4_Missense_Mutation_p.L199F|TRPM6_ENST00000449912.2_Missense_Mutation_p.L194F|TRPM6_ENST00000376871.3_Missense_Mutation_p.L199F|TRPM6_ENST00000376872.3_Missense_Mutation_p.L199F|TRPM6_ENST00000361255.3_Missense_Mutation_p.L194F Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 199 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 AGATTTTTCTCAAGGAATGAG 0.403000 4 190 0.184627 0.192428 1 1 0 SLC1A6 6511 broad.mit.edu 37 19 15067354 15067354 + Missense_Mutation SNP C C T TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr19:15067354C>T ENST00000430939.2 - 6 1040 c.911G>A c.(910-912)cGg>cAg p.R304Q SLC1A6_ENST00000600144.1_Intron|SLC1A6_ENST00000221742.3_Missense_Mutation_p.R368Q P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 368 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity p.R368Q(1) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) GAAGGGGTTCCGGTGAGTGAC 0.607000 3 59 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209212747 209212747 + Splice_Site SNP G G A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr2:209212747G>A ENST00000264380.4 + 35 5532 c.5374_splice c.e35+1 p.D1792_splice NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 1792 PIPK. cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding p.D1792N(2) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 TGAGCCTCAAGGTGTGTTAAA 0.408000 5 172 0 0 1 0 0 FEN1 2237 broad.mit.edu 37 11 61563030 61563030 + Missense_Mutation SNP G G A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr11:61563030G>A ENST00000305885.2 + 2 610 c.197G>A c.(196-198)gGc>gAc p.G66D FADS2_ENST00000574708.1_Intron NM_004111.5 NP_004102.1 P39748 FEN1_HUMAN flap structure-specific endonuclease 1 66 N-domain. base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection mitochondrion|nucleolus|nucleoplasm 5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity endometrium(1)|large_intestine(4)|lung(1)|ovary(1) 7 CACCTGATGGGCATGTTCTAC 0.542000 Editing and processing nucleases 4 118 0 0 1 0 0 HBG2 3048 broad.mit.edu 37 11 5275542 5275542 + Missense_Mutation SNP C C T TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr11:5275542C>T ENST00000380259.2 - 7 1535 c.295G>A c.(295-297)Gtg>Atg p.V99M HBG2_ENST00000336906.4_Missense_Mutation_p.V99M|HBG2_ENST00000380252.1_Missense_Mutation_p.V89M hemoglobin, gamma G p.V99M(1) endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCAGGATCCACATGCAGCTTG 0.498000 46 276 0 0 1 0 0 HCG22 0 broad.mit.edu 37 6 31023076 31023078 + RNA DEL GAG GAG - rs28359768 TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr6:31023076_31023078delGAG ENST00000426185.1 + 0 310 NR_003948.2 aaaaaaaaaaGAGAGAGAGAGAG 0.478 5 4 --- --- --- --- NKX3-1 4824 broad.mit.edu 37 8 23539135 23539135 + Frame_Shift_Del DEL A A - TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr8:23539135delA ENST00000380871.4 - 2 341 c.304delT c.(304-306)atfs p.Y102fs NKX3-1_ENST00000523261.1_Frame_Shift_Del_p.Y27fs NM_006167.3 NP_006158.2 Q99801 NKX31_HUMAN NK3 homeobox 1 102 negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter nucleus estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding large_intestine(3)|lung(4)|prostate(5)|skin(2) 14 Prostate(55;0.114) Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708) TCCAACAGATAAGACCCCAAG 0.527 55 178 --- --- --- --- ZNF395 55893 broad.mit.edu 37 8 28209153 28209154 + Frame_Shift_Ins INS - - A TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr8:28209153_28209154insA ENST00000344423.5 - 7 1222_1223 c.1091_1092insT c.(1090-1092)ctcfs p.L364fs ZNF395_ENST00000523202.1_Frame_Shift_Ins_p.L364fs|ZNF395_ENST00000523095.1_Frame_Shift_Ins_p.L364fs NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 364 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GAAGAGCAGACAGAGGCAGGCC 0.663 13 257 --- --- --- --- TCTN2 79867 broad.mit.edu 37 12 124171487 124171488 + Frame_Shift_Ins INS - - ACGAC TCGA-CH-5745-01A-11D-1576-08 TCGA-CH-5745-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51db8439-c35f-472e-baf0-8e6e22833c39 e32b30c3-6ed3-42ce-ad17-69b26146f7e4 g.chr12:124171487_124171488insACGAC ENST00000303372.5 + 6 797_798 c.669_670insACGAC c.(667-672)accgacfs p.D224fs TCTN2_ENST00000426174.2_Frame_Shift_Ins_p.D223fs NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 224 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) CTGCTGGGACGACGACACGTGG 0.525 7 798 --- --- --- ---