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 SSH2 85464 broad.mit.edu 37 17 27958126 27958126 + Silent SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr17:27958126C>T ENST00000269033.3 - 15 4156 c.4005G>A c.(4003-4005)caG>caA p.Q1335Q RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.Q1362Q NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 1335 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTGGCTTGCTCTGCACAATAC 0.507000 4 54 0 0 0.000248 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870027 151870027 + Missense_Mutation SNP C C G rs144083108 TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chrX:151870027C>G ENST00000329342.5 + 3 942 c.717C>G c.(715-717)ttC>ttG p.F239L NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 239 MAGE. protein binding p.F239L(1) breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) ACAGTATCTTCGGGGATCCCA 0.537000 10 124 0 0 0.006214 0 0 CHAMP1 283489 broad.mit.edu 37 13 115090169 115090169 + Silent SNP A A T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr13:115090169A>T ENST00000361283.1 + 3 1161 c.852A>T c.(850-852)tcA>tcT p.S284S NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 284 Mediates interaction with MAD2L2.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding CATCCCCTTCAGAGTCTCCTG 0.617000 5 73 0 0 0.001168 0 0 SPTA1 6708 broad.mit.edu 37 1 158627412 158627412 + Missense_Mutation SNP C C A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr1:158627412C>A ENST00000368148.3 - 19 2840 c.2660G>T c.(2659-2661)cGa>cTa p.R887L SPTA1_ENST00000368147.3_Missense_Mutation_p.R887L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 887 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 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) CCTAGCAGCTCGAGCACGGAG 0.473000 6 140 0.00198382 0.00249728 0.001984 1 0 ZMAT1 84460 broad.mit.edu 37 X 101138797 101138797 + Silent SNP A A G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chrX:101138797A>G ENST00000458570.1 - 9 2419 c.1089T>C c.(1087-1089)caT>caC p.H363H ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Silent_p.H534H|ZMAT1_ENST00000372782.3_Silent_p.H534H A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 363 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 GTTTCTGTTTATGACCTGCTT 0.383000 4 51 0 0 0.000602 0 0 BOLA3 388962 broad.mit.edu 37 2 74362737 74362737 + Missense_Mutation SNP A A G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr2:74362737A>G ENST00000327428.5 - 4 426 c.307T>C c.(307-309)Tct>Cct p.S103P BOLA3_ENST00000295326.4_Missense_Mutation_p.L73P NM_212552.2 NP_997717.2 Q53S33 BOLA3_HUMAN bolA family member 3 103 extracellular region large_intestine(1)|lung(1) 2 TTGGGGACAGAGGTAAATATC 0.428000 3 67 0 0 0.000602 0 0 PIWIL1 9271 broad.mit.edu 37 12 130831541 130831541 + Missense_Mutation SNP C C A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr12:130831541C>A ENST00000245255.3 + 6 859 c.587C>A c.(586-588)aCt>aAt p.T196N NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 196 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) ATAACGATCACTTTAACAAAT 0.348000 5 49 0.00116845 0.00150631 0.001168 1 0 LUZP1 7798 broad.mit.edu 37 1 23419092 23419092 + Missense_Mutation SNP C C A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr1:23419092C>A ENST00000302291.4 - 4 2464 c.1663G>T c.(1663-1665)Gct>Tct p.A555S LUZP1_ENST00000314174.5_Missense_Mutation_p.A555S|LUZP1_ENST00000374623.3_Missense_Mutation_p.A555S|LUZP1_ENST00000418342.1_Missense_Mutation_p.A555S Q86V48 LUZP1_HUMAN leucine zipper protein 1 555 nucleus NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) GAGTTTGCAGCCTGAGTTACT 0.537000 4 97 0.000602214 0.000795518 0.000602 1 0 CSMD1 64478 broad.mit.edu 37 8 4494966 4494966 + Missense_Mutation SNP C C G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr8:4494966C>G ENST00000520002.1 - 2 755 c.200G>C c.(199-201)cGc>cCc p.R67P CSMD1_ENST00000542608.1_Missense_Mutation_p.R67P|CSMD1_ENST00000539096.1_Missense_Mutation_p.R67P|CSMD1_ENST00000537824.1_Missense_Mutation_p.R67P|CSMD1_ENST00000602723.1_Missense_Mutation_p.R67P|CSMD1_ENST00000602557.1_Missense_Mutation_p.R67P|CSMD1_ENST00000400186.3_Missense_Mutation_p.R67P Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 67 CUB 1. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TATCCTATTGCGCTCGCCCGT 0.468000 4 101 0 0 0.000248 0 0 OR9A4 130075 broad.mit.edu 37 7 141618783 141618783 + Silent SNP G G A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr7:141618783G>A ENST00000548136.1 + 1 167 c.108G>A c.(106-108)gtG>gtA p.V36V MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TCTACTTGGTGACATTAATGG 0.428000 6 157 0 0 0.001984 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994645 140994645 + Silent SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chrX:140994645C>T ENST00000285879.4 + 4 1741 c.1455C>T c.(1453-1455)tcC>tcT p.S485S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 485 protein binding p.S485S(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TGAGCTCCTCCTCCTCCTCCT 0.478000 HNSCC(15;0.026) 7 126 0 0 0.001984 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43522928 43522928 + Missense_Mutation SNP C C A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr17:43522928C>A ENST00000430334.3 - 9 2878 c.2745G>T c.(2743-2745)atG>atT p.M915I PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.M826I NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 915 intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) CAATGAGGTGCATCCGCTCCA 0.612000 6 75 0.00448238 0.00551281 0.004482 1 0 ZNF658 26149 broad.mit.edu 37 9 40774387 40774387 + Missense_Mutation SNP G G C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr9:40774387G>C ENST00000602553.1 - 5 1182 c.888C>G c.(886-888)caC>caG p.H296Q ZNF658_ENST00000377626.3_Missense_Mutation_p.H296Q|ZNF658_ENST00000441795.1_Missense_Mutation_p.H294Q Q5TYW1 ZN658_HUMAN zinc finger protein 658 296 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TACACTCATAGTGTGTCATAG 0.403000 18 167 0 0 0.005443 0 0 NDUFAF3 25915 broad.mit.edu 37 3 49060398 49060398 + Missense_Mutation SNP G G T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr3:49060398G>T ENST00000326925.6 + 4 1561 c.427G>T c.(427-429)Gtg>Ttg p.V143L NDUFAF3_ENST00000395458.2_Missense_Mutation_p.V86L|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.V86L|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.V86L NM_199069.1 NP_951032.1 Q9BU61 NDUF3_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 3 143 mitochondrial respiratory chain complex I assembly mitochondrial inner membrane|nucleus protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4) 8 TGCTGTGGAAGTGCAGGACAC 0.637000 4 95 0.00024832 0.000336332 0.000248 1 0 SLC47A1 55244 broad.mit.edu 37 17 19470127 19470127 + Missense_Mutation SNP G G T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr17:19470127G>T ENST00000270570.4 + 13 1217 c.1131G>T c.(1129-1131)caG>caT p.Q377H SLC47A1_ENST00000571335.1_Missense_Mutation_p.Q182H|SLC47A1_ENST00000457293.1_Missense_Mutation_p.Q377H|SLC47A1_ENST00000395585.1_Missense_Mutation_p.Q377H|SLC47A1_ENST00000436810.2_Missense_Mutation_p.Q354H|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Intron NM_018242.2 NP_060712.2 Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 377 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) TGGTGGCTCAGGTGGTTCCAA 0.418000 5 57 0.00116845 0.00150631 0.001168 1 0 HRC 3270 broad.mit.edu 37 19 49657229 49657229 + Silent SNP G G C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr19:49657229G>C ENST00000252825.4 - 1 1452 c.1266C>G c.(1264-1266)gtC>gtG p.V422V HRC_ENST00000595625.1_Silent_p.V422V NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 422 muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) CCTCCCTGGGGACTCTGTGGT 0.537000 3 93 0 0 0.004672 0 0 NUMB 8650 broad.mit.edu 37 14 73745999 73745999 + Silent SNP G G A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr14:73745999G>A ENST00000556772.1 - 6 3085 c.798C>T c.(796-798)gcC>gcT p.A266A NUMB_ENST00000560335.1_Intron|NUMB_ENST00000356296.4_Intron|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000355058.3_Silent_p.A410A|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000555394.1_Intron|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000555238.1_Silent_p.A410A|NUMB_ENST00000554546.1_Intron|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000535282.1_Silent_p.A399A|NUMB_ENST00000557597.1_Silent_p.A399A|NUMB_ENST00000359560.3_Silent_p.A399A P49757 NUMB_HUMAN numb homolog (Drosophila) 410 axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) CCGAACATGTGGCTGCAATTT 0.527000 4 71 0 0 0.000602 0 0 DCHS2 54798 broad.mit.edu 37 4 155278384 155278384 + Missense_Mutation SNP G G C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr4:155278384G>C ENST00000357232.3 - 6 786 c.787C>G c.(787-789)Cta>Gta p.L263V DCHS2_ENST00000339452.1_Intron NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 263 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) aagtgccttagcagaggtaaa 0.398000 11 136 0 0 0.000978 0 0 PIK3CA 5290 broad.mit.edu 37 3 178947827 178947827 + Missense_Mutation SNP G G T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr3:178947827G>T ENST00000263967.3 + 19 2859 c.2702G>T c.(2701-2703)tGt>tTt p.C901F NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 901 PI3K/PI4K. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.C901F(7) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) ACACGTTCATGTGCTGGATAC 0.388000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 16 174 2.48551e-13 3.54599e-13 0.004990 1 0 SLC24A1 9187 broad.mit.edu 37 15 65936825 65936825 + Missense_Mutation SNP A A G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr15:65936825A>G ENST00000261892.6 + 5 2401 c.2114A>G c.(2113-2115)cAg>cGg p.Q705R SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000339868.6_Missense_Mutation_p.Q687R|SLC24A1_ENST00000546330.1_Missense_Mutation_p.Q687R|SLC24A1_ENST00000399033.4_Missense_Mutation_p.Q705R|SLC24A1_ENST00000537259.1_Missense_Mutation_p.Q687R|SLC24A1_ENST00000544319.2_Intron NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 705 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GCCCAACCCCAGGCCAAAGCA 0.547000 2 6 0 0 0.004672 0 0 MT1JP 4498 broad.mit.edu 37 16 56670369 56670369 + RNA SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr16:56670369C>T ENST00000564564.1 + 0 695 TGCACGTGCGCCGGCTCCTGC 0.577000 6 63 0 0 0.001168 0 0 MYH6 4624 broad.mit.edu 37 14 23863348 23863348 + Missense_Mutation SNP G G T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr14:23863348G>T ENST00000405093.3 - 21 2684 c.2614C>A c.(2614-2616)Cgc>Agc p.R872S MYH6_ENST00000356287.3_Missense_Mutation_p.R872S NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 872 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle p.R872C(1) breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) AGCTCCTTGCGGCGAGCCTCG 0.592000 9 81 1.04858e-14 1.51618e-14 0.006214 1 0 ADAM19 8728 broad.mit.edu 37 5 156934137 156934137 + Missense_Mutation SNP A A G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr5:156934137A>G ENST00000257527.4 - 10 995 c.917T>C c.(916-918)tTc>tCc p.F306S ADAM19_ENST00000517905.1_Missense_Mutation_p.F306S|ADAM19_ENST00000394020.1_Missense_Mutation_p.F308S|ADAM19_ENST00000430702.2_Missense_Mutation_p.F39S NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 306 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGTGCCGTGGAAGGACATGCC 0.617000 3 80 0 0 0.004672 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280605 105280605 + Missense_Mutation SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chrX:105280605C>T ENST00000327674.4 - 1 780 c.445G>A c.(445-447)Gat>Aat p.D149N SERPINA7_ENST00000372563.1_Missense_Mutation_p.D149N P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 149 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) GTCTTGACATCATTCAAGAAC 0.428000 6 95 0 0 0.001984 0 0 HNRNPA1L2 144983 broad.mit.edu 37 13 53217477 53217477 + Nonsense_Mutation SNP A A T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr13:53217477A>T ENST00000342657.3 + 7 1923 c.850A>T c.(850-852)Aga>Tga p.R284* HNRNPA1L2_ENST00000398039.1_Nonsense_Mutation_p.R284*|HNRNPA1L2_ENST00000357495.2_Nonsense_Mutation_p.R284* NM_001011724.1 NP_001011724.1 Q32P51 RA1L2_HUMAN heterogeneous nuclear ribonucleoprotein A1-like 2 284 Gly-rich.|Nuclear targeting sequence (By similarity). mRNA processing|mRNA transport|RNA splicing cytoplasm|spliceosomal complex nucleotide binding|RNA binding cervix(1)|large_intestine(1)|lung(5) 7 TTTTGGAGGCAGAAGCTCTGG 0.478000 5 101 0 0 0.000978 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43522926 43522926 + Missense_Mutation SNP T T G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr17:43522926T>G ENST00000430334.3 - 9 2880 c.2747A>C c.(2746-2748)cAc>cCc p.H916P PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.H827P NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 916 intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) CCCAATGAGGTGCATCCGCTC 0.617000 6 73 0 0 0.004482 0 0 RUFY2 55680 broad.mit.edu 37 10 70141060 70141060 + Missense_Mutation SNP T T C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr10:70141060T>C ENST00000388768.2 - 11 1467 c.1141A>G c.(1141-1143)Act>Gct p.T381A RUFY2_ENST00000399200.2_Missense_Mutation_p.T312A|RUFY2_ENST00000454950.2_Missense_Mutation_p.T288A|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000602465.1_Missense_Mutation_p.T346A NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 395 nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 CCTATCAGAGTATCTTGTTTC 0.363000 9 101 0 0 0.006214 0 0 SEMA3C 10512 broad.mit.edu 37 7 80546045 80546045 + Missense_Mutation SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr7:80546045C>T ENST00000265361.3 - 2 614 c.53G>A c.(52-54)tGt>tAt p.C18Y SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000536800.1_De_novo_Start_InFrame|SEMA3C_ENST00000419255.2_Missense_Mutation_p.C18Y|SEMA3C_ENST00000544525.1_Missense_Mutation_p.C36Y NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 18 immune response|response to drug membrane receptor activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TCCTTTCACACAGATAGAACA 0.348000 9 54 0 0 0.000978 0 0 CERS3 204219 broad.mit.edu 37 15 101016321 101016321 + Missense_Mutation SNP T T A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr15:101016321T>A ENST00000284382.4 - 9 1002 c.579A>T c.(577-579)ttA>ttT p.L193F CERS3_ENST00000394113.1_Missense_Mutation_p.L193F|CERS3_ENST00000538112.2_Missense_Mutation_p.L193F|CERS3_ENST00000560944.1_Intron NM_178842.3 NP_849164.2 Q8IU89 CERS3_HUMAN ceramide synthase 3 193 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity CAAGTCTAAATAACAGAGACC 0.363000 7 97 0 0 0.003080 0 0 GPR139 124274 broad.mit.edu 37 16 20043921 20043921 + Silent SNP G G C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr16:20043921G>C ENST00000570682.1 - 2 498 c.198C>G c.(196-198)ctC>ctG p.L66L NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 66 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 CGAGTGCCAAGAGATAGTTGT 0.468000 3 44 0 0 0.004672 0 0 EXTL1 2134 broad.mit.edu 37 1 26349468 26349468 + Missense_Mutation SNP C C G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr1:26349468C>G ENST00000374280.3 + 1 1198 c.331C>G c.(331-333)Cat>Gat p.H111D NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 111 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CTCTGAGACTCATCGCAGGAT 0.577000 5 58 0 0 0.000602 0 0 FAP 2191 broad.mit.edu 37 2 163039967 163039967 + Missense_Mutation SNP T T G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr2:163039967T>G ENST00000188790.4 - 21 2033 c.1826A>C c.(1825-1827)gAa>gCa p.E609A FAP_ENST00000443424.1_Missense_Mutation_p.E584A NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 609 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 GAAACCCATTTCTATGAATTT 0.284000 4 81 0 0 0.000248 0 0 CSMD3 114788 broad.mit.edu 37 8 113249436 113249436 + Missense_Mutation SNP A A T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr8:113249436A>T ENST00000297405.5 - 67 10854 c.10610T>A c.(10609-10611)aTg>aAg p.M3537K CSMD3_ENST00000455883.2_Missense_Mutation_p.M3368K|CSMD3_ENST00000343508.3_Missense_Mutation_p.M3497K|CSMD3_ENST00000352409.3_Missense_Mutation_p.M3467K NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3537 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TAGCAGCTCCATGTTGCTATT 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 94 0 0 0.000248 0 0 NID2 22795 broad.mit.edu 37 14 52508964 52508964 + Missense_Mutation SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr14:52508964C>T ENST00000216286.5 - 7 1683 c.1684G>A c.(1684-1686)Gat>Aat p.D562N NID2_ENST00000541773.1_Missense_Mutation_p.D509N NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 562 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) GCTCTGCCATCATTGCCCACG 0.597000 16 198 0 0 0.004007 0 0 SSX6 280657 broad.mit.edu 37 X 47972589 47972589 + Translation_Start_Site SNP G G A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chrX:47972589G>A ENST00000319275.3 + 0 366 SSX6_ENST00000376932.2_Silent_p.Q98Q large_intestine(6)|lung(4)|skin(2)|stomach(1) 13 AACGTCCTCAGATGACTTTTG 0.448000 9 101 0 0 0.000978 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110450456 110450456 + Missense_Mutation SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr11:110450456C>T ENST00000260283.4 - 16 3498 c.3214G>A c.(3214-3216)Gag>Aag p.E1072K ARHGAP20_ENST00000528829.1_Missense_Mutation_p.E1036K|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.E1046K|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.E1046K|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.E1049K|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.E615K|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.E1036K NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 1072 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) GGGGGTGGCTCTAAGGGTCCT 0.498000 7 159 0 0 0.004482 0 0 SHARPIN 81858 broad.mit.edu 37 8 145154650 145154650 + Silent SNP C C G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr8:145154650C>G ENST00000398712.2 - 4 1051 c.615G>C c.(613-615)ctG>ctC p.L205L SHARPIN_ENST00000533948.1_5'UTR NM_030974.3 NP_112236.3 Q9H0F6 SHRPN_HUMAN SHANK-associated RH domain interactor 205 Interaction with SHANK1 (By similarity). negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway cytosol|LUBAC complex polyubiquitin binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2) 7 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCTGAACACTCAGGGCCACAC 0.652000 3 74 0 0 0.000248 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76067930 76067930 + RNA SNP C C A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr15:76067930C>A ENST00000395215.3 + 0 37 TGGAGGTGTTCGCTGATGTGG 0.537000 5 60 3.59834e-05 4.93618e-05 0.001168 1 0 PCDHB2 56133 broad.mit.edu 37 5 140476001 140476001 + Silent SNP T T C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr5:140476001T>C ENST00000194155.4 + 1 1775 c.1627T>C c.(1627-1629)Ttg>Ctg p.L543L NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 543 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCCCCGGCGTTGAGCAGCGA 0.706000 6 89 0 0 0.004482 0 0 RIMS1 22999 broad.mit.edu 37 6 72968708 72968708 + Missense_Mutation SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr6:72968708C>T ENST00000264839.7 + 18 2947 c.2947C>T c.(2947-2949)Cca>Tca p.P983S RIMS1_ENST00000518273.1_Missense_Mutation_p.P983S|RIMS1_ENST00000523963.1_Missense_Mutation_p.P457S|RIMS1_ENST00000491071.2_Missense_Mutation_p.P983S|RIMS1_ENST00000517960.1_Missense_Mutation_p.P982S|RIMS1_ENST00000517827.1_Missense_Mutation_p.P442S|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000425662.2_Missense_Mutation_p.P376S|RIMS1_ENST00000522291.1_Missense_Mutation_p.P982S|RIMS1_ENST00000401910.3_Missense_Mutation_p.P456S|RIMS1_ENST00000348717.5_Missense_Mutation_p.P982S|RIMS1_ENST00000521978.1_Missense_Mutation_p.P983S|RIMS1_ENST00000520567.1_Missense_Mutation_p.P982S Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 983 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) TGAAATTCATCCAACAAGAAG 0.388000 6 90 0 0 0.001168 0 0 LPPR1 54886 broad.mit.edu 37 9 104075140 104075140 + Missense_Mutation SNP C C A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr9:104075140C>A ENST00000374874.3 + 6 1136 c.697C>A c.(697-699)Ctc>Atc p.L233I LPPR1_ENST00000395056.2_Missense_Mutation_p.L233I NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 233 integral to membrane catalytic activity GGTGCTGTGCCTCGGAACTCT 0.567000 10 94 0.00136819 0.00174282 0.001368 1 0 PCDHGA4 56111 broad.mit.edu 37 5 140734835 140734835 + Missense_Mutation SNP T T C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr5:140734835T>C ENST00000571252.1 + 1 68 c.68T>C c.(67-69)cTg>cCg p.L23P PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGGGGTTCTGGTGGAAATC 0.637000 6 73 0 0 0.001168 0 0 ATP5G3 518 broad.mit.edu 37 2 176043850 176043850 + Silent SNP T T C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr2:176043850T>C ENST00000284727.4 - 4 3273 c.249A>G c.(247-249)gtA>gtG p.V83V ATP5G3_ENST00000392541.3_Silent_p.V83V|ATP5G3_ENST00000409194.1_Silent_p.V83V NM_001002258.4|NM_001689.4 NP_001002258.1|NP_001680.1 P48201 AT5G3_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9) 83 ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|lipid binding|protein binding large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.147) CAGCCACTCCTACTGTTGCAG 0.443000 3 67 0 0 0.004672 0 0 USP53 54532 broad.mit.edu 37 4 120169908 120169908 + Missense_Mutation SNP A A G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr4:120169908A>G ENST00000450251.1 + 3 787 c.243A>G c.(241-243)atA>atG p.I81M USP53_ENST00000274030.6_Missense_Mutation_p.I81M Q70EK8 UBP53_HUMAN ubiquitin specific peptidase 53 81 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 CCCAGACGATATTTGCACAGT 0.378000 4 49 0 0 0.000248 0 0 HUWE1 10075 broad.mit.edu 37 X 53571698 53571698 + Missense_Mutation SNP T T G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chrX:53571698T>G ENST00000342160.3 - 71 11531 c.11074A>C c.(11074-11076)Att>Ctt p.I3692L HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.I3692L Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3692 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GATGCCACAATTACCACATTC 0.483000 4 39 0 0 0.000248 0 0 PXDNL 137902 broad.mit.edu 37 8 52320759 52320759 + Missense_Mutation SNP A A G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr8:52320759A>G ENST00000356297.4 - 17 3525 c.3425T>C c.(3424-3426)aTt>aCt p.I1142T PXDNL_ENST00000543296.1_Missense_Mutation_p.I1142T NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1142 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) ACCCCTTTGAATGATGGTGGC 0.493000 5 122 0 0 0.001984 0 0 CASKIN2 57513 broad.mit.edu 37 17 73499583 73499583 + Missense_Mutation SNP G G T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr17:73499583G>T ENST00000321617.3 - 17 2292 c.1706C>A c.(1705-1707)gCa>gAa p.A569E CASKIN2_ENST00000433559.2_Missense_Mutation_p.A487E NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 569 SAM 2. cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CAGCCCCAGTGCACACAGCCA 0.642000 4 41 1.024e-07 1.44168e-07 0.000602 1 0 CSMD3 114788 broad.mit.edu 37 8 113662433 113662433 + Nonsense_Mutation SNP G G T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr8:113662433G>T ENST00000297405.5 - 19 3394 c.3150C>A c.(3148-3150)tgC>tgA p.C1050* CSMD3_ENST00000455883.2_Nonsense_Mutation_p.C946*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.C1010*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.C1050* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1050 Sushi 5. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GGTTTTTTTCGCATAGAAGGG 0.393000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 90 0.000602214 0.000795518 0.000602 1 0 RFXAP 5994 broad.mit.edu 37 13 37399599 37399599 + Missense_Mutation SNP A A C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr13:37399599A>C ENST00000255476.2 + 2 769 c.635A>C c.(634-636)cAa>cCa p.Q212P RFXAP_ENST00000472888.1_3'UTR NM_000538.3 NP_000529.1 O00287 RFXAP_HUMAN regulatory factor X-associated protein 212 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1) 4 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405) ATTGTTAAACAAAGAACAGGA 0.318000 4 81 0 0 0.000602 0 0 SENP5 205564 broad.mit.edu 37 3 196612189 196612189 + Missense_Mutation SNP G G A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr3:196612189G>A ENST00000323460.5 + 2 386 c.137G>A c.(136-138)aGg>aAg p.R46K SENP5_ENST00000445299.2_Missense_Mutation_p.R46K|SENP5_ENST00000419026.1_Intron NM_152699.4 NP_689912.2 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 46 cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1) 32 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) AAGCTGGGAAGGCCAGTTACT 0.413000 4 46 0 0 0.000602 0 0 ALPK2 115701 broad.mit.edu 37 18 56203268 56203268 + Missense_Mutation SNP T T C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr18:56203268T>C ENST00000361673.3 - 5 4364 c.4151A>G c.(4150-4152)gAt>gGt p.D1384G RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1384 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 GGCAGTGTGATCCATCTTGAG 0.428000 4 118 0 0 0.001984 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55048220 55048220 + Missense_Mutation SNP G G C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr19:55048220G>C ENST00000335056.3 + 5 825 c.787G>C c.(787-789)Gga>Cga p.G263R KIR3DX1_ENST00000482404.1_3'UTR endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) GGTTGCTCATGGACAGTGGCT 0.557000 4 94 0 0 0.000602 0 0 CD8A 925 broad.mit.edu 37 2 87013080 87013080 + Nonsense_Mutation SNP G G T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr2:87013080G>T ENST00000409511.2 - 9 1701 c.671C>A c.(670-672)tCg>tAg p.S224* CD8A_ENST00000456996.2_Nonsense_Mutation_p.S187*|CD8A_ENST00000283635.3_Nonsense_Mutation_p.S224*|CD8A_ENST00000352580.3_Nonsense_Mutation_p.S187*|CD8A_ENST00000538832.1_Nonsense_Mutation_p.S265*|CD8A_ENST00000409781.1_Nonsense_Mutation_p.S187* NM_001145873.1 NP_001139345.1 P01732 CD8A_HUMAN CD8a molecule 224 antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 8 CTTGTCTCCCGATTTGACCAC 0.547000 7 163 5.18039e-06 7.19873e-06 0.003080 1 0 ATF6 22926 broad.mit.edu 37 1 161928411 161928411 + Missense_Mutation SNP C C G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr1:161928411C>G ENST00000367942.3 + 16 2047 c.1980C>G c.(1978-1980)caC>caG p.H660Q NM_007348.3 NP_031374.2 P18850 ATF6A_HUMAN activating transcription factor 6 660 positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1) 34 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) AGGCAACCCACGTTGTCAGCA 0.522000 5 112 0 0 0.000602 0 0 THEG 51298 broad.mit.edu 37 19 371324 371324 + Splice_Site SNP T T A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr19:371324T>A ENST00000342640.4 - 6 678 c.e6-2 THEG_ENST00000346878.2_Splice_Site NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGTCGTCCTGGGGGAGGTC 0.582000 6 163 0 0 0.004482 0 0 RYR2 6262 broad.mit.edu 37 1 237777923 237777923 + Missense_Mutation SNP G G C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr1:237777923G>C ENST00000366574.2 + 37 5812 c.5495G>C c.(5494-5496)gGc>gCc p.G1832A RYR2_ENST00000360064.6_Missense_Mutation_p.G1830A|RYR2_ENST00000542537.1_Missense_Mutation_p.G1816A NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1832 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTGATCATGGGCATCTTTCAC 0.502000 5 160 0 0 0.001168 0 0 DNAH14 127602 broad.mit.edu 37 1 225155247 225155247 + Missense_Mutation SNP A A G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr1:225155247A>G ENST00000430092.1 + 6 828 c.613A>G c.(613-615)Aaa>Gaa p.K205E DNAH14_ENST00000439375.2_Missense_Mutation_p.K205E|DNAH14_ENST00000366850.3_Missense_Mutation_p.K205E|DNAH14_ENST00000366848.1_Missense_Mutation_p.K205E|DNAH14_ENST00000400952.3_Missense_Mutation_p.K205E|DNAH14_ENST00000366849.1_Intron NM_001373.1 NP_001364.1 Q0VDD8 DYH14_HUMAN dynein, axonemal, heavy chain 14 332 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1) 27 TAAACATTGCAAAGAATTTTG 0.323000 7 71 0 0 0.001984 0 0 NPTX2 4885 broad.mit.edu 37 7 98254269 98254269 + Missense_Mutation SNP G G C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr7:98254269G>C ENST00000265634.3 + 3 844 c.679G>C c.(679-681)Gtg>Ctg p.V227L NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 227 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) TGCGTTCAAGGTGTCCCTCCC 0.607000 19 226 0 0 0.007413 0 0 STXBP2 6813 broad.mit.edu 37 19 7709561 7709561 + Missense_Mutation SNP T T C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr19:7709561T>C ENST00000441779.2 + 14 1239 c.1202T>C c.(1201-1203)gTt>gCt p.V401A STXBP2_ENST00000414284.2_Missense_Mutation_p.V387A|STXBP2_ENST00000221283.5_Missense_Mutation_p.V390A NM_001272034.1 NP_001258963.1 Q15833 STXB2_HUMAN syntaxin binding protein 2 390 leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule syntaxin-3 binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 23 AAGCTGATCGTTCCGGTGCTG 0.652000 4 53 0 0 0.000248 0 0 SLC6A14 11254 broad.mit.edu 37 X 115582641 115582641 + Missense_Mutation SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chrX:115582641C>T ENST00000371900.4 + 8 1053 c.965C>T c.(964-966)tCc>tTc p.S322F NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 322 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) ATATTTTACTCCCTTTCAGTG 0.318000 5 46 0 0 0.001168 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 4 38 0 0 0.000248 0 0 DENND2D 79961 broad.mit.edu 37 1 111742266 111742266 + Missense_Mutation SNP T T C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr1:111742266T>C ENST00000357640.4 - 2 451 c.222A>G c.(220-222)atA>atG p.I74M DENND2D_ENST00000369752.5_Missense_Mutation_p.I71M|DENND2D_ENST00000473682.1_5'UTR NM_024901.3 NP_079177.2 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D 74 UDENN. breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) GGTAGGTGATTATAGGCTCGT 0.522000 11 156 0 0 0.008291 0 0 FREM2 341640 broad.mit.edu 37 13 39358893 39358893 + Silent SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr13:39358893C>T ENST00000280481.7 + 6 6183 c.5967C>T c.(5965-5967)atC>atT p.I1989I NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1989 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GGGGAAGAATCGGATCAGAGT 0.448000 4 39 0 0 0.000248 0 0 OR2L8 391190 broad.mit.edu 37 1 248112599 248112599 + Missense_Mutation SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr1:248112599C>T ENST00000357191.3 + 1 440 c.440C>T c.(439-441)tCt>tTt p.S147F OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ATAACAGGGTCTTGGATCATA 0.438000 8 167 0 0 0.008291 0 0 PDE1C 5137 broad.mit.edu 37 7 31862847 31862847 + Silent SNP G G A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr7:31862847G>A ENST00000396184.3 - 15 1626 c.1422C>T c.(1420-1422)agC>agT p.S474S PDE1C_ENST00000396191.1_Silent_p.S474S|PDE1C_ENST00000321453.7_Silent_p.S474S|PDE1C_ENST00000396193.1_Silent_p.S534S|PDE1C_ENST00000396182.2_Silent_p.S474S NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 474 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CATCTGACGAGCTGATGCTAT 0.438000 4 54 0 0 0.000248 0 0 GBP4 115361 broad.mit.edu 37 1 89655859 89655859 + Missense_Mutation SNP C C G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr1:89655859C>G ENST00000355754.6 - 7 1156 c.1059G>C c.(1057-1059)atG>atC p.M353I NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 353 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) GTTGCTGGGCCATCTGCTGGC 0.602000 4 57 0 0 0.000248 0 0 TTN 7273 broad.mit.edu 37 2 179399269 179399269 + Missense_Mutation SNP C C G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr2:179399269C>G ENST00000589042.1 - 358 102297 c.102073G>C c.(102073-102075)Gag>Cag p.E34025Q TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25085Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32384Q|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31457Q|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25152Q|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24960Q|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000450692.2_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32384 Ig-like 150. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGATATTCTCAATGATCTGT 0.413000 3 103 0 0 0.004672 0 0 IGHV3-16 28447 broad.mit.edu 37 14 106622313 106622313 + RNA SNP A A T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr14:106622313A>T ENST00000390604.2 - 0 106 TTAAAATACCAGCAAGAAAAA 0.448000 7 109 0 0 0.003080 0 0 RAB33B 83452 broad.mit.edu 37 4 140394046 140394046 + Missense_Mutation SNP G G C TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr4:140394046G>C ENST00000305626.5 + 2 845 c.456G>C c.(454-456)ttG>ttC p.L152F NM_031296.1 NP_112586.1 Q9H082 RB33B_HUMAN RAB33B, member RAS oncogene family 152 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 4 all_hematologic(180;0.162) AATGTGACTTGAGAAGTGCCA 0.398000 4 126 0 0 0.000248 0 0 FGF7 2252 broad.mit.edu 37 15 49776562 49776562 + Missense_Mutation SNP A A G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr15:49776562A>G ENST00000267843.4 + 4 1057 c.446A>G c.(445-447)aAc>aGc p.N149S FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron NM_002009.3 NP_002000.1 P21781 FGF7_HUMAN fibroblast growth factor 7 149 actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth chemoattractant activity|growth factor activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_lung(180;0.00391) all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05) Palifermin(DB00039) AACCATTACAACACATATGCA 0.328000 3 47 0 0 0.004672 0 0 CPOX 1371 broad.mit.edu 37 3 98304334 98304334 + Missense_Mutation SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr3:98304334C>T ENST00000264193.2 - 5 1341 c.1123G>A c.(1123-1125)Gac>Aac p.D375N NM_000097.5 NP_000088.3 P36551 HEM6_HUMAN coproporphyrinogen oxidase 375 mitochondrial intermembrane space coproporphyrinogen oxidase activity|protein homodimerization activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 GTGAATGAGTCATCACAGTGC 0.517000 7 234 0 0 0.001984 0 0 FCN1 2219 broad.mit.edu 37 9 137801651 137801651 + Missense_Mutation SNP G G T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr9:137801651G>T ENST00000371806.3 - 9 1065 c.974C>A c.(973-975)cCc>cAc p.P325H NM_002003.3 NP_001994.2 O00602 FCN1_HUMAN ficolin (collagen/fibrinogen domain containing) 1 325 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) CGTCTAGGCGGGCCGCACCTT 0.592000 8 73 0.00307968 0.00383169 0.003080 1 0 THSD7B 80731 broad.mit.edu 37 2 137928343 137928343 + Missense_Mutation SNP G G A TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr2:137928343G>A ENST00000409968.1 + 7 1736 c.1558G>A c.(1558-1560)Gaa>Aaa p.E520K THSD7B_ENST00000413152.2_Missense_Mutation_p.E489K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000272643.3_Missense_Mutation_p.E520K thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TGTCCTCATGGAATCTACAGG 0.473000 4 60 0 0 0.000602 0 0 TRIM58 25893 broad.mit.edu 37 1 248023998 248023998 + Missense_Mutation SNP A A G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr1:248023998A>G ENST00000366481.3 + 2 548 c.500A>G c.(499-501)aAg>aGg p.K167R NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 167 intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GTGGGGAAAAAGACTGTCATT 0.478000 5 72 0 0 0.001168 0 0 GRIN3A 116443 broad.mit.edu 37 9 104448991 104448991 + Silent SNP T T G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr9:104448991T>G ENST00000361820.3 - 2 1791 c.1191A>C c.(1189-1191)gcA>gcC p.A397A NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 397 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CTACAGCTCTTGCGACCAGCT 0.498000 14 69 0 0 0.001855 0 0 PARD3 56288 broad.mit.edu 37 10 34673066 34673066 + Missense_Mutation SNP C C T TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr10:34673066C>T ENST00000374789.3 - 8 1332 c.1007G>A c.(1006-1008)aGa>aAa p.R336K PARD3_ENST00000340077.5_Missense_Mutation_p.R336K|PARD3_ENST00000374773.1_Missense_Mutation_p.R336K|PARD3_ENST00000545693.1_Missense_Mutation_p.R336K|PARD3_ENST00000374776.1_Missense_Mutation_p.R336K|PARD3_ENST00000374788.3_Missense_Mutation_p.R336K|PARD3_ENST00000545260.1_Missense_Mutation_p.R292K|PARD3_ENST00000544292.1_Missense_Mutation_p.R66K|PARD3_ENST00000374790.3_Missense_Mutation_p.R292K|PARD3_ENST00000374794.3_Missense_Mutation_p.R292K|PARD3_ENST00000350537.4_Missense_Mutation_p.R336K|PARD3_ENST00000346874.4_Missense_Mutation_p.R336K NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 336 PDZ 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) CTGTTCAAATCTTCTATTTCG 0.398000 4 60 0 0 0.001168 0 0 SOGA3 387104 broad.mit.edu 37 6 127796926 127796926 + Frame_Shift_Del DEL G G - TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr6:127796926delG ENST00000556132.1 - 6 3109 c.2245delC c.(2245-2247)gcfs p.R749fs SOGA3_ENST00000481848.2_Frame_Shift_Del_p.R749fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.R749fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.R749fs|SOGA3_ENST00000525778.1_Frame_Shift_Del_p.R749fs NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 749 integral to membrane TCGCTGTCGCGGGGGCTGCCG 0.692 9 165 --- --- --- --- SP8 221833 broad.mit.edu 37 7 20824941 20824943 + In_Frame_Del DEL GCC GCC - TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr7:20824941_20824943delGCC ENST00000361443.4 - 3 676_678 c.439_441delGGC c.(439-441)del p.G147del SP8_ENST00000418710.2_In_Frame_Del_p.G165del NM_198956.2 NP_945194.1 Q8IXZ3 SP8_HUMAN Sp8 transcription factor 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G165delG(1)|p.G147delG(1) NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 8 GCGCGGAGGAgccgccgccgccg 0.729 7 10 --- --- --- --- DRGX 644168 broad.mit.edu 37 10 50574313 50574313 + Frame_Shift_Del DEL G G - TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr10:50574313delG ENST00000374139.2 - 6 650 c.640delC c.(640-642)gcfs p.R214fs DRGX_ENST00000434016.1_Frame_Shift_Del_p.R219fs C9JW76 C9JW76_HUMAN dorsal root ganglia homeobox 219 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 GAGTGCTCGCGGGCCTTCATG 0.672 11 111 --- --- --- --- LMTK3 114783 broad.mit.edu 37 19 49014769 49014769 + Frame_Shift_Del DEL G G - TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx b658aa3f-0812-4812-8254-816d9a4d7c04 99a009ec-e31a-4a1a-bce5-d8027db9eaaa g.chr19:49014769delG ENST00000600059.1 - 1 292 c.65delC c.(64-66)cgfs p.P22fs LMTK3_ENST00000270238.3_Frame_Shift_Del_p.P51fs lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) GGGGTGGGCCGGGGACGCCAG 0.741 2 4 --- --- --- ---