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 SARDH 1757 broad.mit.edu 37 9 136529067 136529067 + Missense_Mutation SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr9:136529067C>T uc004cep.4 - 20 2835 c.2701G>A c.(2701-2703)Gct>Act p.A901T SARDH_uc004ceo.3_Missense_Mutation_p.A901T|SARDH_uc011mdo.2_Missense_Mutation_p.A733T|SARDH_uc011mdn.2_Missense_Mutation_p.A901T|SARDH_uc004cen.3_Missense_Mutation_p.A351T NM_001134707 NP_009032 Q9UL12 SARDH_HUMAN Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 901 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) TTCAGGTGAGCCTGGGCACCA 0.577000 7 140 0 0 1 0 0 RPRD1A 55197 broad.mit.edu 37 18 33606928 33606928 + Nonsense_Mutation SNP G G A TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr18:33606928G>A uc002kzg.3 - 5 730 c.724C>T c.(724-726)Cga>Tga p.R242* RPRD1A_uc002kze.1_Nonsense_Mutation_p.R206*|RPRD1A_uc010dmw.3_Nonsense_Mutation_p.R206*|RPRD1A_uc010dmx.3_Nonsense_Mutation_p.R242* NM_018170 NP_060640 Q96P16 RPR1A_HUMAN Homo sapiens regulation of nuclear pre-mRNA domain containing 1A (RPRD1A), mRNA. 242 p.R242R(2) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2) 12 GCTAACATTCGAGTGAGTTGC 0.403000 6 98 0 0 1 0 0 TGDS 23483 broad.mit.edu 37 13 95248340 95248340 + Silent SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr13:95248340C>T uc001vlw.3 - 0 172 c.51G>A c.(49-51)gcG>gcA p.A17A NM_014305 NP_055120 O95455 TGDS_HUMAN Homo sapiens TDP-glucose 4,6-dehydratase (TGDS), mRNA. 17 cellular metabolic process coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 all_neural(89;0.0684)|Medulloblastoma(90;0.163) GGACCCGCTTCGCAAAGCCGC 0.607000 23 25 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11333436 11333436 + Missense_Mutation SNP G G C TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr19:11333436G>C uc002mqs.4 - 25 3256 c.3215C>G c.(3214-3216)cCc>cGc p.P1072R DOCK6_uc010xlq.2_Missense_Mutation_p.P411R NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA. 1072 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 GGACACAGAGGGGGAGGGCGA 0.612000 3 3 0 0 1 0 0 FBXO18 84893 broad.mit.edu 37 10 5948520 5948520 + Silent SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr10:5948520C>T uc001iit.3 + 3 935 c.831C>T c.(829-831)ttC>ttT p.F277F FBXO18_uc001iir.3_Silent_p.F152F|FBXO18_uc001iis.3_Silent_p.F226F|FBXO18_uc009xig.3_Silent_p.F152F NM_032807 NP_835363 Q8NFZ0 FBX18_HUMAN Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA. 226 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 TGTTTGCCTTCCTCCCGGTGG 0.572000 7 142 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12637690 12637690 + Missense_Mutation SNP T T A TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr19:12637690T>A uc002mty.3 - 3 1442 c.1232A>T c.(1231-1233)cAc>cTc p.H411L ZNF709_uc002mtx.4_Intron NM_144976 NP_659413 Q8N972 ZN709_HUMAN Homo sapiens zinc finger protein 564 (ZNF564), mRNA. 466 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 AGTTCTTTCGTGTATTTGAAA 0.408000 26 246 0 0 1 0 0 POMT2 29954 broad.mit.edu 37 14 77778315 77778315 + Missense_Mutation SNP C C G TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr14:77778315C>G uc001xti.2 - 1 511 c.310G>C c.(310-312)Gat>Cat p.D104H POMT2_uc010asr.2_Intron NM_013382 NP_037514 Q9UKY4 POMT2_HUMAN Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA. 104 protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) GGGTGCACATCAAAGAAAAAT 0.433000 15 41 0 0 1 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209933458 209933458 + Missense_Mutation SNP G G C TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr1:209933458G>C uc001hho.3 + 2 494 c.74G>C c.(73-75)cGc>cCc p.R25P TRAF3IP3_uc001hhm.2_Missense_Mutation_p.R25P|TRAF3IP3_uc001hhn.3_Missense_Mutation_p.R25P|TRAF3IP3_uc009xcr.3_Missense_Mutation_p.R25P NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA. 25 integral to membrane protein binding p.R25C(1) breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) AAGTGTGAGCGCAGGCAAGAG 0.627000 4 49 0 0 1 0 0 POMT2 29954 broad.mit.edu 37 14 77778367 77778367 + Silent SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr14:77778367C>T uc001xti.2 - 1 459 c.258G>A c.(256-258)gaG>gaA p.E86E POMT2_uc010asr.2_Intron NM_013382 NP_037514 Q9UKY4 POMT2_HUMAN Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA. 86 protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) CAAAGTGAGTCTCATCCCAAC 0.373000 20 36 0 0 1 0 0 TDRD7 23424 broad.mit.edu 37 9 100245294 100245294 + Missense_Mutation SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr9:100245294C>T uc004axj.3 + 14 2801 c.2576C>T c.(2575-2577)tCt>tTt p.S859F TDRD7_uc011lux.2_Missense_Mutation_p.S785F|TDRD7_uc010msp.1_Missense_Mutation_p.S111F|TDRD7_uc011luy.2_Missense_Mutation_p.S179F NM_014290 NP_055105 Q8NHU6 TDRD7_HUMAN Homo sapiens tudor domain containing 7 (TDRD7), mRNA. 859 lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) GGAGCTGACTCTCCCAACAGC 0.463000 40 51 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64967027 64967027 + Nonsense_Mutation SNP G G A TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr10:64967027G>A uc001jmn.3 - 9 4702 c.4402C>T c.(4402-4404)Caa>Taa p.Q1468* JMJD1C_uc001jml.3_Nonsense_Mutation_p.Q1249*|JMJD1C_uc001jmm.3_Nonsense_Mutation_p.Q1180*|JMJD1C_uc010qiq.2_Nonsense_Mutation_p.Q1286*|JMJD1C_uc009xpi.3_Nonsense_Mutation_p.Q1286*|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Nonsense_Mutation_p.Q505* NM_032776 NP_116165 Q15652 JHD2C_HUMAN Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA. 1468 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) GAACTGGGTTGAACAACACTT 0.433000 76 98 0 0 1 0 0 ZFAND5 7763 broad.mit.edu 37 9 74971943 74971943 + Nonsense_Mutation SNP G G A TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr9:74971943G>A uc010moy.1 - 4 678 c.397C>T c.(397-399)Cag>Tag p.Q133* ZFAND5_uc010mox.1_Nonsense_Mutation_p.Q30*|ZFAND5_uc004aix.2_Nonsense_Mutation_p.Q133*|ZFAND5_uc004aiw.2_Nonsense_Mutation_p.Q133*|ZFAND5_uc004aiy.2_Nonsense_Mutation_p.Q133* NM_006007 NP_005998 O76080 ZFAN5_HUMAN Homo sapiens zinc finger, AN1-type domain 5 (ZFAND5), transcript variant c, mRNA. 133 DNA binding|zinc ion binding p.Q133*(2)|p.Q133Q(1) cervix(1)|kidney(2)|lung(2)|prostate(1) 6 GTACTGGGCTGAGAAACTGAT 0.383000 35 51 0 0 1 0 0 RIOK2 55781 broad.mit.edu 37 5 96498929 96498929 + Splice_Site SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr5:96498929C>T uc003kmz.3 - 10 1605 c.1495_splice c.e10-1 p.E499_splice NM_018343 NP_060813 Q9BVS4 RIOK2_HUMAN Homo sapiens RIO kinase 2 (yeast) (RIOK2), transcript variant 1, mRNA. 499 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) TTCACCAGTTCCTGGAAAGAT 0.328000 39 49 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 26107935 26107935 + Silent SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr15:26107935C>T uc010ayu.3 - 0 415 c.309G>A c.(307-309)gtG>gtA p.V103V ATP10A_uc001zax.3_Non-coding_Transcript NM_024490 NP_077816 O60312 AT10A_HUMAN Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA. 103 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GGAAGGCGTTCACCGCCGGCA 0.652000 6 14 0 0 1 0 0 MOS 4342 broad.mit.edu 37 8 57026479 57026479 + Silent SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr8:57026479C>T uc011leb.2 - 0 63 c.63G>A c.(61-63)gcG>gcA p.A21A NM_005372 NP_005363 P00540 MOS_HUMAN Homo sapiens v-mos Moloney murine sarcoma viral oncogene homolog (MOS), mRNA. 21 ATP binding|protein binding|protein serine/threonine kinase activity p.A21A(2) breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2) 22 Epithelial(17;0.00117)|all cancers(17;0.00879) TGCAGGGCCGCGCGTCCACCG 0.706000 23 36 0 0 1 0 0 LPAR6 10161 broad.mit.edu 37 13 48985608 48985608 + Missense_Mutation SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr13:48985608C>T uc010acu.3 - 0 2046 c.952G>A c.(952-954)Gaa>Aaa p.E318K RB1_uc001vcb.3_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.3_Missense_Mutation_p.E318K|LPAR6_uc001vcf.3_Missense_Mutation_p.E318K NM_001162498 NP_005758 P43657 LPAR6_HUMAN Homo sapiens lysophosphatidic acid receptor 6 (LPAR6), transcript variant 3, mRNA. 318 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.0?(15)|p.?(4) NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 14 CCATGAACTTCAGAGAATCTG 0.343000 66 87 0 0 1 0 0 LMAN2L 81562 broad.mit.edu 37 2 97405604 97405604 + Silent SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr2:97405604C>T uc002swv.3 - 0 210 c.174G>A c.(172-174)tcG>tcA p.S58S LMAN2L_uc002swu.3_Silent_p.S58S|LMAN2L_uc010yuu.2_5'UTR|LMAN2L_uc010yut.2_5'UTR|LMAN2L_uc010yuv.2_5'UTR|LMAN2L_uc010yuw.2_5'UTR|LMAN2L_uc010yux.2_5'UTR NM_001142292 NP_001135764 Q9H0V9 LMA2L_HUMAN Homo sapiens lectin, mannose-binding 2-like (LMAN2L), transcript variant 1, mRNA. 58 L-type lectin-like. ER to Golgi vesicle-mediated transport|protein folding|protein transport ER to Golgi transport vesicle|Golgi membrane|endoplasmic reticulum membrane|integral to membrane mannose binding|metal ion binding NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1) 7 GGTAGGGCTTCGACAGCGAGT 0.627000 33 51 0 0 1 0 0 FAM84A 151354 broad.mit.edu 37 2 14774447 14774447 + Missense_Mutation SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr2:14774447C>T uc002rbz.2 + 1 632 c.344C>T c.(343-345)gCg>gTg p.A115V FAM84A_uc021ved.1_Missense_Mutation_p.A115V|AX747684_uc002rca.1_5'Flank NM_145175 NP_660158 Q96KN4 FA84A_HUMAN Homo sapiens family with sequence similarity 84, member A (FAM84A), mRNA. 115 endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(1;0.00969) GCGGTCACCGCGCTGCCAGCG 0.692000 5 14 0 0 1 0 0 OVGP1 5016 broad.mit.edu 37 1 111965622 111965622 + Missense_Mutation SNP G G C TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr1:111965622G>C uc001eba.3 - 5 591 c.535C>G c.(535-537)Ctg>Gtg p.L179V OVGP1_uc001eaz.3_Missense_Mutation_p.L141V|OVGP1_uc010owb.2_5'UTR NM_002557 NP_002548 Q12889 OVGP1_HUMAN Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA. 179 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) GACAGCAGCAGCCTCGGGCGC 0.542000 110 106 0 0 1 0 0 O3FAR1 338557 broad.mit.edu 37 10 95326832 95326832 + Missense_Mutation SNP A A G TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr10:95326832A>G uc010qnt.2 + 0 411 c.355A>G c.(355-357)Acc>Gcc p.T119A O3FAR1_uc010qnu.2_Missense_Mutation_p.T119A NM_181745 NP_859529 Q5NUL3 O3FA1_HUMAN Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA. 119 negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport integral to membrane|plasma membrane fatty acid binding breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2) 12 CTACGTGATGACCCTGAGCGG 0.687000 18 24 0 0 1 0 0 SPIB 6689 broad.mit.edu 37 19 50931366 50931366 + Missense_Mutation SNP G G A TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr19:50931366G>A uc002psd.3 + 5 587 c.562G>A c.(562-564)Gtg>Atg p.V188M SPIB_uc021uyc.1_Missense_Mutation_p.V157M|SPIB_uc002pse.3_3'UTR|SPIB_uc010ycc.2_Missense_Mutation_p.V97M NM_003121 NP_003112 Q01892 SPIB_HUMAN Homo sapiens Spi-B transcription factor (Spi-1/PU.1 related) (SPIB), transcript variant 1, mRNA. 188 regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8) 14 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) GCGTGAGTGCGTGTGGTGGGT 0.682000 3 3 0 0 1 0 0 VAPA 9218 broad.mit.edu 37 18 9950521 9950521 + Nonsense_Mutation SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr18:9950521C>T uc002koj.3 + 5 981 c.682C>T c.(682-684)Cag>Tag p.Q228* VAPA_uc002kok.3_Nonsense_Mutation_p.Q183* NM_003574 NP_003565 Q9P0L0 VAPA_HUMAN Homo sapiens VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa (VAPA), transcript variant 1, mRNA. 183 cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle protein heterodimerization activity|signal transducer activity|structural molecule activity breast(1)|lung(2)|prostate(1) 4 TAAAAGACTTCAGGGAGAAAT 0.378000 47 41 0 0 1 0 0 TGFBR3 7049 broad.mit.edu 37 1 92200373 92200373 + Silent SNP T T C TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr1:92200373T>C uc001doh.3 - 4 1043 c.528A>G c.(526-528)gaA>gaG p.E176E TGFBR3_uc009wde.3_5'UTR|TGFBR3_uc010osy.2_Silent_p.E134E|TGFBR3_uc001doi.3_Silent_p.E176E|TGFBR3_uc001doj.3_Silent_p.E176E NM_003243 NP_003234 Q03167 TGBR3_HUMAN Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA. 176 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) CTATCTTGAGTTCGGTGAATG 0.378000 13 308 0 0 1 0 0 DGKG 1608 broad.mit.edu 37 3 185929649 185929649 + Nonsense_Mutation SNP C C A TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr3:185929649C>A uc003fqa.3 - 20 2389 c.1852G>T c.(1852-1854)Gaa>Taa p.E618* DGKG_uc003fqb.3_Nonsense_Mutation_p.E579*|DGKG_uc003fqc.3_Nonsense_Mutation_p.E593*|DGKG_uc011brx.2_Nonsense_Mutation_p.E559* NM_001346 NP_001337 P49619 DGKG_HUMAN Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA. 618 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) GTGCCAAATTCAAAGTACCAC 0.453000 4 100 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128134235 128134238 + Frame_Shift_Del DEL ACTA ACTA - rs150659844 TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr6:128134235_128134238delACTA uc011ebt.2 - 3 1697_1700 c.1548_1551delTAGT c.(1546-1551)gttagtfs p.V516fs THEMIS_uc010kfa.3_Frame_Shift_Del_p.V419fs|THEMIS_uc021zfa.1_Frame_Shift_Del_p.V516fs|THEMIS_uc010kfb.3_Frame_Shift_Del_p.V481fs NM_001164685 NP_001158157 Q8N1K5 THMS1_HUMAN Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA. 516 CABIT 2. T cell receptor signaling pathway|negative T cell selection|positive T cell selection cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TAGAGAAATTACTAACTAACTGAA 0.441 50 76 --- --- --- --- PLEC 5339 broad.mit.edu 37 8 145009091 145009091 + Frame_Shift_Del DEL G G - rs137853160 TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr8:145009091delG uc003zaf.1 - 8 1413 c.1243delC c.(1243-1245)cagfs p.Q415fs PLEC_uc003zab.1_Frame_Shift_Del_p.Q278fs|PLEC_uc003zac.1_Frame_Shift_Del_p.Q282fs|PLEC_uc003zad.2_Frame_Shift_Del_p.Q278fs|PLEC_uc003zae.1_Frame_Shift_Del_p.Q246fs|PLEC_uc003zag.1_Frame_Shift_Del_p.Q256fs|PLEC_uc003zah.2_Frame_Shift_Del_p.Q264fs|PLEC_uc003zaj.2_Frame_Shift_Del_p.Q305fs NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 415 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle 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 CAGCGCAGCTGCAGCTCCTGC 0.706 19 31 --- --- --- ---