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 C14orf93 60686 broad.mit.edu 37 14 23467792 23467792 + Silent SNP G G A TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr14:23467792G>A ENST00000299088.6 - 2 870 c.441C>T c.(439-441)agC>agT p.S147S C14orf93_ENST00000397379.3_Silent_p.S147S|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Silent_p.S147S|C14orf93_ENST00000397377.1_5'UTR|C14orf93_ENST00000397382.4_Silent_p.S147S|C14orf93_ENST00000341470.4_Silent_p.S147S NM_001130708.1|NM_021944.2 NP_001124180.1|NP_068763.2 Q9H972 CN093_HUMAN chromosome 14 open reading frame 93 147 extracellular region kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 17 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0127) CGCTGCCCACGCTGTCACACT 0.642000 4 37 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74319545 74319545 + Missense_Mutation SNP G G A TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr9:74319545G>A ENST00000377044.4 - 18 3699 c.3160C>T c.(3160-3162)Cgg>Tgg p.R1054W TMEM2_ENST00000396272.3_Missense_Mutation_p.R47W|TMEM2_ENST00000377066.5_Missense_Mutation_p.R991W NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 1054 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) AATGTAGTCCGTGGTGCCGGC 0.433000 21 35 0 0 1 0 0 LZTS3 0 broad.mit.edu 37 20 3145297 3145297 + Missense_Mutation SNP T T G TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr20:3145297T>G ENST00000329152.3 - 3 3222 c.1825A>C c.(1825-1827)Aag>Cag p.K609Q LZTS3_ENST00000360342.3_Missense_Mutation_p.K563Q|LZTS3_ENST00000337576.5_Missense_Mutation_p.K563Q NM_014731.2 NP_055546.1 ACCTTCTCCTTCTCCTCCAGC 0.711000 10 14 0 0 1 0 0 PSMC2 5701 broad.mit.edu 37 7 103004675 103004675 + Missense_Mutation SNP C C T TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr7:103004675C>T ENST00000435765.1 + 9 1088 c.677C>T c.(676-678)gCg>gTg p.A226V PSMC2_ENST00000292644.3_Missense_Mutation_p.A226V|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.A89V NM_002803.3 NP_002794.1 P35998 PRS7_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 2 226 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 21 ACACTCTGTGCGCGGGCAGTT 0.498000 11 63 0 0 1 0 0 CASC1 55259 broad.mit.edu 37 12 25274826 25274826 + Missense_Mutation SNP T T C TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr12:25274826T>C ENST00000354189.5 - 11 1309 c.1274A>G c.(1273-1275)aAt>aGt p.N425S CASC1_ENST00000320267.9_Missense_Mutation_p.N361S|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Missense_Mutation_p.N302S|CASC1_ENST00000537577.1_Missense_Mutation_p.N249S|CASC1_ENST00000395987.3_Missense_Mutation_p.N367S|CASC1_ENST00000395990.2_Missense_Mutation_p.N321S NM_001082972.1 NP_001076441.1 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 361 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) TTCAGAAGAATTCTCTACCAG 0.338000 24 134 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907134 164907134 + Silent SNP G G A TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr3:164907134G>A ENST00000475390.1 - 2 1928 c.1485C>T c.(1483-1485)atC>atT p.I495I SLITRK3_ENST00000241274.3_Silent_p.I495I O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 495 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CTGCAGGCTGGATTTCCCGGA 0.488000 HNSCC(40;0.11) 4 37 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 49 0 0 1 0 0 CCDC82 79780 broad.mit.edu 37 11 96117466 96117466 + Missense_Mutation SNP T T G TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr11:96117466T>G ENST00000278520.5 - 3 874 c.446A>C c.(445-447)cAg>cCg p.Q149P CCDC82_ENST00000542662.1_Missense_Mutation_p.Q149P|CCDC82_ENST00000423339.2_Missense_Mutation_p.Q149P Q8N4S0 CCD82_HUMAN coiled-coil domain containing 82 149 Q -> E (in dbSNP:rs17851661). protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.154) ATGTTTTTCCTGATCATCCTC 0.318000 14 118 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31617976 31617976 + Missense_Mutation SNP C C T TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr14:31617976C>T ENST00000399332.1 - 15 2935 c.2447G>A c.(2446-2448)gGc>gAc p.G816D HECTD1_ENST00000553700.1_Missense_Mutation_p.G816D NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 816 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) GCCTCTTTTGCCAGTCCAGCC 0.323000 3 57 0 0 1 0 0 IL1R2 7850 broad.mit.edu 37 2 102641116 102641116 + Silent SNP C C T rs141821381 byFrequency TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr2:102641116C>T ENST00000332549.3 + 7 1102 c.873C>T c.(871-873)acC>acT p.T291T IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Silent_p.T291T|IL1R2_ENST00000441002.1_Silent_p.T291T NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II 291 Ig-like C2-type 3. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) GCCGCGTGACCGAGGGGCCAC 0.572000 5 50 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123152133 123152133 + Missense_Mutation SNP C C A TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr7:123152133C>A ENST00000466202.1 - 2 838 c.262G>T c.(262-264)Gtt>Ttt p.V88F IQUB_ENST00000434450.1_Missense_Mutation_p.V88F|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Missense_Mutation_p.V88F Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 88 p.V88F(1) breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 GTATATGAAACTTGTCTTGGT 0.398000 11 147 1.08611e-07 1.17185e-07 1 1 0 TJAP1 93643 broad.mit.edu 37 6 43466774 43466774 + Missense_Mutation SNP G G C TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr6:43466774G>C ENST00000372444.2 + 5 468 c.35G>C c.(34-36)cGt>cCt p.R12P TJAP1_ENST00000438588.2_Missense_Mutation_p.R12P|TJAP1_ENST00000436109.2_Missense_Mutation_p.R12P|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372445.5_Missense_Mutation_p.R12P|TJAP1_ENST00000372449.1_Missense_Mutation_p.R12P|TJAP1_ENST00000372452.1_Missense_Mutation_p.R12P|TJAP1_ENST00000259751.1_Missense_Mutation_p.R12P NM_001146018.1 NP_001139490.1 Q5JTD0 TJAP1_HUMAN tight junction associated protein 1 (peripheral) 12 Golgi apparatus|tight junction protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2) 21 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) AAACCCTACCGTAAGGCACCA 0.592000 5 29 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97869979 97869979 + Missense_Mutation SNP G G T rs111515821 TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr2:97869979G>T ENST00000420699.2 + 50 3284 c.3040G>T c.(3040-3042)Gat>Tat p.D1014Y ANKRD36_ENST00000461153.2_Missense_Mutation_p.D1014Y NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 1014 p.D1014Y(5) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 AGGAAAAAAGGATGGAGAAAA 0.328000 3 25 1 1 1 1 0 AMER2 219287 broad.mit.edu 37 13 25743973 25743973 + Silent SNP T T C TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr13:25743973T>C ENST00000357816.2 - 3 1903 c.1428A>G c.(1426-1428)ccA>ccG p.P476P AMER2_ENST00000515384.1_Silent_p.P595P|AMER2_ENST00000381853.3_Silent_p.P476P APC membrane recruitment protein 2 GTGTTCGCAGTGGACAGGTGA 0.572000 4 88 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 50 0 0 1 0 0 HSD17B7 51478 broad.mit.edu 37 1 162769603 162769603 + Missense_Mutation SNP G G A TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr1:162769603G>A ENST00000367917.3 + 5 586 c.518G>A c.(517-519)aGt>aAt p.S173N HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 173 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity p.S173N(4) endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_hematologic(112;0.115) NADH(DB00157) TCATCTCGCAGTGCAAGGAAA 0.458000 3 50 0 0 1 0 0 PCDHA1 0 broad.mit.edu 37 5 140167805 140167805 + Missense_Mutation SNP C C T TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr5:140167805C>T ENST00000504120.2 + 1 1930 c.1930C>T c.(1930-1932)Cgc>Tgc p.R644C PCDHA1_ENST00000378133.3_Missense_Mutation_p.R644C|PCDHA1_ENST00000394633.3_Intron NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACTTGTCGCGCTACCGCCT 0.662000 13 61 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33954430 33954430 + Missense_Mutation SNP G G A TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr15:33954430G>A ENST00000389232.4 + 35 4769 c.4699G>A c.(4699-4701)Gcg>Acg p.A1567T RYR3_ENST00000415757.3_Missense_Mutation_p.A1567T NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1567 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCTCTACAGCGCGGTGTGCGC 0.607000 3 12 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34006159 34006159 + Missense_Mutation SNP A A C TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr1:34006159A>C ENST00000373381.4 - 60 9773 c.9597T>G c.(9595-9597)aaT>aaG p.N3199K NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3175 Sushi 26. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TCCAGGACCCATTTCCCTCAC 0.582000 12 42 0 0 1 0 0 SMURF2 64750 broad.mit.edu 37 17 62589625 62589625 + Missense_Mutation SNP T T G TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr17:62589625T>G ENST00000262435.9 - 4 454 c.267A>C c.(265-267)caA>caC p.Q89H SMURF2_ENST00000578200.1_Intron NM_022739.3 NP_073576.1 Q9HAU4 SMUF2_HUMAN SMAD specific E3 ubiquitin protein ligase 2 89 C2. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex identical protein binding|SMAD binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4) 22 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) ATCCAGCACCTTGTTTCTTAT 0.398000 14 75 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89148373 89148373 + Silent SNP T T C TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr14:89148373T>C ENST00000554922.1 - 21 3233 c.2985A>G c.(2983-2985)ggA>ggG p.G995G EML5_ENST00000352093.5_Silent_p.G957G|EML5_ENST00000380664.5_Silent_p.G995G NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 995 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CTTCCATGTGTCCCTATAAAG 0.353000 9 72 0 0 1 0 0 URB2 9816 broad.mit.edu 37 1 229773318 229773318 + Silent SNP T T A TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr1:229773318T>A ENST00000258243.2 + 4 3094 c.2958T>A c.(2956-2958)ctT>ctA p.L986L NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 986 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 GTAGGTTCCTTATTGAGATGG 0.443000 14 125 0 0 1 0 0 FNIP1 96459 broad.mit.edu 37 5 130980422 130980422 + Missense_Mutation SNP C C T TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr5:130980422C>T ENST00000307968.7 - 17 3372 c.3373G>A c.(3373-3375)Gta>Ata p.V1125I FNIP1_ENST00000510461.1_Missense_Mutation_p.V1153I|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.V1108I NM_001008738.2 NP_001008738.2 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) GTGCTTGCTACAGCAGCCAGA 0.383000 7 30 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62813885 62813885 + Missense_Mutation SNP A A T TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr4:62813885A>T ENST00000512091.1 + 16 3239 c.2492A>T c.(2491-2493)tAt>tTt p.Y831F LPHN3_ENST00000508693.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000507625.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000507164.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000506746.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000514996.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000506700.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000514157.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000504896.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000509896.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000511324.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000514591.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000508946.1_Missense_Mutation_p.Y831F|LPHN3_ENST00000506720.1_Missense_Mutation_p.Y899F|LPHN3_ENST00000545650.1_Missense_Mutation_p.Y831F Q9HAR2 LPHN3_HUMAN latrophilin 3 818 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 ATGACAGGTTATTGGTCAACA 0.403000 3 38 0 0 1 0 0 SUGP2 10147 broad.mit.edu 37 19 19115404 19115404 + Silent SNP C C T TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr19:19115404C>T ENST00000601879.1 - 7 2799 c.2502G>A c.(2500-2502)gtG>gtA p.V834V SUGP2_ENST00000456085.2_Silent_p.V603V|SUGP2_ENST00000452918.2_Silent_p.V834V|SUGP2_ENST00000600377.1_Silent_p.V848V|SUGP2_ENST00000337018.6_Silent_p.V834V Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 834 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 ATAGTTCAAACACTTTCTTTC 0.458000 24 58 0 0 1 0 0 ZNF823 55552 broad.mit.edu 37 19 11832823 11832823 + Missense_Mutation SNP C C A TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr19:11832823C>A ENST00000341191.6 - 4 1679 c.1526G>T c.(1525-1527)aGt>aTt p.S509I ZNF823_ENST00000545749.1_Missense_Mutation_p.S327I NM_001080493.2 NP_001073962.1 P16415 ZN823_HUMAN zinc finger protein 823 509 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26 ACTGAAATGACTGAAGGCTTT 0.378000 HNSCC(68;0.2) 9 76 3.09899e-07 3.25791e-07 1 1 0 PTCH2 8643 broad.mit.edu 37 1 45295346 45295346 + Silent SNP A A T TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr1:45295346A>T ENST00000447098.2 - 8 1034 c.1023T>A c.(1021-1023)atT>atA p.I341I PTCH2_ENST00000372192.3_Silent_p.I341I NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 341 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) CACTCCAGCCAATGTCATGTG 0.612000 Basal Cell Nevus syndrome 7 71 0 0 1 0 0 FTO 79068 broad.mit.edu 37 16 53913760 53913760 + Nonsense_Mutation SNP C C G TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr16:53913760C>G ENST00000471389.1 + 6 1202 c.980C>G c.(979-981)tCa>tGa p.S327* FTO_ENST00000394647.3_Nonsense_Mutation_p.S31* NM_001080432.2 NP_001073901.1 Q9C0B1 FTO_HUMAN fat mass and obesity associated 327 Fe2OG dioxygenase domain. DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 CAACAGTGCTCAACAGGAACC 0.413000 3 79 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37485725 37485725 + Silent SNP G G A TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr22:37485725G>A ENST00000381792.2 - 7 869 c.729C>T c.(727-729)ccC>ccT p.P243P TMPRSS6_ENST00000406725.1_Silent_p.P243P|TMPRSS6_ENST00000406856.1_Silent_p.P243P|TMPRSS6_ENST00000346753.3_Silent_p.P252P|TMPRSS6_ENST00000442782.2_Silent_p.P252P Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 252 CUB 1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 TGAGGTCCTTGGGGCCCTGCA 0.667000 3 10 0 0 1 0 0 CD160 11126 broad.mit.edu 37 1 145699056 145699056 + Missense_Mutation SNP T T G TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr1:145699056T>G ENST00000369290.1 - 3 265 c.108A>C c.(106-108)caA>caC p.Q36H CD160_ENST00000401557.3_Missense_Mutation_p.Q145H|CD160_ENST00000369288.2_Missense_Mutation_p.Q145H|CD160_ENST00000235933.6_Missense_Mutation_p.Q145H O95971 BY55_HUMAN CD160 molecule 145 Ig-like V-type. cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response anchored to plasma membrane MHC class I receptor activity|receptor binding endometrium(3)|large_intestine(2)|lung(2) 7 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) GGTGTTGTCTTTGTTTCAATC 0.468000 15 71 0 0 1 0 0 BANK1 55024 broad.mit.edu 37 4 102981540 102981540 + Missense_Mutation SNP T T G TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr4:102981540T>G ENST00000504592.1 + 16 2515 c.2097T>G c.(2095-2097)atT>atG p.I699M BANK1_ENST00000444316.2_Missense_Mutation_p.I684M|BANK1_ENST00000508653.1_Missense_Mutation_p.I581M|BANK1_ENST00000428908.1_Missense_Mutation_p.I581M|BANK1_ENST00000322953.4_Missense_Mutation_p.I714M Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 714 B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) TGGAAATGATTCAGCAGGTAA 0.418000 13 47 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196852857 196852857 + Missense_Mutation SNP T T A TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr2:196852857T>A ENST00000312428.6 - 13 1550 c.1450A>T c.(1450-1452)Agt>Tgt p.S484C NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 484 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GGTGCCACACTCTCTTTCATA 0.373000 4 80 0 0 1 0 0 BYSL 705 broad.mit.edu 37 6 41889339 41889339 + Silent SNP G G A TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr6:41889339G>A ENST00000230340.4 + 1 414 c.39G>A c.(37-39)caG>caA p.Q13Q NM_004053.3 NP_004044.3 Q13895 BYST_HUMAN bystin-like 13 cell adhesion|female pregnancy|ribosome biogenesis cytoplasm|nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1) 8 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TGGGGGGTCAGGAAAAACATG 0.647000 OREG0017436 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 24 0 0 1 0 0 RAVER2 55225 broad.mit.edu 37 1 65278473 65278473 + Missense_Mutation SNP G G A TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr1:65278473G>A ENST00000294428.3 + 10 1811 c.1733G>A c.(1732-1734)cGg>cAg p.R578Q RAVER2_ENST00000371072.4_Missense_Mutation_p.R565Q|RAVER2_ENST00000430964.2_Missense_Mutation_p.R117Q Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 578 cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 AAAGAAATTCGGCTCAGTAAA 0.403000 12 29 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56369968 56369968 + Silent SNP T T A TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr19:56369968T>A ENST00000301295.6 + 3 1631 c.1209T>A c.(1207-1209)gcT>gcA p.A403A NLRP4_ENST00000587891.1_Silent_p.A328A|NLRP4_ENST00000346986.5_Silent_p.A403A NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 403 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GCTCCCTGGCTGCAGAGGGTA 0.572000 5 63 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123249427 123249427 + Missense_Mutation SNP T T G TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr4:123249427T>G ENST00000264501.4 + 66 11537 c.11164T>G c.(11164-11166)Ttg>Gtg p.L3722V KIAA1109_ENST00000388738.3_Missense_Mutation_p.L3722V Q2LD37 K1109_HUMAN KIAA1109 3722 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GGATGACAGTTTGTCTTCTAC 0.438000 4 79 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186056778 186056778 + Splice_Site SNP G G A TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr1:186056778G>A ENST00000271588.4 + 60 9592 c.e60+1 HMCN1_ENST00000367492.2_Splice_Site NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GAAAGCTGAGGTGCATCTTTT 0.403000 24 64 0 0 1 0 0 RP11-452N4.1 0 broad.mit.edu 37 8 136251297 136251299 + RNA DEL AGG AGG - TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr8:136251297_136251299delAGG ENST00000522279.1 + 0 384 NR_026706.1 aaggaagcaaaggaggaggagga 0.384 2 4 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14284599 14284600 + RNA DEL TA TA - rs34480564 TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr11:14284599_14284600delTA ENST00000310358.7 + 0 2795 RP11-21L19.1_ENST00000534587.1_RNA Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) TGGACCTGTTTaaaaaaaaaaa 0.465 2 4 --- --- --- --- NUMA1 0 broad.mit.edu 37 11 71719830 71719830 + Frame_Shift_Del DEL A A - rs139169825 byFrequency TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr11:71719830delA ENST00000393695.3 - 20 5451 c.5120delT c.(5119-5121)tafs p.L1707fs NUMA1_ENST00000351960.6_Frame_Shift_Del_p.L571fs|NUMA1_ENST00000358965.6_Frame_Shift_Del_p.L1693fs NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1707 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 ACGGCTCTTTAAAGCATCAGT 0.577 T RARA APL 15 66 --- --- --- --- NARG2 79664 broad.mit.edu 37 15 60741602 60741602 + Frame_Shift_Del DEL T T - TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr15:60741602delT ENST00000261520.4 - 10 1798 c.1564delA c.(1564-1566)ttfs p.I522fs NARG2_ENST00000439632.1_Frame_Shift_Del_p.I385fs NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 522 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 GAAGTTTCAATTTCCTGAGAA 0.313 15 98 --- --- --- --- ZNF615 284370 broad.mit.edu 37 19 52496378 52496378 + Frame_Shift_Del DEL A A - TCGA-KK-A8IJ-01A-11D-A34U-08 TCGA-KK-A8IJ-11A-11D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78522869-eb0b-4497-b8bf-45437235c7c2 22a01dd4-194d-4931-91a3-cfd5406147df g.chr19:52496378delA ENST00000602063.1 - 6 2300 c.1951delT c.(1951-1953)ccfs p.S651fs ZNF615_ENST00000376716.5_Frame_Shift_Del_p.S651fs|ZNF615_ENST00000391795.3_Frame_Shift_Del_p.S656fs|ZNF615_ENST00000598071.1_Frame_Shift_Del_p.S662fs|ZNF615_ENST00000594083.1_Frame_Shift_Del_p.S662fs Q8N8J6 ZN615_HUMAN zinc finger protein 615 651 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) CATGCAAAGGAAGTCTTTCCT 0.388 19 178 --- --- --- ---