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 NOL9 79707 broad.mit.edu 37 1 6592683 6592683 + Nonsense_Mutation SNP T T A TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr1:6592683T>A ENST00000377705.5 - 8 1407 c.1375A>T c.(1375-1377)Aaa>Taa p.K459* NM_024654.4 NP_078930 Q5SY16 NOL9_HUMAN nucleolar protein 9 459 maturation of 5.8S rRNA nucleolus ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1) 19 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) GTCTTGCTTTTTGTGTACAAG 0.463 8 119 --- --- --- --- AADACL4 343066 broad.mit.edu 37 1 12721809 12721809 + Nonsense_Mutation SNP C C G TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr1:12721809C>G ENST00000376221.1 + 3 393 c.393C>G c.(391-393)taC>taG p.Y131* NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 131 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) CAGATTGTTACCATGGCCTGT 0.527 11 86 --- --- --- --- C1orf87 127795 broad.mit.edu 37 1 60520927 60520927 + Missense_Mutation SNP G G C TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr1:60520927G>C ENST00000371201.3 - 3 398 c.291C>G c.(289-291)aaC>aaG p.N97K C1orf87_ENST00000450089.2_Missense_Mutation_p.N97K NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 97 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GTTTCTGGTTGTTTTCTGATT 0.393 50 145 --- --- --- --- POLR1A 25885 broad.mit.edu 37 2 86327179 86327179 + Missense_Mutation SNP G G T TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr2:86327179G>T ENST00000263857.6 - 2 572 c.194C>A c.(193-195)tCc>tAc p.S65Y POLR1A_ENST00000409681.1_Missense_Mutation_p.S65Y O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 65 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 CACGCAGGTGGAGCACACCTC 0.557 3 39 --- --- --- --- ERBB4 2066 broad.mit.edu 37 2 212530061 212530061 + Missense_Mutation SNP T T C TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr2:212530061T>C ENST00000342788.4 - 15 2168 c.1858A>G c.(1858-1860)Aac>Gac p.N620D ERBB4_ENST00000436443.1_Missense_Mutation_p.N620D|ERBB4_ENST00000402597.1_Missense_Mutation_p.N620D NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 620 Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TGGGTGCAGTTTGGATGGCAT 0.478 TSP Lung(8;0.080) 21 51 --- --- --- --- CIDEC 63924 broad.mit.edu 37 3 9911609 9911609 + Missense_Mutation SNP G G A TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr3:9911609G>A ENST00000336832.2 - 5 650 c.511C>T c.(511-513)Ctt>Ttt p.L171F CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000423850.1_Missense_Mutation_p.L97F|CIDEC_ENST00000455015.1_Missense_Mutation_p.L97F|CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000430427.1_Missense_Mutation_p.L181F NM_001199552.1|NM_001199623.1|NM_022094.3 NP_001186481.1|NP_001186552.1|NP_071377.2 Q96AQ7 CIDEC_HUMAN cell death-inducing DFFA-like effector c 171 apoptosis|induction of apoptosis cytosol|focal adhesion|nucleus breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1) 8 Medulloblastoma(99;0.227) TCATAGGAAAGGGAGTATGTA 0.512 3 45 --- --- --- --- XIRP1 165904 broad.mit.edu 37 3 39225734 39225734 + Missense_Mutation SNP G G T TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr3:39225734G>T ENST00000340369.3 - 2 5431 c.5203C>A c.(5203-5205)Cct>Act p.P1735T XIRP1_ENST00000421646.1_Missense_Mutation_p.P418T|XIRP1_ENST00000396251.1_3'UTR NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1735 Interaction with FLNC. actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GCTGAGGGAGGGGCAGGTTCA 0.587 6 94 --- --- --- --- ATP13A4 84239 broad.mit.edu 37 3 193183888 193183888 + Silent SNP T T G TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr3:193183888T>G ENST00000342695.4 - 11 1520 c.1198A>C c.(1198-1200)Agg>Cgg p.R400R ATP13A4_ENST00000295548.3_Silent_p.R400R|ATP13A4_ENST00000392443.3_Silent_p.R400R NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 400 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) AGGAGGAACCTGATGGCATCC 0.448 32 119 --- --- --- --- C4orf29 80167 broad.mit.edu 37 4 128930134 128930134 + Missense_Mutation SNP T T G TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr4:128930134T>G ENST00000388795.5 + 5 495 c.92T>G c.(91-93)cTt>cGt p.L31R C4orf29_ENST00000444616.1_Missense_Mutation_p.L113R|C4orf29_ENST00000398965.1_Missense_Mutation_p.L113R Q0P651 CD029_HUMAN chromosome 4 open reading frame 29 113 extracellular region breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 TGCATTCATCTTGCTGGAACA 0.299 11 26 --- --- --- --- SNTG1 54212 broad.mit.edu 37 8 51617164 51617164 + Missense_Mutation SNP G G A TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr8:51617164G>A ENST00000522124.1 + 16 1704 c.1043G>A c.(1042-1044)aGt>aAt p.S348N SNTG1_ENST00000517473.1_Missense_Mutation_p.S348N|SNTG1_ENST00000518864.1_Missense_Mutation_p.S348N|SNTG1_ENST00000276467.5_Missense_Mutation_p.S348N NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 348 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) CACCAGGACAGTGACCTGCTG 0.557 4 76 --- --- --- --- FAM208B 54906 broad.mit.edu 37 10 5781751 5781751 + Missense_Mutation SNP C C G TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr10:5781751C>G ENST00000328090.5 + 13 2243 c.1618C>G c.(1618-1620)Cta>Gta p.L540V RP11-336A10.2_ENST00000411512.2_RNA NM_017782.4 NP_060252 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 540 GTTAGCCGATCTAGCATTAAG 0.418 29 77 --- --- --- --- OR4P4 81300 broad.mit.edu 37 11 55405907 55405907 + Missense_Mutation SNP G G C TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr11:55405907G>C ENST00000314612.2 + 1 74 c.74G>C c.(73-75)tGc>tCc p.C25S NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 GAAGTCCTCTGCTTTGTATTA 0.353 3 56 --- --- --- --- SLC22A9 114571 broad.mit.edu 37 11 63137888 63137888 + Missense_Mutation SNP G G T TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr11:63137888G>T ENST00000279178.3 + 1 609 c.360G>T c.(358-360)tgG>tgT p.W120C SLC22A9_ENST00000310969.4_Missense_Mutation_p.W120C NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 120 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 TGGATGGCTGGGTGTATGACA 0.507 15 57 --- --- --- --- C1S 716 broad.mit.edu 37 12 7169982 7169982 + Missense_Mutation SNP T T C TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr12:7169982T>C ENST00000406697.1 + 6 837 c.209T>C c.(208-210)gTg>gCg p.V70A C1S_ENST00000402681.3_Intron|C1S_ENST00000328916.3_Missense_Mutation_p.V70A|C1S_ENST00000360817.5_Missense_Mutation_p.V70A P09871 C1S_HUMAN complement component 1, s subcomponent 70 CUB 1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TATGACTCAGTGCAGGTATGT 0.463 31 41 --- --- --- --- TESPA1 9840 broad.mit.edu 37 12 55361659 55361659 + Missense_Mutation SNP A A T TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr12:55361659A>T ENST00000449076.1 - 4 356 c.224T>A c.(223-225)tTt>tAt p.F75Y TESPA1_ENST00000531122.1_5'UTR|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000316577.8_Missense_Mutation_p.F75Y NM_001136030.2 NP_001129502.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 75 TTCCTCAGAAAATCCTTCTTC 0.373 11 27 --- --- --- --- OTOGL 283310 broad.mit.edu 37 12 80647288 80647288 + Missense_Mutation SNP G G T TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr12:80647288G>T ENST00000458043.2 + 13 1307 c.1301G>T c.(1300-1302)tGc>tTc p.C434F OTOGL_ENST00000547103.1_Missense_Mutation_p.C434F NM_173591.3 NP_775862.3 otogelin-like p.C434F(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTGGAAAATTGCCCATGCGGT 0.353 11 39 --- --- --- --- PLXNC1 10154 broad.mit.edu 37 12 94603368 94603368 + Missense_Mutation SNP G G T TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr12:94603368G>T ENST00000258526.4 + 5 1691 c.1442G>T c.(1441-1443)tGc>tTc p.C481F NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 481 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TTTTTTAGGTGCACTTTTCAA 0.393 4 142 --- --- --- --- IGHV3-23 28442 broad.mit.edu 37 14 106725617 106725617 + RNA SNP A A G TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr14:106725617A>G ENST00000390609.2 - 0 116 ACCTTTTAAAATAGCCACAAG 0.428 25 119 --- --- --- --- ANPEP 290 broad.mit.edu 37 15 90349645 90349645 + Missense_Mutation SNP G G A TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr15:90349645G>A ENST00000300060.6 - 2 483 c.170C>T c.(169-171)aCc>aTc p.T57I NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 57 Cytosolic Ser/Thr-rich junction. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GGCGGGGTTGGTGGTGGCTGA 0.607 5 102 --- --- --- --- IGSF6 10261 broad.mit.edu 37 16 21658767 21658767 + Silent SNP T T C TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr16:21658767T>C ENST00000268389.4 - 2 175 c.114A>G c.(112-114)ctA>ctG p.L38L METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron NM_005849.3 NP_005840.2 O95976 IGSF6_HUMAN immunoglobulin superfamily, member 6 38 Ig-like C2-type. cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(48;0.066) AGTCCACTTCTAGGTACCACG 0.552 11 38 --- --- --- --- MPP2 4355 broad.mit.edu 37 17 41958703 41958703 + Missense_Mutation SNP T T A TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr17:41958703T>A ENST00000269095.4 - 8 1132 c.828A>T c.(826-828)gaA>gaT p.E276D MPP2_ENST00000518766.1_Missense_Mutation_p.E321D|MPP2_ENST00000461854.1_Missense_Mutation_p.E300D|MPP2_ENST00000523501.1_Missense_Mutation_p.E265D|MPP2_ENST00000377184.3_Missense_Mutation_p.E293D|MPP2_ENST00000536246.1_Missense_Mutation_p.E265D|MPP2_ENST00000520305.1_Missense_Mutation_p.E137D NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 300 SH3. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) CACTGCCCCCTTCGACATGGC 0.582 OREG0024443 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 46 --- --- --- --- ABCA7 10347 broad.mit.edu 37 19 1045143 1045143 + Missense_Mutation SNP C C T TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr19:1045143C>T ENST00000263094.6 + 12 1589 c.1358C>T c.(1357-1359)cCa>cTa p.P453L ABCA7_ENST00000433129.1_Missense_Mutation_p.P453L|ABCA7_ENST00000435683.2_Missense_Mutation_p.P315L NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 453 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) 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) ACAGAGCACCCAACCCCAGAC 0.627 23 66 --- --- --- --- BLCAP 10904 broad.mit.edu 37 20 36147327 36147327 + Missense_Mutation SNP C C T TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr20:36147327C>T ENST00000414542.2 - 3 697 c.250G>A c.(250-252)Gtt>Att p.V84I BLCAP_ENST00000397134.1_Missense_Mutation_p.V84I|BLCAP_ENST00000397131.1_Missense_Mutation_p.V84I|BLCAP_ENST00000373537.2_Missense_Mutation_p.V84I|BLCAP_ENST00000397137.1_Missense_Mutation_p.V84I|BLCAP_ENST00000397135.1_Missense_Mutation_p.V84I NM_001167820.1|NM_001167823.1 NP_001161292.1|NP_001161295.1 P62952 BLCAP_HUMAN bladder cancer associated protein 84 apoptosis|cell cycle integral to membrane breast(1)|large_intestine(1)|lung(2)|stomach(1) 5 Myeloproliferative disorder(115;0.00878) GTGCCCACAACGCCGGGATCA 0.547 14 34 --- --- --- --- ZNF7 7553 broad.mit.edu 37 8 146068408 146068409 + Frame_Shift_Ins INS - - T TCGA-YL-A8SR-01B-11D-A377-08 TCGA-YL-A8SR-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11c34a2d-0b7e-42d7-964b-b4882815490c f07e44d4-d773-4542-abd8-921540b147bb g.chr8:146068408_146068409insT ENST00000528372.1 + 5 2156_2157 c.1916_1917insT c.(1915-1920)tgtgagfs p.E640fs ZNF7_ENST00000325241.6_Frame_Shift_Ins_p.E640fs|ZNF7_ENST00000446747.2_Frame_Shift_Ins_p.E651fs|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000544249.1_Frame_Shift_Ins_p.E544fs P17097 ZNF7_HUMAN zinc finger protein 7 640 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;2.11e-07) TGTGAAGACTGTGAGAAGATAT 0.426 12 112 --- --- --- ---