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 C11orf16 56673 broad.mit.edu 37 11 8947013 8947013 + Missense_Mutation SNP G G T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr11:8947013G>T ENST00000326053.5 - 5 1307 c.1201C>A c.(1201-1203)Cca>Aca p.P401T C11orf16_ENST00000525780.1_Missense_Mutation_p.P401T NM_020643.2 NP_065694.2 Q9NQ32 CK016_HUMAN chromosome 11 open reading frame 16 401 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 22 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) GGTATACCTGGCTTCCCAAGG 0.577000 27 22 1.7881e-09 2.15624e-09 1 1 0 ANKRD11 29123 broad.mit.edu 37 16 89347241 89347241 + Silent SNP G G A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr16:89347241G>A ENST00000301030.4 - 9 6169 c.5709C>T c.(5707-5709)ctC>ctT p.L1903L ANKRD11_ENST00000378330.2_Silent_p.L1903L NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1903 Pro-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GGGCCCCTTCGAGGGAAGGAA 0.657000 33 57 0 0 1 0 0 PSIP1 11168 broad.mit.edu 37 9 15468626 15468626 + Splice_Site SNP A A G TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr9:15468626A>G ENST00000380733.4 - 14 1764 c.e14+1 PSIP1_ENST00000380738.4_Splice_Site O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1) 9 GBM - Glioblastoma multiforme(50;2.38e-06) TTTACCACATACCTGTTTGTT 0.378000 22 46 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56483414 56483414 + Missense_Mutation SNP C C G TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr6:56483414C>G ENST00000370765.6 - 23 5525 c.5418G>C c.(5416-5418)caG>caC p.Q1806H DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1214 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ACTGTTGAAGCTGTCTTTCAA 0.408000 29 64 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205036280 205036280 + Missense_Mutation SNP C C A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr1:205036280C>A ENST00000331830.4 + 16 2311 c.2027C>A c.(2026-2028)aCc>aAc p.T676N NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 676 Fibronectin type-III 1. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding p.T676N(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CTGGGCCTCACCCCCTGGATG 0.577000 39 81 4.32679e-17 5.66165e-17 1 1 0 NMD3 51068 broad.mit.edu 37 3 160964133 160964133 + Missense_Mutation SNP G G A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr3:160964133G>A ENST00000460469.1 + 11 1482 c.1027G>A c.(1027-1029)Ggg>Agg p.G343R NMD3_ENST00000472947.1_Missense_Mutation_p.G343R|NMD3_ENST00000351193.2_Missense_Mutation_p.G343R Q96D46 NMD3_HUMAN NMD3 ribosome export adaptor 343 protein transport cytoplasm|nucleolus|nucleoplasm p.G343W(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) GCATACCCTCGGGGAAGTCTG 0.353000 10 18 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.3_Silent_p.L113L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 6 59 0 0 1 0 0 CCDC30 728621 broad.mit.edu 37 1 43102993 43102993 + Nonsense_Mutation SNP A A T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr1:43102993A>T ENST00000428554.2 + 18 2725 c.1582A>T c.(1582-1584)Aag>Tag p.K528* CCDC30_ENST00000340612.4_Nonsense_Mutation_p.K528*|CCDC30_ENST00000342022.4_Nonsense_Mutation_p.K528*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.K317*|CCDC30_ENST00000390640.4_Nonsense_Mutation_p.K317* Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 528 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 ACTACGAGATAAGAGAATTAA 0.308000 4 41 0 0 1 0 0 KIAA1614 57710 broad.mit.edu 37 1 180913531 180913531 + Missense_Mutation SNP C C A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr1:180913531C>A ENST00000367588.4 + 8 3221 c.3166C>A c.(3166-3168)Ccc>Acc p.P1056T KIAA1614_ENST00000367587.1_Missense_Mutation_p.P677T|RP11-46A10.5_ENST00000358073.2_RNA|KIAA1614_ENST00000461346.1_3'UTR NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 1056 Ser-rich. NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 TCAGGTGTCACCCTCTCACCA 0.572000 12 55 0.000422831 0.000448347 1 1 0 HIVEP1 3096 broad.mit.edu 37 6 12161748 12161748 + Missense_Mutation SNP T T A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr6:12161748T>A ENST00000379388.2 + 8 6896 c.6564T>A c.(6562-6564)aaT>aaA p.N2188K HIVEP1_ENST00000541134.1_Missense_Mutation_p.N53K NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 2188 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AGGATGACAATGAAAATGAAG 0.453000 26 37 0 0 1 0 0 DTWD1 56986 broad.mit.edu 37 15 49917391 49917391 + Silent SNP C C G TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr15:49917391C>G ENST00000251250.6 + 3 234 c.27C>G c.(25-27)ctC>ctG p.L9L DTWD1_ENST00000558653.1_Silent_p.L9L|DTWD1_ENST00000403028.3_Silent_p.L9L|DTWD1_ENST00000329873.5_Silent_p.L9L|DTWD1_ENST00000559223.1_3'UTR NM_020234.5 NP_064619.2 Q8N5C7 DTWD1_HUMAN DTW domain containing 1 9 L -> P (in dbSNP:rs11539522). endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all_lung(180;0.0384) all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05) CTATATTTCTCAAACGAAGTG 0.323000 6 18 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 31024662 31024662 + Silent SNP C C A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr8:31024662C>A ENST00000298139.5 + 34 4356 c.4107C>A c.(4105-4107)gtC>gtA p.V1369V RP11-363L24.3_ENST00000521252.1_RNA NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 1369 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CATGTGATGTCAACAAAAGGA 0.388000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 9 34 0.00621372 0.00647701 1 1 0 KLC4 89953 broad.mit.edu 37 6 43029073 43029073 + Translation_Start_Site SNP G G A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr6:43029073G>A ENST00000394056.2 + 0 495 KLC4_ENST00000259708.3_Silent_p.R18R|KLC4_ENST00000453940.2_De_novo_Start_InFrame|KLC4_ENST00000479388.1_De_novo_Start_InFrame|KLC4_ENST00000347162.5_De_novo_Start_InFrame|KLC4_ENST00000458460.2_De_novo_Start_InFrame|KLC4_ENST00000394058.1_De_novo_Start_InFrame Q9NSK0 KLC4_HUMAN kinesin light chain 4 cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4) 23 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) CCCAGGCCAGGATGTCAGGCC 0.602000 7 81 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152324561 152324561 + Missense_Mutation SNP G G A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr1:152324561G>A ENST00000388718.5 - 3 5773 c.5701C>T c.(5701-5703)Cac>Tac p.H1901Y FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1901 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTTGGCTGTGTGTGTGTCCT 0.507000 72 164 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161007551 161007551 + Silent SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr6:161007551C>T ENST00000447678.1 - 26 4179 c.4059G>A c.(4057-4059)gtG>gtA p.V1353V LPA_ENST00000316300.5_Silent_p.V1353V NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3861 Kringle 12. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TTGATTCCATCACTGGACATT 0.512000 16 80 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238275412 238275412 + Silent SNP G G A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr2:238275412G>A ENST00000295550.4 - 11 5870 c.5418C>T c.(5416-5418)tcC>tcT p.S1806S COL6A3_ENST00000472056.1_Silent_p.S1199S|COL6A3_ENST00000353578.4_Silent_p.S1600S|COL6A3_ENST00000347401.3_Silent_p.S1605S|COL6A3_ENST00000409809.1_Silent_p.S1600S|COL6A3_ENST00000346358.4_Silent_p.S1606S NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1806 Nonhelical region.|VWFA 9. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CGCTCAGTTCGGACAGCTCCT 0.522000 23 86 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122848560 122848560 + Missense_Mutation SNP C C A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr12:122848560C>A ENST00000358808.2 - 4 906 c.752G>T c.(751-753)gGg>gTg p.G251V CLIP1_ENST00000545889.1_5'UTR|CLIP1_ENST00000537178.1_Missense_Mutation_p.G251V|CLIP1_ENST00000540338.1_Missense_Mutation_p.G251V|CLIP1_ENST00000302528.7_Missense_Mutation_p.G251V|CLIP1_ENST00000361654.4_Missense_Mutation_p.G251V NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 251 CAP-Gly 2. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) ATCATTCTTCCCAAGTGGCTC 0.537000 10 32 7.48243e-07 8.52165e-07 1 1 0 PC 5091 broad.mit.edu 37 11 66636369 66636369 + Missense_Mutation SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr11:66636369C>T ENST00000393960.1 - 10 1251 c.970G>A c.(970-972)Gag>Aag p.E324K PC_ENST00000355677.3_Missense_Mutation_p.E324K|PC_ENST00000524491.1_Missense_Mutation_p.E284K|PC_ENST00000393955.2_Missense_Mutation_p.E324K|PC_ENST00000393958.2_Missense_Mutation_p.E324K NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 324 ATP-grasp.|Biotin carboxylation. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) GAGTTGACCTCGATGAAGTAG 0.662000 40 59 0 0 1 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140745457 140745457 + Silent SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr5:140745457C>T ENST00000518069.1 + 1 1560 c.1560C>T c.(1558-1560)ttC>ttT p.F520F PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAGATCCTTCGACTATGAGC 0.542000 15 199 0 0 1 0 0 GALP 85569 broad.mit.edu 37 19 56693616 56693616 + Missense_Mutation SNP C C A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr19:56693616C>A ENST00000357330.2 + 4 294 c.212C>A c.(211-213)gCc>gAc p.A71D GALP_ENST00000440823.1_3'UTR NM_033106.3 NP_149097.1 Q9UBC7 GALP_HUMAN galanin-like peptide 71 neuropeptide signaling pathway extracellular region hormone activity lung(4) 4 Colorectal(82;0.000147)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0507) CTGTGGAAGGCCATCGGTGAG 0.582000 8 53 0.000157383 0.000171311 1 1 0 SULF1 23213 broad.mit.edu 37 8 70512953 70512953 + Missense_Mutation SNP C C A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr8:70512953C>A ENST00000260128.4 + 9 1567 c.850C>A c.(850-852)Cag>Aag p.Q284K SULF1_ENST00000458141.2_Missense_Mutation_p.Q284K|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.Q284K|SULF1_ENST00000402687.4_Missense_Mutation_p.Q284K NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 284 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CAAAAGGCTCCAGACTTTGAT 0.433000 10 178 4.68919e-08 5.49305e-08 1 1 0 HOOK2 29911 broad.mit.edu 37 19 12874211 12874211 + Missense_Mutation SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr19:12874211C>T ENST00000264827.5 - 22 2209 c.2039G>A c.(2038-2040)cGg>cAg p.R680Q HOOK2_ENST00000397668.3_Missense_Mutation_p.R682Q NM_001100176.1 NP_001093646.1 Q96ED9 HOOK2_HUMAN hook microtubule-tethering protein 2 682 Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1) 20 GGCAGGCGCCCGCTCCTCCCC 0.642000 15 105 0 0 1 0 0 NXF1 10482 broad.mit.edu 37 11 62572815 62572815 + Missense_Mutation SNP C C G TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr11:62572815C>G ENST00000531709.2 - 1 127 c.14G>C c.(13-15)gGg>gCg p.G5A NXF1_ENST00000532297.1_Missense_Mutation_p.G5A|NXF1_ENST00000294172.2_Missense_Mutation_p.G5A|NXF1_ENST00000531131.1_5'UTR|NXF1_ENST00000439713.2_Missense_Mutation_p.G5A NM_001081491.1 NP_001074960.1 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 5 Interaction with THOC4. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GTACGACTTCCCCTCGTCCGC 0.682000 21 48 0 0 1 0 0 GAB1 2549 broad.mit.edu 37 4 144359596 144359596 + Silent SNP G G A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr4:144359596G>A ENST00000262995.4 + 4 1465 c.1038G>A c.(1036-1038)ccG>ccA p.P346P GAB1_ENST00000262994.4_Silent_p.P346P|GAB1_ENST00000505913.1_Silent_p.P243P NM_207123.2 NP_997006.1 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 346 cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity p.P346P(1) breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 30 all_hematologic(180;0.158) CTCGGCCACCGAAACCACATC 0.493000 5 68 0 0 1 0 0 IRF7 3665 broad.mit.edu 37 11 613104 613104 + Missense_Mutation SNP G G T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr11:613104G>T ENST00000397566.1 - 8 1699 c.1290C>A c.(1288-1290)ttC>ttA p.F430L IRF7_ENST00000330243.5_Missense_Mutation_p.F430L|IRF7_ENST00000397570.1_Missense_Mutation_p.F388L|IRF7_ENST00000397574.2_Missense_Mutation_p.F417L|IRF7_ENST00000397562.3_Missense_Mutation_p.F124L|IRF7_ENST00000525445.1_Missense_Mutation_p.F311L|IRF7_ENST00000348655.6_Missense_Mutation_p.F388L NM_004031.2 NP_004022.2 Q92985 IRF7_HUMAN interferon regulatory factor 7 417 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCCGTGCCCGGAATTCCACCA 0.652000 16 30 0.000422831 0.000448347 1 1 0 POMGNT1 55624 broad.mit.edu 37 1 46654596 46654596 + Missense_Mutation SNP G G A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr1:46654596G>A ENST00000371992.1 - 23 2692 c.2042C>T c.(2041-2043)cCg>cTg p.P681L POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371984.3_3'UTR|POMGNT1_ENST00000535522.1_3'UTR|POMGNT1_ENST00000371986.3_Missense_Mutation_p.P681L NM_001243766.1 NP_001230695 Q8WZA1 PMGT1_HUMAN protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0 protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(166;0.155) CTCCAGGTTCGGCCTGTTTTC 0.547000 6 52 0 0 1 0 0 NLGN1 22871 broad.mit.edu 37 3 173525587 173525587 + Missense_Mutation SNP T T G TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr3:173525587T>G ENST00000457714.1 + 4 1040 c.611T>G c.(610-612)aTc>aGc p.I204S NLGN1_ENST00000545397.1_Missense_Mutation_p.I204S|NLGN1_ENST00000361589.4_Missense_Mutation_p.I204S|NLGN1_ENST00000401917.3_Missense_Mutation_p.I244S NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 221 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) GGCAATGTGATCGTCATCACA 0.408000 18 46 0 0 1 0 0 SLC27A2 11001 broad.mit.edu 37 15 50521168 50521168 + Missense_Mutation SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr15:50521168C>T ENST00000267842.5 + 8 1716 c.1484C>T c.(1483-1485)aCt>aTt p.T495I SLC27A2_ENST00000544960.1_Missense_Mutation_p.T260I|SLC27A2_ENST00000380902.4_Missense_Mutation_p.T442I NM_003645.3 NP_003636.2 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 495 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) GTGGCCACCACTGAAGTTGCT 0.458000 19 31 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127610357 127610357 + Missense_Mutation SNP G G T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr5:127610357G>T ENST00000508053.1 - 66 8587 c.7613C>A c.(7612-7614)aCa>aAa p.T2538K FBN2_ENST00000262464.4_Missense_Mutation_p.T2538K P35556 FBN2_HUMAN fibrillin 2 2538 EGF-like 43; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) ATGCTGCTTTGTTTGACATTC 0.458000 5 48 0.0215528 0.0220916 1 1 0 FLG 2312 broad.mit.edu 37 1 152284326 152284326 + Silent SNP A A C TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr1:152284326A>C ENST00000368799.1 - 3 3071 c.3036T>G c.(3034-3036)acT>acG p.T1012T FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1012 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CACCAGAGGAAGTCTCTGCGT 0.587000 Ichthyosis 162 338 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152348933 152348933 + Missense_Mutation SNP G G A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr2:152348933G>A ENST00000427231.2 - 177 25043 c.24841C>T c.(24841-24843)Cgg>Tgg p.R8281W NEB_ENST00000498015.2_5'UTR|RIF1_ENST00000457745.1_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.R8281W|NEB_ENST00000172853.10_Missense_Mutation_p.R6425W|NEB_ENST00000397336.2_Missense_Mutation_p.R256W|NEB_ENST00000509223.2_Missense_Mutation_p.R194W|NEB_ENST00000409198.1_Missense_Mutation_p.R6425W|NEB_ENST00000397345.3_Missense_Mutation_p.R8281W|NEB_ENST00000604864.1_Missense_Mutation_p.R8281W NM_001164507.1|NM_001271208.1 NP_001157979|NP_001258137.1 P20929 NEBU_HUMAN nebulin 6593 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TCCCTCACCCGTCTCATCTCG 0.473000 5 42 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131880114 131880114 + Missense_Mutation SNP G G C TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr8:131880114G>C ENST00000286355.5 - 9 4280 c.2188C>G c.(2188-2190)Caa>Gaa p.Q730E ADCY8_ENST00000377928.3_Intron NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 730 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AGCAAACTTTGTATTGCCGTG 0.353000 HNSCC(32;0.087) 36 25 0 0 1 0 0 PC 5091 broad.mit.edu 37 11 66636366 66636366 + Missense_Mutation SNP C C A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr11:66636366C>A ENST00000393960.1 - 10 1254 c.973G>T c.(973-975)Gtc>Ttc p.V325F PC_ENST00000355677.3_Missense_Mutation_p.V325F|PC_ENST00000524491.1_Missense_Mutation_p.V285F|PC_ENST00000393955.2_Missense_Mutation_p.V325F|PC_ENST00000393958.2_Missense_Mutation_p.V325F NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 325 ATP-grasp.|Biotin carboxylation. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CGGGAGTTGACCTCGATGAAG 0.662000 40 59 5.04308e-16 6.46145e-16 1 1 0 PRDM9 56979 broad.mit.edu 37 5 23509685 23509685 + Missense_Mutation SNP A A C TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr5:23509685A>C ENST00000296682.3 + 3 358 c.176A>C c.(175-177)aAt>aCt p.N59T NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 59 KRAB-related. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AGGAACTATAATGCACTGATT 0.433000 HNSCC(3;0.000094) 62 87 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66433576 66433576 + Missense_Mutation SNP G G A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr3:66433576G>A ENST00000383703.3 - 16 2855 c.2252C>T c.(2251-2253)gCt>gTt p.A751V SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000273261.3_Missense_Mutation_p.A774V|LRIG1_ENST00000496559.2_5'UTR Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 774 Ig-like C2-type 3. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) CTGGCTGTGAGCTCGCTCCGT 0.612000 45 126 0 0 1 0 0 LGALS16 148003 broad.mit.edu 37 19 40148588 40148588 + Silent SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr19:40148588C>T ENST00000392051.3 + 2 149 c.81C>T c.(79-81)atC>atT p.I27I NM_001190441.1 NP_001177370.1 A8MUM7 A8MUM7_HUMAN lectin, galactoside-binding, soluble, 16 27 sugar binding GGACACTGATCGACTCTTCTA 0.468000 17 33 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54527298 54527298 + Nonsense_Mutation SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr15:54527298C>T ENST00000545554.1 + 4 3142 c.3142C>T c.(3142-3144)Cga>Tga p.R1048* UNC13C_ENST00000260323.11_Nonsense_Mutation_p.R1048*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.R1048* Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1048 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GCCTATTGTCCGAGATGTGGT 0.383000 6 28 0 0 1 0 0 CPZ 8532 broad.mit.edu 37 4 8608502 8608502 + Missense_Mutation SNP C C A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr4:8608502C>A ENST00000382480.2 + 6 1334 c.534C>A c.(532-534)aaC>aaA p.N178K CPZ_ENST00000360986.4_Missense_Mutation_p.N315K|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.N304K NM_001014448.2 NP_001014448 Q66K79 CBPZ_HUMAN carboxypeptidase Z 315 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GGAGGCAGAACGCGCAGAACC 0.652000 19 63 5.03518e-11 6.25583e-11 1 1 0 PIWIL2 55124 broad.mit.edu 37 8 22137054 22137054 + Missense_Mutation SNP G G A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr8:22137054G>A ENST00000356766.6 + 2 303 c.155G>A c.(154-156)gGa>gAa p.G52E PIWIL2_ENST00000521356.1_Missense_Mutation_p.G52E|PIWIL2_ENST00000454009.2_Missense_Mutation_p.G52E NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 52 DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) CATGTATTTGGAAAGCCAGAG 0.572000 28 65 0 0 1 0 0 MYO9B 4650 broad.mit.edu 37 19 17316122 17316122 + Missense_Mutation SNP T T C TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr19:17316122T>C ENST00000595618.1 + 31 5193 c.5041T>C c.(5041-5043)Tgc>Cgc p.C1681R MYO9B_ENST00000397274.2_Missense_Mutation_p.C1681R|MYO9B_ENST00000594824.1_Missense_Mutation_p.C1681R NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1681 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 TCAGAGCCACTGCTCCTACAC 0.572000 20 58 0 0 1 0 0 MATN3 4148 broad.mit.edu 37 2 20197015 20197015 + Missense_Mutation SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr2:20197015C>T ENST00000407540.3 - 6 1236 c.1174G>A c.(1174-1176)Gac>Aac p.D392N AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Missense_Mutation_p.D350N NM_002381.4 NP_002372.1 O15232 MATN3_HUMAN matrilin 3 392 EGF-like 4. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCACACTTGTCACGGACTGAC 0.468000 3 12 0 0 1 0 0 BMP6 654 broad.mit.edu 37 6 7727541 7727541 + Missense_Mutation SNP A A T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr6:7727541A>T ENST00000283147.6 + 1 512 c.353A>T c.(352-354)cAg>cTg p.Q118L NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 118 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity p.Q118L(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) cagcagcagcagcTGCCTCGC 0.731000 3 22 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459724 107459724 + Missense_Mutation SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr2:107459724C>T ENST00000409382.3 - 2 1320 c.710G>A c.(709-711)cGc>cAc p.R237H ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R237H|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R237H NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 237 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.R237L(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CCCGCGGAAGCGCACCCCGTG 0.687000 6 8 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23907631 23907631 + Missense_Mutation SNP G G T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr13:23907631G>T ENST00000382298.3 - 10 10972 c.10384C>A c.(10384-10386)Cta>Ata p.L3462I SACS_ENST00000402364.1_Missense_Mutation_p.L2712I|SACS_ENST00000382292.3_Missense_Mutation_p.L3462I NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3462 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) ACCTCATATAGTTCTTTTAAG 0.338000 4 34 1 1 1 1 0 GRIP1 23426 broad.mit.edu 37 12 66771061 66771061 + Missense_Mutation SNP C C G TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr12:66771061C>G ENST00000359742.4 - 21 2866 c.2626G>C c.(2626-2628)Gca>Cca p.A876P GRIP1_ENST00000398016.3_Missense_Mutation_p.A824P|GRIP1_ENST00000286445.7_Missense_Mutation_p.A876P Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 876 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) GCAGCCCCTGCAAAACTGTTG 0.488000 17 127 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169139183 169139183 + Missense_Mutation SNP G G T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr5:169139183G>T ENST00000256935.8 + 17 1695 c.1615G>T c.(1615-1617)Ggg>Tgg p.G539W DOCK2_ENST00000520908.1_Intron|DOCK2_ENST00000540750.1_Intron NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 539 DHR-1. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAAAGAAGATGGGACTACTCT 0.448000 7 58 0.000274275 0.000295928 1 1 0 SLC6A1 6529 broad.mit.edu 37 3 11061975 11061975 + Missense_Mutation SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr3:11061975C>T ENST00000287766.4 + 6 969 c.548C>T c.(547-549)aCc>aTc p.T183I SLC6A1_ENST00000536032.1_Missense_Mutation_p.T5I NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 183 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) GTCAACACTACCAACATGACC 0.587000 5 16 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25959156 25959156 + Missense_Mutation SNP T T A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr15:25959156T>A ENST00000356865.6 - 10 2120 c.2009A>T c.(2008-2010)tAc>tTc p.Y670F NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 670 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) CTGGCTGCTGTAGCCGTTGCT 0.687000 16 38 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46826155 46826155 + Missense_Mutation SNP C C A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr6:46826155C>A ENST00000283296.7 - 17 3773 c.3485G>T c.(3484-3486)tGt>tTt p.C1162F GPR116_ENST00000545669.1_Missense_Mutation_p.C591F|GPR116_ENST00000265417.7_Missense_Mutation_p.C1162F|GPR116_ENST00000362015.4_Missense_Mutation_p.C1162F|GPR116_ENST00000456426.2_Missense_Mutation_p.C1020F NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 1162 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) GTTGAGCCAACAGACATTCTT 0.557000 13 42 2.27111e-07 2.61072e-07 1 1 0 ETV1 2115 broad.mit.edu 37 7 13935606 13935606 + Missense_Mutation SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr7:13935606C>T ENST00000343495.5 - 13 2003 c.1265G>A c.(1264-1266)cGt>cAt p.R422H ETV1_ENST00000430479.1_Missense_Mutation_p.R440H|ETV1_ENST00000405192.2_Missense_Mutation_p.R417H|ETV1_ENST00000405218.2_Missense_Mutation_p.R440H|ETV1_ENST00000399357.3_Missense_Mutation_p.R337H|ETV1_ENST00000403685.1_Missense_Mutation_p.R422H|ETV1_ENST00000405358.4_Missense_Mutation_p.R454H|ETV1_ENST00000242066.5_Missense_Mutation_p.R422H|ETV1_ENST00000420159.2_Missense_Mutation_p.R382H|ETV1_ENST00000403527.1_Missense_Mutation_p.R400H P50549 ETV1_HUMAN ets variant 1 440 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 GTTGATGTGACGTTCCATGTC 0.517000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 9 19 0 0 1 0 0 APOL2 23780 broad.mit.edu 37 22 36624228 36624228 + Missense_Mutation SNP T T C TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr22:36624228T>C ENST00000249066.6 - 6 712 c.236A>G c.(235-237)cAg>cGg p.Q79R APOL2_ENST00000358502.5_Missense_Mutation_p.Q79R|APOL2_ENST00000451256.2_Missense_Mutation_p.Q191R NM_145637.1 NP_663612.1 Q9BQE5 APOL2_HUMAN apolipoprotein L, 2 79 acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development endoplasmic reticulum membrane|extracellular region high-density lipoprotein particle binding|lipid binding|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2) 9 CAAAAACCACTGCCTGTGCTG 0.512000 33 86 0 0 1 0 0 MIDN 90007 broad.mit.edu 37 19 1257172 1257172 + Silent SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr19:1257172C>T ENST00000300952.2 + 8 1823 c.1308C>T c.(1306-1308)ggC>ggT p.G436G MIDN_ENST00000591446.2_Silent_p.G436G NM_177401.4 NP_796375.3 Q504T8 MIDN_HUMAN midnolin 436 nucleolus NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) GGGGCGGCGGCAGCCCCAGCG 0.687000 27 68 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75072402 75072402 + Missense_Mutation SNP C C A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr1:75072402C>A ENST00000326665.5 - 10 1590 c.1372G>T c.(1372-1374)Gct>Tct p.A458S RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.A261S NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 458 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 ATTTCTTGAGCTGAAAATTTG 0.418000 15 88 2.32078e-09 2.77142e-09 1 1 0 UTP20 27340 broad.mit.edu 37 12 101760367 101760367 + Missense_Mutation SNP C C G TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr12:101760367C>G ENST00000261637.4 + 47 6331 c.6157C>G c.(6157-6159)Cta>Gta p.L2053V NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 2053 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 AGATCCACGTCTACCACCCCA 0.502000 34 111 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57325887 57325887 + Missense_Mutation SNP G G A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr19:57325887G>A ENST00000326441.9 - 10 4286 c.3923C>T c.(3922-3924)cCc>cTc p.P1308L PEG3_ENST00000593695.1_Missense_Mutation_p.P1182L|PEG3_ENST00000598410.1_Missense_Mutation_p.P1184L|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.P1308L NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1308 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GTACTCATAGGGCTCATTCTT 0.448000 4 48 0 0 1 0 0 TBL3 10607 broad.mit.edu 37 16 2025614 2025614 + Missense_Mutation SNP A A C TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr16:2025614A>C ENST00000568546.1 + 10 1018 c.890A>C c.(889-891)cAc>cCc p.H297P NM_006453.2 NP_006444.2 Q12788 TBL3_HUMAN transducin (beta)-like 3 297 G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 18 GAGCTGACCCACTGCACCCTG 0.692000 4 27 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811108 140811108 + Silent SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr4:140811108C>T ENST00000509479.2 - 2 2338 c.1482G>A c.(1480-1482)caG>caA p.Q494Q MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q NM_018717.4 NP_061187 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 494 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.537000 4 38 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120139706 120139706 + Missense_Mutation SNP T T C TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr12:120139706T>C ENST00000392521.2 - 42 5417 c.5362A>G c.(5362-5364)Att>Gtt p.I1788V CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.I1746V NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1746 CNH. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TTGGTTCCAATGAGGATACTG 0.512000 44 88 0 0 1 0 0 RAB31 11031 broad.mit.edu 37 18 9859240 9859240 + Missense_Mutation SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr18:9859240C>T ENST00000578921.1 + 7 747 c.506C>T c.(505-507)cCc>cTc p.P169L RAB31_ENST00000577284.1_3'UTR NM_006868.3 NP_006859.2 Q13636 RAB31_HUMAN RAB31, member RAS oncogene family 168 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1) 10 CAGATCCCACCCTTGGACCCC 0.542000 30 47 0 0 1 0 0 SLC5A9 200010 broad.mit.edu 37 1 48708224 48708224 + Silent SNP C C T rs147141681 TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr1:48708224C>T ENST00000236495.5 + 14 1898 c.1848C>T c.(1846-1848)gcC>gcT p.A616A SLC5A9_ENST00000438567.2_Silent_p.A591A|SLC5A9_ENST00000471020.1_3'UTR|SLC5A9_ENST00000533824.1_Silent_p.A612A NM_001135181.1 NP_001128653.1 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 591 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 AGAGGCCAGCCGGGGAGTGCC 0.652000 10 60 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8976428 8976428 + Missense_Mutation SNP C C G TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr19:8976428C>G ENST00000397910.4 - 75 42603 c.42400G>C c.(42400-42402)Gag>Cag p.E14134Q MUC16_ENST00000596956.1_Intron|MUC16_ENST00000380951.5_Missense_Mutation_p.E775Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 14165 SEA 14. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.E14134Q(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCATCCTTCTCAGGCCTGGGG 0.617000 6 26 0 0 1 0 0 ATAD3C 219293 broad.mit.edu 37 1 1390875 1390875 + Silent SNP C C T rs1781147 by1000genomes TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr1:1390875C>T ENST00000378785.2 + 5 1409 c.414C>T c.(412-414)gaC>gaT p.D138D NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C 138 ATP binding|nucleoside-triphosphatase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GACCCCAGGACGTGCTGGAGG 0.677000 3 35 0 0 1 0 0 RASAL3 64926 broad.mit.edu 37 19 15564277 15564277 + Missense_Mutation SNP C C G TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr19:15564277C>G ENST00000343625.7 - 15 2396 c.2311G>C c.(2311-2313)Gcc>Ccc p.A771P NM_022904.1 NP_075055.1 Q86YV0 RASL3_HUMAN RAS protein activator like 3 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 TCCCGGGGGGCCAGGAAGCCG 0.682000 3 10 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 134034365 134034365 + Silent SNP C C A rs144875913 TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr8:134034365C>A ENST00000220616.4 + 40 7046 c.7006C>A c.(7006-7008)Cga>Aga p.R2336R TG_ENST00000377869.1_Silent_p.R2279R|TG_ENST00000519543.1_Silent_p.R469R|TG_ENST00000542445.1_Silent_p.R706R NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2336 R -> Q (in TDH3). hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TGCCAGCTACCGAGTGGGTGT 0.607000 9 199 4.68919e-08 5.49305e-08 1 1 0 TMEM132B 114795 broad.mit.edu 37 12 126135303 126135303 + Missense_Mutation SNP C C A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr12:126135303C>A ENST00000299308.3 + 7 1711 c.1703C>A c.(1702-1704)gCc>gAc p.A568D TMEM132B_ENST00000535886.1_Missense_Mutation_p.A80D NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 568 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TACCAGCACGCCACAGTGCGT 0.582000 19 37 1.01871e-10 1.25302e-10 1 1 0 DISP1 84976 broad.mit.edu 37 1 223178584 223178584 + Missense_Mutation SNP A A G TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr1:223178584A>G ENST00000284476.6 + 8 4009 c.3845A>G c.(3844-3846)tAt>tGt p.Y1282C NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 1282 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) CACTTGAACTATGGCCCACAC 0.532000 11 117 0 0 1 0 0 MDGA2 161357 broad.mit.edu 37 14 47504364 47504364 + Missense_Mutation SNP C C A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr14:47504364C>A ENST00000426342.1 - 8 1521 c.775G>T c.(775-777)Gat>Tat p.D259Y MDGA2_ENST00000399232.2_Missense_Mutation_p.D488Y|MDGA2_ENST00000357362.3_Missense_Mutation_p.D259Y|MDGA2_ENST00000439988.3_Missense_Mutation_p.D557Y NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 488 Ig-like 3. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 ATTGATCCATCAGGCATTGCA 0.418000 15 82 1.15088e-07 1.33545e-07 1 1 0 ZNF768 79724 broad.mit.edu 37 16 30535972 30535972 + Missense_Mutation SNP A A G TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr16:30535972A>G ENST00000380412.5 - 2 1664 c.1489T>C c.(1489-1491)Tcc>Ccc p.S497P ZNF768_ENST00000562803.1_Missense_Mutation_p.S466P NM_024671.3 NP_078947.3 Q9H5H4 ZN768_HUMAN zinc finger protein 768 497 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 AGCGTGGAGGAGCGGCAGAAG 0.647000 8 46 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152275394 152275394 + Missense_Mutation SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr1:152275394C>T ENST00000368799.1 - 3 12003 c.11968G>A c.(11968-11970)Ggg>Agg p.G3990R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3990 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.G3990W(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCTAAACCCGGATTCACCA 0.403000 Ichthyosis 28 68 0 0 1 0 0 MPHOSPH9 10198 broad.mit.edu 37 12 123706121 123706121 + Missense_Mutation SNP C C A rs147364688 TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr12:123706121C>A ENST00000606320.1 - 5 876 c.670G>T c.(670-672)Gtt>Ttt p.V224F MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.V72F|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.V72F|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.V194F Q99550 MPP9_HUMAN M-phase phosphoprotein 9 72 M phase of mitotic cell cycle centriole|Golgi membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) CCTTTGGGAACATCTATGTGC 0.418000 36 45 5.8336e-16 7.39725e-16 1 1 0 C1orf173 127254 broad.mit.edu 37 1 75038381 75038381 + Missense_Mutation SNP G G A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr1:75038381G>A ENST00000326665.5 - 14 3231 c.3013C>T c.(3013-3015)Cgg>Tgg p.R1005W C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1005 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 ACCTGCATCCGGCTTGCCTCT 0.542000 28 41 0 0 1 0 0 TAF5 6877 broad.mit.edu 37 10 105128280 105128280 + Silent SNP C C A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr10:105128280C>A ENST00000369839.3 + 1 557 c.534C>A c.(532-534)gcC>gcA p.A178A TAF5_ENST00000351396.4_Silent_p.A178A NM_006951.3 NP_008882.2 Q15542 TAF5_HUMAN TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa 178 histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2) 15 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) CAGGTTCAGCCTCAGGTCCTG 0.741000 3 31 0.115264 0.116209 1 1 0 MGAT2 4247 broad.mit.edu 37 14 50089276 50089276 + Silent SNP G G T rs144122741 TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr14:50089276G>T ENST00000305386.2 + 1 1788 c.1290G>T c.(1288-1290)ggG>ggT p.G430G RP11-649E7.5_ENST00000555043.1_RNA NM_002408.3 NP_002399.1 Q10469 MGAT2_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 430 oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|Golgi stack|integral to membrane|membrane fraction alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(6) 11 all_epithelial(31;0.0021)|Breast(41;0.0124) AAAATGGAGGGTGGGGAGATA 0.358000 11 34 2.61681e-11 3.28437e-11 1 1 0 SLC22A2 6582 broad.mit.edu 37 6 160679756 160679756 + Missense_Mutation SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr6:160679756C>T ENST00000366953.3 - 1 292 c.34G>A c.(34-36)Gga>Aga p.G12R SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Intron NM_003058.3 NP_003049.2 O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 12 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) AACTCCCCTCCATGCTCCAGG 0.617000 9 45 0 0 1 0 0 CATSPER2 117155 broad.mit.edu 37 15 43931171 43931171 + Missense_Mutation SNP G G A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr15:43931171G>A ENST00000396879.1 - 8 885 c.773C>T c.(772-774)aCt>aTt p.T258I STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000381761.1_Missense_Mutation_p.T264I|CATSPER2_ENST00000321596.5_Missense_Mutation_p.T258I|CATSPER2_ENST00000354127.4_Missense_Mutation_p.T258I|CATSPER2_ENST00000355438.2_Missense_Mutation_p.T258I NM_001282309.1 NP_001269238.1 Q96P56 CTSR2_HUMAN cation channel, sperm associated 2 258 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) GTAGACACCAGTCACAGCAAA 0.512000 7 43 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27537202 27537202 + RNA SNP G G T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr10:27537202G>T ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA GAACACTCCTGGATTCTCTAC 0.478000 10 70 0.0692343 0.0703787 1 1 0 FMOD 2331 broad.mit.edu 37 1 203317224 203317224 + Missense_Mutation SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr1:203317224C>T ENST00000354955.4 - 2 638 c.175G>A c.(175-177)Gaa>Aaa p.E59K FMOD_ENST00000493296.1_Intron NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 59 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) GCTGGCCCTTCATCCACCCCA 0.612000 12 38 0 0 1 0 0 SFTA3 253970 broad.mit.edu 37 14 36946256 36946256 + Missense_Mutation SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr14:36946256C>T ENST00000518529.2 - 3 856 c.181G>A c.(181-183)Gtg>Atg p.V61M SFTA3_ENST00000518987.1_Intron|RP11-896J10.3_ENST00000521945.1_RNA NM_001101341.1 NP_001094811.1 P0C7M3 SFTA3_HUMAN surfactant associated 3 61 breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1) 7 GGACTTGGCACGCAAACAGCG 0.522000 22 89 0 0 1 0 0 HNF1B 6928 broad.mit.edu 37 17 36093623 36093623 + Silent SNP A A G TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr17:36093623A>G ENST00000225893.4 - 3 1097 c.736T>C c.(736-738)Ttg>Ctg p.L246L HNF1B_ENST00000427275.2_Silent_p.L220L|HNF1B_ENST00000561193.1_Silent_p.L220L|HNF1B_ENST00000560016.1_Silent_p.L246L NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 246 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) GCCTGGTACAAGATTTGCTGG 0.587000 19 122 0 0 1 0 0 CLPTM1L 81037 broad.mit.edu 37 5 1321774 1321774 + Silent SNP C C A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr5:1321774C>A ENST00000320895.5 - 15 1649 c.1392G>T c.(1390-1392)ctG>ctT p.L464L CLPTM1L_ENST00000320927.6_Silent_p.L428L|CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000507807.1_Silent_p.L295L NM_030782.3 NP_110409.2 Q96KA5 CLP1L_HUMAN CLPTM1-like 464 apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) CCTTCCAGGGCAGATGTGCCA 0.622000 12 126 0.00185496 0.00195008 1 1 0 RAD21 5885 broad.mit.edu 37 8 117878903 117878903 + Silent SNP A A G TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr8:117878903A>G ENST00000297338.2 - 2 353 c.66T>C c.(64-66)caT>caC p.H22H RAD21_ENST00000523547.1_5'UTR NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 22 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) TCTTATCCCAATGGGCCGCTA 0.428000 4 64 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158623143 158623143 + Missense_Mutation SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr1:158623143C>T ENST00000368147.4 - 22 3289 c.3109G>A c.(3109-3111)Gat>Aat p.D1037N NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 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) GGGAACTCATCGTGGGCCAGT 0.572000 13 82 0 0 1 0 0 FTCD 10841 broad.mit.edu 37 21 47556892 47556892 + Nonsense_Mutation SNP C C A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr21:47556892C>A ENST00000397748.1 - 14 1658 c.1615G>T c.(1615-1617)Gag>Tag p.E539* FTCD_ENST00000397743.1_3'UTR|FTCD_ENST00000359679.2_Nonsense_Mutation_p.E539*|FTCD_ENST00000355384.2_Intron|FTCD_ENST00000498355.2_Splice_Site|FTCD_ENST00000291670.5_Intron|FTCD_ENST00000397746.3_3'UTR O95954 FTCD_HUMAN formimidoyltransferase cyclodeaminase 46 Cyclodeaminase/cyclohydrolase (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3) 19 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) GGAGAGGCCTCCCGCACCGTC 0.662000 13 42 2.31682e-05 2.56729e-05 1 1 0 TMEM9B 56674 broad.mit.edu 37 11 8977775 8977775 + Missense_Mutation SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr11:8977775C>T ENST00000534025.1 - 3 727 c.268G>A c.(268-270)Gaa>Aaa p.E90K TMEM9B_ENST00000528117.1_Missense_Mutation_p.E16K|TMEM9B_ENST00000309134.5_Missense_Mutation_p.E16K|TMEM9B_ENST00000525069.1_Missense_Mutation_p.E16K NM_020644.1 NP_065695.1 Q9NQ34 TMM9B_HUMAN TMEM9 domain family, member B 90 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane signal transducer activity breast(1)|lung(1)|prostate(1) 3 Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237) TATTTGCATTCACAGCGTAGA 0.423000 18 20 0 0 1 0 0 BMPR1B 658 broad.mit.edu 37 4 96036889 96036889 + Missense_Mutation SNP C C T rs140499888 byFrequency TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr4:96036889C>T ENST00000502683.1 + 4 516 c.305C>T c.(304-306)aCg>aTg p.T102M BMPR1B_ENST00000264568.4_Silent_p.N100N|BMPR1B_ENST00000440890.2_Silent_p.N130N|BMPR1B_ENST00000515059.1_Silent_p.N100N|BMPR1B_ENST00000394931.1_Silent_p.N100N O00238 BMR1B_HUMAN bone morphogenetic protein receptor, type IB 0 BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) CAGAAAGGAACGAATGTAATA 0.398000 9 73 0 0 1 0 0 SLC12A2 6558 broad.mit.edu 37 5 127484562 127484562 + Missense_Mutation SNP C C G TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr5:127484562C>G ENST00000262461.2 + 12 2187 c.1998C>G c.(1996-1998)atC>atG p.I666M SLC12A2_ENST00000343225.4_Missense_Mutation_p.I666M NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 666 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) TTGGATTCATCTTAATTGGTT 0.308000 8 100 0 0 1 0 0 SLC12A2 6558 broad.mit.edu 37 5 127483419 127483419 + Nonsense_Mutation SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr5:127483419C>T ENST00000262461.2 + 11 2068 c.1879C>T c.(1879-1881)Cag>Tag p.Q627* SLC12A2_ENST00000343225.4_Nonsense_Mutation_p.Q627* NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 627 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) CAAAATATTTCAGGTAAGTGT 0.333000 4 37 0 0 1 0 0 REG1A 5967 broad.mit.edu 37 2 79350028 79350028 + Missense_Mutation SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr2:79350028C>T ENST00000233735.1 + 5 486 c.383C>T c.(382-384)gCc>gTc p.A128V NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 128 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 GGCATTGGAGCCCCAAGCAGT 0.572000 51 91 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60024360 60024360 + Missense_Mutation SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr17:60024360C>T ENST00000397786.2 - 29 6386 c.6310G>A c.(6310-6312)Gtg>Atg p.V2104M NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 2104 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 ACTGAAGGCACGTGGAGGTGC 0.418000 17 93 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127653946 127653946 + Missense_Mutation SNP C C A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr5:127653946C>A ENST00000508053.1 - 42 5586 c.4612G>T c.(4612-4614)Gat>Tat p.D1538Y FBN2_ENST00000262464.4_Missense_Mutation_p.D1538Y P35556 FBN2_HUMAN fibrillin 2 1538 EGF-like 26; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TTTATAGGATCTGCACACTCA 0.428000 16 113 6.94344e-10 8.45588e-10 1 1 0 MVD 4597 broad.mit.edu 37 16 88721706 88721706 + Silent SNP G G C TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr16:88721706G>C ENST00000301012.3 - 7 827 c.798C>G c.(796-798)acC>acG p.T266T NM_002461.1 NP_002452.1 P53602 MVD1_HUMAN mevalonate (diphospho) decarboxylase 266 cholesterol biosynthetic process|positive regulation of cell proliferation cytosol ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity endometrium(3)|large_intestine(1)|lung(7)|ovary(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.0478) TGTCGAGGCAGGTGGCGTGGA 0.647000 5 11 0 0 1 0 0 PAPD7 11044 broad.mit.edu 37 5 6743869 6743869 + Silent SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr5:6743869C>T ENST00000230859.6 + 6 540 c.411C>T c.(409-411)ttC>ttT p.F137F NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 137 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TGAAACAGTTCCTTCTGCAGA 0.333000 31 45 0 0 1 0 0 SLC12A2 6558 broad.mit.edu 37 5 127488425 127488425 + Missense_Mutation SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr5:127488425C>T ENST00000262461.2 + 15 2480 c.2291C>T c.(2290-2292)gCc>gTc p.A764V SLC12A2_ENST00000343225.4_Missense_Mutation_p.A764V NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 764 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) TCTACACAAGCCCTGACTTAC 0.413000 3 25 0 0 1 0 0 MMD2 221938 broad.mit.edu 37 7 4949617 4949617 + Silent SNP T T G TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr7:4949617T>G ENST00000404774.3 - 6 698 c.504A>C c.(502-504)gcA>gcC p.A168A MMD2_ENST00000406755.1_Intron|MMD2_ENST00000401401.3_Intron NM_001100600.1 NP_001094070.1 Q8IY49 PAQRA_HUMAN monocyte to macrophage differentiation-associated 2 168 integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) CCTTAGGACATGCCTCCCCAC 0.562000 21 81 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111416254 111416254 + Missense_Mutation SNP T T C TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr2:111416254T>C ENST00000535254.1 - 11 1349 c.1282A>G c.(1282-1284)Atg>Gtg p.M428V BUB1_ENST00000409311.1_Missense_Mutation_p.M448V|BUB1_ENST00000302759.6_Missense_Mutation_p.M448V NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 448 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) GCCTGAACCATTCCCAGTGAT 0.438000 13 34 0 0 1 0 0 OPA1 4976 broad.mit.edu 37 3 193353261 193353261 + Nonsense_Mutation SNP A A T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr3:193353261A>T ENST00000361510.2 + 9 1132 c.898A>T c.(898-900)Aaa>Taa p.K300* OPA1_ENST00000361828.2_Nonsense_Mutation_p.K263*|OPA1_ENST00000361715.2_Nonsense_Mutation_p.K264*|OPA1_ENST00000361908.3_Nonsense_Mutation_p.K282*|OPA1_ENST00000361150.2_Nonsense_Mutation_p.K246*|OPA1_ENST00000392438.3_Nonsense_Mutation_p.K245* NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 245 G -> E (in OPA1). apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) AGAATTGAGAAAATTAGTATT 0.303000 14 51 0 0 1 0 0 MTDH 92140 broad.mit.edu 37 8 98718944 98718944 + Missense_Mutation SNP T T G TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr8:98718944T>G ENST00000336273.3 + 8 1566 c.1238T>G c.(1237-1239)cTa>cGa p.L413R MTDH_ENST00000519934.1_Missense_Mutation_p.L357R NM_178812.3 NP_848927.2 Q86UE4 LYRIC_HUMAN metadherin 413 Lung-homing for mammary tumors (By similarity). lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) GCTTCACTTCTAAAGTCCCAG 0.438000 26 256 0 0 1 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99110164 99110164 + Missense_Mutation SNP A A T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr7:99110164A>T ENST00000394170.2 + 3 754 c.503A>T c.(502-504)gAc>gTc p.D168V ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.D168V|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.D168V NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 168 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) CTGACCGTGGACACCCAGCCT 0.567000 20 34 0 0 1 0 0 LONP2 83752 broad.mit.edu 37 16 48382162 48382162 + Silent SNP C C A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr16:48382162C>A ENST00000285737.4 + 14 2391 c.2298C>A c.(2296-2298)gcC>gcA p.A766A LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Silent_p.A722A NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal 766 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 CAGATGTAGCCATGACTGGAG 0.373000 35 80 2.05212e-20 2.71409e-20 1 1 0 CDH13 1012 broad.mit.edu 37 16 83711832 83711832 + Missense_Mutation SNP C C A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr16:83711832C>A ENST00000566620.1 + 10 1594 c.1304C>A c.(1303-1305)tCt>tAt p.S435Y CDH13_ENST00000428848.3_Missense_Mutation_p.S396Y|CDH13_ENST00000268613.10_Missense_Mutation_p.S482Y NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 435 Cadherin 3. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) TATGAAATTTCTGCCTTCCAC 0.527000 10 33 3.86212e-05 4.24143e-05 1 1 0 PCLO 27445 broad.mit.edu 37 7 82584839 82584839 + Missense_Mutation SNP G G T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr7:82584839G>T ENST00000333891.9 - 5 5767 c.5430C>A c.(5428-5430)gaC>gaA p.D1810E PCLO_ENST00000423517.2_Missense_Mutation_p.D1810E NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTTCATCTTTGTCTTTCTTTG 0.393000 45 72 5.78141e-17 7.48541e-17 1 1 0 MYO18A 399687 broad.mit.edu 37 17 27414063 27414063 + Missense_Mutation SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr17:27414063C>T ENST00000527372.1 - 38 5783 c.5603G>A c.(5602-5604)cGg>cAg p.R1868Q MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000533112.1_Missense_Mutation_p.R1831Q|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1868Q|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1868Q|TIAF1_ENST00000408971.2_5'UTR NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 1868 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) TTCCTTCTCCCGGTTCTCGGC 0.597000 10 103 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126135302 126135302 + Missense_Mutation SNP G G A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr12:126135302G>A ENST00000299308.3 + 7 1710 c.1702G>A c.(1702-1704)Gcc>Acc p.A568T TMEM132B_ENST00000535886.1_Missense_Mutation_p.A80T NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 568 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GTACCAGCACGCCACAGTGCG 0.587000 21 36 0 0 1 0 0 PRDM10 56980 broad.mit.edu 37 11 129772240 129772240 + Missense_Mutation SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr11:129772240C>T ENST00000358825.5 - 22 3682 c.3451G>A c.(3451-3453)Gga>Aga p.G1151R PRDM10_ENST00000360871.3_Missense_Mutation_p.G1147R|PRDM10_ENST00000526082.1_Missense_Mutation_p.G1065R|PRDM10_ENST00000528746.1_Missense_Mutation_p.G1108R|PRDM10_ENST00000304538.6_Missense_Mutation_p.G1014R|PRDM10_ENST00000423662.2_Missense_Mutation_p.G1052R NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 1138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) TCGCTGCTTCCGTTCCCGTTG 0.547000 6 106 0 0 1 0 0 RRP7BP 91695 broad.mit.edu 37 22 42972590 42972590 + RNA SNP A A G rs137071 by1000genomes TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr22:42972590A>G ENST00000357802.2 - 0 515 GGTCGGGCACAGAGTCTGCGT 0.642000 3 15 0 0 1 0 0 SLC12A2 6558 broad.mit.edu 37 5 127483339 127483339 + Missense_Mutation SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr5:127483339C>T ENST00000262461.2 + 11 1988 c.1799C>T c.(1798-1800)aCa>aTa p.T600I SLC12A2_ENST00000343225.4_Missense_Mutation_p.T600I NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 600 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) TCAGGATTTACACCACTAATT 0.318000 7 47 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127653958 127653958 + Missense_Mutation SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr5:127653958C>T ENST00000508053.1 - 42 5574 c.4600G>A c.(4600-4602)Gat>Aat p.D1534N FBN2_ENST00000262464.4_Missense_Mutation_p.D1534N P35556 FBN2_HUMAN fibrillin 2 1534 EGF-like 26; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GCACACTCATCAATATCTAGG 0.418000 17 107 0 0 1 0 0 TBC1D13 54662 broad.mit.edu 37 9 131550683 131550683 + Missense_Mutation SNP A A C TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr9:131550683A>C ENST00000372648.5 + 2 244 c.94A>C c.(94-96)Agt>Cgt p.S32R TBC1D13_ENST00000539497.1_5'UTR|TBC1D13_ENST00000223865.8_Missense_Mutation_p.S32R|TBC1D13_ENST00000466056.1_3'UTR NM_018201.3 NP_060671.3 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 32 intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 6 ACTCAGCTTTAGTGGTAAGAA 0.532000 28 67 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127653964 127653964 + Splice_Site SNP C C T TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr5:127653964C>T ENST00000508053.1 - 42 5569 c.e42-1 FBN2_ENST00000262464.4_Splice_Site P35556 FBN2_HUMAN fibrillin 2 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TCATCAATATCTAGGAGAAGC 0.403000 18 106 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1653147 1653162 + Frame_Shift_Del DEL AGGGTGGTGGACACCA AGGGTGGTGGACACCA - TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr2:1653147_1653162delAGGGTGGTGGACACCA ENST00000252804.4 - 17 2440_2455 c.2390_2405delTGGTGTCCACCACCCT c.(2389-2406)ctggtgtccaccaccctgfs p.LVSTTL797fs NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 797 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CGTCCCGATCAGGGTGGTGGACACCAGGCGCGGCAT 0.644 19 47 --- --- --- --- OR7E62P 26479 broad.mit.edu 37 2 71283122 71283123 + RNA INS - - T rs35074164 TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr2:71283122_71283123insT ENST00000434990.1 - 0 61 GGCACCACCCCCAGGAGTGGTG 0.530 4 6 --- --- --- --- CTD-2503O16.4 0 broad.mit.edu 37 5 74302769 74302769 + RNA DEL A A - TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr5:74302769delA ENST00000505200.1 - 0 212 GAATAGGAGCAAAAGCTTTTA 0.418 2 4 --- --- --- --- NKX2-6 137814 broad.mit.edu 37 8 23560351 23560351 + Frame_Shift_Del DEL G G - TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr8:23560351delG ENST00000325017.3 - 2 518 c.519delC c.(517-519)tccfs p.S173fs NKX2-6_ENST00000418222.1_Frame_Shift_Del_p.S91fs NM_001136271.2 NP_001129743.2 C9JML6 C9JML6_HUMAN NK2 homeobox 6 91 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TGACCTGCGTGGACGTGAGCT 0.667 2 4 --- --- --- --- OR2S2 56656 broad.mit.edu 37 9 35957249 35957249 + Frame_Shift_Del DEL G G - TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr9:35957249delG ENST00000341959.2 - 1 902 c.847delC c.(847-849)cttfs p.L283fs NM_019897.2 NP_063950.2 Q9NQN1 OR2S1_HUMAN olfactory receptor, family 2, subfamily S, member 2 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194) CCATAGAAAAGGGGGATGAGT 0.498 40 42 --- --- --- --- MARK2 2011 broad.mit.edu 37 11 63676673 63676673 + Frame_Shift_Del DEL C C - TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr11:63676673delC ENST00000402010.2 + 19 2910 c.2331delC c.(2329-2331)aacfs p.N777fs MARK2_ENST00000508192.1_Frame_Shift_Del_p.N713fs|MARK2_ENST00000509502.2_Frame_Shift_Del_p.N734fs|MARK2_ENST00000350490.7_Frame_Shift_Del_p.N698fs|MARK2_ENST00000377809.4_Frame_Shift_Del_p.N762fs|MARK2_ENST00000413835.2_Frame_Shift_Del_p.N723fs|MARK2_ENST00000408948.3_Frame_Shift_Del_p.N680fs|MARK2_ENST00000315032.8_Frame_Shift_Del_p.N768fs|MARK2_ENST00000513765.2_Frame_Shift_Del_p.N744fs|MARK2_ENST00000425897.2_Frame_Shift_Del_p.N688fs|MARK2_ENST00000361128.5_Frame_Shift_Del_p.N708fs|MARK2_ENST00000377810.3_Frame_Shift_Del_p.N680fs|MARK2_ENST00000502399.3_Frame_Shift_Del_p.N767fs NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 777 KA1. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 CCTTCAAAAACATTGCCTCCA 0.627 32 84 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518687 108518689 + In_Frame_Del DEL CTG CTG - TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr13:108518687_108518689delCTG ENST00000375915.2 - 1 394_396 c.256_258delCAG c.(256-258)cagdel p.Q86del NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 86 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 gccgctgcctctgctgctgctgc 0.719 8 52 --- --- --- --- TRAV1-2 28692 broad.mit.edu 37 14 22111158 22111159 + RNA INS - - A TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr14:22111158_22111159insA ENST00000390423.2 + 0 50_51 CAGGAACTGGGAATGCAGTGCC 0.475 10 29 --- --- --- --- MYH6 4624 broad.mit.edu 37 14 23863486 23863486 + Frame_Shift_Del DEL C C - TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr14:23863486delC ENST00000405093.3 - 21 2546 c.2476delG c.(2476-2478)gtcfs p.V826fs MYH6_ENST00000356287.3_Frame_Shift_Del_p.V826fs NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 826 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 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) CAATTCTTGACCCCCATGAAG 0.547 9 43 --- --- --- --- ZNF747 65988 broad.mit.edu 37 16 30543876 30543876 + Frame_Shift_Del DEL G G - TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr16:30543876delG ENST00000535210.1 - 3 1109 c.937delC c.(937-939)ctgfs p.L313fs ZNF747_ENST00000252799.3_3'UTR|ZNF747_ENST00000568028.1_Frame_Shift_Del_p.L313fs|ZNF747_ENST00000569360.1_Frame_Shift_Del_p.L313fs|ZNF747_ENST00000395094.3_3'UTR Q9BV97 ZN747_HUMAN zinc finger protein 747 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding kidney(1)|lung(3)|prostate(1) 5 GGCGGGTCCAGGTCCCCGCGG 0.647 4 9 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7574017 7574022 + In_Frame_Del DEL CGCTCA CGCTCA - rs121912664 TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr17:7574017_7574022delCGCTCA ENST00000269305.4 - 10 1194_1199 c.1005_1010delTGAGCG c.(1003-1011)cgtgagcgc>cgc p.335_337RER>R TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_In_Frame_Del_p.335_337RER>R|TP53_ENST00000359597.4_Intron NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 335 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. R -> G (in a sporadic cancer; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R337C(18)|p.R337L(15)|p.0?(8)|p.E336*(5)|p.R337H(4)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.E336fs*12(1)|p.I332fs*5(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CATCTCGAAGCGCTCACGCCCACGGA 0.524 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 7 17 --- --- --- --- MYH4 4622 broad.mit.edu 37 17 10356182 10356185 + Frame_Shift_Del DEL TCCA TCCA - TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr17:10356182_10356185delTCCA ENST00000255381.2 - 25 3286_3289 c.3176_3179delTGGA c.(3175-3180)ctggagfs p.LE1059fs RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1059 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TAGGTCACCCTCCAGTTTTCTCTT 0.348 38 43 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gaggac>gac p.E710del SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.E466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.E173del NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 7 153 --- --- --- --- TBC1D20 128637 broad.mit.edu 37 20 419255 419265 + Frame_Shift_Del DEL TTAGGGGCCCA TTAGGGGCCCA - TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr20:419255_419265delTTAGGGGCCCA ENST00000354200.4 - 8 1324_1334 c.1177_1187delTGGGCCCCTAA c.(1177-1188)tgggcccctaagfs p.WAPK393fs TBC1D20_ENST00000461188.1_5'UTR NM_144628.2 NP_653229.1 Q96BZ9 TBC20_HUMAN TBC1 domain family, member 20 393 interspecies interaction between organisms integral to membrane|intracellular Rab GTPase activator activity p.W393L(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(17;0.228)|Breast(17;0.231) CAGCTGAAACTTAGGGGCCCATTCCAGGGCA 0.536 15 119 --- --- --- --- LINC00162 378825 broad.mit.edu 37 21 46421847 46421852 + RNA DEL CAGCCC CAGCCC - rs881968 by1000genomes TCGA-FD-A5BR-01A-11D-A26M-08 TCGA-FD-A5BR-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx afafc062-4c58-491a-8c4b-e714591ac2c2 2c6c386c-6fe4-4b77-ab2b-893aca19a3c6 g.chr21:46421847_46421852delCAGCCC ENST00000422199.1 - 0 284 NR_024089.1 ACGACTGTGTCAgcccctgcccctgc 0.665 3 3 --- --- --- ---