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 BLID 414899 broad.mit.edu 37 11 121986579 121986579 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:121986579G>T ENST00000560104.1 - 1 344 c.52C>A c.(52-54)Cta>Ata p.L18I NM_001001786.2 NP_001001786.2 Q8IZY5 BLID_HUMAN BH3-like motif containing, cell death inducer 18 apoptosis mitochondrion NS(1)|large_intestine(4)|lung(6)|pancreas(1) 12 Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101) TCAGATTCTAGGATCTCAAAG 0.448000 OREG0021435 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 18 3.38236e-24 5.73844e-24 1 1 0 CSMD1 64478 broad.mit.edu 37 8 2910079 2910079 + Missense_Mutation SNP T T A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr8:2910079T>A ENST00000520002.1 - 51 8123 c.7568A>T c.(7567-7569)cAt>cTt p.H2523L CSMD1_ENST00000542608.1_Missense_Mutation_p.H2522L|CSMD1_ENST00000537824.1_Missense_Mutation_p.H2522L|CSMD1_ENST00000602723.1_Missense_Mutation_p.H2523L|CSMD1_ENST00000400186.3_Missense_Mutation_p.H2523L|CSMD1_ENST00000602557.1_Missense_Mutation_p.H2523L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2523 Sushi 15. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GAAGCCCTCATGACATTCATA 0.498000 3 10 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158507936 158507936 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr6:158507936G>T ENST00000355585.4 + 23 3333 c.3258G>T c.(3256-3258)gaG>gaT p.E1086D SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367112.1_Missense_Mutation_p.E171D|SYNJ2_ENST00000367121.3_Missense_Mutation_p.E1086D NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1086 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CCGTCGGGGAGTTCCGCCACC 0.647000 19 33 6.49762e-13 9.17991e-13 1 1 0 CES3 23491 broad.mit.edu 37 16 66998614 66998614 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr16:66998614C>T ENST00000303334.4 + 6 874 c.803C>T c.(802-804)cCt>cTt p.P268L CES3_ENST00000394037.1_Missense_Mutation_p.P268L NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 268 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) GACTCTCACCCTTGGCCCCTA 0.597000 43 75 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122418716 122418716 + Missense_Mutation SNP T T G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr3:122418716T>G ENST00000474629.2 + 6 1581 c.1315T>G c.(1315-1317)Tca>Gca p.S439A NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 439 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) AGCAGGGAAATCAGAGGATGT 0.363000 22 40 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61985470 61985470 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr13:61985470C>A ENST00000409186.1 - 5 4867 c.2762G>T c.(2761-2763)aGg>aTg p.R921M PCDH20_ENST00000409204.4_Missense_Mutation_p.R921M Q8N6Y1 PCD20_HUMAN protocadherin 20 894 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) TTCATCTTCCCTGGGATGCTT 0.403000 12 25 0.000151284 0.000165911 1 1 0 C8A 731 broad.mit.edu 37 1 57347210 57347210 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:57347210G>T ENST00000361249.3 + 5 653 c.557G>T c.(556-558)aGg>aTg p.R186M NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 186 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 GGGGAATGGAGGGAGCTTCGA 0.458000 20 74 3.62473e-10 4.70268e-10 1 1 0 ZNF711 7552 broad.mit.edu 37 X 84520160 84520160 + Missense_Mutation SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:84520160G>A ENST00000360700.4 + 6 1701 c.815G>A c.(814-816)aGt>aAt p.S272N ZNF711_ENST00000373165.3_Missense_Mutation_p.S272N|ZNF711_ENST00000542798.1_Missense_Mutation_p.S68N|ZNF711_ENST00000276123.3_Missense_Mutation_p.S272N|ZNF711_ENST00000395402.1_Missense_Mutation_p.S250N Q9Y462 ZN711_HUMAN zinc finger protein 711 272 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 GAGTACACCAGTGGACATTCA 0.388000 51 75 0 0 1 0 0 IFT74 80173 broad.mit.edu 37 9 26978150 26978150 + Missense_Mutation SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr9:26978150G>A ENST00000443698.1 + 3 316 c.145G>A c.(145-147)Ggt>Agt p.G49S IFT74_ENST00000380062.5_Missense_Mutation_p.G49S|IFT74_ENST00000433700.1_Missense_Mutation_p.G49S|IFT74_ENST00000429045.2_Missense_Mutation_p.G49S NM_001099222.1 NP_001092692.1 Q96LB3 IFT74_HUMAN intraflagellar transport 74 homolog (Chlamydomonas) 49 cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 6 all_neural(11;2.36e-10) Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114) AGCAAGACCAGGTTCTCGTGG 0.408000 9 25 0 0 1 0 0 IGHV1-24 28467 broad.mit.edu 37 14 106733189 106733189 + RNA SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr14:106733189C>A ENST00000390610.2 - 0 365 TCAGGCTGCTCAGCTCCATGT 0.512000 52 215 1.64573e-32 2.8656e-32 1 1 0 PRDX4 10549 broad.mit.edu 37 X 23685897 23685897 + Silent SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:23685897C>A ENST00000379341.4 + 1 335 c.210C>A c.(208-210)gcC>gcA p.A70A PRDX4_ENST00000495599.1_3'UTR|PRDX4_ENST00000379331.3_Silent_p.A70A NM_006406.1 NP_006397.1 Q13162 PRDX4_HUMAN peroxiredoxin 4 70 cell redox homeostasis|I-kappaB phosphorylation thioredoxin peroxidase activity lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 9 TATCGGTCGCCGACCACTCCC 0.642000 39 23 7.66079e-34 1.3517e-33 1 1 0 SLC38A8 146167 broad.mit.edu 37 16 84070480 84070480 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr16:84070480C>T ENST00000299709.3 - 2 214 c.215G>A c.(214-216)gGg>gAg p.G72E NM_001080442.1 NP_001073911.1 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 72 amino acid transport|sodium ion transport integral to membrane p.G72V(1) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 GATGACCAGCCCGCTGATCAG 0.662000 9 8 0 0 1 0 0 SNRK 54861 broad.mit.edu 37 3 43389307 43389307 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr3:43389307C>T ENST00000296088.7 + 7 1860 c.1556C>T c.(1555-1557)cCa>cTa p.P519L SNRK_ENST00000429705.2_Missense_Mutation_p.P519L|SNRK_ENST00000437827.1_Missense_Mutation_p.P313L|SNRK_ENST00000454177.1_Missense_Mutation_p.P519L NM_017719.4 NP_060189.3 Q9NRH2 SNRK_HUMAN SNF related kinase 519 myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) ATAGCTTCTCCAGGTACAGTT 0.507000 13 24 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79319005 79319005 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr9:79319005C>A ENST00000428286.1 - 9 7647 c.6447G>T c.(6445-6447)aaG>aaT p.K2149N PRUNE2_ENST00000376718.3_Missense_Mutation_p.K2508N Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2508 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CTGATATTTCCTTGCTGGCAC 0.353000 8 33 0.000978159 0.00104671 1 1 0 HPSE2 60495 broad.mit.edu 37 10 100995547 100995547 + Missense_Mutation SNP A A T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr10:100995547A>T ENST00000370552.3 - 1 72 c.13T>A c.(13-15)Tgt>Agt p.C5S HPSE2_ENST00000370546.1_Missense_Mutation_p.C5S|HPSE2_ENST00000370549.1_Missense_Mutation_p.C5S|HPSE2_ENST00000404542.1_Missense_Mutation_p.C5S NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 5 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) GGGAAGGCACAAAGCACCCTC 0.547000 21 40 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50765651 50765651 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:50765651G>T ENST00000404971.1 - 11 3342 c.2003C>A c.(2002-2004)cCc>cAc p.P668H NRXN1_ENST00000406859.3_Missense_Mutation_p.P628H|NRXN1_ENST00000402717.3_Missense_Mutation_p.P620H|NRXN1_ENST00000401669.2_Missense_Mutation_p.P628H|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Missense_Mutation_p.P628H|NRXN1_ENST00000405472.3_Missense_Mutation_p.P620H NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 628 Laminin G-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity p.P668H(1)|p.P628H(1)|p.P669H(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CACCTCGGTGGGGAAGACAAG 0.532000 20 125 3.62473e-10 4.70268e-10 1 1 0 IL9R 3581 broad.mit.edu 37 X 155233195 155233195 + Missense_Mutation SNP A A T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:155233195A>T ENST00000424344.3 + 4 528 c.161A>T c.(160-162)cAg>cTg p.Q54L IL9R_ENST00000540897.1_Missense_Mutation_p.Q112L|IL9R_ENST00000244174.5_Missense_Mutation_p.Q75L|IL9R_ENST00000369423.2_Missense_Mutation_p.Q122L Q01113 IL9R_HUMAN interleukin 9 receptor 75 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GAGCTGGGACAGGGCTCCAGC 0.592000 12 40 0 0 1 0 0 VGLL3 389136 broad.mit.edu 37 3 87027794 87027794 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr3:87027794C>A ENST00000398399.2 - 2 648 c.285G>T c.(283-285)caG>caT p.Q95H VGLL3_ENST00000383698.3_Missense_Mutation_p.Q95H NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) CAATGTCTCCCTGGAAATAAG 0.507000 14 17 7.93312e-07 9.37336e-07 1 1 0 BCOR 54880 broad.mit.edu 37 X 39930369 39930369 + Missense_Mutation SNP T T A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:39930369T>A ENST00000342274.4 - 6 3457 c.3095A>T c.(3094-3096)gAa>gTa p.E1032V BCOR_ENST00000397354.3_Missense_Mutation_p.E1032V|BCOR_ENST00000378455.4_Missense_Mutation_p.E1014V|BCOR_ENST00000378444.4_Missense_Mutation_p.E1032V NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 1032 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 GTGGCCACCTTCTCTTTCTTT 0.448000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 14 16 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17202591 17202591 + Silent SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr16:17202591C>T ENST00000261381.6 - 12 2925 c.2841G>A c.(2839-2841)tcG>tcA p.S947S NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 947 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CCCCCAGCTCCGACTTGGGGT 0.652000 6 29 0 0 1 0 0 TBX22 50945 broad.mit.edu 37 X 79282217 79282217 + Silent SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:79282217C>A ENST00000442340.1 + 6 778 c.288C>A c.(286-288)tcC>tcA p.S96S TBX22_ENST00000373291.1_Silent_p.S96S|TBX22_ENST00000373294.5_Silent_p.S216S|TBX22_ENST00000373296.3_Silent_p.S216S NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 216 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TTCTGCAATCCATGCATAAGT 0.483000 75 75 1.16668e-32 2.0404e-32 1 1 0 IGFALS 3483 broad.mit.edu 37 16 1841461 1841461 + Nonsense_Mutation SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr16:1841461G>A ENST00000415638.3 - 2 1151 c.1072C>T c.(1072-1074)Cag>Tag p.Q358* IGFALS_ENST00000215539.3_Nonsense_Mutation_p.Q320* NM_001146006.1|NM_004970.2 NP_001139478.1|NP_004961.1 P35858 ALS_HUMAN insulin-like growth factor binding protein, acid labile subunit 320 cell adhesion|signal transduction soluble fraction insulin-like growth factor binding endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 8 TGGCCCAGCTGCAGCTCCTCC 0.677000 11 13 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105906085 105906085 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr10:105906085C>T ENST00000357060.3 - 30 3906 c.3791G>A c.(3790-3792)cGg>cAg p.R1264Q WDR96_ENST00000428666.1_Intron NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 1264 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TCTAGATTTCCGAACAGCTTC 0.408000 17 40 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197062287 197062287 + Silent SNP T T A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:197062287T>A ENST00000367409.4 - 21 9445 c.9189A>T c.(9187-9189)atA>atT p.I3063I ASPM_ENST00000294732.7_Silent_p.I1478I|ASPM_ENST00000367408.1_Silent_p.I728I NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 3063 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CCCTGGCTCGTATATATTTTT 0.393000 22 55 0 0 1 0 0 HOMEZ 57594 broad.mit.edu 37 14 23745473 23745473 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr14:23745473C>A ENST00000357460.5 - 2 1128 c.964G>T c.(964-966)Gca>Tca p.A322S HOMEZ_ENST00000561013.1_Missense_Mutation_p.A324S|HOMEZ_ENST00000431326.2_Missense_Mutation_p.A324S NM_020834.2 NP_065885.2 Q8IX15 HOMEZ_HUMAN homeobox and leucine zipper encoding 322 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|lung(7) 12 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) GGGGGTAATGCCTGTTCACTG 0.557000 40 28 9.62906e-15 1.45351e-14 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113988224 113988224 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr8:113988224C>A ENST00000297405.5 - 7 1428 c.1184G>T c.(1183-1185)cGa>cTa p.R395L CSMD3_ENST00000343508.3_Missense_Mutation_p.R355L|CSMD3_ENST00000352409.3_Missense_Mutation_p.R395L|CSMD3_ENST00000455883.2_Intron NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 395 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AACTTGCACTCGCTGTTCCTC 0.502000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 18 66 4.63292e-17 7.18465e-17 1 1 0 ZCCHC14 23174 broad.mit.edu 37 16 87493625 87493625 + Missense_Mutation SNP T T A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr16:87493625T>A ENST00000268616.4 - 2 489 c.272A>T c.(271-273)aAa>aTa p.K91I NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 91 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) TTTGCTGTGTTTTCCTAAGGG 0.557000 49 234 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94655614 94655614 + Missense_Mutation SNP T T C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:94655614T>C ENST00000260526.6 - 13 1489 c.1307A>G c.(1306-1308)cAg>cGg p.Q436R ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 436 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) CTGCAGATGCTGCATGTGGAA 0.428000 9 18 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117299113 117299113 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:117299113G>T ENST00000321322.6 - 33 6274 c.6273C>A c.(6271-6273)agC>agA p.S2091R DSCAML1_ENST00000527706.1_Missense_Mutation_p.S1821R NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 2031 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CCCCCGATGTGCTCATCTCGA 0.692000 51 31 7.34454e-26 1.2568e-25 1 1 0 GRIN1 2902 broad.mit.edu 37 9 140056880 140056880 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr9:140056880C>A ENST00000371561.3 + 13 2873 c.1776C>A c.(1774-1776)aaC>aaA p.N592K GRIN1_ENST00000371559.4_Missense_Mutation_p.N592K|GRIN1_ENST00000371550.4_Missense_Mutation_p.N592K|GRIN1_ENST00000371560.3_Missense_Mutation_p.N613K|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Missense_Mutation_p.N613K|GRIN1_ENST00000371553.3_Missense_Mutation_p.N613K|GRIN1_ENST00000371555.4_Missense_Mutation_p.N613K|GRIN1_ENST00000315048.3_Missense_Mutation_p.N592K|GRIN1_ENST00000350902.5_Missense_Mutation_p.N592K NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 592 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) TCAAGGTGAACAGCGAGGAGG 0.736000 9 18 3.07112e-06 3.54428e-06 1 1 0 CLLU1OS 574016 broad.mit.edu 37 12 92816356 92816356 + Missense_Mutation SNP C C G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr12:92816356C>G ENST00000378487.2 - 2 110 c.109G>C c.(109-111)Gca>Cca p.A37P CLLU1OS_ENST00000538965.1_Missense_Mutation_p.A37P|CLLU1_ENST00000472839.2_Intron|RP11-693J15.4_ENST00000508671.1_RNA NM_001025232.1 NP_001020403.1 Q5K130 CLU1O_HUMAN chronic lymphocytic leukemia up-regulated 1 opposite strand 37 large_intestine(1)|lung(7) 8 gccccaagtgcagggccatag 0.398000 6 9 0 0 1 0 0 KIF7 374654 broad.mit.edu 37 15 90172673 90172673 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr15:90172673G>T ENST00000394412.3 - 17 3526 c.3450C>A c.(3448-3450)gaC>gaA p.D1150E NM_198525.2 NP_940927.2 Q2M1P5 KIF7_HUMAN kinesin family member 7 1150 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) TCAGCTGGCGGTCCATCTCCA 0.647000 37 82 3.76114e-14 5.61342e-14 1 1 0 REM1 28954 broad.mit.edu 37 20 30070126 30070126 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr20:30070126G>T ENST00000201979.2 + 4 753 c.460G>T c.(460-462)Ggc>Tgc p.G154C NM_014012.4 NP_054731.2 O75628 REM1_HUMAN RAS (RAD and GEM)-like GTP-binding 1 154 small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1) 23 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CCTGCAGGGGGGCAGTGCCTA 0.597000 21 26 3.51602e-12 4.89775e-12 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113516136 113516136 + Nonsense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr8:113516136C>A ENST00000297405.5 - 30 5210 c.4966G>T c.(4966-4968)Gga>Tga p.G1656* CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G1616*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G1656*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G1552* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1656 CUB 9. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGAAAACTTCCAATCAGTGGG 0.363000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 7 35 0.27861 0.279314 1 1 0 PTHLH 5744 broad.mit.edu 37 12 28116374 28116374 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr12:28116374C>A ENST00000535992.1 - 3 777 c.431G>T c.(430-432)cGc>cTc p.R144L PTHLH_ENST00000538310.1_Missense_Mutation_p.R144L|PTHLH_ENST00000395872.1_Missense_Mutation_p.R144L|PTHLH_ENST00000201015.4_Missense_Mutation_p.R144L|PTHLH_ENST00000539239.1_Missense_Mutation_p.R144L|PTHLH_ENST00000354417.3_Missense_Mutation_p.R144L|PTHLH_ENST00000545234.1_Missense_Mutation_p.R144L|PTHLH_ENST00000395868.3_Missense_Mutation_p.R144L|RP11-993B23.3_ENST00000538113.1_RNA P12272 PTHR_HUMAN parathyroid hormone-like hormone 144 activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation cytoplasm|extracellular space|nucleus hormone activity|peptide hormone receptor binding breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1) 10 Lung SC(9;0.184) CCAGGCAGAGCGAGTTCGCCG 0.552000 33 22 3.62531e-18 5.78011e-18 1 1 0 GLRA4 441509 broad.mit.edu 37 X 102979908 102979908 + Silent SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:102979908C>T ENST00000372617.4 - 2 540 c.120G>A c.(118-120)caG>caA p.Q40Q NM_001024452.2 NP_001019623.2 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 40 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 GGGACATGGGCTGGGACCCCT 0.478000 4 17 0 0 1 0 0 TRIM8 81603 broad.mit.edu 37 10 104404540 104404540 + Missense_Mutation SNP A A T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr10:104404540A>T ENST00000302424.6 + 1 288 c.166A>T c.(166-168)Aac>Tac p.N56Y NM_030912.2 NP_112174.2 Q9BZR9 TRIM8_HUMAN tripartite motif containing 8 56 cytoplasm|PML body ligase activity|protein homodimerization activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CCCAGAGTGCAACCAGGCCTA 0.642000 6 6 0 0 1 0 0 BRSK1 84446 broad.mit.edu 37 19 55800959 55800959 + Silent SNP G G C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr19:55800959G>C ENST00000309383.1 + 4 706 c.429G>C c.(427-429)gcG>gcC p.A143A BRSK1_ENST00000585418.1_Silent_p.A143A|BRSK1_ENST00000590333.1_Silent_p.A159A NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 143 Protein kinase. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) TTGTGTCTGCGCTGGACTTCT 0.617000 7 37 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33565445 33565445 + Missense_Mutation SNP T T A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:33565445T>A ENST00000321505.4 + 1 1625 c.1445T>A c.(1444-1446)cTc>cAc p.L482H KIAA1549L_ENST00000265654.5_Missense_Mutation_p.L482H|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.L482H KIAA1549-like GATCTAGTCCTCGGTACAAGC 0.468000 OREG0020868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 45 0 0 1 0 0 MOSPD2 158747 broad.mit.edu 37 X 14915340 14915340 + Nonsense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:14915340G>T ENST00000380492.3 + 5 545 c.457G>T c.(457-459)Gaa>Taa p.E153* MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Nonsense_Mutation_p.E153* NM_001177475.1|NM_152581.3 NP_001170946.1|NP_689794.1 Q8NHP6 MSPD2_HUMAN motile sperm domain containing 2 153 CRAL-TRIO. integral to membrane structural molecule activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(33;0.183) TGACCTGTCAGAAACTGGAAT 0.393000 18 91 2.98393e-07 3.56814e-07 1 1 0 DEF6 50619 broad.mit.edu 37 6 35280250 35280250 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr6:35280250C>T ENST00000316637.5 + 4 600 c.595C>T c.(595-597)Cgg>Tgg p.R199W DEF6_ENST00000542066.1_Intron NM_022047.3 NP_071330.3 Q9H4E7 DEFI6_HUMAN differentially expressed in FDCP 6 homolog (mouse) 199 cytoplasm|nucleus|plasma membrane cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 15 GGGCGTGGGCCGGGACACCCT 0.652000 16 24 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34962304 34962304 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:34962304C>A ENST00000329357.5 + 1 1392 c.1356C>A c.(1354-1356)gaC>gaA p.D452E NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 452 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 GTGTTTCTGACTCTCTTCAAC 0.483000 27 136 1.06647e-15 1.62218e-15 1 1 0 XPNPEP2 7512 broad.mit.edu 37 X 128880265 128880265 + Missense_Mutation SNP T T A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:128880265T>A ENST00000371106.3 + 5 544 c.352T>A c.(352-354)Tgg>Agg p.W118R XPNPEP2_ENST00000371105.3_Missense_Mutation_p.W118R NM_003399.5 NP_003390.4 O43895 XPP2_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound 118 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 CAGTCGCTACTGGACTCAGGC 0.557000 7 30 0 0 1 0 0 IGHV1-58 28464 broad.mit.edu 37 14 107078418 107078418 + RNA SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr14:107078418C>A ENST00000390628.2 - 0 366 TCAGGCTGCTCAGCTCCATGT 0.537000 30 128 9.65021e-13 1.35856e-12 1 1 0 STK11IP 114790 broad.mit.edu 37 2 220473022 220473022 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:220473022G>T ENST00000456909.1 + 14 1563 c.1473G>T c.(1471-1473)agG>agT p.R491S STK11IP_ENST00000295641.10_Missense_Mutation_p.R502S Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 502 Glu-rich. protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGGAGGTCAGGGCGGAGCCAC 0.637000 7 8 2.0095e-06 2.34638e-06 1 1 0 FN3KRP 79672 broad.mit.edu 37 17 80684407 80684407 + Missense_Mutation SNP C C G rs148824851 TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr17:80684407C>G ENST00000269373.6 + 5 593 c.520C>G c.(520-522)Cag>Gag p.Q174E FN3KRP_ENST00000535965.1_Missense_Mutation_p.Q124E NM_024619.3 NP_078895.2 Q9HA64 KT3K_HUMAN fructosamine 3 kinase related protein 174 kinase activity breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 7 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) GCAGCGCATTCAGCCCCAGAT 0.582000 37 153 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175046861 175046861 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:175046861G>T ENST00000239462.4 + 2 420 c.307G>T c.(307-309)Ggc>Tgc p.G103C NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 103 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CGAGTTGGCAGGCAGTGTCCA 0.607000 14 45 2.23348e-06 2.60027e-06 1 1 0 ADAMTS16 170690 broad.mit.edu 37 5 5303568 5303568 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr5:5303568G>T ENST00000274181.7 + 19 3115 c.2977G>T c.(2977-2979)Ggg>Tgg p.G993W NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 993 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 ATGGAGCGCCGGGCCCTGGGC 0.662000 6 20 2.7689e-08 3.43516e-08 1 1 0 VCAN 1462 broad.mit.edu 37 5 82789654 82789654 + Missense_Mutation SNP T T A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr5:82789654T>A ENST00000265077.3 + 5 1217 c.652T>A c.(652-654)Tat>Aat p.Y218N VCAN_ENST00000343200.5_Missense_Mutation_p.Y218N|VCAN_ENST00000512590.2_Missense_Mutation_p.Y170N|VCAN_ENST00000513984.1_Missense_Mutation_p.Y218N|VCAN_ENST00000342785.4_Missense_Mutation_p.Y218N|VCAN_ENST00000502527.2_Missense_Mutation_p.Y218N NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 218 Link 1. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AGTAGGCTGTTATGGAGATAA 0.458000 26 22 0 0 1 0 0 OR51F2 119694 broad.mit.edu 37 11 4843362 4843362 + Silent SNP G G C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:4843362G>C ENST00000322110.5 + 1 812 c.747G>C c.(745-747)cgG>cgC p.R249R MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AAGAGAGGCGGAAAGCCTTCA 0.502000 9 40 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141092028 141092028 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:141092028G>T ENST00000389484.3 - 79 13188 c.12217C>A c.(12217-12219)Ccc>Acc p.P4073T NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4073 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATACCTGTGGGTCTCTGTAAG 0.368000 TSP Lung(27;0.18) 9 36 1.58986e-06 1.86188e-06 1 1 0 MYT1L 23040 broad.mit.edu 37 2 1893073 1893073 + Silent SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:1893073G>T ENST00000399161.2 - 16 3207 c.2460C>A c.(2458-2460)ccC>ccA p.P820P MYT1L_ENST00000428368.2_Silent_p.P818P NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 820 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TGTAGTCTACGGGCAAGTCCC 0.562000 30 54 1.04352e-10 1.39019e-10 1 1 0 KRT16 3868 broad.mit.edu 37 17 39767599 39767599 + Nonsense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr17:39767599C>A ENST00000301653.4 - 3 833 c.769G>T c.(769-771)Gag>Tag p.E257* NM_005557.3 NP_005548.2 P08779 K1C16_HUMAN keratin 16 257 Coil 1B.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) GACCGTACCTCCTCGTGGTTC 0.637000 39 28 5.78141e-17 8.93082e-17 1 1 0 ZNF195 7748 broad.mit.edu 37 11 3381717 3381717 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:3381717C>A ENST00000354599.6 - 4 409 c.305G>T c.(304-306)gGa>gTa p.G102V ZNF195_ENST00000005082.9_Missense_Mutation_p.G151V|ZNF195_ENST00000429541.2_Missense_Mutation_p.G106V|ZNF195_ENST00000399602.4_Missense_Mutation_p.G174V|ZNF195_ENST00000343338.7_Missense_Mutation_p.G106V|ZNF195_ENST00000526601.1_Missense_Mutation_p.G155V|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000438262.2_3'UTR NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 174 Spacer. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) ATTTCCATATCCTCTCAGTAT 0.338000 10 36 2.74318e-10 3.61808e-10 1 1 0 HERC5 51191 broad.mit.edu 37 4 89408247 89408247 + Missense_Mutation SNP G G A rs148569726 TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr4:89408247G>A ENST00000264350.3 + 15 2032 c.1879G>A c.(1879-1881)Gtc>Atc p.V627I HERC5_ENST00000508159.1_Missense_Mutation_p.V265I NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 627 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity p.V627I(1) NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) ACAATGCTGCGTCATATTCAG 0.318000 10 13 0 0 1 0 0 CD177 57126 broad.mit.edu 37 19 43858093 43858093 + RNA SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr19:43858093C>A ENST00000378009.4 + 0 183 CD177_ENST00000378012.2_RNA|CD177_ENST00000607517.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) CTAAGAACACCAGCTGCGACA 0.632000 18 35 3.62473e-10 4.70268e-10 1 1 0 IMPDH1 3614 broad.mit.edu 37 7 128035227 128035227 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:128035227C>A ENST00000338791.6 - 13 1713 c.1363G>T c.(1363-1365)Gtg>Ttg p.V455L IMPDH1_ENST00000470772.1_Missense_Mutation_p.V369L|IMPDH1_ENST00000480861.1_Missense_Mutation_p.V365L|IMPDH1_ENST00000496200.1_Missense_Mutation_p.V345L|IMPDH1_ENST00000343214.4_Missense_Mutation_p.V345L|IMPDH1_ENST00000348127.6_Missense_Mutation_p.V419L|IMPDH1_ENST00000378717.4_Missense_Mutation_p.V386L|IMPDH1_ENST00000419067.2_Missense_Mutation_p.V422L|IMPDH1_ENST00000354269.5_Missense_Mutation_p.V445L NM_000883.3 NP_000874.2 P20839 IMDH1_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 1 370 GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3) 22 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) ACGTGTCCCACGGTCTGGATG 0.662000 27 30 3.73988e-18 5.91527e-18 1 1 0 OTUD6A 139562 broad.mit.edu 37 X 69283183 69283183 + Missense_Mutation SNP A A T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:69283183A>T ENST00000338352.2 + 1 843 c.809A>T c.(808-810)aAc>aTc p.N270I NM_207320.1 NP_997203.1 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 270 OTU. autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 GAGCACTACAACTCCGTGACA 0.677000 4 25 0 0 1 0 0 ACTL8 81569 broad.mit.edu 37 1 18152750 18152750 + Silent SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:18152750C>T ENST00000375406.1 + 3 1053 c.837C>T c.(835-837)tcC>tcT p.S279S NM_030812.2 NP_110439.2 Q9H568 ACTL8_HUMAN actin-like 8 279 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) TTGTGGAATCCGTGGAGTCCT 0.647000 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 37 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2910159 2910159 + Nonsense_Mutation SNP A A T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr8:2910159A>T ENST00000520002.1 - 51 8043 c.7488T>A c.(7486-7488)tgT>tgA p.C2496* CSMD1_ENST00000542608.1_Nonsense_Mutation_p.C2495*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.C2495*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.C2496*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.C2496*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.C2496* Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2496 Sushi 15. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTGGGATTCCACAGGACACAG 0.368000 7 6 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 30900224 30900224 + Silent SNP A A G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:30900224A>G ENST00000597505.1 - 36 5258 c.5259T>C c.(5257-5259)taT>taC p.Y1753Y P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) GGATTCTGGCATAATTTGCTC 0.398000 21 8 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39537692 39537692 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr8:39537692G>T ENST00000265707.5 + 16 1813 c.1768G>T c.(1768-1770)Gat>Tat p.D590Y ADAM18_ENST00000541111.1_Missense_Mutation_p.D4Y|ADAM18_ENST00000379866.1_Missense_Mutation_p.D566Y NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 590 Cys-rich. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CATGAGATCAGATGGAACAGA 0.358000 5 17 5.9392e-07 7.05947e-07 1 1 0 MCM7 4176 broad.mit.edu 37 7 99696770 99696770 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:99696770C>T ENST00000303887.5 - 5 1103 c.458G>A c.(457-459)cGg>cAg p.R153Q MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Missense_Mutation_p.R153Q NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 153 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) AGAGTCAGCCCGCACTTCCCG 0.512000 16 72 0 0 1 0 0 ACTBL2 345651 broad.mit.edu 37 5 56778406 56778406 + Silent SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr5:56778406G>A ENST00000423391.1 - 1 230 c.129C>T c.(127-129)ggC>ggT p.G43G CTD-2023N9.1_ENST00000506106.1_RNA NM_001017992.3 NP_001017992.1 Q562R1 ACTBL_HUMAN actin, beta-like 2 43 cytoplasm|cytoskeleton ATP binding breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2) 28 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) CTACCATAACGCCCTGGTGTC 0.587000 5 17 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2349403 2349403 + Splice_Site SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr16:2349403C>A ENST00000301732.5 - 14 2442 c.e14+1 ABCA3_ENST00000382381.3_Splice_Site NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CTGGCCCTCACCTGTGAGCAT 0.657000 33 34 1.74807e-11 2.37666e-11 1 1 0 MTA1 9112 broad.mit.edu 37 14 105931137 105931137 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr14:105931137C>T ENST00000331320.7 + 15 1685 c.1471C>T c.(1471-1473)Cgc>Tgc p.R491C MTA1_ENST00000406191.1_Missense_Mutation_p.R491C|MTA1_ENST00000435036.2_Missense_Mutation_p.R27C|MTA1_ENST00000405646.1_Missense_Mutation_p.R474C NM_001203258.1|NM_004689.3 NP_001190187.1|NP_004680.2 Q13330 MTA1_HUMAN metastasis associated 1 491 signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1) 14 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) TGAGATCCTGCGCCCGTGGCA 0.657000 9 20 0 0 1 0 0 DHX57 90957 broad.mit.edu 37 2 39088949 39088949 + Silent SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:39088949C>T ENST00000295373.6 - 5 729 c.603G>A c.(601-603)gcG>gcA p.A201A AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 201 UBA. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) TCCTCAGGACCGCTTGACAGC 0.423000 12 28 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69380961 69380961 + Missense_Mutation SNP G G C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr8:69380961G>C ENST00000337103.4 + 3 1901 c.309G>C c.(307-309)tgG>tgC p.W103C C8orf34_ENST00000348340.2_Missense_Mutation_p.W128C|C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000539993.1_Missense_Mutation_p.W128C|C8orf34_ENST00000518698.1_Missense_Mutation_p.W214C Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 128 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) AGTGGAACTGGAGGACTAAAC 0.398000 12 30 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190129925 190129925 + Missense_Mutation SNP G G C rs147790033 TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:190129925G>C ENST00000367462.3 - 7 1288 c.1057C>G c.(1057-1059)Cgc>Ggc p.R353G FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R251G NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 353 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TCATAACGGCGCTGAAAATTA 0.353000 32 66 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1616067 1616067 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr20:1616067G>T ENST00000381580.1 - 4 1007 c.828C>A c.(826-828)aaC>aaA p.N276K SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000303415.3_Missense_Mutation_p.N309K|SIRPG_ENST00000216927.4_Intron|SIRPG_ENST00000381583.2_Intron Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 309 Ig-like C1-type 2. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 AGCTTGTCCAGTTGTAGGTAC 0.547000 22 70 1.16021e-09 1.49546e-09 1 1 0 COL28A1 340267 broad.mit.edu 37 7 7415129 7415129 + Splice_Site SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:7415129C>A ENST00000399429.3 - 31 2463 c.e31-1 NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TTTCTTCTTTCTAGGGGATAA 0.313000 12 15 0.00136819 0.00144078 1 1 0 OR1C1 26188 broad.mit.edu 37 1 247921346 247921346 + Missense_Mutation SNP A A T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:247921346A>T ENST00000408896.2 - 1 636 c.363T>A c.(361-363)gaT>gaA p.D121E NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CCACATATCTATCATACGCCA 0.493000 13 55 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912559 77912559 + Missense_Mutation SNP A A T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:77912559A>T ENST00000321110.1 - 2 1654 c.1359T>A c.(1357-1359)caT>caA p.H453Q NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 453 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 CTCTGGCAAAATGACCAGGAT 0.547000 40 14 0 0 1 0 0 CCDC132 55610 broad.mit.edu 37 7 92953017 92953017 + Missense_Mutation SNP A A G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:92953017A>G ENST00000544910.1 + 22 2080 c.1860A>G c.(1858-1860)atA>atG p.I620M CCDC132_ENST00000541136.1_Missense_Mutation_p.I461M|CCDC132_ENST00000305866.5_Missense_Mutation_p.I650M|CCDC132_ENST00000535481.1_Missense_Mutation_p.I370M NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 650 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) TGTATGCAATATATACCTTTT 0.274000 7 30 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113933929 113933929 + Silent SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr8:113933929G>T ENST00000297405.5 - 10 1804 c.1560C>A c.(1558-1560)ggC>ggA p.G520G CSMD3_ENST00000343508.3_Silent_p.G480G|CSMD3_ENST00000352409.3_Silent_p.G520G|CSMD3_ENST00000455883.2_Silent_p.G416G NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 520 Sushi 2. integral to membrane|plasma membrane p.G520G(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGCTCTTTGCGCCCTGTAGGA 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 19 39 8.10497e-08 9.80998e-08 1 1 0 LOC146880 146880 broad.mit.edu 37 17 62748014 62748014 + RNA SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr17:62748014C>A ENST00000400873.3 - 0 2295 NR_026899.1 ATTTTGTCTACGCCTCCACAT 0.343000 3 47 0.115264 0.116734 1 1 0 MYOM2 9172 broad.mit.edu 37 8 2054110 2054110 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr8:2054110C>A ENST00000262113.4 + 22 2954 c.2813C>A c.(2812-2814)gCg>gAg p.A938E MYOM2_ENST00000523438.1_Missense_Mutation_p.A363E NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 938 Ig-like C2-type 3. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) ATGACAGACGCGTCTCAGTTC 0.483000 17 49 0.006122 0.00634579 1 1 0 FER1L5 90342 broad.mit.edu 37 2 97368737 97368737 + RNA SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:97368737C>T ENST00000457909.1 + 0 4923 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 AGCCTGGATGCCACGTCCATG 0.587000 3 23 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248112303 248112303 + Missense_Mutation SNP C C G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:248112303C>G ENST00000357191.3 + 1 144 c.144C>G c.(142-144)atC>atG p.I48M OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TTCTTCTCATCTTCTTGGACA 0.418000 8 376 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38797411 38797411 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr3:38797411G>T ENST00000449082.2 - 10 1328 c.1329C>A c.(1327-1329)caC>caA p.H443Q NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 443 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CATTGTGGGAGTGGAGAGAGG 0.468000 50 27 7.47603e-22 1.22644e-21 1 1 0 GUCY1A2 2977 broad.mit.edu 37 11 106579342 106579342 + Silent SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:106579342C>T ENST00000526355.1 - 7 2355 c.1887G>A c.(1885-1887)gtG>gtA p.V629V GUCY1A2_ENST00000282249.2_Silent_p.V660V|GUCY1A2_ENST00000347596.2_Silent_p.V650V NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 629 Guanylate cyclase. intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GTGGCATTCGCACCCCAACAA 0.463000 9 52 0 0 1 0 0 BTN1A1 696 broad.mit.edu 37 6 26509247 26509247 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr6:26509247G>T ENST00000244513.6 + 7 1492 c.1426G>T c.(1426-1428)Gct>Tct p.A476S NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 476 B30.2/SPRY. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 CTGCCCAATTGCTGATGGGCC 0.537000 33 16 1.06647e-15 1.62218e-15 1 1 0 KRTAP21-1 337977 broad.mit.edu 37 21 32127623 32127623 + Missense_Mutation SNP C C A rs147233060 byFrequency TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr21:32127623C>A ENST00000335093.3 - 1 123 c.74G>T c.(73-75)gGc>gTc p.G25V NM_181619.1 NP_853650.1 Q3LI58 KR211_HUMAN keratin associated protein 21-1 25 intermediate filament p.G25A(1) breast(1)|endometrium(1)|lung(4)|urinary_tract(1) 7 acagccacagccagagccaga 0.537000 26 75 4.7796e-09 6.06231e-09 1 1 0 ISL2 64843 broad.mit.edu 37 15 76632832 76632832 + Missense_Mutation SNP C C G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr15:76632832C>G ENST00000290759.4 + 4 887 c.727C>G c.(727-729)Cgc>Ggc p.R243G RP11-685G9.2_ENST00000559539.1_RNA NM_145805.1 NP_665804.1 Q96A47 ISL2_HUMAN ISL LIM homeobox 2 243 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 CCAGAACAAGCGCTGCAAGGA 0.637000 4 43 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579329 7579329 + Missense_Mutation SNP T T C rs121912658 TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr17:7579329T>C ENST00000420246.2 - 4 490 c.358A>G c.(358-360)Aag>Gag p.K120E TP53_ENST00000413465.2_Missense_Mutation_p.K120E|TP53_ENST00000269305.4_Missense_Mutation_p.K120E|TP53_ENST00000455263.2_Missense_Mutation_p.K120E|TP53_ENST00000445888.2_Missense_Mutation_p.K120E|TP53_ENST00000359597.4_Missense_Mutation_p.K120E NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 120 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Interaction with DNA. K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (in sporadic cancers; 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.0?(8)|p.K120E(3)|p.G59fs*23(3)|p.K120*(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.K120Q(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.K120fs*3(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) GTCACAGACTTGGCTGTCCCA 0.562000 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) 25 18 0 0 1 0 0 RTCB 51493 broad.mit.edu 37 22 32789884 32789884 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr22:32789884C>T ENST00000216038.5 - 10 1383 c.1285G>A c.(1285-1287)Gga>Aga p.G429R RTCB_ENST00000451746.2_Intron NM_014306.4 NP_055121.1 RNA 2',3'-cyclic phosphate and 5'-OH ligase CTTACCGCTCCATGACAGGTT 0.438000 11 33 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225717692 225717692 + Missense_Mutation SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:225717692G>A ENST00000409592.3 - 17 2131 c.2018C>T c.(2017-2019)cCc>cTc p.P673L DOCK10_ENST00000258390.7_Missense_Mutation_p.P679L Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 679 DHR-1. GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) GAGGTGTTTGGGGTAAATATA 0.348000 20 26 0 0 1 0 0 PPP2R2B 5521 broad.mit.edu 37 5 146017924 146017924 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr5:146017924G>T ENST00000394413.3 - 6 1250 c.680C>A c.(679-681)gCa>gAa p.A227E PPP2R2B_ENST00000394414.1_Missense_Mutation_p.A293E|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.A227E|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.A216E|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.A227E|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.A227E|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.A285E|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.A233E|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.A230E|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.A216E Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 227 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAACTCGGCTGCTGTGATCAC 0.557000 13 14 6.31663e-08 7.69233e-08 1 1 0 ARPP21 10777 broad.mit.edu 37 3 35763238 35763238 + Silent SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr3:35763238C>T ENST00000187397.4 + 14 1593 c.1137C>T c.(1135-1137)acC>acT p.T379T ARPP21_ENST00000337271.5_Silent_p.T325T|ARPP21_ENST00000417925.1_Silent_p.T345T|ARPP21_ENST00000458225.1_Silent_p.T345T|ARPP21_ENST00000444190.1_Silent_p.T325T NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 379 Ser-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 CCGCCATGACCAAGACGGCGA 0.547000 6 13 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178416315 178416315 + Missense_Mutation SNP T T G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr5:178416315T>G ENST00000231188.5 - 5 1282 c.1104A>C c.(1102-1104)aaA>aaC p.K368N RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.K368N NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 368 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) AGCTGGTCAGTTTGCAGTTAA 0.552000 40 47 0 0 1 0 0 REG3G 130120 broad.mit.edu 37 2 79253889 79253889 + Missense_Mutation SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:79253889G>A ENST00000272324.5 + 3 311 c.127G>A c.(127-129)Ggc>Agc p.G43S REG3G_ENST00000393897.2_Missense_Mutation_p.G43S|REG3G_ENST00000409471.1_Missense_Mutation_p.G43S NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 43 acute-phase response extracellular region sugar binding p.G43S(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CTGTCCCAAAGGCTCCAAGGC 0.522000 23 27 0 0 1 0 0 BTG4 54766 broad.mit.edu 37 11 111365888 111365888 + Splice_Site SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:111365888C>A ENST00000356018.2 - 5 861 c.662_splice c.e5+1 p.R221_splice NM_017589.3 NP_060059.1 Q9NY30 BTG4_HUMAN B-cell translocation gene 4 221 cell cycle arrest|negative regulation of cell proliferation|neuron differentiation large_intestine(2)|upper_aerodigestive_tract(1) 3 all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509) CCAGTGGTACCTGTCCAGCCG 0.527000 36 30 1.57945e-13 2.30531e-13 1 1 0 TRHR 7201 broad.mit.edu 37 8 110131524 110131524 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr8:110131524C>A ENST00000518632.1 + 3 1388 c.1037C>A c.(1036-1038)gCt>gAt p.A346D TRHR_ENST00000311762.2_Missense_Mutation_p.A346D P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 346 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) GAGAAACCTGCTAACTACAGT 0.478000 12 43 0.00136819 0.00144078 1 1 0 ZNF767 79970 broad.mit.edu 37 7 149318144 149318144 + RNA SNP G G C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:149318144G>C ENST00000463567.1 - 0 486 NR_027788.1 zinc finger family member 767 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1) 5 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00434) TACCCAAAGAGACCAGCATCT 0.498000 5 89 0 0 1 0 0 ABCB11 8647 broad.mit.edu 37 2 169836414 169836414 + Missense_Mutation SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:169836414G>A ENST00000263817.6 - 11 1283 c.1159C>T c.(1159-1161)Cgt>Tgt p.R387C NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 387 bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) GCTGCTGCACGTCCAGTTGCA 0.453000 8 22 0 0 1 0 0 PARP12 64761 broad.mit.edu 37 7 139726083 139726083 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:139726083C>A ENST00000263549.3 - 11 2567 c.1694G>T c.(1693-1695)gGc>gTc p.G565V NM_022750.2 NP_073587.1 Q9H0J9 PAR12_HUMAN poly (ADP-ribose) polymerase family, member 12 565 PARP catalytic. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) GGCGCTGGTGCCGTGGAACAG 0.567000 41 95 5.85753e-14 8.64476e-14 1 1 0 ANK2 287 broad.mit.edu 37 4 114274486 114274486 + Missense_Mutation SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr4:114274486G>A ENST00000357077.4 + 38 4765 c.4712G>A c.(4711-4713)tGc>tAc p.C1571Y ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.C1538Y|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1538 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGTGGAACCTGCACAAGAGAT 0.453000 8 20 0 0 1 0 0 HOXA1 3198 broad.mit.edu 37 7 27134105 27134105 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:27134105G>T ENST00000343060.4 - 2 1023 c.962C>A c.(961-963)cCt>cAt p.P321H HOXA1_ENST00000355633.5_3'UTR NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 321 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CCCCGGGGAAGGAACGCAGGG 0.617000 15 31 8.00594e-06 9.15953e-06 1 1 0 ANKRD44 91526 broad.mit.edu 37 2 197870518 197870518 + Silent SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:197870518G>A ENST00000328737.2 - 21 2248 c.2172C>T c.(2170-2172)gcC>gcT p.A724A ANKRD44_ENST00000282272.8_Silent_p.A741A|ANKRD44_ENST00000450567.1_Silent_p.A724A|ANKRD44_ENST00000337207.5_Silent_p.A724A Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 749 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) TCAGCCACGTGGCGTGGCCAC 0.522000 56 125 0 0 1 0 0 CRIM1 51232 broad.mit.edu 37 2 36775745 36775745 + Silent SNP A A G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:36775745A>G ENST00000280527.2 + 17 3379 c.3012A>G c.(3010-3012)agA>agG p.R1004R AC007401.2_ENST00000406220.1_Intron NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 1004 nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) GTTCCCAGAGAATGCTAAGAA 0.418000 3 55 0 0 1 0 0 NT5C1B 93034 broad.mit.edu 37 2 18757471 18757471 + Nonsense_Mutation SNP A A T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:18757471A>T ENST00000304081.4 - 8 1408 c.1308T>A c.(1306-1308)tgT>tgA p.C436* NT5C1B_ENST00000600945.1_Nonsense_Mutation_p.C496*|NT5C1B-RDH14_ENST00000532967.1_Nonsense_Mutation_p.C496*|NT5C1B_ENST00000359846.2_Nonsense_Mutation_p.C496* NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) GCTTACTTTCACATAATGTAT 0.358000 14 19 0 0 1 0 0 UBALD1 124402 broad.mit.edu 37 16 4664794 4664794 + Missense_Mutation SNP G G C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr16:4664794G>C ENST00000590965.1 - 1 81 c.5C>G c.(4-6)tCc>tGc p.S2C UBALD1_ENST00000587649.1_Missense_Mutation_p.S2C|UBALD1_ENST00000283474.7_Missense_Mutation_p.S2C|UBALD1_ENST00000587615.1_Missense_Mutation_p.S2C|UBALD1_ENST00000591897.1_Intron|UBALD1_ENST00000591401.1_Missense_Mutation_p.S2C UBA-like domain containing 1 CATGTTCACGGACATGGCGCC 0.682000 4 29 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73787156 73787156 + Missense_Mutation SNP T T G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr6:73787156T>G ENST00000342056.2 + 4 1126 c.728T>G c.(727-729)gTg>gGg p.V243G KCNQ5_ENST00000370398.1_Missense_Mutation_p.V243G|KCNQ5_ENST00000355635.3_Missense_Mutation_p.V243G|KCNQ5_ENST00000355194.4_Missense_Mutation_p.V243G|KCNQ5_ENST00000414165.2_Missense_Mutation_p.V243G|KCNQ5_ENST00000403813.2_Missense_Mutation_p.V243G|KCNQ5_ENST00000402622.2_Missense_Mutation_p.V243G|KCNQ5_ENST00000370392.1_Missense_Mutation_p.V243G NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 243 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) CTCCGCATGGTGCGCATGGAC 0.438000 18 25 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7750744 7750744 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr17:7750744C>T ENST00000254846.5 + 10 1620 c.1231C>T c.(1231-1233)Cgg>Tgg p.R411W KDM6B_ENST00000448097.2_Missense_Mutation_p.R411W NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 411 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 caCTGGTCTCCGGGGCGTGGA 0.662000 23 14 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65346837 65346837 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr3:65346837C>A ENST00000483466.1 - 23 3999 c.3758G>T c.(3757-3759)gGc>gTc p.G1253V MAGI1_ENST00000330909.8_Intron|MAGI1_ENST00000497477.2_Missense_Mutation_p.G1157V|MAGI1_ENST00000402939.2_Intron NM_004742.2 NP_004733.2 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 0 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TGGAGTCATGCCAGGGAAGGA 0.478000 18 18 7.41877e-09 9.32042e-09 1 1 0 CCDC108 255101 broad.mit.edu 37 2 219903188 219903188 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:219903188C>A ENST00000341552.5 - 4 349 c.266G>T c.(265-267)gGt>gTt p.G89V CCDC108_ENST00000324264.6_Missense_Mutation_p.G24V|CCDC108_ENST00000409865.3_Missense_Mutation_p.G78V|CCDC108_ENST00000410037.1_Missense_Mutation_p.G24V|CCDC108_ENST00000441968.1_Missense_Mutation_p.G89V|CCDC108_ENST00000453220.1_Missense_Mutation_p.G89V|CCDC108_ENST00000295729.2_Missense_Mutation_p.G24V NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 89 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCAGGATCCACCAGAGTTCAC 0.592000 15 48 1.52009e-12 2.13242e-12 1 1 0 GPR83 10888 broad.mit.edu 37 11 94113869 94113869 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:94113869C>A ENST00000243673.2 - 4 889 c.718G>T c.(718-720)Gac>Tac p.D240Y GPR83_ENST00000539203.2_Missense_Mutation_p.D198Y NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 240 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GTGGCCAAGTCCAGGTACTTC 0.577000 29 31 5.90632e-09 7.44384e-09 1 1 0 EIF4G3 8672 broad.mit.edu 37 1 21177969 21177969 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:21177969C>T ENST00000602326.1 - 26 3987 c.3404G>A c.(3403-3405)cGt>cAt p.R1135H EIF4G3_ENST00000537738.1_Missense_Mutation_p.R619H|EIF4G3_ENST00000264211.8_Missense_Mutation_p.R1129H|EIF4G3_ENST00000374935.3_Missense_Mutation_p.R849H|EIF4G3_ENST00000400422.1_Missense_Mutation_p.R1129H|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R733H|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R1135H NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 1129 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CATACTTCCACGACTTAAAAG 0.423000 10 20 0 0 1 0 0 CPNE6 9362 broad.mit.edu 37 14 24546879 24546879 + Silent SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr14:24546879C>A ENST00000397016.2 + 17 1925 c.1614C>A c.(1612-1614)ggC>ggA p.G538G CPNE6_ENST00000537691.1_Silent_p.G593G|CPNE6_ENST00000216775.2_Silent_p.G538G O95741 CPNE6_HUMAN copine VI (neuronal) 538 lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(265;0.0184) CCAGCCAGGGCATCAGCCCTG 0.672000 19 62 2.94398e-08 3.641e-08 1 1 0 HERC2 8924 broad.mit.edu 37 15 28413618 28413618 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr15:28413618C>T ENST00000261609.7 - 67 10456 c.10348G>A c.(10348-10350)Gaa>Aaa p.E3450K NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3450 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AGCATGCATTCTTCTCCATTC 0.532000 24 96 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32171982 32171982 + Missense_Mutation SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr6:32171982G>A ENST00000375023.3 - 19 3188 c.3050C>T c.(3049-3051)cCc>cTc p.P1017L NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1017 EGF-like 26. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 AGTGCCTGTGGGGTGGCAGGG 0.617000 6 32 0 0 1 0 0 FTH1P10 2502 broad.mit.edu 37 5 17353980 17353980 + RNA SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr5:17353980G>T ENST00000401830.3 - 0 753 NR_002201.1 TTAGCCTGAGGCTTAGCTTTC 0.493000 3 34 0.115264 0.116734 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141607808 141607808 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:141607808G>T ENST00000389484.3 - 29 5773 c.4802C>A c.(4801-4803)aCa>aAa p.T1601K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1601 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATCAGGGACTGTAAATGCCGT 0.343000 TSP Lung(27;0.18) 4 39 3.59834e-05 3.99033e-05 1 1 0 PCLO 27445 broad.mit.edu 37 7 82474677 82474677 + Silent SNP T T A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:82474677T>A ENST00000423517.2 - 13 14293 c.13956A>T c.(13954-13956)tcA>tcT p.S4652S PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Silent_p.S4652S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4540 C2 1. 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 ATGTAGGACCTGAATGAACAT 0.517000 5 33 0 0 1 0 0 HS3ST1 9957 broad.mit.edu 37 4 11401183 11401183 + Silent SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr4:11401183C>A ENST00000002596.5 - 2 1621 c.447G>T c.(445-447)ccG>ccT p.P149P NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 149 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 CGCGCTCCGACGGGTCTCGCA 0.592000 7 24 0.000157383 0.000171652 1 1 0 NSDHL 50814 broad.mit.edu 37 X 152018810 152018810 + Splice_Site SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:152018810C>A ENST00000370274.3 + 3 304 c.108_splice c.e3-1 p.A37_splice NSDHL_ENST00000440023.1_Splice_Site_p.A37_splice NM_015922.2 NP_057006.1 Q15738 NSDHL_HUMAN NAD(P) dependent steroid dehydrogenase-like 37 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5) 15 Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) TTTCCACAGGCCAAGAGATGC 0.512000 23 100 4.72057e-08 5.76636e-08 1 1 0 ZNF772 400720 broad.mit.edu 37 19 57985525 57985525 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr19:57985525C>A ENST00000343280.4 - 5 847 c.587G>T c.(586-588)gGa>gTa p.G196V ZNF772_ENST00000427512.2_Missense_Mutation_p.G84V|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.G155V|ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000596831.1_Intron NM_001024596.2 NP_001019767.1 Q68DY9 ZN772_HUMAN zinc finger protein 772 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(4)|lung(3) 9 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174) GGGTTTCTCTCCACTGTGCTG 0.488000 10 55 2.27111e-07 2.72396e-07 1 1 0 ATP13A3 79572 broad.mit.edu 37 3 194154508 194154508 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr3:194154508C>A ENST00000439040.1 - 21 3029 c.2238G>T c.(2236-2238)atG>atT p.M746I ATP13A3_ENST00000256031.4_Missense_Mutation_p.M746I Q9H7F0 AT133_HUMAN ATPase type 13A3 746 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) AACCTGTGACCATGACGGTGC 0.338000 18 26 3.6726e-16 5.62943e-16 1 1 0 DAW1 164781 broad.mit.edu 37 2 228786155 228786155 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:228786155G>T ENST00000309931.2 + 12 1174 c.1091G>T c.(1090-1092)aGc>aTc p.S364I DAW1_ENST00000545118.1_Missense_Mutation_p.S349I|DAW1_ENST00000373666.2_3'UTR NM_178821.1 NP_849143.1 dynein assembly factor with WDR repeat domains 1 CTAACTGGCAGCTCTGACAAA 0.428000 23 47 7.01153e-11 9.40398e-11 1 1 0 PIGN 23556 broad.mit.edu 37 18 59713182 59713182 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr18:59713182C>A ENST00000357637.5 - 31 3118 c.2703G>T c.(2701-2703)atG>atT p.M901I PIGN_ENST00000400334.3_Missense_Mutation_p.M901I NM_176787.4 NP_789744.1 O95427 PIGN_HUMAN phosphatidylinositol glycan anchor biosynthesis, class N 901 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(73;0.187) AAAAGATGGTCATGGACATGA 0.453000 7 6 2.17888e-05 2.42982e-05 1 1 0 SLITRK3 22865 broad.mit.edu 37 3 164907524 164907524 + Silent SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr3:164907524G>T ENST00000475390.1 - 2 1538 c.1095C>A c.(1093-1095)acC>acA p.T365T SLITRK3_ENST00000241274.3_Silent_p.T365T O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 365 LRRNT. integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 TTGGTGGTCTGGTCTGATAAG 0.502000 HNSCC(40;0.11) 123 109 1.75003e-54 3.17243e-54 1 1 0 OR2D2 120776 broad.mit.edu 37 11 6913141 6913141 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:6913141C>T ENST00000299459.2 - 1 689 c.591G>A c.(589-591)atG>atA p.M197I NM_003700.1 NP_003691.1 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, member 2 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GAAAAATGGCCATCTCTGATG 0.453000 7 28 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87190657 87190657 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:87190657G>T ENST00000265724.3 - 9 1166 c.749C>A c.(748-750)gCt>gAt p.A250D ABCB1_ENST00000543898.1_Missense_Mutation_p.A186D NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 250 ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TACTGCTCCAGCTTTTGCATA 0.318000 3 28 2.56e-06 2.9717e-06 1 1 0 HPD 3242 broad.mit.edu 37 12 122295276 122295276 + Silent SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr12:122295276G>T ENST00000543163.1 - 5 484 c.39C>A c.(37-39)acC>acA p.T13T HPD_ENST00000289004.4_Silent_p.T52T NM_001171993.1 NP_001165464.1 P32754 HPPD_HUMAN 4-hydroxyphenylpyruvate dioxygenase 52 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1) 18 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) CCCGGGAACCGGTCTCCAGGC 0.582000 50 65 2.41709e-19 3.86929e-19 1 1 0 XPOT 11260 broad.mit.edu 37 12 64812830 64812830 + Missense_Mutation SNP A A G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr12:64812830A>G ENST00000332707.5 + 6 974 c.445A>G c.(445-447)Att>Gtt p.I149V NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 149 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) CCTCATGGCTATTGATTCAGA 0.388000 19 125 0 0 1 0 0 NKD1 85407 broad.mit.edu 37 16 50659433 50659433 + Missense_Mutation SNP G G T rs141900711 byFrequency TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr16:50659433G>T ENST00000268459.3 + 6 628 c.404G>T c.(403-405)cGg>cTg p.R135L NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 135 EF-hand.|Interaction with DVL1, DVL2 and DVL3 (By similarity). Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) GAGGACAGCCGGCAGGAGTGG 0.602000 17 50 4.35082e-09 5.55394e-09 1 1 0 SIPA1L3 23094 broad.mit.edu 37 19 38632048 38632048 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr19:38632048G>T ENST00000222345.6 + 11 3877 c.3368G>T c.(3367-3369)cGg>cTg p.R1123L NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1123 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GTCCCCTTCCGGGAGTCCCAG 0.647000 39 91 3.43241e-23 5.7255e-23 1 1 0 ARSF 416 broad.mit.edu 37 X 3002584 3002584 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:3002584G>T ENST00000381127.1 + 6 928 c.707G>T c.(706-708)aGc>aTc p.S236I ARSF_ENST00000537104.1_Missense_Mutation_p.S236I|ARSF_ENST00000359361.2_Missense_Mutation_p.S236I NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 236 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGGTTCTCCAGCCACACGTCC 0.542000 19 66 1.45105e-14 2.18207e-14 1 1 0 SNX24 28966 broad.mit.edu 37 5 122281796 122281796 + Missense_Mutation SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr5:122281796G>A ENST00000261369.4 + 3 376 c.191G>A c.(190-192)aGg>aAg p.R64K SNX24_ENST00000513881.1_Missense_Mutation_p.R64K|SNX24_ENST00000395451.4_Missense_Mutation_p.R97K|SNX24_ENST00000511211.1_3'UTR|SNX24_ENST00000506996.1_Missense_Mutation_p.R64K NM_014035.2 NP_054754.1 Q9Y343 SNX24_HUMAN sorting nexin 24 64 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding lung(5) 5 Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139) AAACATGTTAGGAACTGGGTC 0.323000 8 21 0 0 1 0 0 CECR7 100130418 broad.mit.edu 37 22 17528314 17528314 + RNA SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr22:17528314C>A ENST00000441006.1 + 0 1004 NR_015352.1 GTGACAGCCCCATGTAAGTAC 0.552000 7 5 5.4927e-09 6.9446e-09 1 1 0 F7 2155 broad.mit.edu 37 13 113773108 113773108 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr13:113773108G>T ENST00000375581.3 + 9 1222 c.1187G>T c.(1186-1188)aGc>aTc p.S396I F7_ENST00000541084.1_Missense_Mutation_p.S327I|F7_ENST00000346342.3_Missense_Mutation_p.S374I NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 396 Peptidase S1. anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) TCGGATGGCAGCAAGGACTCC 0.642000 6 18 5.18039e-06 5.94398e-06 1 1 0 RELN 5649 broad.mit.edu 37 7 103180648 103180648 + Missense_Mutation SNP T T A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:103180648T>A ENST00000428762.1 - 44 7085 c.6926A>T c.(6925-6927)gAt>gTt p.D2309V RELN_ENST00000343529.5_Missense_Mutation_p.D2309V|RELN_ENST00000424685.2_Missense_Mutation_p.D2309V NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 2309 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ACTGACCTGATCGATAACCCA 0.488000 18 50 0 0 1 0 0 LILRB2 10288 broad.mit.edu 37 19 54783406 54783406 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr19:54783406C>A ENST00000391748.1 - 5 579 c.452G>T c.(451-453)gGc>gTc p.G151V LILRB2_ENST00000314446.5_Missense_Mutation_p.G151V|LILRB2_ENST00000391746.1_Missense_Mutation_p.G151V|LILRB2_ENST00000391749.4_Missense_Mutation_p.G151V|LILRB2_ENST00000434421.1_Missense_Mutation_p.G35V NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 151 Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AATGAAGCCGCCAAATGCCAC 0.607000 35 46 7.53189e-24 1.26702e-23 1 1 0 MTBP 27085 broad.mit.edu 37 8 121457828 121457828 + Splice_Site SNP G G C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr8:121457828G>C ENST00000305949.1 + 1 163 c.118_splice c.e1+1 p.D40_splice NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 40 cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) GAATCAGCCGGGTAAGCGCTG 0.547000 7 42 0 0 1 0 0 OPN3 23596 broad.mit.edu 37 1 241757995 241757995 + Splice_Site SNP T T A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:241757995T>A ENST00000366554.2 - 4 1052 c.e4-2 OPN3_ENST00000469376.1_Splice_Site|KMO_ENST00000366557.4_3'UTR|KMO_ENST00000366559.4_3'UTR|OPN3_ENST00000331838.5_Splice_Site NM_014322.2 NP_055137.2 Q9H1Y3 OPN3_HUMAN opsin 3 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception integral to plasma membrane G-protein coupled photoreceptor activity endometrium(1)|large_intestine(5)|lung(5) 11 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) TCTTCGAAACTGGGCAGAGAA 0.428000 21 61 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51169805 51169805 + Silent SNP T T A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr19:51169805T>A ENST00000293441.1 - 22 5430 c.5412A>T c.(5410-5412)tcA>tcT p.S1804S SHANK1_ENST00000391814.1_Silent_p.S1812S|SHANK1_ENST00000391813.1_Silent_p.S1191S|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Silent_p.S1795S NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 1804 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TGGGGGGTCCTGAACAAGCAC 0.716000 3 5 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123587252 123587252 + Missense_Mutation SNP T T A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:123587252T>A ENST00000422452.2 - 23 4102 c.4039A>T c.(4039-4041)Atc>Ttc p.I1347F TENM1_ENST00000371130.3_Missense_Mutation_p.I1340F NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TTTGAGCCGATTACAGTTGTG 0.418000 17 79 0 0 1 0 0 JADE2 23338 broad.mit.edu 37 5 133895665 133895665 + Nonsense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr5:133895665G>T ENST00000395003.1 + 5 636 c.457G>T c.(457-459)Gag>Tag p.E153* PHF15_ENST00000282605.4_Nonsense_Mutation_p.E153*|PHF15_ENST00000361895.2_Nonsense_Mutation_p.E153*|PHF15_ENST00000402835.1_Nonsense_Mutation_p.E153* NM_015288.4 NP_056103.4 Q9NQC1 JADE2_HUMAN 153 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CATCAACTCGGAGCTTAAGGA 0.592000 12 12 3.27435e-08 4.03701e-08 1 1 0 F8 2157 broad.mit.edu 37 X 154091369 154091369 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:154091369C>T ENST00000360256.4 - 23 6763 c.6563G>A c.(6562-6564)tGt>tAt p.C2188Y F8_ENST00000330287.6_Missense_Mutation_p.C53Y NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 2188 F5/8 type C 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) ATTTAAATCACAGCCCATCAA 0.443000 21 95 0 0 1 0 0 PPFIA4 8497 broad.mit.edu 37 1 203029447 203029447 + Missense_Mutation SNP A A T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:203029447A>T ENST00000367240.2 + 21 3150 c.2623A>T c.(2623-2625)Atc>Ttc p.I875F PPFIA4_ENST00000272198.6_Missense_Mutation_p.I390F|PPFIA4_ENST00000599966.1_Missense_Mutation_p.I390F|PPFIA4_ENST00000414050.2_Missense_Mutation_p.I603F|PPFIA4_ENST00000295706.4_Missense_Mutation_p.I390F|PPFIA4_ENST00000447715.2_Missense_Mutation_p.I874F O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 390 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 CCAGCGGGAGATCGGCATCAG 0.632000 21 88 0 0 1 0 0 KCTD16 57528 broad.mit.edu 37 5 143586715 143586715 + Silent SNP C C T rs147117374 TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr5:143586715C>T ENST00000507359.2 + 2 1529 c.438C>T c.(436-438)agC>agT p.S146S KCTD16_ENST00000512467.1_Silent_p.S146S NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 146 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) CCCAAGGAAGCGACACAAGAA 0.552000 12 38 0 0 1 0 0 QSOX2 169714 broad.mit.edu 37 9 139101020 139101020 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr9:139101020C>T ENST00000358701.5 - 12 1688 c.1651G>A c.(1651-1653)Gaa>Aaa p.E551K NM_181701.3 NP_859052.3 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 551 cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) ACGTGGCCTTCATCCCAGCTG 0.577000 18 67 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23518025 23518025 + Missense_Mutation SNP C C A rs62342743 TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr5:23518025C>A ENST00000296682.3 + 5 519 c.337C>A c.(337-339)Cgt>Agt p.R113S NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 113 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 AGTGGAACAGCGTAAACACCA 0.408000 HNSCC(3;0.000094) 50 127 6.20203e-27 1.07053e-26 1 1 0 SAMD14 201191 broad.mit.edu 37 17 48193255 48193255 + Silent SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr17:48193255G>T ENST00000330175.4 - 6 918 c.601C>A c.(601-603)Cga>Aga p.R201R SAMD14_ENST00000503131.1_Silent_p.R201R NM_001257359.1 NP_001244288.1 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 201 breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 15 GTGGATGCTCGGCGCAGGGTG 0.682000 16 1 5.03518e-11 6.79921e-11 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 3 30 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212295774 212295774 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:212295774G>T ENST00000342788.4 - 21 2849 c.2539C>A c.(2539-2541)Cgt>Agt p.R847S ERBB4_ENST00000436443.1_Missense_Mutation_p.R847S|ERBB4_ENST00000402597.1_Missense_Mutation_p.R837S NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 847 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) AAGACATTACGGGCTGCCAAA 0.413000 TSP Lung(8;0.080) 16 90 3.62473e-10 4.70268e-10 1 1 0 ZNF770 54989 broad.mit.edu 37 15 35275509 35275509 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr15:35275509C>A ENST00000356321.4 - 3 471 c.127G>T c.(127-129)Gct>Tct p.A43S NM_014106.3 NP_054825.2 Q6IQ21 ZN770_HUMAN zinc finger protein 770 43 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1) 29 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) TAGTGCCTAGCTAATTTTGAT 0.373000 6 10 0.00448238 0.00467062 1 1 0 TRPC3 7222 broad.mit.edu 37 4 122825631 122825631 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr4:122825631C>A ENST00000264811.5 - 7 2298 c.1880G>T c.(1879-1881)gGg>gTg p.G627V TRPC3_ENST00000513531.1_Missense_Mutation_p.G572V|TRPC3_ENST00000379645.3_Missense_Mutation_p.G700V NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 615 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TTCAGACAACCCAAATATTGA 0.303000 22 11 4.47668e-21 7.28378e-21 1 1 0 WAS 7454 broad.mit.edu 37 X 48547293 48547293 + Silent SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:48547293C>A ENST00000376701.4 + 10 1251 c.1176C>A c.(1174-1176)ccC>ccA p.P392P NM_000377.2 NP_000368.1 P42768 WASP_HUMAN Wiskott-Aldrich syndrome 392 Poly-Pro. blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(315;1.27e-10) GTGGGCCACCCATGccaccac 0.746000 """Mis, N, F, S""" lymphoma 5 3 0.217242 0.218342 1 1 0 TAF1 6872 broad.mit.edu 37 X 70598689 70598689 + Nonsense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:70598689G>T ENST00000449580.1 + 8 1216 c.1165G>T c.(1165-1167)Gag>Tag p.E389* TAF1_ENST00000276072.3_Nonsense_Mutation_p.E410*|TAF1_ENST00000423759.1_Nonsense_Mutation_p.E410*|TAF1_ENST00000373790.4_Nonsense_Mutation_p.E389* P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 389 Protein kinase 1. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) TAGGAAACTTGAGGAAAACAA 0.423000 49 97 9.82405e-12 1.34953e-11 1 1 0 ACSM2A 123876 broad.mit.edu 37 16 20477044 20477044 + Missense_Mutation SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr16:20477044G>A ENST00000573854.1 + 3 497 c.383G>A c.(382-384)cGa>cAa p.R128Q ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.R128Q|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.R128Q|ACSM2A_ENST00000417235.2_Missense_Mutation_p.R49Q|ACSM2A_ENST00000396104.2_Missense_Mutation_p.R128Q|ACSM2A_ENST00000219054.6_Missense_Mutation_p.R128Q NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 128 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 GGCTGCATTCGAGCAGGTTGG 0.562000 16 42 0 0 1 0 0 C1QB 713 broad.mit.edu 37 1 22987797 22987797 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:22987797C>A ENST00000509305.1 + 3 1020 c.674C>A c.(673-675)aCc>aAc p.T225N C1QB_ENST00000314933.6_Missense_Mutation_p.T227N P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 227 C1q. complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CTGCAGGCCACCGACAAGAAC 0.572000 19 72 2.37509e-13 3.42877e-13 1 1 0 ARHGAP10 79658 broad.mit.edu 37 4 148887931 148887931 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr4:148887931C>T ENST00000336498.3 + 18 1896 c.1657C>T c.(1657-1659)Ctc>Ttc p.L553F ARHGAP10_ENST00000414545.2_Missense_Mutation_p.L202F NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 553 Rho-GAP. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) TGTCGCTGCCCTCATGGACTT 0.388000 13 57 0 0 1 0 0 ZIC3 7547 broad.mit.edu 37 X 136649747 136649747 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:136649747G>T ENST00000287538.5 + 1 1447 c.897G>T c.(895-897)tgG>tgT p.W299C ZIC3_ENST00000370606.3_Missense_Mutation_p.W299C NM_003413.3 NP_003404.1 O60481 ZIC3_HUMAN Zic family member 3 299 Nuclear localization signal. cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) TCTGCTACTGGGAGGAGTGCC 0.607000 15 84 1.99824e-07 2.40394e-07 1 1 0 ANO6 196527 broad.mit.edu 37 12 45742393 45742393 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr12:45742393G>T ENST00000320560.8 + 6 928 c.726G>T c.(724-726)aaG>aaT p.K242N ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Missense_Mutation_p.K263N|ANO6_ENST00000441606.2_Missense_Mutation_p.K224N|ANO6_ENST00000435642.1_Missense_Mutation_p.K242N|ANO6_ENST00000425752.2_Missense_Mutation_p.K242N NM_001025356.2 NP_001020527.2 Q4KMQ2 ANO6_HUMAN anoctamin 6 242 activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GGATCTACAAGGCAGCTTTCC 0.398000 26 54 1.68575e-08 2.11118e-08 1 1 0 SLC9A3 6550 broad.mit.edu 37 5 475205 475205 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr5:475205C>T ENST00000264938.3 - 16 2303 c.2294G>A c.(2293-2295)cGc>cAc p.R765H SLC9A3_ENST00000514375.1_Missense_Mutation_p.R756H|CTD-2228K2.7_ENST00000607286.1_RNA NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 765 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CAGGAGGCTGCGGTCCAGGGC 0.682000 3 60 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40747103 40747103 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr20:40747103C>A ENST00000373198.3 - 22 3223 c.2988G>T c.(2986-2988)atG>atT p.M996I PTPRT_ENST00000373184.1_Missense_Mutation_p.M964I|PTPRT_ENST00000356100.2_Missense_Mutation_p.M983I|PTPRT_ENST00000373193.3_Missense_Mutation_p.M977I|PTPRT_ENST00000373201.1_Missense_Mutation_p.M964I|PTPRT_ENST00000373190.1_Missense_Mutation_p.M973I|PTPRT_ENST00000373187.1_Missense_Mutation_p.M974I NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 974 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CCTGCCAGATCATTCTCCAAA 0.537000 46 59 4.02871e-13 5.77399e-13 1 1 0 UGT2B28 54490 broad.mit.edu 37 4 70156385 70156385 + Missense_Mutation SNP C C G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr4:70156385C>G ENST00000335568.5 + 5 1168 c.1166C>G c.(1165-1167)cCt>cGt p.P389R UGT2B28_ENST00000511240.1_Intron NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 389 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) CATGGGATCCCTATGGTAGGC 0.443000 16 78 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 5 45 0 0 1 0 0 SLC27A6 28965 broad.mit.edu 37 5 128351612 128351612 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr5:128351612C>A ENST00000262462.4 + 5 2014 c.1004C>A c.(1003-1005)gCa>gAa p.A335E SLC27A6_ENST00000506176.1_Missense_Mutation_p.A335E|SLC27A6_ENST00000395266.1_Missense_Mutation_p.A335E Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 335 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) GTGCGTTTGGCAATTGGAAAT 0.328000 10 38 0.00136819 0.00144078 1 1 0 XK 7504 broad.mit.edu 37 X 37545435 37545435 + Missense_Mutation SNP T T G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:37545435T>G ENST00000378616.3 + 1 424 c.221T>G c.(220-222)cTg>cGg p.L74R TM4SF2_ENST00000465127.1_Intron NM_021083.2 NP_066569.1 P51811 XK_HUMAN X-linked Kx blood group (McLeod syndrome) 74 amino acid transport integral to membrane protein binding|transporter activity breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(315;0.175) CTGCTGCACCTGCTGCAACTT 0.647000 5 12 0 0 1 0 0 DDX53 168400 broad.mit.edu 37 X 23018323 23018323 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:23018323C>A ENST00000327968.5 + 1 237 c.149C>A c.(148-150)cCa>cAa p.P50Q RP11-40F8.2_ENST00000455399.1_RNA NM_182699.3 NP_874358.2 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 50 KH. nucleus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 35 CGTGAACCACCACTCTGCTTT 0.502000 25 33 9.04412e-07 1.06543e-06 1 1 0 ZCCHC5 203430 broad.mit.edu 37 X 77912669 77912669 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:77912669C>A ENST00000321110.1 - 2 1544 c.1249G>T c.(1249-1251)Gct>Tct p.A417S NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 417 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 TGGTTTTCAGCTGGTGGACTC 0.517000 70 66 7.2426e-40 1.30696e-39 1 1 0 DCAF8L1 139425 broad.mit.edu 37 X 27998829 27998829 + Missense_Mutation SNP C C G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:27998829C>G ENST00000441525.1 - 1 737 c.623G>C c.(622-624)gGc>gCc p.G208A NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 208 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 CAGTCGGGTGCCACGCTGGTT 0.532000 10 16 0 0 1 0 0 OR5T3 390154 broad.mit.edu 37 11 56020466 56020466 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:56020466G>T ENST00000303059.3 + 1 791 c.791G>T c.(790-792)aGg>aTg p.R264M NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) GCTAAGGGAAGGCAAAAGGCC 0.413000 34 76 6.53348e-20 1.05439e-19 1 1 0 OGDHL 55753 broad.mit.edu 37 10 50954876 50954876 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr10:50954876C>T ENST00000374103.4 - 10 1301 c.1216G>A c.(1216-1218)Gtg>Atg p.V406M OGDHL_ENST00000432695.1_Missense_Mutation_p.V197M|OGDHL_ENST00000419399.1_Missense_Mutation_p.V349M NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 406 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 TCATATACCACGCCCTGGCCA 0.627000 6 29 0 0 1 0 0 LPAR2 9170 broad.mit.edu 37 19 19737900 19737900 + Missense_Mutation SNP T T G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr19:19737900T>G ENST00000542587.1 - 5 1096 c.194A>C c.(193-195)cAg>cCg p.Q65P LPAR2_ENST00000586703.1_Missense_Mutation_p.Q65P|LPAR2_ENST00000407877.3_Missense_Mutation_p.Q65P Q9HBW0 LPAR2_HUMAN lysophosphatidic acid receptor 2 65 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration cell surface|integral to plasma membrane LIM domain binding|lipid binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 10 GTAGATGGGCTGGTGGAAGCG 0.642000 5 5 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92760594 92760594 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:92760594C>A ENST00000318238.4 - 5 5907 c.4691G>T c.(4690-4692)aGa>aTa p.R1564I SAMD9L_ENST00000411955.1_Missense_Mutation_p.R1564I|SAMD9L_ENST00000437805.1_Missense_Mutation_p.R1564I NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1564 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) GAAAGACACTCTTTCTATGTT 0.348000 6 29 0.0293803 0.0301395 1 1 0 ZNF131 7690 broad.mit.edu 37 5 43174673 43174673 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr5:43174673G>T ENST00000509634.1 + 7 1664 c.1208G>T c.(1207-1209)aGg>aTg p.R403M ZNF131_ENST00000399534.1_Missense_Mutation_p.R437M|ZNF131_ENST00000509156.1_Missense_Mutation_p.R437M|ZNF131_ENST00000505606.2_Missense_Mutation_p.R403M|ZNF131_ENST00000306938.4_Missense_Mutation_p.R403M|ZNF131_ENST00000509931.1_Intron P52739 ZN131_HUMAN zinc finger protein 131 437 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 GAATTAAGGAGGCATCTCAGT 0.393000 60 58 3.13743e-37 5.61063e-37 1 1 0 COL6A3 1293 broad.mit.edu 37 2 238296691 238296691 + Silent SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:238296691C>A ENST00000295550.4 - 4 1298 c.846G>T c.(844-846)ggG>ggT p.G282G COL6A3_ENST00000409809.1_Silent_p.G76G|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000392004.3_Silent_p.G76G|COL6A3_ENST00000353578.4_Silent_p.G76G|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000346358.4_Silent_p.G282G NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 282 Nonhelical region.|VWFA 2. 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) ACTGGACCACCCCCACTCGGA 0.517000 23 49 3.73988e-18 5.91527e-18 1 1 0 NUF2 83540 broad.mit.edu 37 1 163318841 163318841 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:163318841G>T ENST00000271452.3 + 13 1510 c.1231G>T c.(1231-1233)Gct>Tct p.A411S NUF2_ENST00000524800.1_Missense_Mutation_p.A364S|NUF2_ENST00000367900.3_Missense_Mutation_p.A411S NM_145697.2 NP_663735.2 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 411 Interaction with the C-terminus of NDC80 and the SPBC24-SPBC25 subcomplex. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 all_hematologic(923;0.101) ACTAAAAGATGCTGCTGAAAG 0.313000 18 17 3.62473e-10 4.70268e-10 1 1 0 FHL5 9457 broad.mit.edu 37 6 97063599 97063599 + Missense_Mutation SNP A A G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr6:97063599A>G ENST00000326771.2 + 7 1186 c.806A>G c.(805-807)aAg>aGg p.K269R FHL5_ENST00000541107.1_Missense_Mutation_p.K269R NM_020482.4 NP_065228.4 Q5TD97 FHL5_HUMAN four and a half LIM domains 5 269 LIM zinc-binding 4. nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) ACCCAGAACAAGGAAATCTTC 0.468000 4 34 0 0 1 0 0 PRKCH 5583 broad.mit.edu 37 14 62016507 62016507 + Silent SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr14:62016507G>A ENST00000332981.5 + 14 2395 c.2010G>A c.(2008-2010)gaG>gaA p.E670E RP11-47I22.4_ENST00000556347.1_Intron|PRKCH_ENST00000555082.1_Silent_p.E509E|PRKCH_ENST00000556245.1_3'UTR NM_006255.3 NP_006246.2 P24723 KPCL_HUMAN protein kinase C, eta 670 AGC-kinase C-terminal. intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity p.E670E(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) ACCAGGATGAGTTTAGAAACT 0.438000 12 30 0 0 1 0 0 MMP2 4313 broad.mit.edu 37 16 55522550 55522550 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr16:55522550C>T ENST00000219070.4 + 6 1437 c.928C>T c.(928-930)Cgc>Tgc p.R310C MMP2_ENST00000437642.2_Missense_Mutation_p.R260C|MMP2_ENST00000543485.1_Missense_Mutation_p.R234C|MMP2_ENST00000570308.1_Missense_Mutation_p.R234C NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 310 Collagen-binding.|Fibronectin type-II 2. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding p.R310C(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) CACTGAGGGCCGCACGGATGG 0.617000 7 16 0 0 1 0 0 CSN2 1447 broad.mit.edu 37 4 70823321 70823321 + Missense_Mutation SNP G G C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr4:70823321G>C ENST00000353151.3 - 5 357 c.346C>G c.(346-348)Cct>Gct p.P116A NM_001891.2 NP_001882.1 P05814 CASB_HUMAN casein beta 116 calcium ion transport extracellular region calcium ion binding|enzyme inhibitor activity|transporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2) 12 TTAAGGACAGGCATCACTCTG 0.488000 5 47 0 0 1 0 0 AMELX 265 broad.mit.edu 37 X 11316934 11316934 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:11316934C>A ENST00000380712.3 + 6 521 c.453C>A c.(451-453)caC>caA p.H151Q ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000413512.3_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.H121Q|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000380714.3_Missense_Mutation_p.H137Q|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron NM_182680.1 NP_872621.1 Q99217 AMELX_HUMAN amelogenin, X-linked 137 cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction proteinaceous extracellular matrix cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 15 CACAGCCTCACCAGCCCATGC 0.672000 12 41 4.93089e-13 7.0416e-13 1 1 0 C9orf172 389813 broad.mit.edu 37 9 139740228 139740228 + Silent SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr9:139740228C>A ENST00000436881.1 + 1 1362 c.1362C>A c.(1360-1362)gcC>gcA p.A454A NM_001080482.2 NP_001073951.2 C9J069 CI172_HUMAN chromosome 9 open reading frame 172 454 endometrium(2)|large_intestine(1)|lung(6) 9 ACATTCTGGCCCCGGGGCCGC 0.751000 2 2 1 1 1 1 0 FIGN 55137 broad.mit.edu 37 2 164466137 164466137 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:164466137C>A ENST00000333129.3 - 3 2519 c.2205G>T c.(2203-2205)aaG>aaT p.K735N FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 735 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 TAGGCTGAATCTTGCAGAAAG 0.423000 10 60 0.000978159 0.00104671 1 1 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143577 61143577 + RNA SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr20:61143577G>A ENST00000475015.1 - 0 761 C20orf166-AS1_ENST00000412495.1_RNA AGGGGATTGGGATGCCGCCTG 0.652000 15 29 0 0 1 0 0 NHS 4810 broad.mit.edu 37 X 17744497 17744497 + Silent SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:17744497C>A ENST00000380060.3 + 6 2546 c.2208C>A c.(2206-2208)gcC>gcA p.A736A NHS_ENST00000398097.3_Silent_p.A580A NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 736 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) CAAGCATGGCCACTTATGACA 0.512000 49 48 3.19069e-20 5.17021e-20 1 1 0 FBN2 2201 broad.mit.edu 37 5 127627283 127627283 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr5:127627283C>A ENST00000508053.1 - 55 7204 c.6230G>T c.(6229-6231)gGg>gTg p.G2077V FBN2_ENST00000262464.4_Missense_Mutation_p.G2077V P35556 FBN2_HUMAN fibrillin 2 2077 EGF-like 35; 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) CTGGAAGCCCCCTGGAGTATT 0.443000 48 24 8.78508e-14 1.28697e-13 1 1 0 AMY2B 280 broad.mit.edu 37 1 104116893 104116893 + Silent SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:104116893G>T ENST00000361355.4 + 7 1372 c.756G>T c.(754-756)ctG>ctT p.L252L AMY2B_ENST00000491397.1_3'UTR NM_020978.3 NP_066188.1 P19961 AMY2B_HUMAN amylase, alpha 2B (pancreatic) 252 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1) 46 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) TAATTGATCTGGGTGGTGAGC 0.348000 22 125 6.44725e-10 8.33733e-10 1 1 0 CD163 9332 broad.mit.edu 37 12 7639558 7639558 + Nonsense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr12:7639558G>T ENST00000359156.4 - 9 2277 c.2075C>A c.(2074-2076)tCg>tAg p.S692* CD163_ENST00000541972.1_Nonsense_Mutation_p.S680*|CD163_ENST00000396620.3_Nonsense_Mutation_p.S725*|CD163_ENST00000432237.2_Nonsense_Mutation_p.S692* NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 692 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity p.S692*(1) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TGAATTGCACGAGGACAGTGT 0.438000 91 15 1.09905e-38 1.9743e-38 1 1 0 MYCBP2 23077 broad.mit.edu 37 13 77656071 77656071 + Silent SNP G G C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr13:77656071G>C ENST00000407578.2 - 64 11360 c.11094C>G c.(11092-11094)gtC>gtG p.V3698V MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2_ENST00000357337.6_Silent_p.V3660V|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2_ENST00000544440.2_Silent_p.V3660V|MYCBP2-AS1_ENST00000422231.2_RNA NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3660 DOC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TGTGATGAAAGACGTTGCTCT 0.368000 15 62 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70319439 70319439 + Silent SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:70319439G>A ENST00000338508.4 - 33 5087 c.5088C>T c.(5086-5088)ccC>ccT p.P1696P SHANK2_ENST00000409161.1_Silent_p.P1099P|SHANK2_ENST00000423696.2_Silent_p.P1316P|SHANK2_ENST00000449833.2_Silent_p.P1100P Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1316 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TTTCATAGTCGGGGGGCCGGC 0.627000 9 43 0 0 1 0 0 RCHY1 25898 broad.mit.edu 37 4 76416960 76416960 + Silent SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr4:76416960G>A ENST00000324439.5 - 6 881 c.483C>T c.(481-483)gtC>gtT p.V161V RCHY1_ENST00000451788.1_Silent_p.V161V|RCHY1_ENST00000512706.1_Silent_p.V139V|RCHY1_ENST00000513257.1_Silent_p.V161V|RCHY1_ENST00000380840.2_Silent_p.V121V NM_001278536.1|NM_001278538.1|NM_001278539.1 NP_001265465.1|NP_001265467.1|NP_001265468.1 Q96PM5 ZN363_HUMAN ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase 161 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nuclear speck|ubiquitin ligase complex electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|pancreas(1) 3 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) CACATGGCAAGACATGAGCAA 0.303000 6 27 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TTGAAACAGCTGGTGTATTAA 0.373000 3 35 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117783531 117783531 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr9:117783531G>T ENST00000350763.4 - 28 6922 c.6511C>A c.(6511-6513)Cac>Aac p.H2171N TNC_ENST00000535648.1_Missense_Mutation_p.H1716N|TNC_ENST00000537320.1_Missense_Mutation_p.H1534N|TNC_ENST00000542877.1_Missense_Mutation_p.H1808N|TNC_ENST00000341037.4_Missense_Mutation_p.H1989N|TNC_ENST00000345230.3_Missense_Mutation_p.H1534N|TNC_ENST00000340094.3_Missense_Mutation_p.H1807N|TNC_ENST00000346706.3_Missense_Mutation_p.H1625N|TNC_ENST00000423613.2_Missense_Mutation_p.H1898N NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 2171 Fibrinogen C-terminal. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 CCCTTCCAGTGGAACCAGTTA 0.468000 12 20 6.72482e-11 9.05002e-11 1 1 0 ZNF33A 7581 broad.mit.edu 37 10 38344866 38344866 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr10:38344866G>T ENST00000374618.3 + 5 1992 c.1814G>T c.(1813-1815)gGg>gTg p.G605V ZNF33A_ENST00000458705.2_Missense_Mutation_p.G604V|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.G604V|ZNF33A_ENST00000432900.2_Missense_Mutation_p.G611V NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 604 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G604V(1) cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 ACACATACAGGGGAGAAACCC 0.373000 20 31 7.45023e-12 1.02699e-11 1 1 0 ADAM2 2515 broad.mit.edu 37 8 39646227 39646227 + Silent SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr8:39646227G>A ENST00000265708.4 - 8 706 c.603C>T c.(601-603)gtC>gtT p.V201V ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000347580.4_Silent_p.V182V|ADAM2_ENST00000521880.1_Silent_p.V201V NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 201 Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.V201V(2) haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CTTTTTGAGCGACAACAGTTG 0.289000 6 31 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7982324 7982324 + Missense_Mutation SNP T T A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:7982324T>A ENST00000328600.2 - 2 996 c.835A>T c.(835-837)Agg>Tgg p.R279W NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 279 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GTATGTCTCCTAATTAGAAGG 0.522000 19 69 0 0 1 0 0 SEMA3A 10371 broad.mit.edu 37 7 83590845 83590845 + Nonsense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:83590845C>A ENST00000265362.3 - 17 2472 c.2158G>T c.(2158-2160)Gag>Tag p.E720* SEMA3A_ENST00000436949.1_Nonsense_Mutation_p.E720* NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 720 axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 TCACAGAACTCATCCATTGTG 0.453000 23 41 6.36457e-07 7.5425e-07 1 1 0 ANGPT2 285 broad.mit.edu 37 8 6366501 6366501 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr8:6366501C>T ENST00000325203.5 - 8 1756 c.1282G>A c.(1282-1284)Gga>Aga p.G428R ANGPT2_ENST00000415216.1_Missense_Mutation_p.G427R|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000523120.1_Missense_Mutation_p.G427R|ANGPT2_ENST00000338312.6_Missense_Mutation_p.G376R O15123 ANGP2_HUMAN angiopoietin 2 428 Fibrinogen C-terminal. angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) TCGTTGTCTCCATCCTTTGTG 0.408000 29 48 0 0 1 0 0 HAPLN2 60484 broad.mit.edu 37 1 156593864 156593864 + Silent SNP C C G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:156593864C>G ENST00000255039.1 + 4 758 c.351C>G c.(349-351)ggC>ggG p.G117G HAPLN2_ENST00000494218.1_3'UTR NM_021817.2 NP_068589.1 Q9GZV7 HPLN2_HUMAN hyaluronan and proteoglycan link protein 2 117 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 7 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCATCGCGGGCGTGCGCCTGG 0.692000 10 21 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70608668 70608668 + Nonsense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:70608668G>T ENST00000449580.1 + 17 2698 c.2647G>T c.(2647-2649)Gag>Tag p.E883* TAF1_ENST00000276072.3_Nonsense_Mutation_p.E904*|TAF1_ENST00000423759.1_Nonsense_Mutation_p.E904*|TAF1_ENST00000373790.4_Nonsense_Mutation_p.E883* P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 883 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) GGTGTCACCAGAGCAGTGCTG 0.433000 55 54 7.91745e-34 1.39081e-33 1 1 0 PACRGL 133015 broad.mit.edu 37 4 20709442 20709442 + Missense_Mutation SNP G G C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr4:20709442G>C ENST00000360916.5 + 4 615 c.224G>C c.(223-225)cGa>cCa p.R75P PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000444671.2_Intron|PACRGL_ENST00000503585.1_Missense_Mutation_p.R75P|PACRGL_ENST00000507634.1_Missense_Mutation_p.R75P|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000295290.8_Missense_Mutation_p.R75P|PACRGL_ENST00000513459.1_Intron|PACRGL_ENST00000502374.1_Intron NM_145048.3 NP_659485.1 Q8N7B6 PACRL_HUMAN PARK2 co-regulated-like 75 binding endometrium(2)|lung(7)|prostate(1) 10 GAACAGTCACGAGTGCCTTCT 0.348000 8 32 0 0 1 0 0 MID2 11043 broad.mit.edu 37 X 107084433 107084433 + Missense_Mutation SNP C C G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:107084433C>G ENST00000262843.6 + 2 1086 c.538C>G c.(538-540)Cgc>Ggc p.R180G MID2_ENST00000443968.2_Missense_Mutation_p.R180G NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 180 centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 CACCAGCCACCGCCTGGTGGA 0.527000 6 49 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603408 140603408 + Nonsense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr5:140603408G>T ENST00000239449.4 + 1 331 c.331G>T c.(331-333)Gaa>Taa p.E111* PCDHB14_ENST00000515856.2_Intron NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 111 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGGTTTTGGAAAACCCTTT 0.418000 43 35 3.4345e-17 5.34704e-17 1 1 0 SEMA3D 223117 broad.mit.edu 37 7 84727276 84727276 + Missense_Mutation SNP G G C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:84727276G>C ENST00000284136.6 - 2 200 c.157C>G c.(157-159)Ctg>Gtg p.L53V SEMA3D_ENST00000444867.1_Missense_Mutation_p.L53V NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 53 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 TTTGAAAGCAGCAAGTCTATG 0.373000 26 40 0 0 1 0 0 TRIM2 23321 broad.mit.edu 37 4 154197272 154197272 + Missense_Mutation SNP A A G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr4:154197272A>G ENST00000338700.5 + 3 508 c.443A>G c.(442-444)cAc>cGc p.H148R TRIM2_ENST00000437508.2_Missense_Mutation_p.H121R|TRIM2_ENST00000494872.1_3'UTR NM_015271.3 NP_056086.2 Q9C040 TRIM2_HUMAN tripartite motif containing 2 121 cytoplasm zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1) 19 all_hematologic(180;0.093) Medulloblastoma(177;0.00225) GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703) TGCCCAAACCACGATGGGAAT 0.557000 15 71 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179496014 179496014 + Nonsense_Mutation SNP A A T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:179496014A>T ENST00000589042.1 - 237 43985 c.43761T>A c.(43759-43761)taT>taA p.Y14587* TTN_ENST00000591111.1_Nonsense_Mutation_p.Y12946*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y5714*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y5522*|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y5647*|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y12019*|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12946 Fibronectin type-III 5. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCCTGTAAAATATGGGTCTC 0.353000 5 7 0 0 1 0 0 RSBN1 54665 broad.mit.edu 37 1 114354773 114354773 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:114354773G>T ENST00000261441.5 - 1 325 c.262C>A c.(262-264)Cag>Aag p.Q88K NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 88 nucleus breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GATCGGCGCTGCCGTTTAACT 0.706000 12 34 0.00136819 0.00144078 1 1 0 ANKS1B 56899 broad.mit.edu 37 12 99478745 99478745 + Silent SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr12:99478745C>A ENST00000547776.2 - 16 2582 c.2583G>T c.(2581-2583)ggG>ggT p.G861G ANKS1B_ENST00000546568.1_Silent_p.G87G|ANKS1B_ENST00000547010.1_Silent_p.G437G|ANKS1B_ENST00000550693.2_Silent_p.G87G|ANKS1B_ENST00000332712.7_Silent_p.G87G|ANKS1B_ENST00000329257.7_Silent_p.G861G|ANKS1B_ENST00000549558.2_Silent_p.G87G|ANKS1B_ENST00000547446.1_Silent_p.G56G|ANKS1B_ENST00000549025.2_Silent_p.G30G|ANKS1B_ENST00000546960.1_Silent_p.G87G|ANKS1B_ENST00000549493.2_Silent_p.G87G NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 861 SAM 1. Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TTTGTCTGTGCCCAGAATTAA 0.388000 5 12 0.0215528 0.022167 1 1 0 TMEM63C 57156 broad.mit.edu 37 14 77685892 77685892 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr14:77685892C>T ENST00000298351.4 + 4 346 c.202C>T c.(202-204)Cgc>Tgc p.R68C RP11-463C8.4_ENST00000557752.1_3'UTR NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 68 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) GGACTATGGGCGCCTGGCTCT 0.582000 25 46 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155225830 155225830 + Missense_Mutation SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr4:155225830G>A ENST00000357232.3 - 17 4230 c.4231C>T c.(4231-4233)Cac>Tac p.H1411Y NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1411 Cadherin 12. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CCAATTATGTGATATTCAACA 0.423000 7 15 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103180650 103180650 + Silent SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:103180650G>T ENST00000428762.1 - 44 7083 c.6924C>A c.(6922-6924)atC>atA p.I2308I RELN_ENST00000343529.5_Silent_p.I2308I|RELN_ENST00000424685.2_Silent_p.I2308I NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 2308 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TGACCTGATCGATAACCCAGG 0.488000 19 50 9.57634e-11 1.28007e-10 1 1 0 CMKLR1 1240 broad.mit.edu 37 12 108686241 108686241 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr12:108686241C>T ENST00000312143.7 - 3 862 c.499G>A c.(499-501)Gct>Act p.A167T CMKLR1_ENST00000412676.1_Missense_Mutation_p.A167T|CMKLR1_ENST00000550402.1_Missense_Mutation_p.A167T|CMKLR1_ENST00000552995.1_Missense_Mutation_p.A165T|CMKLR1_ENST00000397688.2_Missense_Mutation_p.A165T NM_001142344.1|NM_004072.2 NP_001135816.1|NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 167 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 AAGAAGAAAGCCAGGACCCAG 0.572000 47 59 0 0 1 0 0 GPX7 2882 broad.mit.edu 37 1 53072383 53072383 + Nonsense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:53072383G>T ENST00000361314.4 + 2 204 c.166G>T c.(166-168)Gag>Tag p.E56* GPX7_ENST00000459779.1_3'UTR NM_015696.4 NP_056511.2 Q96SL4 GPX7_HUMAN glutathione peroxidase 7 56 response to oxidative stress extracellular region glutathione peroxidase activity breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1) 7 Glutathione(DB00143) TGTGGCCAGCGAGTGCGGCTT 0.567000 13 21 2.31682e-05 2.57641e-05 1 1 0 TLL1 7092 broad.mit.edu 37 4 166963182 166963182 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr4:166963182G>T ENST00000061240.2 + 11 1912 c.1265G>T c.(1264-1266)aGa>aTa p.R422I TLL1_ENST00000507499.1_Missense_Mutation_p.R422I NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 422 CUB 1. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) CTTTTAGGTAGATTCTGTGGG 0.353000 14 19 0.000151284 0.000165911 1 1 0 RERGL 79785 broad.mit.edu 37 12 18234369 18234369 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr12:18234369C>T ENST00000229002.2 - 6 580 c.374G>A c.(373-375)cGa>cAa p.R125Q RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000536890.1_3'UTR|RERGL_ENST00000538724.1_Missense_Mutation_p.R124Q NM_024730.2 NP_079006.1 Q9H628 RERGL_HUMAN RERG/RAS-like 125 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 ACAAAGATCTCGTTTGTTGCC 0.408000 17 47 0 0 1 0 0 BMP3 651 broad.mit.edu 37 4 81952571 81952571 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr4:81952571G>T ENST00000282701.2 + 1 453 c.133G>T c.(133-135)Ggc>Tgc p.G45C NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 45 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 GGCAGGTGGTGGCCCGGACTC 0.667000 6 13 0.000442599 0.000477478 1 1 0 ALDH1A3 220 broad.mit.edu 37 15 101436218 101436218 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr15:101436218G>T ENST00000329841.5 + 7 1279 c.747G>T c.(745-747)caG>caT p.Q249H RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.Q142H NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 249 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) CTCACCCTCAGATCAACAAGA 0.547000 14 20 0.000958276 0.00103099 1 1 0 PIH1D3 139212 broad.mit.edu 37 X 106456220 106456220 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:106456220C>A ENST00000535523.1 + 3 452 c.115C>A c.(115-117)Ctt>Att p.L39I PIH1D3_ENST00000336387.4_Missense_Mutation_p.L39I|PIH1D3_ENST00000372453.3_Missense_Mutation_p.L39I NM_001169154.1 NP_001162625.1 PIH1 domain containing 3 CTCTAAGCTACTTAATCCTGA 0.363000 20 59 4.35082e-09 5.55394e-09 1 1 0 SPTLC3 55304 broad.mit.edu 37 20 13055138 13055138 + Missense_Mutation SNP T T A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr20:13055138T>A ENST00000399002.2 + 4 874 c.600T>A c.(598-600)caT>caA p.H200Q SPTLC3_ENST00000378194.4_Missense_Mutation_p.H200Q NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 200 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) GCACCAGGCATGAAATGGGTA 0.428000 7 128 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123192196 123192196 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr4:123192196C>T ENST00000264501.4 + 47 7890 c.7517C>T c.(7516-7518)cCa>cTa p.P2506L KIAA1109_ENST00000455637.1_Missense_Mutation_p.P2506L|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P2506L Q2LD37 K1109_HUMAN KIAA1109 2506 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 AATCTTCCTCCACTTGAGTTC 0.398000 19 19 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106109122 106109122 + Nonsense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:106109122C>T ENST00000357242.5 + 16 2695 c.2521C>T c.(2521-2523)Cag>Tag p.Q841* TBC1D8B_ENST00000276175.3_Nonsense_Mutation_p.Q835* NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 841 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GATTGACTGCCAGCAGTTCAG 0.418000 46 176 0 0 1 0 0 ASAH2 56624 broad.mit.edu 37 10 51974617 51974617 + Silent SNP T T C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr10:51974617T>C ENST00000395526.3 - 8 1025 c.1026A>G c.(1024-1026)gtA>gtG p.V342V ASAH2_ENST00000447815.1_Silent_p.V342V|ASAH2_ENST00000329428.6_Silent_p.V323V|ASAH2_ENST00000443575.1_Silent_p.V184V NM_019893.2 NP_063946.2 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 342 apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity large_intestine(1)|lung(9)|urinary_tract(1) 11 CAAAGGCTGCTACAAATGGCC 0.428000 9 31 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17698963 17698963 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:17698963C>A ENST00000399080.2 - 1 743 c.720G>T c.(718-720)caG>caT p.Q240H NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 240 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CCAAGCTGGGCTGGTTTTGAG 0.348000 15 33 8.60227e-14 1.26485e-13 1 1 0 REG1P 5969 broad.mit.edu 37 2 79363162 79363162 + RNA SNP T T A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:79363162T>A ENST00000444841.1 - 0 1176 CCAGGATTTGTAGGAGACCAG 0.517000 5 25 0 0 1 0 0 OR4K17 390436 broad.mit.edu 37 14 20586021 20586021 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr14:20586021C>A ENST00000315543.4 + 1 456 c.456C>A c.(454-456)gaC>gaA p.D152E NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TGGCTTTTGACAGATATGTGG 0.448000 19 38 0.000229342 0.000249448 1 1 0 SLITRK3 22865 broad.mit.edu 37 3 164907271 164907271 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr3:164907271C>T ENST00000475390.1 - 2 1791 c.1348G>A c.(1348-1350)Ggg>Agg p.G450R SLITRK3_ENST00000241274.3_Missense_Mutation_p.G450R O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 450 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 ATAAAGGCCCCATCTTGGACA 0.423000 HNSCC(40;0.11) 17 18 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84659884 84659884 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr15:84659884G>T ENST00000286744.5 + 23 4115 c.3891G>T c.(3889-3891)gaG>gaT p.E1297D ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E1297D NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1297 Ig-like C2-type 3. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) CCAAACCAGAGCACAACCATC 0.458000 113 142 4.9668e-63 9.08672e-63 1 1 0 DACH2 117154 broad.mit.edu 37 X 85769308 85769308 + Missense_Mutation SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:85769308G>A ENST00000373131.1 + 2 678 c.515G>A c.(514-516)cGt>cAt p.R172H DACH2_ENST00000373125.4_Missense_Mutation_p.R185H|DACH2_ENST00000510272.1_5'UTR|DACH2_ENST00000508860.1_Missense_Mutation_p.R18H NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding p.R185P(1)|p.R172P(1) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 CCCCCTAAGCGTTCTTTGGGA 0.438000 7 50 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91642792 91642792 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:91642792G>T ENST00000373094.1 + 5 4048 c.3203G>T c.(3202-3204)gGt>gTt p.G1068V PCDH11X_ENST00000298274.8_Missense_Mutation_p.G1031V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G1031V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G1068V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G1058V|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G1058V NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1068 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 AGCAGTGATGGTGGACTGGGA 0.527000 24 178 6.19805e-25 1.05606e-24 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77767159 77767159 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr8:77767159G>T ENST00000521891.2 + 10 8450 c.8002G>T c.(8002-8004)Gtg>Ttg p.V2668L ZFHX4_ENST00000455469.2_Missense_Mutation_p.V2623L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V2623L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.V2642L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2623 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.V2652M(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GTTCCGGGCGGTGGGTCCAGC 0.547000 HNSCC(33;0.089) 9 75 0.010729 0.0110634 1 1 0 KLHL4 56062 broad.mit.edu 37 X 86880772 86880772 + Missense_Mutation SNP G G C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:86880772G>C ENST00000373119.4 + 6 1445 c.1300G>C c.(1300-1302)Gta>Cta p.V434L KLHL4_ENST00000373114.4_Missense_Mutation_p.V434L NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 434 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 ACTTTATGCTGTAGGAGGCAT 0.388000 10 68 0 0 1 0 0 FOXN4 121643 broad.mit.edu 37 12 109724502 109724502 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr12:109724502G>T ENST00000299162.5 - 7 748 c.644C>A c.(643-645)cCt>cAt p.P215H FOXN4_ENST00000355216.1_Missense_Mutation_p.P35H NM_213596.2 NP_998761.2 Q96NZ1 FOXN4_HUMAN forkhead box N4 215 axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(5)|lung(9)|ovary(2) 16 CTCGCTCACAGGCAGGCTGCC 0.627000 6 18 0.000157383 0.000171652 1 1 0 GAB2 9846 broad.mit.edu 37 11 77931390 77931390 + Missense_Mutation SNP G G T rs142455789 TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:77931390G>T ENST00000361507.4 - 9 1947 c.1862C>A c.(1861-1863)cCg>cAg p.P621Q GAB2_ENST00000340149.2_Missense_Mutation_p.P583Q NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 621 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) TGGGGAGCTCGGCTGGAAGTC 0.622000 27 44 1.13719e-10 1.50992e-10 1 1 0 NBPF1 55672 broad.mit.edu 37 1 16918374 16918374 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:16918374G>T ENST00000430580.2 - 7 1030 c.143C>A c.(142-144)gCc>gAc p.A48D NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 48 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CAGGAAGCCGGCCAGTTGAGT 0.433000 20 818 1.96895e-08 2.45809e-08 1 1 0 KCNC1 3746 broad.mit.edu 37 11 17793274 17793274 + Silent SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:17793274C>A ENST00000379472.3 + 2 663 c.633C>A c.(631-633)acC>acA p.T211T KCNC1_ENST00000265969.6_Silent_p.T211T NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 211 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 GCCTGGAGACCCACGAGCGCT 0.587000 16 33 1.3612e-06 1.59881e-06 1 1 0 KCNJ5 3762 broad.mit.edu 37 11 128781289 128781289 + Missense_Mutation SNP C C T rs115012103 byFrequency TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:128781289C>T ENST00000529694.1 + 2 497 c.121C>T c.(121-123)Cgc>Tgc p.R41C KCNJ5_ENST00000338350.4_Missense_Mutation_p.R41C|KCNJ5_ENST00000533599.1_Missense_Mutation_p.R41C NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 41 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) AGACCGTACGCGCCTGCTGGC 0.592000 23 82 0 0 1 0 0 KLHL34 257240 broad.mit.edu 37 X 21674057 21674057 + Missense_Mutation SNP C C A rs146464429 byFrequency TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:21674057C>A ENST00000379499.2 - 1 2391 c.1850G>T c.(1849-1851)cGg>cTg p.R617L NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 617 cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 CACTGCGCACCGCAGGCCGCT 0.677000 17 11 5.35267e-07 6.38141e-07 1 1 0 DCBLD1 285761 broad.mit.edu 37 6 117824985 117824985 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr6:117824985G>T ENST00000338728.5 + 2 288 c.168G>T c.(166-168)aaG>aaT p.K56N DCBLD1_ENST00000368503.4_Missense_Mutation_p.K56N|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.K56N Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 56 CUB. cell adhesion integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) TGACATCTAAGAATTATCCCG 0.438000 36 62 2.37825e-27 4.12299e-27 1 1 0 CCDC115 84317 broad.mit.edu 37 2 131096756 131096756 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:131096756C>A ENST00000259229.2 - 5 703 c.480G>T c.(478-480)tgG>tgT p.W160C CCDC115_ENST00000437688.2_3'UTR|CCDC115_ENST00000409127.1_Missense_Mutation_p.W155C NM_032357.2 NP_115733.2 Q96NT0 CC115_HUMAN coiled-coil domain containing 115 160 endosome|lysosome central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 7 Colorectal(110;0.1) GGCTTCGACCCCAGTCAATGC 0.602000 11 30 9.31168e-06 1.05924e-05 1 1 0 MYO15A 51168 broad.mit.edu 37 17 18052078 18052078 + Silent SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr17:18052078G>A ENST00000205890.5 + 33 7106 c.6768G>A c.(6766-6768)ggG>ggA p.G2256G NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2256 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TCACCAGGGGGCTGGCAGATG 0.582000 4 7 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36779279 36779279 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr3:36779279C>A ENST00000416516.2 - 2 1362 c.872G>T c.(871-873)cGa>cTa p.R291L NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 291 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 CTCTTCTCCTCGGGTCCTGCG 0.552000 26 53 5.60225e-13 7.94319e-13 1 1 0 SLC5A6 8884 broad.mit.edu 37 2 27430475 27430475 + Missense_Mutation SNP G G C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:27430475G>C ENST00000310574.3 - 3 517 c.44C>G c.(43-45)tCg>tGg p.S15W SLC5A6_ENST00000408041.1_Missense_Mutation_p.S15W NM_021095.2 NP_066918.2 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 15 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) GCTTGTGCCCGAGGTTGGGGA 0.567000 17 36 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32820195 32820195 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:32820195G>T ENST00000421745.2 + 68 13730 c.13596G>T c.(13594-13596)atG>atT p.M4532I NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4532 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TGGCTGTTATGAAGAAATTAC 0.308000 5 17 0.184627 0.186506 1 1 0 OR4C16 219428 broad.mit.edu 37 11 55339753 55339753 + Missense_Mutation SNP C C G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:55339753C>G ENST00000314634.3 + 1 150 c.150C>G c.(148-150)agC>agG p.S50R NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) TCAAGACCAGCCAGGCACTTA 0.388000 25 77 0 0 1 0 0 PDSS1 23590 broad.mit.edu 37 10 27031431 27031431 + Nonsense_Mutation SNP A A T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr10:27031431A>T ENST00000376203.5 + 9 887 c.841A>T c.(841-843)Aga>Tga p.R281* PDSS1_ENST00000376215.5_Silent_p.P344P|PDSS1_ENST00000470978.1_3'UTR Q5T2R2 DPS1_HUMAN prenyl (decaprenyl) diphosphate synthase, subunit 1 0 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion metal ion binding|protein heterodimerization activity autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1) 21 GTTAGTTCCCAGAAATGAATG 0.343000 11 15 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49669765 49669765 + Missense_Mutation SNP C C G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr16:49669765C>G ENST00000561648.1 - 4 3351 c.3298G>C c.(3298-3300)Gcc>Ccc p.A1100P ZNF423_ENST00000562871.1_Missense_Mutation_p.A1040P|ZNF423_ENST00000567169.1_Missense_Mutation_p.A983P|ZNF423_ENST00000562520.1_Missense_Mutation_p.A1040P|ZNF423_ENST00000262383.2_Missense_Mutation_p.A1100P|ZNF423_ENST00000563137.2_Missense_Mutation_p.A1040P|ZNF423_ENST00000535559.1_Missense_Mutation_p.A983P NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1100 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) TGTCCGTTGGCGCTGCGGGCC 0.697000 13 24 0 0 1 0 0 INTS7 25896 broad.mit.edu 37 1 212156079 212156079 + Missense_Mutation SNP C C G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:212156079C>G ENST00000366994.3 - 9 1175 c.1071G>C c.(1069-1071)agG>agC p.R357S INTS7_ENST00000440600.2_Missense_Mutation_p.R308S|INTS7_ENST00000366993.3_Missense_Mutation_p.R357S|INTS7_ENST00000366992.3_Missense_Mutation_p.R357S|INTS7_ENST00000469606.1_5'UTR NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 357 snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) CTGCAATGCCCCTGTTATTAT 0.368000 21 80 0 0 1 0 0 TESPA1 9840 broad.mit.edu 37 12 55356838 55356838 + Missense_Mutation SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr12:55356838G>A ENST00000524622.1 - 7 1091 c.430C>T c.(430-432)Cgc>Tgc p.R144C TESPA1_ENST00000532804.1_Missense_Mutation_p.R144C|TESPA1_ENST00000449076.1_Missense_Mutation_p.R282C|TESPA1_ENST00000316577.8_Missense_Mutation_p.R282C|TESPA1_ENST00000531122.1_Missense_Mutation_p.R144C NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 282 TTCCGAAGGCGGTCTCTGGGT 0.552000 8 40 0 0 1 0 0 ZMYND15 84225 broad.mit.edu 37 17 4647142 4647142 + Splice_Site SNP G G C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr17:4647142G>C ENST00000433935.1 + 7 1435 c.1378_splice c.e7+1 p.G460_splice ZMYND15_ENST00000573751.2_Splice_Site_p.G460_splice|ZMYND15_ENST00000592813.1_Splice_Site_p.V460_splice|ZMYND15_ENST00000269289.6_Splice_Site_p.V460_splice NM_001136046.2|NM_001267822.1 NP_001129518.1|NP_001254751.1 Q9H091 ZMY15_HUMAN zinc finger, MYND-type containing 15 459 zinc ion binding endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2) 18 GGGTGTTTTTGGTGAGCTGGA 0.607000 6 13 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110827016 110827016 + Silent SNP T T A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr13:110827016T>A ENST00000375820.4 - 38 3400 c.3279A>T c.(3277-3279)ccA>ccT p.P1093P NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1093 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CTGGGGACCCTGGCATTCCTG 0.532000 25 46 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40060895 40060895 + Missense_Mutation SNP T T A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr22:40060895T>A ENST00000336649.4 + 24 3836 c.3836T>A c.(3835-3837)gTc>gAc p.V1279D CACNA1I_ENST00000402142.3_Missense_Mutation_p.V1273D|CACNA1I_ENST00000400164.3_Missense_Mutation_p.V1238D|CACNA1I_ENST00000407673.1_Missense_Mutation_p.V1238D|CACNA1I_ENST00000401624.1_Missense_Mutation_p.V1273D|CACNA1I_ENST00000404898.1_Missense_Mutation_p.V1238D Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1273 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GTCCTCCGAGTCTTGCGGCTC 0.627000 21 30 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86089618 86089618 + Missense_Mutation SNP A A T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr14:86089618A>T ENST00000330753.4 + 2 2527 c.1760A>T c.(1759-1761)gAt>gTt p.D587V FLRT2_ENST00000554746.1_Missense_Mutation_p.D587V NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 587 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) CGGAAAGATGATTATTGCGAG 0.498000 25 63 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111671538 111671538 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr3:111671538G>T ENST00000431670.2 + 11 3162 c.2751G>T c.(2749-2751)atG>atT p.M917I PHLDB2_ENST00000412622.1_Missense_Mutation_p.M874I|PHLDB2_ENST00000393923.3_Missense_Mutation_p.M901I|PHLDB2_ENST00000481953.1_Missense_Mutation_p.M874I|PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000393925.3_Missense_Mutation_p.M917I NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 917 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GTGCTACTATGGGGAGAAGCA 0.448000 23 43 1.75199e-13 2.53846e-13 1 1 0 RIN2 54453 broad.mit.edu 37 20 19956407 19956407 + Missense_Mutation SNP T T G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr20:19956407T>G ENST00000255006.6 + 8 2034 c.1885T>G c.(1885-1887)Tcg>Gcg p.S629A RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 580 VPS9. endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 CCCCATCGAGTCGCTGATCCC 0.473000 3 9 0 0 1 0 0 PARP12 64761 broad.mit.edu 37 7 139741443 139741443 + Splice_Site SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:139741443C>A ENST00000263549.3 - 6 2056 c.e6+1 PARP12_ENST00000470515.1_Splice_Site NM_022750.2 NP_073587.1 Q9H0J9 PAR12_HUMAN poly (ADP-ribose) polymerase family, member 12 nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) ATCACACTTACCTGTCTTCCA 0.488000 31 127 7.11191e-15 1.07764e-14 1 1 0 SLFN5 162394 broad.mit.edu 37 17 33586242 33586242 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr17:33586242G>T ENST00000299977.4 + 2 681 c.533G>T c.(532-534)aGa>aTa p.R178I SLFN5_ENST00000592325.1_Missense_Mutation_p.R178I|SLFN5_ENST00000542451.1_Missense_Mutation_p.R178I NM_144975.3 NP_659412.3 Q08AF3 SLFN5_HUMAN schlafen family member 5 178 cell differentiation ATP binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) TTATTTGATAGAAAGCGGCTT 0.398000 52 30 3.4597e-24 5.84469e-24 1 1 0 KIAA1244 57221 broad.mit.edu 37 6 138584561 138584561 + Missense_Mutation SNP C C G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr6:138584561C>G ENST00000251691.4 + 12 2107 c.1941C>G c.(1939-1941)tgC>tgG p.C647W NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 647 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CCCGGGACTGCCTAGGCCACC 0.592000 43 74 0 0 1 0 0 ZNF680 340252 broad.mit.edu 37 7 63981936 63981936 + Missense_Mutation SNP A A T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:63981936A>T ENST00000309683.6 - 4 1347 c.1196T>A c.(1195-1197)aTt>aAt p.I399N NM_178558.4 NP_848653.2 Q8NEM1 ZN680_HUMAN zinc finger protein 680 399 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 27 Lung NSC(55;0.118)|all_lung(88;0.243) TCCAGTATGAATTCTCATATG 0.378000 10 45 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23913291 23913291 + Missense_Mutation SNP C C G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr13:23913291C>G ENST00000382298.3 - 10 5312 c.4724G>C c.(4723-4725)cGg>cCg p.R1575P SACS_ENST00000402364.1_Missense_Mutation_p.R825P|SACS_ENST00000382292.3_Missense_Mutation_p.R1575P NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1575 R -> P (in SACS). 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) CATGAATTCCCGACTCATAAT 0.338000 20 34 0 0 1 0 0 KCNK2 3776 broad.mit.edu 37 1 215256771 215256771 + Nonsense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:215256771G>T ENST00000444842.2 + 1 193 c.43G>T c.(43-45)Gga>Tga p.G15* KCNK2_ENST00000391895.2_Intron|KCNK2_ENST00000391894.2_Intron NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 15 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) CTATAGAGCAGGAGGTGAGAC 0.577000 11 81 0.00185496 0.0019482 1 1 0 CNTN1 1272 broad.mit.edu 37 12 41323600 41323600 + Missense_Mutation SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr12:41323600G>A ENST00000551295.2 + 7 616 c.499G>A c.(499-501)Gat>Aat p.D167N CNTN1_ENST00000547849.1_Missense_Mutation_p.D167N|CNTN1_ENST00000347616.1_Missense_Mutation_p.D167N|CNTN1_ENST00000547702.1_Missense_Mutation_p.D167N|CNTN1_ENST00000348761.2_Missense_Mutation_p.D156N|CNTN1_ENST00000360099.3_Missense_Mutation_p.D167N NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 167 Ig-like C2-type 2. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TCTCCTAGATGATCTTAGCTA 0.333000 11 24 0 0 1 0 0 LIMK1 3984 broad.mit.edu 37 7 73520557 73520557 + Silent SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:73520557C>A ENST00000418310.1 + 7 1057 c.955C>A c.(955-957)Cgg>Agg p.R319R LIMK1_ENST00000538333.3_Silent_p.R255R|LIMK1_ENST00000336180.2_Silent_p.R289R P53667 LIMK1_HUMAN LIM domain kinase 1 289 actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) CAGCTCTGCCCGGCAGAAACC 0.657000 8 174 0.000442599 0.000477478 1 1 0 COL11A1 1301 broad.mit.edu 37 1 103348760 103348760 + Nonsense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:103348760C>A ENST00000358392.2 - 64 5319 c.5002G>T c.(5002-5004)Gag>Tag p.E1668* COL11A1_ENST00000370096.3_Nonsense_Mutation_p.E1656*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.E1617*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.E1540* NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1656 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTTACTCCCTCAGATTTTTTG 0.368000 14 55 2.61681e-11 3.54565e-11 1 1 0 SSPO 23145 broad.mit.edu 37 7 149477086 149477086 + RNA SNP C C G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:149477086C>G ENST00000378016.2 + 0 1263 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GTCTCTTTGCCTACTGCGCAG 0.632000 5 17 0 0 1 0 0 WNT11 7481 broad.mit.edu 37 11 75907590 75907590 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:75907590C>T ENST00000322563.3 - 2 380 c.256G>A c.(256-258)Gac>Aac p.D86N NM_004626.2 NP_004617.2 O96014 WNT11_HUMAN wingless-type MMTV integration site family, member 11 86 adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 CAGCGCATGTCGGCAAAGGCC 0.632000 21 152 0 0 1 0 0 CLK4 57396 broad.mit.edu 37 5 178040495 178040495 + Missense_Mutation SNP G G C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr5:178040495G>C ENST00000316308.4 - 7 973 c.805C>G c.(805-807)Cag>Gag p.Q269E NM_020666.2 NP_065717.1 Q9HAZ1 CLK4_HUMAN CDC-like kinase 4 269 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2) 21 all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918) all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.235) TGGCAGATCTGATACGCCATC 0.333000 20 2 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204242843 204242843 + Missense_Mutation SNP T T C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:204242843T>C ENST00000272203.3 - 3 329 c.13A>G c.(13-15)Aca>Gca p.T5A PLEKHA6_ENST00000414478.1_Missense_Mutation_p.T5A NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 5 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) TTCCCACCTGTTTTATTGGAC 0.522000 13 54 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82474784 82474784 + Missense_Mutation SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:82474784G>A ENST00000423517.2 - 13 14186 c.13849C>T c.(13849-13851)Cca>Tca p.P4617S PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.P4617S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4505 C2 1. 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 TCAACCCCTGGGGATTTCGCC 0.423000 3 12 0 0 1 0 0 MRAP2 112609 broad.mit.edu 37 6 84765088 84765088 + Silent SNP T T A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr6:84765088T>A ENST00000257776.4 + 2 186 c.51T>A c.(49-51)tcT>tcA p.S17S NM_138409.2 NP_612418.2 Q96G30 MRAP2_HUMAN melanocortin 2 receptor accessory protein 2 17 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 19 AATCGGCATCTAATTCTGATT 0.403000 13 42 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65145914 65145914 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr4:65145914C>A ENST00000381210.3 - 12 1078 c.968G>T c.(967-969)gGa>gTa p.G323V TECRL_ENST00000507440.1_Intron NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 323 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 TGTAAAAATTCCAACTAGAAG 0.264000 6 12 0.0381472 0.0390321 1 1 0 KIAA1211 57482 broad.mit.edu 37 4 57181772 57181772 + Silent SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr4:57181772C>A ENST00000504228.1 + 6 2209 c.2104C>A c.(2104-2106)Cgg>Agg p.R702R KIAA1211_ENST00000264229.6_Silent_p.R702R|KIAA1211_ENST00000541073.1_Silent_p.R695R Q6ZU35 K1211_HUMAN KIAA1211 702 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) TCCCAGGGGCCGGTGTGATTC 0.587000 23 45 4.7796e-09 6.06231e-09 1 1 0 LOC645752 645752 broad.mit.edu 37 15 78208916 78208916 + RNA SNP C C G rs56290535 by1000genomes TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr15:78208916C>G ENST00000565869.1 + 0 53 TCCAGATGTTCTCCTCCATCT 0.627000 3 65 0 0 1 0 0 TMEM214 54867 broad.mit.edu 37 2 27258027 27258027 + Nonsense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:27258027G>T ENST00000238788.9 + 3 438 c.376G>T c.(376-378)Gaa>Taa p.E126* TMEM214_ENST00000404032.3_Nonsense_Mutation_p.E126* NM_017727.4 NP_060197.4 Q6NUQ4 TM214_HUMAN transmembrane protein 214 126 integral to membrane protein binding kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 CCTGCAGAAGGAACTGGACAA 0.542000 3 37 0.115264 0.116734 1 1 0 VWC2L 402117 broad.mit.edu 37 2 215279078 215279078 + Missense_Mutation SNP T T A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:215279078T>A ENST00000312504.5 + 2 963 c.161T>A c.(160-162)gTc>gAc p.V54D AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.V54D NM_001080500.2 NP_001073969.1 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain containing protein 2-like 54 VWFC 1. extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1) 16 AAAGGGTGTGTCGATGACAGC 0.468000 6 23 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33527434 33527434 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr5:33527434G>T ENST00000504830.1 - 24 4979 c.4644C>A c.(4642-4644)ttC>ttA p.F1548L ADAMTS12_ENST00000352040.3_Missense_Mutation_p.F1463L NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1548 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GTGTCTGGCAGAAACTGGCTG 0.453000 HNSCC(64;0.19) 7 45 0.00307968 0.00321745 1 1 0 ACSL6 23305 broad.mit.edu 37 5 131303681 131303681 + Silent SNP G G A rs144740812 TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr5:131303681G>A ENST00000379264.2 - 16 1656 c.1548C>T c.(1546-1548)ctC>ctT p.L516L ACSL6_ENST00000543479.1_Silent_p.L491L|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000357096.1_Silent_p.L416L|ACSL6_ENST00000379246.1_Silent_p.L502L|ACSL6_ENST00000379272.2_Silent_p.L506L|ACSL6_ENST00000544770.1_Silent_p.L400L|ACSL6_ENST00000296869.4_Silent_p.L516L|ACSL6_ENST00000379240.1_Silent_p.L491L|ACSL6_ENST00000379249.3_Silent_p.L491L|ACSL6_ENST00000379244.1_Silent_p.L491L|ACSL6_ENST00000379255.1_Silent_p.L416L|ACSL6_ENST00000431707.1_Silent_p.L471L NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 491 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity p.L516L(1) NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAACATCAACGAGCTTGATAT 0.483000 34 35 0 0 1 0 0 EXD3 54932 broad.mit.edu 37 9 140242555 140242555 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr9:140242555C>A ENST00000340951.4 - 17 2161 c.1966G>T c.(1966-1968)Ggc>Tgc p.G656C EXD3_ENST00000342129.4_Missense_Mutation_p.G307C NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 656 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 TCACCATTGCCCAGCATGCGT 0.662000 5 28 8.12818e-05 8.96358e-05 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168106147 168106147 + Missense_Mutation SNP C C G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:168106147C>G ENST00000409195.1 + 9 8334 c.8245C>G c.(8245-8247)Ctg>Gtg p.L2749V XIRP2_ENST00000409273.1_Missense_Mutation_p.L2527V|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L2749V NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2574 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAAACAATATCTGAAAACCAA 0.353000 6 35 0 0 1 0 0 TPBG 7162 broad.mit.edu 37 6 83075380 83075380 + Silent SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr6:83075380C>T ENST00000369750.3 + 2 1319 c.702C>T c.(700-702)ccC>ccT p.P234P TPBG_ENST00000535040.1_Silent_p.P234P|TPBG_ENST00000543496.1_Silent_p.P234P Q13641 TPBG_HUMAN trophoblast glycoprotein 234 cell adhesion integral to plasma membrane p.P234P(1) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) CCCAACTGCCCAGCCTCAGGC 0.622000 17 74 0 0 1 0 0 ITGB5 3693 broad.mit.edu 37 3 124540252 124540252 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr3:124540252C>A ENST00000296181.4 - 6 1146 c.850G>T c.(850-852)Gca>Tca p.A284S ITGB5_ENST00000488466.1_Intron NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 284 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) CCATCCAATGCGATGTGGGGC 0.547000 35 61 1.30998e-17 2.04749e-17 1 1 0 EWSR1 2130 broad.mit.edu 37 22 29678498 29678498 + Missense_Mutation SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr22:29678498G>A ENST00000397938.2 + 6 852 c.533G>A c.(532-534)aGc>aAc p.S178N EWSR1_ENST00000333395.6_Missense_Mutation_p.S178N|EWSR1_ENST00000414183.2_Missense_Mutation_p.S184N|EWSR1_ENST00000406548.1_Missense_Mutation_p.S178N|EWSR1_ENST00000332035.6_Intron|EWSR1_ENST00000331029.7_Missense_Mutation_p.S178N|EWSR1_ENST00000332050.6_Missense_Mutation_p.S178N NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 178 31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GTACCTGGGAGCTACCCCATG 0.493000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 3 38 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56815713 56815713 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr12:56815713C>A ENST00000229201.4 - 21 2763 c.2609G>T c.(2608-2610)gGa>gTa p.G870V TIMELESS_ENST00000554616.1_Missense_Mutation_p.G368V|TIMELESS_ENST00000553532.1_Missense_Mutation_p.G871V NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 871 M -> V. cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 GTCAGCCAGTCCCATCTGTAC 0.552000 34 82 7.63091e-17 1.17421e-16 1 1 0 AHNAK 79026 broad.mit.edu 37 11 62292059 62292059 + Missense_Mutation SNP T T C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:62292059T>C ENST00000378024.4 - 5 10104 c.9830A>G c.(9829-9831)aAa>aGa p.K3277R AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3277 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTTTGGACCTTTTAATTTGGC 0.413000 4 98 0 0 1 0 0 SPINT4 391253 broad.mit.edu 37 20 44352662 44352662 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr20:44352662C>A ENST00000279058.3 + 2 276 c.259C>A c.(259-261)Cgt>Agt p.R87S NM_178455.1 NP_848550.1 Q6UDR6 SPIT4_HUMAN serine peptidase inhibitor, Kunitz type 4 87 BPTI/Kunitz inhibitor. extracellular region serine-type endopeptidase inhibitor activity lung(6)|ovary(1)|skin(1) 8 Myeloproliferative disorder(115;0.028) TAAAATAGAACGTGAAGTAGC 0.393000 35 54 6.5261e-18 1.02406e-17 1 1 0 ACSM2A 123876 broad.mit.edu 37 16 20482929 20482929 + Missense_Mutation SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr16:20482929G>A ENST00000573854.1 + 6 926 c.812G>A c.(811-813)tGc>tAc p.C271Y ACSM2A_ENST00000536134.1_Missense_Mutation_p.C43Y|ACSM2A_ENST00000575690.1_Missense_Mutation_p.C271Y|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.C192Y|ACSM2A_ENST00000396104.2_Missense_Mutation_p.C271Y|ACSM2A_ENST00000219054.6_Missense_Mutation_p.C271Y NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 271 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 AACATCTTGTGCTCACTTATG 0.428000 92 120 0 0 1 0 0 GPER1 2852 broad.mit.edu 37 7 1131434 1131434 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:1131434C>T ENST00000397092.1 + 3 954 c.70C>T c.(70-72)Ccc>Tcc p.P24S C7orf50_ENST00000397098.3_Intron|GPER_ENST00000297469.3_Missense_Mutation_p.P24S|GPER_ENST00000397088.3_Missense_Mutation_p.P24S|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397100.2_Intron|GPER_ENST00000401670.1_Missense_Mutation_p.P24S NM_001039966.1 NP_001035055.1 Q99527 GPER_HUMAN 24 endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 13 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16) GCCTGCGGCCCCCAACACCAC 0.652000 12 42 0 0 1 0 0 OR5D14 219436 broad.mit.edu 37 11 55563382 55563382 + Silent SNP G G C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:55563382G>C ENST00000335605.1 + 1 351 c.351G>C c.(349-351)ctG>ctC p.L117L NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) CTTTCTTGCTGGCAGTGATGG 0.502000 14 16 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 32949109 32949109 + Missense_Mutation SNP T T C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr12:32949109T>C ENST00000340811.4 - 11 2399 c.2291A>G c.(2290-2292)cAg>cGg p.Q764R PKP2_ENST00000070846.6_Missense_Mutation_p.Q808R NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 808 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) GCGTGCATTCTGGTAACTGTT 0.488000 18 102 0 0 1 0 0 MAPK14 1432 broad.mit.edu 37 6 36040673 36040673 + Missense_Mutation SNP G G C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr6:36040673G>C ENST00000229795.3 + 4 776 c.329G>C c.(328-330)gGg>gCg p.G110A MAPK14_ENST00000229794.4_Missense_Mutation_p.G110A|MAPK14_ENST00000468133.1_Missense_Mutation_p.G33A|MAPK14_ENST00000310795.4_Missense_Mutation_p.G110A NM_001315.2 NP_001306.1 Q16539 MK14_HUMAN mitogen-activated protein kinase 14 110 Protein kinase. activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1) 16 CATCTCATGGGGGCAGATCTG 0.368000 8 29 0 0 1 0 0 NCAPH 23397 broad.mit.edu 37 2 97031718 97031718 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:97031718G>T ENST00000455200.1 + 14 2065 c.1770G>T c.(1768-1770)caG>caT p.Q590H NCAPH_ENST00000240423.4_Missense_Mutation_p.Q601H|NCAPH_ENST00000427946.1_Missense_Mutation_p.Q465H Q15003 CND2_HUMAN non-SMC condensin I complex, subunit H 601 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(717;0.0221) CAGCACAACAGAATGGTGACA 0.468000 19 115 1.50039e-11 2.04692e-11 1 1 0 GNL3L 54552 broad.mit.edu 37 X 54578128 54578128 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:54578128C>A ENST00000336470.4 + 11 1130 c.991C>A c.(991-993)Cct>Act p.P331T GNL3L_ENST00000360845.2_Missense_Mutation_p.P331T NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 331 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 GCTGGCAGACCCTGTGACCCC 0.622000 10 20 0.00136819 0.00144078 1 1 0 HIVEP2 3097 broad.mit.edu 37 6 143093732 143093732 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr6:143093732C>A ENST00000367603.2 - 5 2886 c.2144G>T c.(2143-2145)aGc>aTc p.S715I HIVEP2_ENST00000367604.1_Missense_Mutation_p.S715I|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S715I NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 715 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GCTTACAATGCTGCTGCAGAT 0.522000 18 83 2.4624e-09 3.16366e-09 1 1 0 SCG2 7857 broad.mit.edu 37 2 224463548 224463548 + Silent SNP A A G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:224463548A>G ENST00000305409.2 - 2 685 c.453T>C c.(451-453)taT>taC p.Y151Y NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 151 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) GCTGTGTCTCATAATCATCAC 0.413000 46 67 0 0 1 0 0 GALNT6 11226 broad.mit.edu 37 12 51749619 51749619 + Missense_Mutation SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr12:51749619G>A ENST00000543196.2 - 10 1931 c.1726C>T c.(1726-1728)Ccc>Tcc p.P576S GALNT6_ENST00000356317.3_Missense_Mutation_p.P576S Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 576 Ricin B-type lectin. protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TCGTCCTTGGGGACCTGGCTA 0.557000 8 35 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 105025751 105025751 + Silent SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr8:105025751C>A ENST00000507740.1 + 16 2804 c.2568C>A c.(2566-2568)acC>acA p.T856T RIMS2_ENST00000262231.10_Silent_p.T881T|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Silent_p.T1042T NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1104 C2 1. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GGACCACCACCCGCTCCAGAT 0.498000 HNSCC(12;0.0054) 23 25 4.72057e-08 5.76636e-08 1 1 0 WSCD2 9671 broad.mit.edu 37 12 108589747 108589747 + Silent SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr12:108589747G>T ENST00000332082.4 + 3 956 c.138G>T c.(136-138)tcG>tcT p.S46S WSCD2_ENST00000549903.1_Silent_p.S46S|WSCD2_ENST00000547525.1_Silent_p.S46S|WSCD2_ENST00000261400.3_Silent_p.S46S Q2TBF2 WSCD2_HUMAN WSC domain containing 2 46 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 CCGCTGTCTCGGGGAACCAGG 0.617000 69 96 3.58576e-35 6.38362e-35 1 1 0 ITGB8 3696 broad.mit.edu 37 7 20449323 20449323 + Missense_Mutation SNP C C G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:20449323C>G ENST00000222573.3 + 13 2793 c.2109C>G c.(2107-2109)atC>atG p.I703M ITGB8_ENST00000537992.1_Missense_Mutation_p.I568M NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 703 cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 AAGTCCTGATCATTAGACAGG 0.333000 19 73 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53085023 53085023 + Nonsense_Mutation SNP A A T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr8:53085023A>T ENST00000276480.7 - 10 1081 c.398T>A c.(397-399)tTg>tAg p.L133* NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 133 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AAATTTCCCCAAGTGCATTAA 0.383000 22 22 0 0 1 0 0 TMEM45A 55076 broad.mit.edu 37 3 100277279 100277279 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr3:100277279G>T ENST00000403410.1 + 6 1102 c.482G>T c.(481-483)cGg>cTg p.R161L TMEM45A_ENST00000323523.4_Missense_Mutation_p.R145L Q9NWC5 TM45A_HUMAN transmembrane protein 45A 145 integral to membrane breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2) 11 ACTCATGGCCGGGAAATGCTG 0.483000 6 88 0.00198382 0.00207804 1 1 0 GFRAL 389400 broad.mit.edu 37 6 55223787 55223787 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr6:55223787C>T ENST00000340465.2 + 6 889 c.803C>T c.(802-804)aCt>aTt p.T268I NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 268 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CAGGACCTCACTTGTTCAGGA 0.438000 31 60 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108363053 108363053 + Missense_Mutation SNP A A G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr3:108363053A>G ENST00000361582.3 + 14 1414 c.1184A>G c.(1183-1185)cAt>cGt p.H395R DZIP3_ENST00000463306.1_Missense_Mutation_p.H395R NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 395 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 TATTTCTATCATCTGCTTCAT 0.308000 6 24 0 0 1 0 0 DDX24 57062 broad.mit.edu 37 14 94527356 94527356 + Silent SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr14:94527356G>A ENST00000330836.5 - 4 1431 c.1300C>T c.(1300-1302)Ctg>Ttg p.L434L DDX24_ENST00000544005.1_Silent_p.L184L|DDX24_ENST00000555054.1_Silent_p.L391L NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 434 Helicase ATP-binding. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CGACGGTTCAGCATCCTCTGC 0.448000 21 51 0 0 1 0 0 ZNF530 348327 broad.mit.edu 37 19 58118185 58118185 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr19:58118185G>T ENST00000332854.6 + 3 1512 c.1292G>T c.(1291-1293)gGa>gTa p.G431V ZNF530_ENST00000597864.1_Intron NM_020880.3 NP_065931.3 Q6P9A1 ZN530_HUMAN zinc finger protein 530 431 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GTTCACACTGGAGAAAGGCCT 0.433000 29 54 4.74835e-14 7.03394e-14 1 1 0 GALNT3 2591 broad.mit.edu 37 2 166621499 166621499 + Missense_Mutation SNP T T C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:166621499T>C ENST00000392701.3 - 3 1358 c.583A>G c.(583-585)Aat>Gat p.N195D NM_004482.3 NP_004473.2 Q14435 GALT3_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) 195 Catalytic subdomain A. protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1) 20 CACGCTTCATTATGAAAAACT 0.413000 10 45 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027156 37027156 + Missense_Mutation SNP C C G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:37027156C>G ENST00000358047.3 + 1 725 c.673C>G c.(673-675)Cag>Gag p.Q225E NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 225 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TCTCCGCCCACAGCCTCCCAA 0.647000 4 95 0 0 1 0 0 RB1CC1 9821 broad.mit.edu 37 8 53547495 53547495 + Silent SNP A A G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr8:53547495A>G ENST00000025008.5 - 20 4949 c.4426T>C c.(4426-4428)Tta>Cta p.L1476L RB1CC1_ENST00000435644.2_Silent_p.L1476L|RB1CC1_ENST00000539297.1_Silent_p.L1476L|RB1CC1_ENST00000521611.1_Intron NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 1476 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) CTTTGATTTAACCGTTTATTT 0.303000 6 18 0 0 1 0 0 OR10A2 341276 broad.mit.edu 37 11 6891885 6891885 + Silent SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:6891885C>T ENST00000307322.4 + 1 962 c.900C>T c.(898-900)aaC>aaT p.N300N NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 300 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CCCTCAGAAACTGTATCCCAT 0.453000 10 33 0 0 1 0 0 AREL1 9870 broad.mit.edu 37 14 75134250 75134250 + Silent SNP C C G rs139207671 by1000genomes TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr14:75134250C>G ENST00000356357.4 - 16 2477 c.1962G>C c.(1960-1962)gcG>gcC p.A654A AREL1_ENST00000557401.1_5'UTR NM_001039479.1 NP_001034568.1 apoptosis resistant E3 ubiquitin protein ligase 1 AGATTTTATTCGCATTGGTGA 0.448000 14 23 0 0 1 0 0 CHRM5 1133 broad.mit.edu 37 15 34355468 34355468 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr15:34355468C>A ENST00000383263.5 + 3 1220 c.550C>A c.(550-552)Cag>Aag p.Q184K CHRM5_ENST00000557872.1_Missense_Mutation_p.Q184K NM_012125.3 NP_036257.1 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 184 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) GGATGAGTGCCAGATCCAGTT 0.532000 15 115 0.00498961 0.00518554 1 1 0 GABRA3 2556 broad.mit.edu 37 X 151533000 151533000 + Missense_Mutation SNP C C G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:151533000C>G ENST00000370314.4 - 2 281 c.43G>C c.(43-45)Ggg>Cgg p.G15R GABRA3_ENST00000370311.1_Missense_Mutation_p.G15R|GABRA3_ENST00000535043.1_Missense_Mutation_p.G15R NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 15 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AAAAGAATCCCAAGGCTGGTC 0.448000 20 77 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74623070 74623070 + Missense_Mutation SNP A A C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr15:74623070A>C ENST00000321288.5 + 15 2132 c.2132A>C c.(2131-2133)cAt>cCt p.H711P CCDC33_ENST00000558821.1_Missense_Mutation_p.H101P|CCDC33_ENST00000398814.3_Missense_Mutation_p.H508P|CCDC33_ENST00000268082.4_Missense_Mutation_p.H101P Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 711 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 AGGGTGCAGCATTTGCAGAAT 0.577000 10 67 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112605160 112605160 + Silent SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr12:112605160C>A ENST00000550722.1 - 72 12452 c.12057G>T c.(12055-12057)gcG>gcT p.A4019A HECTD4_ENST00000430131.2_Silent_p.A3743A|HECTD4_ENST00000377560.5_Silent_p.A3993A NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TGAGGATATCCGCTTCCTGCA 0.617000 31 64 1.42033e-22 2.34947e-22 1 1 0 C7orf33 202865 broad.mit.edu 37 7 148311372 148311372 + Missense_Mutation SNP C C G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:148311372C>G ENST00000307003.2 + 2 804 c.443C>G c.(442-444)aCa>aGa p.T148R NM_145304.2 NP_660347.1 Q8WU49 CG033_HUMAN chromosome 7 open reading frame 33 148 central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2) 14 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) AGGACAGTGACAAGTTCATAC 0.483000 30 44 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60042681 60042681 + Silent SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr17:60042681C>A ENST00000397786.2 - 20 4606 c.4530G>T c.(4528-4530)gcG>gcT p.A1510A NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1510 Ser-rich. 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 TAGTGCTGCTCGCTGCAGATG 0.433000 93 50 7.17885e-55 1.30734e-54 1 1 0 DSCAM 1826 broad.mit.edu 37 21 41416154 41416154 + Missense_Mutation SNP C C G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr21:41416154C>G ENST00000400454.1 - 31 5711 c.5234G>C c.(5233-5235)cGc>cCc p.R1745P NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1745 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GCTGGCATAGCGGTTTCTCGC 0.602000 18 15 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24593414 24593414 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr5:24593414G>T ENST00000264463.4 - 2 693 c.186C>A c.(184-186)ttC>ttA p.F62L RP11-116O11.1_ENST00000510391.1_RNA NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 62 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CTTCAAGTAAGAAAAATTGAT 0.373000 HNSCC(23;0.051) 4 191 0.00909568 0.00940361 1 1 0 OR2T27 403239 broad.mit.edu 37 1 248814182 248814182 + Nonsense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:248814182C>A ENST00000344889.3 - 1 3 c.4G>T c.(4-6)Gag>Tag p.E2* NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTGCTCTGCTCCATAGCTCTG 0.428000 7 31 2.17888e-05 2.42982e-05 1 1 0 SRPK3 26576 broad.mit.edu 37 X 153047046 153047046 + Missense_Mutation SNP G G C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:153047046G>C ENST00000489426.1 + 9 2844 c.478G>C c.(478-480)Gtc>Ctc p.V160L SRPK3_ENST00000370108.3_Missense_Mutation_p.V93L|SRPK3_ENST00000370101.3_Missense_Mutation_p.V93L|SRPK3_ENST00000393786.3_Missense_Mutation_p.V93L|SRPK3_ENST00000370100.1_Missense_Mutation_p.V51L|SRPK3_ENST00000370104.1_Missense_Mutation_p.V93L Q9UPE1 SRPK3_HUMAN SRSF protein kinase 3 93 Protein kinase. cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1) 13 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CTTCTCCACCGTCTGGCTCTG 0.662000 8 28 0 0 1 0 0 NSMF 26012 broad.mit.edu 37 9 140349708 140349708 + Silent SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr9:140349708G>A ENST00000371475.3 - 6 993 c.762C>T c.(760-762)tcC>tcT p.S254S NSMF_ENST00000371472.2_Silent_p.S252S|NSMF_ENST00000371473.3_Silent_p.S254S|NSMF_ENST00000339554.3_Silent_p.S51S|NSMF_ENST00000392812.4_Intron|NSMF_ENST00000371474.3_Intron|NSMF_ENST00000265663.7_Silent_p.S252S|NSMF_ENST00000437259.1_Intron NM_001130969.1 NP_001124441.1 NMDA receptor synaptonuclear signaling and neuronal migration factor TTACAGACGCGGAATCATTCT 0.672000 27 78 0 0 1 0 0 MCM6 4175 broad.mit.edu 37 2 136605641 136605641 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:136605641C>A ENST00000264156.2 - 14 2095 c.2035G>T c.(2035-2037)Ggt>Tgt p.G679C MCM6_ENST00000492091.1_5'UTR NM_005915.5 NP_005906.2 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 679 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) CCACCAGCACCCTCATCTACC 0.438000 17 105 3.7963e-18 5.98069e-18 1 1 0 P2RY14 9934 broad.mit.edu 37 3 150931544 150931544 + Silent SNP T T A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr3:150931544T>A ENST00000309170.3 - 3 873 c.561A>T c.(559-561)tcA>tcT p.S187S MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Silent_p.S187S NM_001081455.1|NM_014879.3 NP_001074924.1|NP_055694.3 Q15391 P2Y14_HUMAN purinergic receptor P2Y, G-protein coupled, 14 187 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1) 20 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGATGTAGTTTGATGCTTTGT 0.368000 35 63 0 0 1 0 0 PRODH2 58510 broad.mit.edu 37 19 36297334 36297334 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr19:36297334C>A ENST00000301175.3 - 8 1244 c.1227G>T c.(1225-1227)caG>caT p.Q409H NM_021232.1 NP_067055.1 Q9UF12 PROD2_HUMAN proline dehydrogenase (oxidase) 2 409 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGGCCTACCTCTGACTGGTGG 0.577000 10 57 1.49906e-05 1.6907e-05 1 1 0 TTLL11 158135 broad.mit.edu 37 9 124794027 124794027 + Missense_Mutation SNP T T A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr9:124794027T>A ENST00000321582.5 - 3 1125 c.938A>T c.(937-939)gAc>gTc p.D313V TTLL11_ENST00000474723.1_Intron|TTLL11_ENST00000373776.3_Missense_Mutation_p.D313V NM_001139442.1 NP_001132914.1 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 313 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1) 18 CTGGAACTCGTCAGGCAGAAT 0.502000 7 33 0 0 1 0 0 SH2D3C 10044 broad.mit.edu 37 9 130507126 130507126 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr9:130507126C>T ENST00000314830.8 - 7 1630 c.1517G>A c.(1516-1518)cGa>cAa p.R506Q SH2D3C_ENST00000373274.3_Missense_Mutation_p.R346Q|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R438Q|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R349Q|SH2D3C_ENST00000429553.1_Missense_Mutation_p.R152Q|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R348Q|SH2D3C_ENST00000471939.1_5'UTR NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 506 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TGCCCACTCTCGGCTGCCACG 0.642000 10 166 0 0 1 0 0 OC90 729330 broad.mit.edu 37 8 133041363 133041363 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr8:133041363C>A ENST00000262283.5 - 17 1830 c.1731G>T c.(1729-1731)agG>agT p.R577S OC90_ENST00000254627.3_Missense_Mutation_p.R365S|OC90_ENST00000603859.1_Missense_Mutation_p.R365S|OC90_ENST00000443356.2_Missense_Mutation_p.R381S Q02509 OC90_HUMAN otoconin 90 381 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) ACCAAGGAAGCCTCTCAAGCA 0.507000 23 92 1.42536e-11 1.95126e-11 1 1 0 TGM6 343641 broad.mit.edu 37 20 2398055 2398055 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr20:2398055C>A ENST00000202625.2 + 10 1575 c.1514C>A c.(1513-1515)cCc>cAc p.P505H TGM6_ENST00000381423.1_Missense_Mutation_p.P505H NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 505 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) CTAGAGCCTCCCATGCTGGGC 0.657000 5 22 0.217242 0.218342 1 1 0 VGLL1 51442 broad.mit.edu 37 X 135630895 135630895 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:135630895G>T ENST00000370634.3 + 3 532 c.362G>T c.(361-363)aGg>aTg p.R121M NM_016267.3 NP_057351.1 Q99990 VGLL1_HUMAN vestigial like 1 (Drosophila) 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;0.000127) TCCCTGGCTAGGAGGGCCTCT 0.607000 48 195 1.19403e-26 2.05208e-26 1 1 0 ITGAD 3681 broad.mit.edu 37 16 31434769 31434769 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr16:31434769G>T ENST00000389202.2 + 25 3005 c.2956G>T c.(2956-2958)Gcc>Tcc p.A986S NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 986 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GGTCATGGAGGCCCCATCTCA 0.552000 36 79 4.16155e-14 6.18777e-14 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77762506 77762506 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr8:77762506C>A ENST00000521891.2 + 9 4320 c.3872C>A c.(3871-3873)cCa>cAa p.P1291Q ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1246Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1246Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1265Q NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1246 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GTGATGATGCCAAACAGTATG 0.488000 HNSCC(33;0.089) 5 12 2.7689e-08 3.43516e-08 1 1 0 ANK1 286 broad.mit.edu 37 8 41530129 41530129 + Silent SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr8:41530129G>T ENST00000396942.1 - 38 4922 c.4839C>A c.(4837-4839)ccC>ccA p.P1613P ANK1_ENST00000265709.8_Silent_p.P1654P|ANK1_ENST00000289734.7_Silent_p.P1613P|ANK1_ENST00000396945.1_Silent_p.P1613P|ANK1_ENST00000347528.4_Silent_p.P1613P|ANK1_ENST00000352337.4_Silent_p.P1613P|ANK1_ENST00000379758.2_Silent_p.P1613P P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1613 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.P1654P(1)|p.P1613P(1) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) AGCCCAACTCGGGGCCCCGCG 0.567000 20 124 7.45023e-12 1.02699e-11 1 1 0 PRLR 5618 broad.mit.edu 37 5 35070319 35070319 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr5:35070319G>T ENST00000382002.5 - 7 1018 c.592C>A c.(592-594)Cca>Aca p.P198T PRLR_ENST00000231423.3_Missense_Mutation_p.P198T|PRLR_ENST00000342362.5_Missense_Mutation_p.P97T|PRLR_ENST00000542609.1_Missense_Mutation_p.P198T|PRLR_ENST00000513753.1_Missense_Mutation_p.P198T|PRLR_ENST00000511486.1_Missense_Mutation_p.P97T|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000397391.3_Missense_Mutation_p.P127T|PRLR_ENST00000310101.5_Missense_Mutation_p.P198T|PRLR_ENST00000348262.3_Missense_Mutation_p.P198T NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 198 Fibronectin type-III 2. activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TTCTGTCCTGGATGTAGGCTG 0.443000 12 37 0.00136819 0.00144078 1 1 0 PCLO 27445 broad.mit.edu 37 7 82584021 82584021 + Missense_Mutation SNP G G C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:82584021G>C ENST00000423517.2 - 5 6585 c.6248C>G c.(6247-6249)aCc>aGc p.T2083S PCLO_ENST00000333891.8_Missense_Mutation_p.T2083S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2014 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 GGGGGCCTGGGTTGGGCTAGA 0.463000 4 39 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65145918 65145918 + Splice_Site SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr4:65145918C>A ENST00000381210.3 - 12 1075 c.e12-1 TECRL_ENST00000507440.1_Intron NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 AAAATTCCAACTAGAAGAAAA 0.269000 3 14 6.4e-05 7.07744e-05 1 1 0 MBD1 4152 broad.mit.edu 37 18 47800235 47800235 + Splice_Site SNP T T C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr18:47800235T>C ENST00000591416.1 - 12 1578 c.e12-2 MBD1_ENST00000585672.1_Splice_Site|MBD1_ENST00000585595.1_Splice_Site|MBD1_ENST00000457839.2_Splice_Site|MBD1_ENST00000436910.1_Splice_Site|MBD1_ENST00000424334.2_Splice_Site|MBD1_ENST00000398488.1_Splice_Site|MBD1_ENST00000398493.1_Splice_Site|MBD1_ENST00000398495.2_Splice_Site|MBD1_ENST00000382948.5_Splice_Site|MBD1_ENST00000353909.3_Splice_Site|MBD1_ENST00000349085.2_Splice_Site|MBD1_ENST00000347968.3_Splice_Site|MBD1_ENST00000339998.6_Splice_Site|MBD1_ENST00000269468.5_Splice_Site|MBD1_ENST00000269471.5_Splice_Site|MBD1_ENST00000588937.1_Splice_Site|MBD1_ENST00000587605.1_Splice_Site|MBD1_ENST00000591535.1_Splice_Site|MBD1_ENST00000590208.1_Splice_Site Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 CAGCCGCTTCTATGGGGAAAG 0.612000 29 24 0 0 1 0 0 FOXP3 50943 broad.mit.edu 37 X 49114015 49114015 + Missense_Mutation SNP G G C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:49114015G>C ENST00000376207.4 - 4 510 c.323C>G c.(322-324)aCg>aGg p.T108R FOXP3_ENST00000518685.1_Missense_Mutation_p.T73R|FOXP3_ENST00000376199.2_Missense_Mutation_p.T73R|FOXP3_ENST00000455775.2_Missense_Mutation_p.T108R|FOXP3_ENST00000557224.1_Missense_Mutation_p.T73R|FOXP3_ENST00000376197.1_Missense_Mutation_p.T58R NM_014009.3 NP_054728.2 Q9BZS1 FOXP3_HUMAN forkhead box P3 108 B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen cytoplasm|nucleus|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1) 10 Ovarian(276;0.236) GGCATCCACCGTTGAGAGCTG 0.677000 13 24 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57326157 57326157 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr19:57326157G>T ENST00000326441.9 - 10 4016 c.3653C>A c.(3652-3654)cCt>cAt p.P1218H ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.P1092H|PEG3_ENST00000423103.2_Missense_Mutation_p.P1218H|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.P1094H|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1218 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) AGCAAGAGCAGGATTCCTCTC 0.483000 11 50 9.31168e-06 1.05924e-05 1 1 0 BDP1 55814 broad.mit.edu 37 5 70785246 70785246 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr5:70785246G>T ENST00000358731.4 + 10 1492 c.1229G>T c.(1228-1230)tGt>tTt p.C410F BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 410 Required for phosphorylation by CSNK2A1. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AAAGTTGCCTGTGAAGGAGTG 0.358000 9 13 1.12685e-05 1.27453e-05 1 1 0 KRAS 3845 broad.mit.edu 37 12 25398282 25398282 + Missense_Mutation SNP C C A rs121913535 TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr12:25398282C>A ENST00000311936.3 - 2 228 c.37G>T c.(37-39)Ggc>Tgc p.G13C KRAS_ENST00000256078.4_Missense_Mutation_p.G13C|KRAS_ENST00000557334.1_Missense_Mutation_p.G13C|KRAS_ENST00000556131.1_Missense_Mutation_p.G13C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 13 G -> D (in a breast carcinoma cell line and GASC; somatic mutation).|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G13C(213)|p.G13S(59)|p.G13R(43)|p.G12_G13insG(3)|p.G13N(1)|p.G13I(1)|p.G12_G13insA(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) TTGCCTACGCCACCAGCTCCA 0.343000 G13C(MORCPR_LUNG)|G13C(NCIH1355_LUNG)|G13C(NCIH1734_LUNG)|G13C(TOV21G_OVARY) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 14 10 1.5739e-10 2.08279e-10 1 1 0 DCAF12L2 340578 broad.mit.edu 37 X 125299578 125299578 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:125299578C>A ENST00000538699.1 - 2 410 c.330G>T c.(328-330)caG>caT p.Q110H DCAF12L2_ENST00000360028.2_Missense_Mutation_p.Q110H NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 110 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 CGCACACCACCTGCCTGGCGT 0.652000 36 40 3.76114e-14 5.61342e-14 1 1 0 EGLN3 112399 broad.mit.edu 37 14 34419911 34419911 + Silent SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr14:34419911C>A ENST00000547327.2 - 1 376 c.48G>T c.(46-48)ctG>ctT p.L16L EGLN3_ENST00000553215.1_Silent_p.L16L|EGLN3_ENST00000250457.3_Silent_p.L16L Q9H6Z9 EGLN3_HUMAN egl-9 family hypoxia-inducible factor 3 16 apoptosis cytoplasm|nucleus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1) 15 Breast(36;0.0303)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155) GBM - Glioblastoma multiforme(112;0.0118) Vitamin C(DB00126) CGATGTACTCCAGGGCAATTT 0.627000 25 170 3.28513e-13 4.72535e-13 1 1 0 EN1 2019 broad.mit.edu 37 2 119603936 119603936 + Missense_Mutation SNP G G C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:119603936G>C ENST00000295206.6 - 1 1318 c.808C>G c.(808-810)Ctc>Gtc p.L270V NM_001426.3 NP_001417.3 Q05925 HME1_HUMAN engrailed homeobox 1 270 skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 9 GGCCATACGAGAGGCTGCTGC 0.637000 4 28 0 0 1 0 0 KCTD14 65987 broad.mit.edu 37 11 77727789 77727789 + Silent SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:77727789C>A ENST00000353172.5 - 2 662 c.618G>T c.(616-618)gcG>gcT p.A206A KCTD14_ENST00000533144.1_Silent_p.A176A NM_001203260.1|NM_001203262.1|NM_023930.3 NP_001190189.1|NP_001190191.1|NP_076419.2 Q9BQ13 KCD14_HUMAN potassium channel tetramerization domain containing 14 206 voltage-gated potassium channel complex voltage-gated potassium channel activity p.A206A(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 15 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) TGTCTAGGACCGCCTTCCAGG 0.493000 55 31 7.47603e-22 1.22644e-21 1 1 0 GPC5 2262 broad.mit.edu 37 13 92797198 92797198 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr13:92797198G>T ENST00000377067.3 + 7 1889 c.1517G>T c.(1516-1518)gGa>gTa p.G506V NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 506 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) GGTTGCGGGGGATCAGGAAGT 0.433000 30 52 4.92203e-23 8.17592e-23 1 1 0 CNTN1 1272 broad.mit.edu 37 12 41323597 41323597 + Splice_Site SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr12:41323597G>A ENST00000551295.2 + 7 613 c.e7-1 CNTN1_ENST00000547849.1_Splice_Site|CNTN1_ENST00000347616.1_Splice_Site|CNTN1_ENST00000547702.1_Splice_Site|CNTN1_ENST00000348761.2_Splice_Site|CNTN1_ENST00000360099.3_Splice_Site NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TTTTCTCCTAGATGATCTTAG 0.343000 12 25 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) 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) ggaaggggaaaaaaagaaggg 0.413000 3 48 0 0 1 0 0 MELK 9833 broad.mit.edu 37 9 36657331 36657331 + Missense_Mutation SNP A A T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr9:36657331A>T ENST00000543751.1 + 12 1196 c.1051A>T c.(1051-1053)Aca>Tca p.T351S MELK_ENST00000536860.1_Missense_Mutation_p.T335S|MELK_ENST00000298048.2_Missense_Mutation_p.T383S|MELK_ENST00000536987.1_Missense_Mutation_p.T252S|MELK_ENST00000545008.1_Missense_Mutation_p.T312S|MELK_ENST00000541717.1_Intron|MELK_ENST00000536329.1_Missense_Mutation_p.T312S|MELK_ENST00000538311.1_Missense_Mutation_p.T189S NM_001256689.1 NP_001243618.1 Q14680 MELK_HUMAN maternal embryonic leucine zipper kinase 383 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06) STAD - Stomach adenocarcinoma(86;0.228) TGATTTATCAACAGGTGCTGC 0.363000 5 33 0 0 1 0 0 GRM5 2915 broad.mit.edu 37 11 88241831 88241831 + Missense_Mutation SNP A A T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:88241831A>T ENST00000418177.2 - 10 3935 c.3568T>A c.(3568-3570)Tgt>Agt p.C1190S GRM5_ENST00000393297.1_Missense_Mutation_p.C920S|GRM5_ENST00000305447.4_Missense_Mutation_p.C1190S|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000455756.2_Missense_Mutation_p.C1158S|GRM5_ENST00000305432.5_Missense_Mutation_p.C1158S P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 1190 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GACGGGATACAGAGGGCCGAC 0.602000 24 26 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100831070 100831070 + Nonsense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr8:100831070C>T ENST00000358544.2 + 47 8761 c.8650C>T c.(8650-8652)Caa>Taa p.Q2884* VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.Q2859* NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2884 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AAAACCACTGCAAAACATAGA 0.388000 11 28 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186277358 186277358 + Missense_Mutation SNP C C G TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:186277358C>G ENST00000445192.2 + 7 2552 c.2507C>G c.(2506-2508)cCc>cGc p.P836R PRG4_ENST00000367486.3_Missense_Mutation_p.P793R|PRG4_ENST00000367483.4_Missense_Mutation_p.P795R|PRG4_ENST00000367485.4_Missense_Mutation_p.P743R|PRG4_ENST00000367484.3_Missense_Mutation_p.P365R NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 836 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 GAGCCTGCACCCACTACCCCC 0.577000 55 172 0 0 1 0 0 LRRC4 64101 broad.mit.edu 37 7 127670042 127670042 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr7:127670042C>A ENST00000249363.3 - 2 909 c.652G>T c.(652-654)Gtg>Ttg p.V218L SND1_ENST00000354725.3_Intron NM_022143.4 NP_071426.1 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 218 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) TCCAGCCCCACCAGGGGGGTG 0.542000 9 37 1.12685e-05 1.27453e-05 1 1 0 ECE1 1889 broad.mit.edu 37 1 21582525 21582525 + Missense_Mutation SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:21582525G>A ENST00000415912.2 - 8 1012 c.887C>T c.(886-888)aCg>aTg p.T296M ECE1_ENST00000357071.4_Missense_Mutation_p.T300M|ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000374893.6_Missense_Mutation_p.T312M|ECE1_ENST00000264205.6_Missense_Mutation_p.T309M|ECE1_ENST00000436918.2_Missense_Mutation_p.T312M NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 312 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) GGCCAGTGCCGTCTCAAAGTC 0.607000 11 45 0 0 1 0 0 PACRGL 133015 broad.mit.edu 37 4 20709441 20709441 + Silent SNP C C A rs74492021 by1000genomes TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr4:20709441C>A ENST00000360916.5 + 4 614 c.223C>A c.(223-225)Cga>Aga p.R75R PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000444671.2_Intron|PACRGL_ENST00000503585.1_Silent_p.R75R|PACRGL_ENST00000507634.1_Silent_p.R75R|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000295290.8_Silent_p.R75R|PACRGL_ENST00000513459.1_Intron|PACRGL_ENST00000502374.1_Intron NM_145048.3 NP_659485.1 Q8N7B6 PACRL_HUMAN PARK2 co-regulated-like 75 binding endometrium(2)|lung(7)|prostate(1) 10 TGAACAGTCACGAGTGCCTTC 0.348000 8 32 2.17888e-05 2.42982e-05 1 1 0 COL5A1 1289 broad.mit.edu 37 9 137593141 137593141 + Missense_Mutation SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr9:137593141G>A ENST00000371817.3 + 4 1030 c.616G>A c.(616-618)Gtg>Atg p.V206M COL5A1_ENST00000464187.1_3'UTR NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 206 Laminin G-like.|TSP N-terminal. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TGGCATCATCGTGTTTGGCAC 0.552000 4 22 0 0 1 0 0 HDAC2 3066 broad.mit.edu 37 6 114281109 114281109 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr6:114281109C>A ENST00000519065.1 - 2 502 c.126G>T c.(124-126)ttG>ttT p.L42F HDAC2_ENST00000519108.1_Missense_Mutation_p.L12F|HDAC2_ENST00000398283.2_Missense_Mutation_p.L136F|HDAC2_ENST00000368632.2_Missense_Mutation_p.L12F Q92769 HDAC2_HUMAN histone deacetylase 2 42 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) AATTTAACAGCAAGTTATGGG 0.308000 15 47 2.08468e-23 3.49205e-23 1 1 0 MICB 4277 broad.mit.edu 37 6 31475190 31475190 + Silent SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr6:31475190G>A ENST00000252229.6 + 5 985 c.906G>A c.(904-906)gtG>gtA p.V302V MICB_ENST00000399150.3_Silent_p.V259V|MICB_ENST00000538442.1_Silent_p.V270V NM_005931.3 NP_005922.2 Q29980 MICB_HUMAN MHC class I polypeptide-related sequence B 302 antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 13 AGGCGCTGGTGCTTCAGAGTC 0.473000 21 11 0 0 1 0 0 FZD10 11211 broad.mit.edu 37 12 130648739 130648739 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr12:130648739G>T ENST00000539839.1 + 1 1736 c.1154G>T c.(1153-1155)cGt>cTt p.R385L FZD10_ENST00000229030.4_Missense_Mutation_p.V418L NM_007197.3 NP_009128.1 Q9ULW2 FZD10_HUMAN frizzled family receptor 10 0 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CTCGGGCTTCGTGGCCCTGTT 0.612000 18 59 7.45023e-12 1.02699e-11 1 1 0 MYF5 4617 broad.mit.edu 37 12 81112732 81112732 + Missense_Mutation SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr12:81112732C>A ENST00000228644.3 + 3 822 c.670C>A c.(670-672)Ctc>Atc p.L224I NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 224 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 TGGGTTGCCTCTCCAGGATCT 0.493000 32 38 1.62565e-12 2.27247e-12 1 1 0 DHX30 22907 broad.mit.edu 37 3 47882389 47882389 + Missense_Mutation SNP G G C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr3:47882389G>C ENST00000446256.2 + 8 844 c.272G>C c.(271-273)cGg>cCg p.R91P DHX30_ENST00000457607.1_Missense_Mutation_p.R158P|DHX30_ENST00000445061.1_Missense_Mutation_p.R130P|DHX30_ENST00000348968.4_Missense_Mutation_p.R102P NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 130 DRBM. mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) CTAGGTCCCCGGAATGAGTTG 0.577000 24 16 0 0 1 0 0 OR5D16 390144 broad.mit.edu 37 11 55606955 55606955 + Missense_Mutation SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:55606955G>A ENST00000378396.1 + 1 728 c.728G>A c.(727-729)tGt>tAt p.C243Y NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) TTCTCCACCTGTGCCTCCCAC 0.502000 18 47 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119976934 119976934 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr9:119976934G>T ENST00000313400.4 - 3 818 c.718C>A c.(718-720)Ccc>Acc p.P240T ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.P240T|ASTN2_ENST00000373996.3_Missense_Mutation_p.P240T O75129 ASTN2_HUMAN astrotactin 2 240 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CTCTTCTGGGGGATGCGGCGA 0.642000 9 25 3.07112e-06 3.54428e-06 1 1 0 TRIM44 54765 broad.mit.edu 37 11 35706848 35706848 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:35706848G>T ENST00000299413.5 + 2 1018 c.711G>T c.(709-711)ttG>ttT p.L237F NM_017583.4 NP_060053.2 Q96DX7 TRI44_HUMAN tripartite motif containing 44 237 intracellular protein binding|zinc ion binding endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115) all_hematologic(20;0.107) TGATCGAATTGGTGGAAAGGT 0.428000 25 21 5.60225e-13 7.94319e-13 1 1 0 OR5T1 390155 broad.mit.edu 37 11 56044039 56044039 + Missense_Mutation SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr11:56044039G>A ENST00000313033.2 + 1 1011 c.925G>A c.(925-927)Gta>Ata p.V309I NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) GAACAAAGATGTAAAGGAGGC 0.348000 25 40 0 0 1 0 0 TMEM8A 58986 broad.mit.edu 37 16 427672 427672 + Translation_Start_Site SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr16:427672C>T ENST00000250930.3 - 0 204 TMEM8A_ENST00000431232.2_Splice_Site_p.V100_splice|TMEM8A_ENST00000476735.1_5'UTR Q9HCN3 TMM8A_HUMAN transmembrane protein 8A cell adhesion integral to plasma membrane central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 14 GCCACCTACACGGTGATCTCC 0.706000 3 7 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21545028 21545028 + Missense_Mutation SNP C C T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chrX:21545028C>T ENST00000425654.2 + 10 1481 c.1001C>T c.(1000-1002)tCc>tTc p.S334F CNKSR2_ENST00000279451.4_Missense_Mutation_p.S334F|CNKSR2_ENST00000543067.1_Missense_Mutation_p.S285F|CNKSR2_ENST00000379510.3_Missense_Mutation_p.S334F NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 334 DUF1170. regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 GCCACGCCTTCCAGCACCATC 0.453000 133 135 0 0 1 0 0 RAP1B 5908 broad.mit.edu 37 12 69044230 69044230 + Silent SNP A A T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr12:69044230A>T ENST00000250559.9 + 3 339 c.108A>T c.(106-108)atA>atT p.I36I RAP1B_ENST00000450214.2_Intron|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000543697.1_Silent_p.I36I|RAP1B_ENST00000542145.1_Silent_p.I36I|RAP1B_ENST00000341355.5_Silent_p.I36I|RAP1B_ENST00000541216.1_Silent_p.I36I|RAP1B_ENST00000540209.1_Silent_p.I36I|RAP1B_ENST00000539091.1_Intron|RAP1B_ENST00000537460.1_Silent_p.I36I|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000393436.5_Silent_p.I36I NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5 NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1 P61224 RAP1B_HUMAN RAP1B, member of RAS oncogene family 36 blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion cell-cell junction|cytosol GDP binding|GTP binding|GTPase activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2) 12 Breast(13;1.24e-05) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GBM - Glioblastoma multiforme(7;0.000306) ATCCTACGATAGAAGATTCTT 0.234000 5 18 0 0 1 0 0 PROKR2 128674 broad.mit.edu 37 20 5294804 5294804 + Missense_Mutation SNP T T C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr20:5294804T>C ENST00000546004.1 - 2 458 c.212A>G c.(211-213)aAc>aGc p.N71S PROKR2_ENST00000217270.3_Missense_Mutation_p.N71S Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 71 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 AAAGACAAAGTTACCGATGCC 0.547000 HNSCC(71;0.22) 10 50 0 0 1 0 0 RHCG 51458 broad.mit.edu 37 15 90022631 90022631 + Silent SNP G G A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr15:90022631G>A ENST00000268122.4 - 5 827 c.759C>T c.(757-759)acC>acT p.T253T RHCG_ENST00000544600.1_Silent_p.T253T NM_016321.1 NP_057405.1 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 253 amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding p.T253T(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(78;0.0237)|all_lung(78;0.0478) AGGAGCAGTAGGTGTTGATGG 0.597000 35 18 0 0 1 0 0 TCTEX1D1 200132 broad.mit.edu 37 1 67242954 67242955 + Frame_Shift_Del DEL GG GG - TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr1:67242954_67242955delGG ENST00000282670.2 + 5 485_486 c.357_358delGG c.(355-360)aaacfs p.KD119fs NM_152665.2 NP_689878.2 Q8N7M0 TC1D1_HUMAN Tctex1 domain containing 1 119 large_intestine(2)|lung(10)|skin(1) 13 CCCAGGTCAAGGACTTGATGAT 0.371 10 44 --- --- --- --- LINC01250 101927554 broad.mit.edu 37 2 2910813 2910814 + RNA INS - - T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:2910813_2910814insT ENST00000457478.1 - 0 594 tccaccccctctccccagccca 0.708 5 2 --- --- --- --- AFF3 3899 broad.mit.edu 37 2 100218011 100218013 + In_Frame_Del DEL GCT GCT - TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:100218011_100218013delGCT ENST00000317233.4 - 13 1490_1492 c.1255_1257delAGC c.(1255-1257)del p.S419del AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000409236.1_In_Frame_Del_p.S419del|AFF3_ENST00000356421.2_In_Frame_Del_p.S444del NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 419 Poly-Ser. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 tgctgctgccgctgctgctgctg 0.685 2 4 --- --- --- --- LRP1B 53353 broad.mit.edu 37 2 141665475 141665475 + Frame_Shift_Del DEL G G - TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr2:141665475delG ENST00000389484.3 - 22 4462 c.3491delC c.(3490-3492)ctfs p.P1164fs NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1164 LDL-receptor class A 10. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGAGCCATCAGGACAATCCTT 0.433 TSP Lung(27;0.18) 49 118 --- --- --- --- IMPG1 3617 broad.mit.edu 37 6 76734925 76734926 + Frame_Shift_Ins INS - - T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr6:76734925_76734926insT ENST00000369963.3 - 4 502_503 c.313_314insA c.(313-315)tgtfs p.C105fs IMPG1_ENST00000369950.3_Frame_Shift_Ins_p.C183fs Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 183 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TGAAATGACAATGGTTTCACCA 0.327 16 65 --- --- --- --- ZFHX4 79776 broad.mit.edu 37 8 77764624 77764626 + In_Frame_Del DEL CAG CAG - TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr8:77764624_77764626delCAG ENST00000521891.2 + 10 5915_5917 c.5467_5469delCAG c.(5467-5469)del p.Q1829del ZFHX4_ENST00000455469.2_In_Frame_Del_p.Q1784del|ZFHX4_ENST00000518282.1_In_Frame_Del_p.Q1803del|ZFHX4_ENST00000050961.6_In_Frame_Del_p.Q1784del NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1784 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) accacctccacagcagcagcagc 0.473 HNSCC(33;0.089) 2 4 --- --- --- --- PTPLAD2 401494 broad.mit.edu 37 9 21007045 21007046 + Frame_Shift_Ins INS - - T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr9:21007045_21007046insT ENST00000495827.1 - 7 734_735 c.689_690insA c.(688-690)aaafs p.K230fs PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs NM_001010915.3 NP_001010915.2 Q5VWC8 HACD4_HUMAN protein tyrosine phosphatase-like A domain containing 2 230 Poly-Lys. fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane lyase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10) TTCACATCTTCTTTTTTTTAAT 0.371 7 69 --- --- --- --- COQ7 10229 broad.mit.edu 37 16 19079000 19079001 + In_Frame_Ins INS - - GGC TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr16:19079000_19079001insGGC ENST00000321998.5 + 1 80_81 c.14_15insGGC c.(13-15)ggc>gGGCgc p.5_6insR RP11-626G11.5_ENST00000567047.1_RNA|COQ7_ENST00000568985.1_In_Frame_Ins_p.5_6insR NM_016138.4 NP_057222.2 Q99807 COQ7_HUMAN coenzyme Q7 homolog, ubiquinone (yeast) 5 Poly-Ala. ubiquinone biosynthetic process mitochondrial inner membrane|nucleus oxidoreductase activity|transition metal ion binding breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1) 10 AGTTgcgccggggcggcggcgg 0.649 4 6 --- --- --- --- FBXL19 54620 broad.mit.edu 37 16 30939203 30939204 + Frame_Shift_Ins INS - - C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr16:30939203_30939204insC ENST00000338343.4 + 5 933_934 c.546_547insC c.(544-549)ggccccfs p.GP182fs FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000380310.2_Frame_Shift_Ins_p.GP202fs|FBXL19_ENST00000565690.1_Intron|FBXL19_ENST00000562319.1_Frame_Shift_Ins_p.GP182fs Q6PCT2 FXL19_HUMAN F-box and leucine-rich repeat protein 19 202 DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 TGCCTGCCGGGCCCCCCCCGGA 0.708 2 4 --- --- --- --- CENPV 201161 broad.mit.edu 37 17 16256469 16256471 + In_Frame_Del DEL CGG CGG - TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr17:16256469_16256471delCGG ENST00000299736.4 - 1 342_344 c.280_282delCCG c.(280-282)del p.P94del CENPV_ENST00000476243.1_5'UTR NM_181716.2 NP_859067.2 Q7Z7K6 CENPV_HUMAN centromere protein V 97 Pro-rich. cell division|centromeric heterochromatin formation|mitosis|positive regulation of cytokinesis|regulation of chromosome organization condensed chromosome kinetochore|cytoplasm|nucleus|spindle midzone carbon-sulfur lyase activity endometrium(1)|large_intestine(2) 3 TCGCGGGAGTcggcggcggcggc 0.773 2 4 --- --- --- --- HOXB4 3214 broad.mit.edu 37 17 46657167 46657168 + Translation_Start_Site INS - - AT TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr17:46657167_46657168insAT ENST00000332503.5 - 0 305_306 HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000498678.1_Intron NM_024015.4 NP_076920.1 P17483 HXB4_HUMAN homeobox B4 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2) 9 ACTACATATACATATATATATA 0.361 6 5 --- --- --- --- KIF19 124602 broad.mit.edu 37 17 72350399 72350400 + Frame_Shift_Del DEL CC CC - TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr17:72350399_72350400delCC ENST00000389916.4 + 18 2545_2546 c.2407_2408delCC c.(2407-2409)cfs p.P803fs NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 803 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 CCTGCTGGCACCCGCGACAGAG 0.713 22 10 --- --- --- --- APCDD1 147495 broad.mit.edu 37 18 10471699 10471699 + Frame_Shift_Del DEL G G - TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr18:10471699delG ENST00000355285.4 + 3 769 c.415delG c.(415-417)ggfs p.G140fs APCDD1_ENST00000578882.1_Frame_Shift_Del_p.G140fs NM_153000.4 NP_694545.1 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 140 hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 READ - Rectum adenocarcinoma(15;0.08) GATCATCCGAGGGGGCACGGA 0.597 8 33 --- --- --- --- GDF1 2657 broad.mit.edu 37 19 18981067 18981069 + In_Frame_Del DEL AGG AGG - TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73020d02-b5f8-4906-a2ae-fb870b62e6ca d10a25f9-5c37-4092-ad5a-b21414f9b568 g.chr19:18981067_18981069delAGG ENST00000247005.6 - 7 1393_1395 c.48_50delCCT c.(46-51)ctg>ct p.LL16del CERS1_ENST00000427170.2_3'UTR growth differentiation factor 1 CAGCAGGGCCAGGAGGAGGAGGA 0.749 2 4 --- --- --- ---