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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut CCDC102A 92922 broad.mit.edu 37 16 57552091 57552091 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:57552091C>T uc002elw.3 - 5 1350 c.1137G>A c.(1135-1137)cgG>cgA p.R379R NM_033212 NP_149989 Q96A19 C102A_HUMAN Homo sapiens coiled-coil domain containing 102A (CCDC102A), mRNA. 379 endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 CGACCTGTGCCCGCAGCTTCT 0.701000 121 65 0 0 0.003610 0 0 GGA1 26088 broad.mit.edu 37 22 38021897 38021897 + Missense_Mutation SNP C G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr22:38021897C>G uc003atc.3 + 10 1421 c.1034C>G c.(1033-1035)gCc>gGc p.A345G GGA1_uc003ate.3_Missense_Mutation_p.A345G|GGA1_uc003atd.3_Intron|GGA1_uc003atf.3_Missense_Mutation_p.A272G NM_013365 NP_001166159 Q9UJY5 GGA1_HUMAN Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA. 345 Unstructured hinge. intracellular protein transport|vesicle-mediated transport Golgi apparatus part|clathrin adaptor complex|endosome membrane protein binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) GGCGAGCAGGCCAGCCCTGAG 0.687000 69 31 0 0 0.005524 0 0 KCNA6 3742 broad.mit.edu 37 12 4919429 4919430 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:4919429_4919430CC>TT uc001qng.3 + 0 1088_1089 c.222_223CC>TT c.(220-225)gtccgc>gtTTgc p.R75C KCNA6_uc021qtr.1_Missense_Mutation_p.R75C NM_002235 NP_002226 P17658 KCNA6_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA. 75 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 GCCGGCGAGTCCGCTTCTTCGA 0.629000 HNSCC(72;0.22) 65 25 0 0 0.004672 0 0 TBC1D9 23158 broad.mit.edu 37 4 141578297 141578297 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:141578297G>A uc010ioj.3 - 12 2563 c.2291C>T c.(2290-2292)cCt>cTt p.P764L NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA. 764 intracellular Rab GTPase activator activity|calcium ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) CTCAGGGTAAGGTTCCACATC 0.488000 72 32 0 0 0.002096 0 0 PDHA2 5161 broad.mit.edu 37 4 96761854 96761854 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:96761854G>A uc003htr.4 + 0 616 c.553G>A c.(553-555)Gat>Aat p.D185N NM_005390 NP_005381 P29803 ODPAT_HUMAN Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA. 185 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity p.N184N(3) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) TAAAGGAAACGATGAGATCTG 0.483000 72 23 0 0 0.002780 0 0 DNAJC5B 85479 broad.mit.edu 37 8 67012243 67012243 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:67012243C>T uc003xvs.1 + 5 868 c.577C>T c.(577-579)Cga>Tga p.R193* DNAJC5B_uc003xvt.1_Non-coding_Transcript NM_033105 NP_149096 Q9UF47 DNJ5B_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA. 193 protein folding membrane heat shock protein binding|unfolded protein binding endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) AGAAGGATCTCGAAGTTATTG 0.433000 32 11 0 0 0.008291 0 0 AV2S1A1 0 broad.mit.edu 37 14 22356561 22356561 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:22356561C>T uc021rph.1 + 1 324 c.222C>T c.(220-222)tcC>tcT p.S74S TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Silent_p.S74S|AV2S1A1_uc021rpi.1_Non-coding_Transcript Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 117-2. TCATATACTCCAATGGTGACA 0.463000 143 60 0 0 0.003610 0 0 ITGAD 3681 broad.mit.edu 37 16 31427542 31427542 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:31427542C>T uc010cap.1 + 18 2344 c.2295C>T c.(2293-2295)ttC>ttT p.F765F ITGAD_uc002ebv.1_Silent_p.F764F NM_005353 NP_005344 Q13349 ITAD_HUMAN Homo sapiens integrin, alpha D (ITGAD), mRNA. 764 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 AGCTCCCCTTCGAGAAGAACT 0.498000 12 3 0 0 0.004672 0 0 HNRNPKP3 399881 broad.mit.edu 37 11 43283947 43283947 + RNA SNP T C C TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:43283947T>C uc001mxe.1 - 1 c.989A>G Homo sapiens heterogeneous nuclear ribonucleoprotein K pseudogene 3 (HNRNPKP3), non-coding RNA. CACTCTGTGGTTCATAAGCCA 0.448000 15 3 0 0 0.000248 0 0 LRRC3 81543 broad.mit.edu 37 21 45876772 45876772 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr21:45876772G>A uc021wjs.1 + 0 245 c.245G>A c.(244-246)gGg>gAg p.G82E LRRC3_uc002zfa.3_Missense_Mutation_p.G82E NM_030891 NP_112153 Q9BY71 LRRC3_HUMAN Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA. 82 integral to membrane protein binding p.G82R(1) endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 Breast(209;0.00908) COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195) CTCCCGGACGGGGCCTTCCAG 0.677000 51 17 0 0 0.008871 0 0 PCDHB9 56127 broad.mit.edu 37 5 140567237 140567237 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:140567237G>A uc003liw.1 + 0 345 c.345G>A c.(343-345)caG>caA p.Q115Q NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN Homo sapiens protocadherin beta 9 (PCDHB9), mRNA. 115 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATCCCTTTCAGATTTACCGGG 0.428000 27 5 0 0 0.001984 0 0 CAMK2G 818 broad.mit.edu 37 10 75634172 75634172 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:75634172G>A uc001jvv.2 - 0 178 c.48C>T c.(46-48)ctC>ctT p.L16L CAMK2G_uc001jvs.2_Silent_p.L16L|CAMK2G_uc001jvm.2_Silent_p.L16L|CAMK2G_uc001jvo.2_Silent_p.L16L|CAMK2G_uc001jvp.2_Silent_p.L16L|CAMK2G_uc001jvq.2_Silent_p.L16L|CAMK2G_uc001jvr.2_Silent_p.L16L|CAMK2G_uc001jvt.2_Non-coding_Transcript|CAMK2G_uc010qkv.2_5'UTR NM_172171 NP_751911 Q13555 KCC2G_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase II gamma (CAMK2G), transcript variant 1, mRNA. 16 Protein kinase. insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 15 Prostate(51;0.0112) GCTCCTCGAAGAGCTGGTAGT 0.756000 23 15 0 0 0.004007 0 0 ZNF239 8187 broad.mit.edu 37 10 44053482 44053482 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:44053482G>A uc001jaw.4 - 1 699 c.46C>T c.(46-48)Cga>Tga p.R16* ZNF239_uc001jax.4_Nonsense_Mutation_p.R16*|ZNF239_uc009xmj.3_Nonsense_Mutation_p.R16*|ZNF239_uc009xmk.3_Nonsense_Mutation_p.R16*|ZNF239_uc021pph.1_Nonsense_Mutation_p.R16* NM_005674 NP_005665 Q16600 ZN239_HUMAN Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA. 16 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 ACTTCCCCTCGATGATTCACA 0.463000 29 11 0 0 0.000978 0 0 TMEM63C 57156 broad.mit.edu 37 14 77715696 77715696 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:77715696C>T uc001xtf.2 + 20 2145 c.1933C>T c.(1933-1935)Ccc>Tcc p.P645S TMEM63C_uc010asq.1_Missense_Mutation_p.P645S NM_020431 NP_065164 Q9P1W3 TM63C_HUMAN Homo sapiens transmembrane protein 63C (TMEM63C), mRNA. 645 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) CTCCTTTGCACCCACCAAACT 0.537000 81 34 0 0 0.006230 0 0 FOSL2 2355 broad.mit.edu 37 2 28635280 28635280 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:28635280G>A uc002rma.3 + 3 1755 c.946G>A c.(946-948)Gac>Aac p.D316N FOSL2_uc021vfg.1_Missense_Mutation_p.D308N|FOSL2_uc010ymi.2_Missense_Mutation_p.D277N NM_005253 NP_005244 P15408 FOSL2_HUMAN Homo sapiens FOS-like antigen 2 (FOSL2), mRNA. 316 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155) CCAATCATCAGACTCCTTGAA 0.632000 28 17 0 0 0.006122 0 0 CLASP2 23122 broad.mit.edu 37 3 33552178 33552178 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:33552178G>A uc021wvc.1 - 36 4424 c.4213C>T c.(4213-4215)Cct>Tct p.P1405S CLASP2_uc003cfs.3_Missense_Mutation_p.P604S|CLASP2_uc021wva.1_Missense_Mutation_p.P479S|CLASP2_uc021wvb.1_Missense_Mutation_p.P1184S NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA. 1406 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 TGAATGATAGGACAAAGCACT 0.413000 31 10 0 0 0.000978 0 0 CSMD2 114784 broad.mit.edu 37 1 34100903 34100903 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:34100903G>A uc001bxm.1 - 30 5174 c.4997C>T c.(4996-4998)tCg>tTg p.S1666L CSMD2_uc001bxn.1_Missense_Mutation_p.S1626L|CSMD2_uc001bxo.1_Missense_Mutation_p.S539L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1626 CUB 10. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CACTCCGTCCGAACCCACATA 0.527000 OREG0013349 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 4 0 0 0.000248 0 0 USP6 9098 broad.mit.edu 37 17 5048705 5048705 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:5048705G>A uc002gau.1 + 26 4228 c.1998G>A c.(1996-1998)tgG>tgA p.W666* USP6_uc002gav.1_Nonsense_Mutation_p.W666*|USP6_uc010ckz.1_Nonsense_Mutation_p.W349* NM_004505 NP_004496 P35125 UBP6_HUMAN Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA. 666 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 GCTAGGCCTGGGACAACCATC 0.343000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 37 8 0 0 0.006214 0 0 KIF13A 63971 broad.mit.edu 37 6 17772169 17772169 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:17772169G>A uc003ncg.4 - 36 4606 c.4446C>T c.(4444-4446)gcC>gcT p.A1482A KIF13A_uc003ncf.3_Silent_p.A1469A|KIF13A_uc003nch.4_Silent_p.A1482A|KIF13A_uc003nci.4_Silent_p.A1469A|KIF13A_uc003nce.2_Silent_p.A68A NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA. 1482 Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TTGCTTCCAGGGCTATCCTTT 0.468000 289 216 0 0 0.003610 0 0 DUOX2 50506 broad.mit.edu 37 15 45389470 45389470 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr15:45389470C>T uc001zun.3 - 28 4016 c.3813G>A c.(3811-3813)gaG>gaA p.E1271E DUOX2_uc010bea.3_Silent_p.E1271E NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 1271 FAD-binding FR-type. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CCACGCTGATCTCCACCTTCT 0.587000 76 30 0 0 0.002096 0 0 CFHR2 3080 broad.mit.edu 37 1 196928040 196928040 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:196928040G>A uc001gtq.1 + 4 720 c.643G>A c.(643-645)Gaa>Aaa p.E215K CFHR2_uc001gtr.1_Missense_Mutation_p.E91K NM_005666 NP_005657 P36980 FHR2_HUMAN Homo sapiens complement factor H-related 2 (CFHR2), mRNA. 215 Sushi 4. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 AGAAATTATGGAAAAATATAA 0.284000 24 9 0 0 0.006214 0 0 LAMA3 3909 broad.mit.edu 37 18 21478738 21478738 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr18:21478738C>T uc002kuq.3 + 44 5736 c.5650C>T c.(5650-5652)Cat>Tat p.H1884Y LAMA3_uc002kur.3_Missense_Mutation_p.H1884Y|LAMA3_uc002kus.4_Missense_Mutation_p.H275Y|LAMA3_uc002kut.4_Missense_Mutation_p.H275Y NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 1884 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CATTTCAAATCATGGATCAAA 0.358000 44 25 0 0 0.007291 0 0 ALOX5AP 241 broad.mit.edu 37 13 31338174 31338174 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr13:31338174C>T uc010tdr.2 + 5 836 c.588C>T c.(586-588)ttC>ttT p.F196F ALOX5AP_uc001utf.2_Silent_p.F139F NM_001204406 NP_001191335 P20292 AL5AP_HUMAN Homo sapiens arachidonate 5-lipoxygenase-activating protein (ALOX5AP), transcript variant 2, mRNA. 139 cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane arachidonic acid binding|protein N-terminus binding endometrium(1)|large_intestine(1)|ovary(1)|prostate(1) 4 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864) TCTTCTTTTTCGGAAGTGACT 0.448000 121 38 0 0 0.005524 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85517990 85517990 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:85517990C>T uc001tac.3 + 16 3811 c.3700C>T c.(3700-3702)Cat>Tat p.H1234Y LRRIQ1_uc021rbo.1_Missense_Mutation_p.H1112Y NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA. 1234 p.H1234Y(5)|p.H1234L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) CCAGAAAAATCATTTGGCCCC 0.423000 54 21 0 0 0.002299 0 0 ITIH5 80760 broad.mit.edu 37 10 7657990 7657990 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:7657990G>A uc021pmv.1 - 6 1000 c.894C>T c.(892-894)ttC>ttT p.F298F ITIH5_uc021pmu.1_Silent_p.F84F|ITIH5_uc001ijr.2_Silent_p.F298F NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA. 298 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 TGTCAAGCACGAATACCACAT 0.478000 90 34 0 0 0.006230 0 0 DPY19L4 286148 broad.mit.edu 37 8 95768290 95768290 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:95768290C>T uc003ygx.2 + 6 762 c.638C>T c.(637-639)tCc>tTc p.S213F NM_181787 NP_861452 Q7Z388 D19L4_HUMAN Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA. 213 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) ATTGAATACTCCATTCCTTTA 0.313000 345 135 0 0 0.003610 0 0 PADI4 23569 broad.mit.edu 37 1 17681136 17681136 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:17681136G>A uc001baj.2 + 10 1292 c.1264G>A c.(1264-1266)Gaa>Aaa p.E422K NM_012387 NP_036519 Q9UM07 PADI4_HUMAN Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA. 422 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) CAGGGGCAAGGAATACCCGCT 0.572000 46 7 0 0 0.003080 0 0 UGT2B17 7367 broad.mit.edu 37 4 69433628 69433628 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:69433628G>A uc021xov.1 - 0 618 c.575C>T c.(574-576)cCt>cTt p.P192L NM_001077 NP_001068 O75795 UDB17_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA. 192 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 TACATAGGAAGGAGGGAACAG 0.383000 128 50 0 0 0.003610 0 0 SEPT7 989 broad.mit.edu 37 7 35930362 35930362 + Silent SNP T C C TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:35930362T>C uc010kxc.3 + 9 1175 c.951T>C c.(949-951)taT>taC p.Y317Y SEPT7_uc011kat.2_Silent_p.Y317Y|SEPT7_uc011kau.2_Silent_p.Y283Y|SEPT7_uc011kav.2_Silent_p.Y266Y NM_001788 NP_001779 Q16181 SEPT7_HUMAN Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA. 319 cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber GTP binding|protein binding|structural molecule activity p.Y320Y(3) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1) 14 CTGTGACTTATAATGGAGTTG 0.323000 26 3 0 0 0.004672 0 0 TAP1 6890 broad.mit.edu 37 6 32814931 32814931 + Missense_Mutation SNP C A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:32814931C>A uc003ocg.3 - 9 2289 c.2134G>T c.(2134-2136)Gcg>Tcg p.A712S PSMB8_uc003ocf.3_5'Flank|TAP1_uc011dqi.2_Missense_Mutation_p.A451S NM_000593 NP_000584 Q03518 TAP1_HUMAN Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA. 712 ABC transporter. antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity TAP complex|cytosol|plasma membrane ADP binding|ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1) 21 CGGGCCAACGCCACTGCCTGT 0.577000 95 29 3.57733e-08 5.03149e-08 0.001786 1 0 PNN 5411 broad.mit.edu 37 14 39645288 39645288 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:39645288C>T uc001wuw.4 + 1 217 c.120C>T c.(118-120)atC>atT p.I40I NM_002687 NP_002678 Q9H307 PININ_HUMAN Homo sapiens pinin, desmosome associated protein (PNN), mRNA. 40 Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) ACAGGCCCATCCAAGCCAGAT 0.423000 50 17 0 0 0.006122 0 0 GHRHR 2692 broad.mit.edu 37 7 31008693 31008693 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:31008693G>A uc003tbx.3 + 2 224 c.176G>A c.(175-177)tGg>tAg p.W59* GHRHR_uc003tby.3_5'Flank|GHRHR_uc003tbz.3_5'Flank NM_000823 NP_000814 Q02643 GHRHR_HUMAN Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA. 59 activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010) CCTGCGACCTGGGATGGGCTG 0.622000 11 5 0 0 0.000602 0 0 GRIA1 2890 broad.mit.edu 37 5 153085391 153085391 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:153085391C>T uc011dcy.2 + 10 1644 c.1617C>T c.(1615-1617)ttC>ttT p.F539F GRIA1_uc003lva.4_Silent_p.F529F|GRIA1_uc003luy.4_Silent_p.F529F|GRIA1_uc003luz.4_Silent_p.F434F|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.F449F|GRIA1_uc011dcx.2_Silent_p.F460F|GRIA1_uc011dcz.2_Silent_p.F539F|GRIA1_uc010jia.1_Silent_p.F509F NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 529 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CGGGTGTCTTCTCCTTCCTTG 0.443000 122 20 0 0 0.002299 0 0 AHCTF1 25909 broad.mit.edu 37 1 247063765 247063765 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:247063765G>A uc001ibv.2 - 8 1248 c.1151C>T c.(1150-1152)tCg>tTg p.S384L AHCTF1_uc009xgs.1_5'Flank NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA. 375 Necessary for cytoplasmic localization (By similarity). cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding p.S375L(1) NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) AGTGTCAGGCGATAGAGCTGG 0.328000 48 29 0 0 0.007291 0 0 ZBTB32 27033 broad.mit.edu 37 19 36205566 36205566 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:36205566G>A uc002oay.3 + 1 248 c.38G>A c.(37-39)gGc>gAc p.G13D ZBTB32_uc002oaz.3_Non-coding_Transcript NM_014383 NP_055198 Q9Y2Y4 ZBT32_HUMAN Homo sapiens zinc finger and BTB domain containing 32 (ZBTB32), mRNA. 13 DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGCCCCTATGGCTCTGATCGG 0.597000 82 53 0 0 0.003610 0 0 DSCAML1 57453 broad.mit.edu 37 11 117310610 117310611 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:117310610_117310611GG>AA uc001prh.1 - 21 4086_4087 c.4084_4085CC>TT c.(4084-4086)cct>TTt p.P1362F NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA. 1302 Ig-like C2-type 10. 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) TTTCATCCAAGGTGTTGTCACG 0.564000 99 50 0 0 0.004672 0 0 POTEC 388468 broad.mit.edu 37 18 14534953 14534953 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr18:14534953C>T uc010dln.3 - 3 1318 c.864G>A c.(862-864)gtG>gtA p.V288V POTEC_uc010xaj.2_Non-coding_Transcript NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA. 288 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TTAAAAATTTCACCACTTGCT 0.299000 62 10 0 0 0.001523 0 0 SAMD9 54809 broad.mit.edu 37 7 92731662 92731663 + Missense_Mutation DNP AG GA GA TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:92731662_92731663AG>GA uc003umf.3 - 2 4018_4019 c.3748_3749CT>TC c.(3748-3750)ctc>TCc p.L1250S SAMD9_uc003umg.3_Missense_Mutation_p.L1250S|SAMD9_uc022ahg.1_Missense_Mutation_p.L1250S NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 1250 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) ATAGTTTTTGAGGGCTAATTTA 0.277000 75 23 0 0 0.004672 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870087 151870087 + Silent SNP G A A rs79585035 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:151870087G>A uc022chf.1 + 0 777 c.777G>A c.(775-777)cgG>cgA p.R259R MAGEA6_uc004ffq.1_Silent_p.R259R|MAGEA6_uc004ffr.1_Silent_p.R259R NM_175868 NP_787064 P43360 MAGA6_HUMAN Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA. 259 MAGE. protein binding p.R259R(1)|p.R259Q(1) breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TGGAGTACCGGCAGGTCCCCG 0.522000 59 65 0 0 0.003610 0 0 GABRB3 2562 broad.mit.edu 37 15 26806142 26806142 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr15:26806142C>T uc001zbb.3 - 8 1288 c.1185G>A c.(1183-1185)caG>caA p.Q395Q GABRB3_uc021sgg.1_Silent_p.Q268Q|GABRB3_uc021sgh.1_Silent_p.Q254Q|GABRB3_uc001zaz.3_Silent_p.Q339Q|GABRB3_uc001zba.3_Silent_p.Q339Q NM_001191320 NP_001178249 P28472 GBRB3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA. 339 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CAAGCTTCTTCTGCCTTTGAG 0.507000 110 46 0 0 0.002222 0 0 COL6A5 256076 broad.mit.edu 37 3 130095535 130095535 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:130095535G>A uc010htj.1 + 2 1017 c.523G>A c.(523-525)Gaa>Aaa p.E175K COL6A5_uc010hti.1_Non-coding_Transcript NM_153264 NP_694996 A8TX70 CO6A5_HUMAN Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA. 175 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 AGCTTCTGAGGAAAATCTGAA 0.493000 14 3 0 0 0.004672 0 0 ANKMY1 51281 broad.mit.edu 37 2 241463384 241463384 + Silent SNP A G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:241463384A>G uc010fzd.1 - 7 1875 c.1750T>C c.(1750-1752)Ttg>Ctg p.L584L ANKMY1_uc002vzb.1_Silent_p.L256L|ANKMY1_uc002vzc.1_Silent_p.L354L|ANKMY1_uc002vyz.1_Silent_p.L495L|ANKMY1_uc002vza.1_Silent_p.L354L|ANKMY1_uc002vzd.1_Silent_p.L354L|ANKMY1_uc010fze.2_Silent_p.L164L|ANKMY1_uc002vze.3_Silent_p.L256L NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA. 495 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) ATCTTCAGCAAGCTGTGGGAC 0.597000 53 33 0 0 0.002445 0 0 FANCD2 2177 broad.mit.edu 37 3 10089610 10089610 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:10089610G>A uc003buw.3 + 15 1366 c.1288G>A c.(1288-1290)Gat>Aat p.D430N FANCD2_uc003bux.1_Missense_Mutation_p.D430N|FANCD2_uc003buy.1_Missense_Mutation_p.D430N|FANCD2_uc010hcw.1_5'Flank NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA. 430 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) GGTTCTTAAGGATATGTGTTC 0.398000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 313 35 0 0 0.002222 0 0 LRRC58 116064 broad.mit.edu 37 3 120054784 120054784 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:120054784G>A uc003edr.2 - 1 613 c.517C>T c.(517-519)Ctt>Ttt p.L173F NM_001099678 NP_001093148 Q96CX6 LRC58_HUMAN Homo sapiens leucine rich repeat containing 58 (LRRC58), mRNA. 173 large_intestine(2)|lung(5) 7 GBM - Glioblastoma multiforme(114;0.147) TTTCCTCCAAGATATAAACAC 0.313000 42 9 0 0 0.004482 0 0 OR4C12 283093 broad.mit.edu 37 11 50003119 50003119 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:50003119C>T uc010ria.2 - 0 953 c.919G>A c.(919-921)Gat>Aat p.D307N NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA. 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 TAATCATTATCTGAAGTCACT 0.373000 22 15 0 0 0.003163 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G T T rs121913254 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:115256530G>T uc009wgu.3 - 2 435 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|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 Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 138 60 3.86002e-21 5.5093e-21 0.003610 1 0 PCDHAC2 56134 broad.mit.edu 37 5 140235856 140235856 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:140235856G>A uc003lhx.2 + 0 223 c.223G>A c.(223-225)Gag>Aag p.E75K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.E75K|PCDHAC2_uc011dad.2_Missense_Mutation_p.E75K NM_018901 NP_061724 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA. 91 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACCTTCTGGAGGTAAATCT 0.617000 192 32 0 0 0.001786 0 0 NXPH2 11249 broad.mit.edu 37 2 139428990 139428990 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:139428990C>T uc002tvi.3 - 1 297 c.297G>A c.(295-297)cgG>cgA p.R99R NM_007226 NP_009157 O95156 NXPH2_HUMAN Homo sapiens neurexophilin 2 (NXPH2), mRNA. 99 III. neuropeptide signaling pathway extracellular region endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3) 22 BRCA - Breast invasive adenocarcinoma(221;0.101) CTATTGGCCTCCGTTTAGTTC 0.458000 73 26 0 0 0.003330 0 0 HMCN1 83872 broad.mit.edu 37 1 185970529 185970529 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:185970529C>T uc001grq.1 + 26 4398 c.4169C>T c.(4168-4170)cCc>cTc p.P1390L NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 1390 Ig-like C2-type 11. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ACTCCATCTCCCATCATTATG 0.388000 53 13 0 0 0.002450 0 0 DOCK9 23348 broad.mit.edu 37 13 99515291 99515291 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr13:99515291G>A uc001vnt.2 - 31 3619 c.3564C>T c.(3562-3564)ttC>ttT p.F1188F DOCK9_uc001vnw.2_Silent_p.F1187F|DOCK9_uc021rlw.1_Silent_p.F1187F|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Silent_p.F1188F|DOCK9_uc010tis.1_Silent_p.F1187F|DOCK9_uc010tit.1_Silent_p.F1188F|DOCK9_uc010tiq.1_Silent_p.F166F|DOCK9_uc010afu.1_Silent_p.F1034F NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA. 1188 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CGTTCACAGGGAAGGGTGACA 0.537000 14 3 0 0 0.000248 0 0 TBC1D29 26083 broad.mit.edu 37 17 28887652 28887652 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:28887652C>T uc002hfh.3 + 2 787 c.96C>T c.(94-96)acC>acT p.T32T TBC1D29_uc002hfi.3_Non-coding_Transcript|DQ578661_uc021tue.1_5'Flank|DQ575791_uc002hfj.1_5'Flank NM_015594 NP_056409 Q9UFV1 TBC29_HUMAN Homo sapiens TBC1 domain family, member 29 (TBC1D29), mRNA. 32 Rab-GAP TBC; truncated. intracellular Rab GTPase activator activity breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Myeloproliferative disorder(56;0.0255) TCGGGCTCACCCCGTGCCTGT 0.557000 66 23 0 0 0.002780 0 0 OR2F2 135948 broad.mit.edu 37 7 143633213 143633213 + Missense_Mutation SNP G C C TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:143633213G>C uc011ktv.2 + 0 888 c.888G>C c.(886-888)gaG>gaC p.E296D NM_001004685 NP_001004685 O95006 OR2F2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA. 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) GGAATAAAGAGGTGAAGGGGG 0.428000 61 21 0 0 0.001523 0 0 ANXA6 309 broad.mit.edu 37 5 150512090 150512090 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:150512090G>A uc003ltl.2 - 9 911 c.683C>T c.(682-684)gCc>gTc p.A228V ANXA6_uc011dcp.2_Missense_Mutation_p.A196V|ANXA6_uc003lto.2_Intron NM_001155 NP_001180473 P08133 ANXA6_HUMAN Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA. 228 melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding endometrium(2)|kidney(1)|lung(9) 12 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCGGATGCTGGCTTCAATCGG 0.542000 14 11 0 0 0.002450 0 0 ABLIM1 3983 broad.mit.edu 37 10 116225525 116225525 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:116225525G>A uc021pyx.1 - 11 1472 c.1373C>T c.(1372-1374)tCc>tTc p.S458F ABLIM1_uc021pyw.1_Missense_Mutation_p.S458F|ABLIM1_uc021pyy.1_Missense_Mutation_p.S426F|ABLIM1_uc021pyz.1_Missense_Mutation_p.S392F|ABLIM1_uc021pza.1_Missense_Mutation_p.S398F|ABLIM1_uc021pze.1_Missense_Mutation_p.S382F|ABLIM1_uc021pzf.1_Missense_Mutation_p.S420F|ABLIM1_uc021pyv.1_Missense_Mutation_p.S163F|ABLIM1_uc021pzb.1_Missense_Mutation_p.S135F|ABLIM1_uc021pzc.1_Missense_Mutation_p.S109F|ABLIM1_uc021pzd.1_Missense_Mutation_p.S306F|ABLIM1_uc021pyu.1_Missense_Mutation_p.S170F NM_002313 NP_002304 O14639 ABLM1_HUMAN Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA. 458 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) GTACACAGGGGAGTTGATGGA 0.547000 134 30 0 0 0.001786 0 0 NLRP13 126204 broad.mit.edu 37 19 56443675 56443675 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:56443675C>T uc010ygg.2 - 0 28 c.3G>A c.(1-3)atG>atA p.M1I NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 1 DAPIN. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CAGAAAAGTTCATCTTGCCCA 0.478000 32 40 0 0 0.007835 0 0 PIK3R6 146850 broad.mit.edu 37 17 8739899 8739899 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:8739899C>T uc002glq.1 - 6 666 c.426G>A c.(424-426)caG>caA p.Q142Q PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript NM_001010855 NP_001010855 Q5UE93 PI3R6_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA. 142 platelet activation cytosol TCGTCAAGTTCTGTTCGGCAA 0.507000 40 21 0 0 0.003330 0 0 OR4K2 390431 broad.mit.edu 37 14 20344665 20344665 + Missense_Mutation SNP A T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:20344665A>T uc001vwh.1 + 0 239 c.239A>T c.(238-240)aAg>aTg p.K80M NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA. 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K80N(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCCACCCCAAAGATGATTACA 0.413000 137 56 0 0 0.003610 0 0 PMS2P3 5387 broad.mit.edu 37 7 75155272 75155272 + RNA SNP C A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:75155272C>A uc022agi.1 - 1 c.580G>T PMS2P3_uc003udq.3_Non-coding_Transcript|PMS2P3_uc022agj.1_Non-coding_Transcript Homo sapiens postmeiotic segregation increased 2 pseudogene 3 (PMS2P3), non-coding RNA. lung(1) 1 TGGAAACATGCAGAGACTGTG 0.453000 40 19 0.00074312 0.00103591 0.006122 1 0 RBL1 5933 broad.mit.edu 37 20 35663762 35663762 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr20:35663762G>A uc002xgi.3 - 14 2132 c.2053C>T c.(2053-2055)Cct>Tct p.P685S RBL1_uc002xgj.1_Missense_Mutation_p.P685S NM_002895 NP_002886 P28749 RBL1_HUMAN Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA. 685 Pocket; binds T and E1A.|Spacer. cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) CTTGAAGAAGGAGCGATTTTC 0.423000 60 23 0 0 0.004656 0 0 TNFRSF17 608 broad.mit.edu 37 16 12059218 12059218 + Missense_Mutation SNP T A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:12059218T>A uc002dbv.3 + 0 255 c.37T>A c.(37-39)Tat>Aat p.Y13N TNFRSF17_uc010buy.3_Missense_Mutation_p.Y13N|TNFRSF17_uc010buz.3_Missense_Mutation_p.Y13N NM_001192 NP_001183 Q02223 TNR17_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 17 (TNFRSF17), mRNA. 13 cell proliferation|multicellular organismal development endomembrane system|integral to membrane|plasma membrane large_intestine(3)|lung(3) 6 CCAAAATGAATATTTTGACAG 0.398000 T IL2 intestinal T-cell lymphoma 162 5 0 0 0.001168 0 0 FAT1 2195 broad.mit.edu 37 4 187535406 187535406 + Silent SNP A C C TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:187535406A>C uc003izf.3 - 11 9356 c.9168T>G c.(9166-9168)gcT>gcG p.A3056A NM_005245 NP_005236 Q14517 FAT1_HUMAN Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA. 3056 Cadherin 28. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 AAGTAATTTCAGCGTTAGAGC 0.393000 HNSCC(5;0.00058) 149 29 0 0 0.008361 0 0 ADAM29 11086 broad.mit.edu 37 4 175897020 175897020 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:175897020C>T uc003iuc.3 + 4 1014 c.344C>T c.(343-345)tCc>tTc p.S115F ADAM29_uc003iud.3_Missense_Mutation_p.S115F|ADAM29_uc010irr.3_Missense_Mutation_p.S115F|ADAM29_uc011cki.2_Missense_Mutation_p.S115F|ADAM29_uc021xuo.1_Missense_Mutation_p.S115F NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA. 115 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.S115F(4) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TCCCTGGTTTCCCTCAGTACC 0.443000 63 19 0 0 0.002299 0 0 DSCR6 53820 broad.mit.edu 37 21 38390367 38390367 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr21:38390367G>A uc002yvv.3 + 3 643 c.433G>A c.(433-435)Gaa>Aaa p.E145K DSCR6_uc011aec.2_Silent_p.R31R|DSCR6_uc010gnd.3_Silent_p.R31R NM_018962 NP_061835 P57055 DSCR6_HUMAN Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA. 145 nucleus NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1) 8 Myeloproliferative disorder(46;0.0632) AGGTCGGCAGGAAAATGGCCC 0.632000 25 14 0 0 0.001855 0 0 COL11A2 1302 broad.mit.edu 37 6 33156871 33156871 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:33156871G>A uc003ocx.1 - 2 555 c.327C>T c.(325-327)gtC>gtT p.V109V COL11A2_uc003ocy.1_Silent_p.V109V|COL11A2_uc003ocz.1_Silent_p.V109V|COL11A2_uc003oda.3_Silent_p.V109V NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 109 TSP N-terminal. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCAGCTGTCGGACACCCTGGG 0.607000 122 29 0 0 0.002096 0 0 NUAK2 81788 broad.mit.edu 37 1 205272734 205272734 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:205272734G>A uc001hce.3 - 6 1858 c.1731C>T c.(1729-1731)ctC>ctT p.L577L NM_030952 NP_112214 Q9H093 NUAK2_HUMAN Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA. 577 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) CAAGCCCCGTGAGGTTGTCCA 0.647000 64 29 0 0 0.007291 0 0 IL36G 56300 broad.mit.edu 37 2 113742458 113742458 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:113742458G>A uc002tio.1 + 4 411 c.342G>A c.(340-342)gtG>gtA p.V114V IL36G_uc010fkr.1_Silent_p.V79V NM_019618 NP_062564 Q9NZH8 IL36G_HUMAN Homo sapiens interleukin 36, gamma (IL36G), mRNA. 114 cell-cell signaling extracellular space cytokine activity|interleukin-1 receptor antagonist activity p.P113P(1) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 CCGAGCCCGTGAAACCCTTCC 0.512000 137 59 0 0 0.003610 0 0 HLA-DMA 3108 broad.mit.edu 37 6 32918341 32918341 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:32918341G>A uc003ocm.2 - 1 414 c.328C>T c.(328-330)Cag>Tag p.Q110* HLA-DMA_uc011dqm.1_Nonsense_Mutation_p.Q110* NM_006120 NP_006111 Q31604 Q31604_HUMAN Homo sapiens major histocompatibility complex, class II, DM alpha (HLA-DMA), mRNA. 110 MHC class II protein complex|integral to membrane kidney(1)|large_intestine(2)|lung(8) 11 CCTATTTGCTGGATCATCCAC 0.522000 169 171 0 0 0.003610 0 0 GALNT2 2590 broad.mit.edu 37 1 230381829 230381829 + Silent SNP A G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:230381829A>G uc010pwa.1 + 7 822 c.750A>G c.(748-750)tcA>tcG p.S250S GALNT2_uc010pvy.1_Silent_p.S212S|GALNT2_uc010pvz.1_Non-coding_Transcript NM_004481 NP_004472 Q10471 GALT2_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA. 250 immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) GGGTTGTGTCACCCATCATCG 0.463000 105 35 0 0 0.002522 0 0 AXDND1 126859 broad.mit.edu 37 1 179363135 179363135 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:179363135G>A uc001gmo.3 + 9 1348 c.961G>A c.(961-963)Gaa>Aaa p.E321K AXDND1_uc001gmn.2_Missense_Mutation_p.E109K|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.E279K NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA. 321 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 GCGCATTTTAGAAGAATTGTA 0.378000 100 32 0 0 0.002096 0 0 KRTAP10-8 386681 broad.mit.edu 37 21 46032202 46032203 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr21:46032202_46032203CC>TT uc002zfo.1 + 0 207_208 c.185_186CC>TT c.(184-186)acc>aTT p.T62I TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198695 NP_941968 P60410 KR108_HUMAN Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA. 62 19 X 5 AA repeats of C-C-X(3). keratin filament breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 17 AGCTGCTGTACCCCTAGCTGCT 0.673000 37 16 0 0 0.004672 0 0 CDHR3 222256 broad.mit.edu 37 7 105662830 105662830 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:105662830G>A uc003vdl.4 + 13 2120 c.2012G>A c.(2011-2013)gGa>gAa p.G671E CDHR3_uc003vdk.3_Intron|CDHR3_uc003vdm.4_Missense_Mutation_p.G658E|CDHR3_uc011klt.2_Missense_Mutation_p.G583E|CDHR3_uc003vdn.3_Intron NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN Homo sapiens cadherin-related family member 3 (CDHR3), mRNA. 671 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 GTTGAGACAGGAACAGTGACA 0.488000 130 56 0 0 0.003610 0 0 INSRR 3645 broad.mit.edu 37 1 156816462 156816462 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:156816462G>A uc010pht.2 - 7 1958 c.1659C>T c.(1657-1659)agC>agT p.S553S NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN Homo sapiens insulin receptor-related receptor (INSRR), mRNA. 553 Fibronectin type-III 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCTGGGTGCGGCTTAGGGGCA 0.612000 51 22 0 0 0.001882 0 0 GPR124 25960 broad.mit.edu 37 8 37691640 37691640 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:37691640C>T uc003xkj.3 + 10 1988 c.1602C>T c.(1600-1602)atC>atT p.I534I GPR124_uc010lvy.3_Silent_p.I534I NM_032777 NP_116166 Q96PE1 GP124_HUMAN Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA. 534 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) CCCAGCACATCTCAGTGGTAA 0.697000 36 12 0 0 0.001855 0 0 CCDC146 57639 broad.mit.edu 37 7 76924064 76924064 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:76924064G>A uc003uga.3 + 18 2876 c.2749G>A c.(2749-2751)Gca>Aca p.A917T CCDC146_uc010ldp.3_Missense_Mutation_p.A631T|CCDC146_uc003ugc.3_Missense_Mutation_p.A254T NM_020879 NP_065930 Q8IYE0 CC146_HUMAN Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA. 917 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) CATCCCAGAAGCAGATGCCAC 0.468000 51 12 0 0 0.001855 0 0 OR2G2 81470 broad.mit.edu 37 1 247752184 247752184 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:247752184C>T uc010pyy.2 + 0 523 c.523C>T c.(523-525)Cgc>Tgc p.R175C NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA. 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R175C(2) endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CTGTGGGCATCGCCAAGTGGA 0.557000 135 41 0 0 0.006230 0 0 NDUFB4 4710 broad.mit.edu 37 3 120315215 120315215 + Silent SNP C T T rs139409401 byFrequency TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:120315215C>T uc003edu.3 + 0 88 c.9C>T c.(7-9)ttC>ttT p.F3F NDUFB4_uc003edt.3_Silent_p.F3F NM_004547 NP_004538 O95168 NDUB4_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa (NDUFB4), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 3 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(1)|large_intestine(1)|lung(3) 5 GBM - Glioblastoma multiforme(114;0.14) NADH(DB00157) AGATGTCGTTCCCAAAGTATA 0.597000 26 8 0 0 0.000978 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69097035 69097035 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:69097035G>A uc003hdw.4 - 6 708 c.572C>T c.(571-573)tCc>tTc p.S191F NM_182502 NP_872308 Q86T26 TM11B_HUMAN Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA. 191 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 CCCCTCCAGGGAGCTTTTTCC 0.493000 47 28 0 0 0.008361 0 0 RGS9 8787 broad.mit.edu 37 17 63206615 63206616 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:63206615_63206616CC>TT uc002jfe.3 + 16 1502_1503 c.1299_1300CC>TT c.(1297-1302)ctccct>ctTTct p.P434S RGS9_uc021ubw.1_Missense_Mutation_p.P431S|RGS9_uc010dem.3_Missense_Mutation_p.P431S|RGS9_uc002jfd.3_Missense_Mutation_p.P431S|RGS9_uc002jfg.3_Missense_Mutation_p.P205S NM_003835 NP_003826 O75916 RGS9_HUMAN Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA. 434 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 GCTCCACCCTCCCTTTTATGCG 0.574000 93 28 0 0 0.004672 0 0 ARSH 347527 broad.mit.edu 37 X 2951252 2951252 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:2951252C>T uc011mhj.2 + 8 1515 c.1515C>T c.(1513-1515)tcC>tcT p.S505S NM_001011719 NP_001011719 Q5FYA8 ARSH_HUMAN Homo sapiens arylsulfatase family, member H (ARSH), mRNA. 505 integral to membrane arylsulfatase activity|metal ion binding breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1) 34 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TATTTGACTCCGTGATCAAAA 0.488000 7 13 0 0 0.001855 0 0 EEF2K 29904 broad.mit.edu 37 16 22269960 22269960 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:22269960C>T uc002dki.3 + 9 1660 c.1175C>T c.(1174-1176)tCt>tTt p.S392F EEF2K_uc002dkh.3_Non-coding_Transcript NM_013302 NP_037434 O00418 EF2K_HUMAN Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA. 392 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) ACCTTCGACTCTCTCCCTTCT 0.597000 68 17 0 0 0.006122 0 0 LRR1 122769 broad.mit.edu 37 14 50074628 50074628 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:50074628C>T uc001wwn.3 + 2 1117 c.793C>T c.(793-795)Cct>Tct p.P265S NEMF_uc010anj.1_Intron|LRR1_uc010ank.3_Missense_Mutation_p.P206S|LRR1_uc001wwp.3_Non-coding_Transcript|LRR1_uc001wwo.3_Intron NM_152329 NP_689542 Q96L50 LLR1_HUMAN Homo sapiens leucine rich repeat protein 1 (LRR1), transcript variant 1, mRNA. 265 kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GATTCAATTTCCTTGCAAGAT 0.373000 43 16 0 0 0.003163 0 0 HYDIN 54768 broad.mit.edu 37 16 70989289 70989289 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:70989289C>T uc002ezr.3 - 39 6453 c.6302G>A c.(6301-6303)gGa>gAa p.G2101E NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 2102 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AGCCTCCTCTCCTTCCTTCAC 0.567000 55 13 0 0 0.004007 0 0 MYH9 4627 broad.mit.edu 37 22 36681727 36681727 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr22:36681727G>A uc003apg.3 - 36 5482 c.5251C>T c.(5251-5253)Cgg>Tgg p.R1751W NM_002473 NP_002464 P35579 MYH9_HUMAN Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA. 1751 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TTCTTCAGCCGGTCGTTGATC 0.667000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 35 12 0 0 0.001368 0 0 NMBR 4829 broad.mit.edu 37 6 142399800 142399800 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:142399800G>A uc003qiu.3 - 1 804 c.663C>T c.(661-663)ttC>ttT p.F221F NM_002511 NP_002502 P28336 NMBR_HUMAN Homo sapiens neuromedin B receptor (NMBR), mRNA. 221 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) GTGGTATGAGGAAATAGACCA 0.353000 47 28 0 0 0.004656 0 0 MARCH1 55016 broad.mit.edu 37 4 164534484 164534484 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:164534484G>A uc003iqs.2 - 4 406 c.224C>T c.(223-225)tCc>tTc p.S75F MARCH1_uc003iqr.2_Missense_Mutation_p.S58F NM_001166373 NP_001159845 Q8TCQ1 MARH1_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA. 75 antigen processing and presentation of peptide antigen via MHC class II|immune response Golgi apparatus|cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GTCCTGAGTGGATGGACAGAC 0.423000 70 29 0 0 0.003271 0 0 CELSR1 9620 broad.mit.edu 37 22 46930151 46930151 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr22:46930151G>A uc003bhw.1 - 0 2917 c.2917C>T c.(2917-2919)Cgg>Tgg p.R973W NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA. 973 Cadherin 7. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GGACTGCCCCGATCCACAGCC 0.582000 76 37 0 0 0.007835 0 0 CYP11B2 1585 broad.mit.edu 37 8 143996195 143996195 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:143996195C>T uc003yxk.1 - 3 728 c.725G>A c.(724-726)aGg>aAg p.R242K NM_000498 NP_000489 P19099 C11B2_HUMAN Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA. 242 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) AGACAGGCTCCTGGGCATGAA 0.612000 Familial Hyperaldosteronism type I 28 6 0 0 0.001168 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891276 18891277 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:18891276_18891277GG>AA uc001rdy.3 + 0 232_233 c.74_75GG>AA c.(73-75)ggg>gAA p.G25E PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank NM_033328 NP_201585 Q96KX2 CAZA3_HUMAN Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA. 25 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) GCCCCTCCAGGGGAATTTGTAA 0.460000 83 36 0 0 0.004672 0 0 C12orf74 338809 broad.mit.edu 37 12 93100576 93100576 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:93100576C>T uc001tch.2 + 1 620 c.169C>T c.(169-171)Cgt>Tgt p.R57C C12orf74_uc001tci.3_Missense_Mutation_p.R57C|C12orf74_uc021rbt.1_Missense_Mutation_p.R57C NM_001037671 NP_001032760 Q32Q52 CL074_HUMAN Homo sapiens chromosome 12 open reading frame 74 (C12orf74), transcript variant 2, mRNA. 57 kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 10 ATTAAGGACCCGTGGCTGTGG 0.622000 67 31 0 0 0.002445 0 0 TTN 7273 broad.mit.edu 37 2 179417166 179417166 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:179417166G>A uc021vsy.1 - 283 82982 c.82757C>T c.(82756-82758)cCt>cTt p.P27586L MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P21281L|TTN_uc021vta.1_Missense_Mutation_p.P21214L|TTN_uc021vtb.1_Missense_Mutation_p.P21089L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 28513 Fibronectin type-III 100. 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) TCCCTTATAAGGTAATTCAAG 0.403000 28 19 0 0 0.008871 0 0 MAML2 84441 broad.mit.edu 37 11 95712443 95712443 + Missense_Mutation SNP A G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:95712443A>G uc001pfw.1 - 4 4425 c.3140T>C c.(3139-3141)cTg>cCg p.L1047P NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA. 1047 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) TCTGAGATTCAGACCCCTGAG 0.498000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 37 15 0 0 0.004007 0 0 WIF1 11197 broad.mit.edu 37 12 65460471 65460471 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:65460471G>A uc001ssk.3 - 5 1055 c.680C>T c.(679-681)cCt>cTt p.P227L NM_007191 NP_009122 Q9Y5W5 WIF1_HUMAN Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA. 227 EGF-like 2. Wnt receptor signaling pathway|multicellular organismal development extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) GCAGAAACCAGGAGTCACACA 0.408000 T HMGA2 pleomorphic salivary gland adenoma 46 12 0 0 0.001368 0 0 SI 6476 broad.mit.edu 37 3 164714367 164714367 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:164714367C>T uc003fei.3 - 39 4711 c.4648G>A c.(4648-4650)Gca>Aca p.A1550T NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 1550 Sucrase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GGATAAAATGCTCCAAGTTGC 0.328000 HNSCC(35;0.089) 54 12 0 0 0.001368 0 0 CNR1 1268 broad.mit.edu 37 6 88854075 88854075 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:88854075G>A uc010kbz.3 - 1 1049 c.919C>T c.(919-921)Cgc>Tgc p.R307C CNR1_uc011dzr.2_Missense_Mutation_p.R307C|CNR1_uc011dzs.2_Missense_Mutation_p.R307C|CNR1_uc003pmq.4_Missense_Mutation_p.R307C|CNR1_uc011dzt.2_Missense_Mutation_p.R307C|CNR1_uc010kca.3_Missense_Mutation_p.R274C|CNR1_uc021zco.1_Missense_Mutation_p.R307C NM_016083 NP_057167 P21554 CNR1_HUMAN Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA. 307 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding p.R307C(2) breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) TGAATCATGCGGACGGCGTGG 0.547000 31 26 0 0 0.005443 0 0 ATAD1 84896 broad.mit.edu 37 10 89527456 89527456 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:89527456G>A uc001kez.1 - 7 1184 c.805C>T c.(805-807)Ctg>Ttg p.L269L ATAD1_uc010qmr.1_Silent_p.L181L|ATAD1_uc009xth.1_Non-coding_Transcript|ATAD1_uc001key.1_Silent_p.L269L NM_032810 NP_116199 Q8NBU5 ATAD1_HUMAN Homo sapiens ATPase family, AAA domain containing 1 (ATAD1), mRNA. 269 peroxisome ATP binding|nucleoside-triphosphatase activity kidney(1)|large_intestine(4)|lung(4)|ovary(1) 10 all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224) UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235) ATGAGTTTCAGGATTGCTTCT 0.259000 100 20 0 0 0.006320 0 0 ITGA1 3672 broad.mit.edu 37 5 52214623 52214623 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:52214623C>T uc003jou.3 + 15 2464 c.2050C>T c.(2050-2052)Caa>Taa p.Q684* ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Nonsense_Mutation_p.Q215* NM_181501 NP_852478 P56199 ITA1_HUMAN Homo sapiens integrin, alpha 1 (ITGA1), mRNA. 684 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) AGTGAATATTCAAAAGAAAAA 0.348000 43 7 0 0 0.004482 0 0 DCAF4L1 285429 broad.mit.edu 37 4 41984425 41984425 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:41984425C>T uc003gwk.2 + 0 713 c.616C>T c.(616-618)Cag>Tag p.Q206* NM_001029955 NP_001025126 Q3SXM0 DC4L1_HUMAN Homo sapiens DDB1 and CUL4 associated factor 4-like 1 (DCAF4L1), mRNA. 206 breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1) 37 AGGCTTGTCTCAGCAGGTCCT 0.577000 128 45 0 0 0.002852 0 0 TSPAN2 10100 broad.mit.edu 37 1 115615589 115615589 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:115615589G>A uc001eft.3 - 1 177 c.109C>T c.(109-111)Cgg>Tgg p.R37W TSPAN2_uc021osc.1_Missense_Mutation_p.R37W NM_005725 NP_005716 O60636 TSN2_HUMAN Homo sapiens tetraspanin 2 (TSPAN2), mRNA. 37 integral to membrane central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1) 10 Lung SC(450;0.211) all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) CCTCCGAACCGAAACCATAGT 0.507000 57 13 0 0 0.001855 0 0 MMP25 64386 broad.mit.edu 37 16 3108256 3108256 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:3108256G>A uc002cth.3 + 7 1318 c.1081G>A c.(1081-1083)Gag>Aag p.E361K BC045731_uc002ctj.1_Intron NM_022468 NP_071913 Q9NPA2 MMP25_HUMAN Homo sapiens matrix metallopeptidase 25 (MMP25), mRNA. 361 Hemopexin-like 1. inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 14 CCGCTTCTGGGAGGGGCTGCC 0.726000 36 14 0 0 0.004007 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147478 26147478 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:26147478G>A uc002dof.3 + 1 1672 c.1280G>A c.(1279-1281)aGa>aAa p.R427K NM_006040 NP_006031 Q9Y661 HS3S4_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA. 427 heparan sulfate proteoglycan metabolic process Golgi membrane|extracellular region|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) GTCATCCACAGACTGAGGAAA 0.473000 20 12 0 0 0.000978 0 0 SLC22A25 387601 broad.mit.edu 37 11 62933703 62933703 + Silent SNP G A A rs138188942 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:62933703G>A uc001nwr.1 - 6 1098 c.1098C>T c.(1096-1098)ggC>ggT p.G366G SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_3'UTR NM_199352 NP_955384 Q6T423 S22AP_HUMAN Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA. 366 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 GCAAAGTAAGGCCCCAAAAAG 0.448000 31 24 0 0 0.003954 0 0 USH2A 7399 broad.mit.edu 37 1 216462695 216462695 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:216462695G>A uc001hku.1 - 10 2285 c.1898C>T c.(1897-1899)tCg>tTg p.S633L USH2A_uc001hkv.3_Missense_Mutation_p.S633L NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 633 Laminin EGF-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATCTATGGCCGAAGGATCTGC 0.408000 HNSCC(13;0.011) 58 25 0 0 0.004656 0 0 OR51V1 283111 broad.mit.edu 37 11 5221142 5221142 + Silent SNP A G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:5221142A>G uc010qyz.2 - 0 789 c.789T>C c.(787-789)ccT>ccC p.P263P NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA. 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P263H(2) endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCTAATGATAGGGATGTAGA 0.478000 69 13 0 0 0.001368 0 0 RACGAP1P 83956 broad.mit.edu 37 12 45459020 45459020 + RNA SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:45459020C>T uc001rol.3 - 0 c.175G>A Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA. TTAAAGAAATCCTCAAAGTCC 0.448000 19 10 0 0 0.006214 0 0 SLC25A17 10478 broad.mit.edu 37 22 41173251 41173251 + Missense_Mutation SNP A T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr22:41173251A>T uc003azc.3 - 5 718 c.578T>A c.(577-579)cTt>cAt p.L193H SLC25A17_uc010gyg.3_Non-coding_Transcript|SLC25A17_uc011aou.2_Missense_Mutation_p.L156H|SLC25A17_uc003azd.3_Non-coding_Transcript|SLC25A17_uc011aov.2_Missense_Mutation_p.L120H NM_006358 NP_006349 O43808 PM34_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 (SLC25A17), nuclear gene encoding mitochondrial protein, mRNA. 193 fatty acid alpha-oxidation integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane adenine nucleotide transmembrane transporter activity|protein binding central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1) 8 TTTCTTTAAAAGCTGCCGTTT 0.383000 29 8 0 0 0.004482 0 0 SGMS1 259230 broad.mit.edu 37 10 52086980 52086980 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:52086980G>A uc001jje.3 - 7 1680 c.726C>T c.(724-726)ttC>ttT p.F242F SGMS1_uc010qhk.2_Silent_p.F73F|SGMS1_uc009xot.1_Non-coding_Transcript|SGMS1_uc021pqq.1_Silent_p.F242F|SGMS1_uc021pqr.1_Non-coding_Transcript|SGMS1_uc021pqn.1_Intron|SGMS1_uc021pqo.1_Intron|SGMS1_uc021pqp.1_Non-coding_Transcript NM_147156 NP_671512 Q86VZ5 SMS1_HUMAN Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA. 248 apoptosis|cell growth|sphingomyelin biosynthetic process Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 GAGAACAGTTGAAATGCATAC 0.423000 43 11 0 0 0.000978 0 0 PDZD8 118987 broad.mit.edu 37 10 119049715 119049715 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:119049715G>A uc001lde.1 - 3 1442 c.1243C>T c.(1243-1245)Cga>Tga p.R415* NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN Homo sapiens PDZ domain containing 8 (PDZD8), mRNA. 415 PDZ. intracellular signal transduction metal ion binding p.R415*(2) kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) GCGATAAGTCGATCTCCCCGC 0.428000 69 25 0 0 0.004656 0 0 TRRAP 8295 broad.mit.edu 37 7 98509802 98509802 + Missense_Mutation SNP C T T rs147405090 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:98509802C>T uc003upp.3 + 17 2374 c.2165C>T c.(2164-2166)tCc>tTc p.S722F TRRAP_uc011kis.2_Missense_Mutation_p.S722F|TRRAP_uc003upr.3_Missense_Mutation_p.S414F NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 722 histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity p.S722F(15) NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GGCTCTGTCTCCCTCTTTGCA 0.463000 84 39 0 0 0.007835 0 0 OR52L1 338751 broad.mit.edu 37 11 6007836 6007836 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:6007836C>T uc001mcd.2 - 0 380 c.325G>A c.(325-327)Gag>Aag p.E109K NM_001005173 NP_001005173 Q8NGH7 O52L1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA. 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E94K(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TACCCAATCTCGTGGGCATGA 0.537000 16 9 0 0 0.008291 0 0 CSF2RA 1438 broad.mit.edu 37 X 1422865 1422865 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:1422865C>T uc010nct.2 + 11 1318 c.996C>T c.(994-996)atC>atT p.I332I CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Silent_p.I332I|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Silent_p.I332I|CSF2RA_uc004cpo.2_Silent_p.I332I|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Silent_p.I199I|CSF2RA_uc004cpp.2_Intron|CSF2RA_uc010ncv.2_Silent_p.I366I|CSF2RA_uc004cpr.2_Intron NM_001161529 NP_001155004 P15509 CSF2R_HUMAN Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA. 332 extracellular region|integral to plasma membrane cytokine receptor activity p.I332I(3) central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 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) Sargramostim(DB00020) TGCTCCTAATCGTGGGAACCC 0.547000 319 160 0 0 0.003610 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21446932 21446932 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:21446932G>A uc001rer.3 - 9 1635 c.1384C>T c.(1384-1386)Ctg>Ttg p.L462L SLCO1A2_uc010siq.2_Silent_p.L330L|SLCO1A2_uc001res.3_Silent_p.L462L|SLCO1A2_uc010sio.2_Silent_p.L330L|SLCO1A2_uc010sip.2_Silent_p.L330L|SLCO1A2_uc001ret.3_Silent_p.L460L NM_021094 NP_602307 P46721 SO1A2_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA. 462 Kazal-like. bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity p.L462L(2) breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 CAAGCTGACAGATATGACAAG 0.388000 22 11 0 0 0.001855 0 0 OR52N4 390072 broad.mit.edu 37 11 5776576 5776576 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:5776576G>A uc001mbu.3 + 0 654 c.606G>A c.(604-606)ctG>ctA p.L202L TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA. 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) TCTATGGTCTGATGGTTGCCC 0.493000 78 15 0 0 0.004007 0 0 PCNT 5116 broad.mit.edu 37 21 47831639 47831639 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr21:47831639G>A uc002zji.4 + 27 5759 c.5652G>A c.(5650-5652)aaG>aaA p.K1884K PCNT_uc002zjj.3_Silent_p.K1766K NM_006031 NP_006022 O95613 PCNT_HUMAN Homo sapiens pericentrin (PCNT), mRNA. 1884 G2/M transition of mitotic cell cycle|cilium assembly cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) ACCAGCGGAAGGCGGCCCACT 0.667000 38 9 0 0 0.004482 0 0 CD5L 922 broad.mit.edu 37 1 157809178 157809178 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:157809178G>A uc001frk.4 - 1 194 c.51C>T c.(49-51)ttC>ttT p.F17F NM_005894 NP_005885 O43866 CD5L_HUMAN Homo sapiens CD5 molecule-like (CD5L), mRNA. 17 apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TCTTACCTAGGAATCCAGGTC 0.443000 85 31 0 0 0.006230 0 0 CLCN1 1180 broad.mit.edu 37 7 143048886 143048886 + Missense_Mutation SNP C T T rs80356706 byFrequency TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:143048886C>T uc003wcr.1 + 22 2882 c.2795C>T c.(2794-2796)cCa>cTa p.P932L CLCN1_uc011ktc.1_Missense_Mutation_p.P544L NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 932 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) ACCCCTGTGCCATCTCCTTCC 0.637000 35 8 0 0 0.004482 0 0 LGALS9B 284194 broad.mit.edu 37 17 20361578 20361578 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:20361578G>A uc002gxa.1 - 2 316 c.251C>T c.(250-252)cCc>cTc p.P84L LGALS9B_uc002gwz.1_Missense_Mutation_p.P84L|LGALS9B_uc010vzh.1_5'UTR NM_001042685 NP_001036150 Q3B8N2 LEG9B_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 9B (LGALS9B), mRNA. 84 Beta-galactoside binding 1 (By similarity).|Galectin 1. sugar binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 10 CCTCTCCTCGGGCCCCCATCT 0.552000 69 36 0 0 0.006999 0 0 SGMS1 259230 broad.mit.edu 37 10 52103795 52103795 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:52103795G>A uc001jje.3 - 6 1034 c.80C>T c.(79-81)cCt>cTt p.P27L SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.P27L|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.P27L|SGMS1_uc021pqo.1_Missense_Mutation_p.P27L|SGMS1_uc021pqp.1_Non-coding_Transcript NM_147156 NP_671512 Q86VZ5 SMS1_HUMAN Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA. 33 SAM. apoptosis|cell growth|sphingomyelin biosynthetic process Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 ATGCTCCAGAGGCTCACAGTA 0.522000 71 27 0 0 0.003954 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73149274 73149274 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:73149274G>A uc003hgk.2 - 21 3234 c.3197C>T c.(3196-3198)gCt>gTt p.A1066V NM_014243 NP_055058 O15072 ATS3_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA. 1066 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ATGAGTTTCAGCAGCTTCTAG 0.473000 93 51 0 0 0.003610 0 0 FAM129A 116496 broad.mit.edu 37 1 184765070 184765071 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:184765070_184765071CC>TT uc001gra.3 - 13 2021_2022 c.1827_1828GG>AA c.(1825-1830)ctgggt>ctAAgt p.G610S FAM129A_uc001grb.1_Missense_Mutation_p.G373S NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA. 610 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane p.L609L(2) autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 GTCTCACTACCCAGAACTCCTG 0.550000 102 32 0 0 0.004672 0 0 FILIP1 27145 broad.mit.edu 37 6 76063410 76063410 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:76063410C>T uc010kbe.3 - 4 1013 c.483G>A c.(481-483)caG>caA p.Q161Q FILIP1_uc003phy.1_Silent_p.Q158Q|FILIP1_uc003phz.3_Silent_p.Q59Q|FILIP1_uc003pia.3_Silent_p.Q158Q NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 158 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 AGGTTTCTTTCTGTTTTTCCT 0.438000 61 55 0 0 0.003610 0 0 PGK2 5232 broad.mit.edu 37 6 49753703 49753703 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:49753703G>A uc003ozu.3 - 0 1351 c.1198C>T c.(1198-1200)Cta>Tta p.L400L NM_138733 NP_620061 P07205 PGK2_HUMAN Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA. 400 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) AGAAGCTCTAGACTGGCACCG 0.478000 96 43 0 0 0.002522 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768484 77768484 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:77768484C>T uc003yau.2 + 9 9714 c.9327C>T c.(9325-9327)ctC>ctT p.L3109L ZFHX4_uc003yaw.1_Silent_p.L3064L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 3064 Pro-rich. 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) CAGTCCTTCTCCCCGGAATGA 0.527000 HNSCC(33;0.089) 38 19 0 0 0.008871 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140236503 140236503 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:140236503G>A uc003lhx.2 + 0 870 c.870G>A c.(868-870)agG>agA p.R290R PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Silent_p.R290R|PCDHAC2_uc011dad.2_Silent_p.R290R NM_018901 NP_061724 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA. 306 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGATAAGAAGGAAATTTTGGA 0.353000 45 20 0 0 0.001523 0 0 HPSE 10855 broad.mit.edu 37 4 84230557 84230557 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:84230557G>A uc003hoj.4 - 6 1081 c.982C>T c.(982-984)Cag>Tag p.Q328* HPSE_uc003hoi.3_Nonsense_Mutation_p.Q270*|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Nonsense_Mutation_p.Q71*|HPSE_uc003hok.4_Nonsense_Mutation_p.Q328*|HPSE_uc011cct.2_Nonsense_Mutation_p.Q328* NM_001098540 NP_006656 Q9Y251 HPSE_HUMAN Homo sapiens heparanase (HPSE), transcript variant 2, mRNA. 328 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 20 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) ACTATTACCTGGAAAACTTTT 0.289000 38 6 0 0 0.001984 0 0 P2RX5 5026 broad.mit.edu 37 17 3594945 3594945 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:3594945G>A uc002fwi.3 - 1 680 c.281C>T c.(280-282)cCa>cTa p.P94L P2RX5_uc002fwd.3_Non-coding_Transcript|P2RX5_uc010vrx.2_Missense_Mutation_p.P58L|P2RX5_uc002fwk.3_Missense_Mutation_p.P94L|P2RX5_uc002fwj.3_Missense_Mutation_p.P94L|P2RX5_uc002fwl.3_Missense_Mutation_p.P94L|P2RX5_uc002fwm.2_Missense_Mutation_p.P94L NM_002561 NP_002552 Q93086 P2RX5_HUMAN Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5), transcript variant 1, mRNA. 94 nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 11 GACCTGGGCTGGAATGACGTA 0.617000 48 27 0 0 0.006320 0 0 ERAP2 64167 broad.mit.edu 37 5 96215612 96215612 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:96215612C>T uc003kmq.3 + 1 933 c.223C>T c.(223-225)Cct>Tct p.P75S ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Missense_Mutation_p.P75S|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Missense_Mutation_p.P69S|ERAP2_uc003kmu.3_Non-coding_Transcript NM_022350 NP_071745 Q6P179 ERAP2_HUMAN Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA. 75 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) TGTGGTCATTCCTCTCCATTA 0.488000 37 7 0 0 0.003080 0 0 EIF3L 51386 broad.mit.edu 37 22 38273723 38273723 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr22:38273723G>A uc003auf.3 + 10 1198 c.1120G>A c.(1120-1122)Gcc>Acc p.A374T EIF3L_uc011ann.2_Missense_Mutation_p.A326T|EIF3L_uc003aug.3_Missense_Mutation_p.A266T NM_016091 NP_057175 Q9Y262 EIF3L_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA. 374 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GCTGGCCATTGCCCTCACGAT 0.542000 93 34 0 0 0.005524 0 0 GRM7 2917 broad.mit.edu 37 3 7348256 7348256 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:7348256G>A uc003bqm.2 + 3 1224 c.950G>A c.(949-951)gGa>gAa p.G317E GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.G317E|GRM7_uc003bql.2_Missense_Mutation_p.G317E|GRM7_uc003bqn.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 317 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GACAGCTGGGGATCCAAAATA 0.493000 77 30 0 0 0.002445 0 0 MAFK 7975 broad.mit.edu 37 7 1579891 1579891 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:1579891C>T uc003skr.3 + 2 562 c.351C>T c.(349-351)ttC>ttT p.F117F MAFK_uc003sks.1_Non-coding_Transcript NM_002360 NP_002351 O60675 MAFK_HUMAN Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog K (avian) (MAFK), mRNA. 117 blood coagulation nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15) TGCAGACCTTCGCGCGCACCG 0.677000 15 8 0 0 0.004482 0 0 SLC22A6 9356 broad.mit.edu 37 11 62747383 62747383 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:62747383C>T uc001nwk.3 - 6 1408 c.1075G>A c.(1075-1077)Gac>Aac p.D359N SLC22A6_uc001nwl.3_Missense_Mutation_p.D359N|SLC22A6_uc001nwj.3_Missense_Mutation_p.D359N|SLC22A6_uc001nwm.3_Missense_Mutation_p.D359N NM_004790 NP_004781 Q4U2R8 S22A6_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA. 359 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CCCTGCAGGTCCATGACCAGC 0.507000 48 9 0 0 0.001368 0 0 NIPAL2 79815 broad.mit.edu 37 8 99208229 99208229 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:99208229G>A uc003yim.1 - 8 1141 c.885C>T c.(883-885)atC>atT p.I295I NIPAL2_uc011lgw.1_Silent_p.I91I|NIPAL2_uc003yil.1_Silent_p.I295I Q9H841 NPAL2_HUMAN Homo sapiens NIPA-like domain containing 2 (NIPAL2), mRNA. 295 integral to membrane cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1) 12 GATAAAATATGATACCTGTAA 0.269000 26 13 0 0 0.001855 0 0 CBLC 23624 broad.mit.edu 37 19 45281419 45281419 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:45281419G>A uc002ozs.3 + 0 294 c.231G>A c.(229-231)ggG>ggA p.G77G CBLC_uc010ejt.3_Silent_p.G77G NM_012116 NP_036248 Q9ULV8 CBLC_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA. 77 4H.|Cbl-PTB. cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) gcggcTCTGGGGACTTTCTAC 0.716000 M AML 74 69 0 0 0.003610 0 0 PCLO 27445 broad.mit.edu 37 7 82784281 82784281 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:82784281C>T uc003uhx.2 - 1 1965 c.1676G>A c.(1675-1677)aGc>aAc p.S559N PCLO_uc003uhv.2_Missense_Mutation_p.S559N NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 505 Pro-rich. 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 TCCTGTTTGGCTTACTGGTTT 0.517000 341 149 0 0 0.003610 0 0 P2RX7 5027 broad.mit.edu 37 12 121614989 121614989 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:121614989G>A uc001tzm.3 + 9 1164 c.1012G>A c.(1012-1014)Ggc>Agc p.G338S P2RX7_uc001tzn.3_Missense_Mutation_p.G248S|P2RX7_uc001tzo.3_Non-coding_Transcript|P2RX7_uc001tzp.3_Missense_Mutation_p.G49S|P2RX7_uc001tzq.3_Missense_Mutation_p.G168S NM_002562 NP_002553 A8K2Z0 A8K2Z0_HUMAN Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7 (P2RX7), transcript variant 1, mRNA. 338 integral to membrane ATP binding|ion channel activity|receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGTGTACATCGGCTCAACCCT 0.443000 512 192 0 0 0.003610 0 0 AOX1 316 broad.mit.edu 37 2 201467038 201467038 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:201467038C>T uc002uvx.3 + 5 569 c.468C>T c.(466-468)ccC>ccT p.P156P NM_001159 NP_001150 Q06278 ADO_HUMAN Homo sapiens aldehyde oxidase 1 (AOX1), mRNA. 156 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GATACAGGCCCATAATTGATG 0.453000 117 45 0 0 0.003610 0 0 CHERP 10523 broad.mit.edu 37 19 16643489 16643489 + Silent SNP C T T rs1043447 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:16643489C>T uc002nei.1 - 4 668 c.594G>A c.(592-594)cgG>cgA p.R198R MED26_uc002nee.2_Intron|CHERP_uc002nej.3_Silent_p.R166R NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA. 198 CID. RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 TGATGCGGTTCCGGAGGTGGC 0.627000 34 25 0 0 0.002096 0 0 UGT2B11 10720 broad.mit.edu 37 4 70066197 70066197 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:70066197C>T uc003heh.3 - 5 1560 c.1551G>A c.(1549-1551)tgG>tgA p.W517* AK124272_uc003hei.1_Non-coding_Transcript NM_001073 NP_001064 O75310 UDB11_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA. 517 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TAGCAAACTTCCAGAAACAAA 0.403000 64 25 0 0 0.006320 0 0 AJAP1 55966 broad.mit.edu 37 1 4772197 4772197 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:4772197C>T uc001alm.1 + 1 648 c.267C>T c.(265-267)atC>atT p.I89I AJAP1_uc001aln.3_Silent_p.I89I NM_001042478 NP_061324 Q9UKB5 AJAP1_HUMAN Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA. 89 cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) TGGAGCGGATCCACGGGCAGA 0.761000 15 6 0 0 0.001168 0 0 ARMC4 55130 broad.mit.edu 37 10 28276346 28276346 + Silent SNP C T T rs146041171 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:28276346C>T uc009xky.3 - 2 449 c.351G>A c.(349-351)ggG>ggA p.G117G ARMC4_uc001itz.3_Silent_p.G117G NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 117 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 CCTTCAACTTCCCAGTTTTGG 0.413000 50 14 0 0 0.004990 0 0 MLL3 58508 broad.mit.edu 37 7 151835979 151835979 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:151835979G>A uc003wla.3 - 57 14764 c.14545C>T c.(14545-14547)Cat>Tat p.H4849Y MLL3_uc003wkz.3_Missense_Mutation_p.H3963Y|MLL3_uc003wkx.3_Missense_Mutation_p.H1007Y|MLL3_uc003wky.3_Missense_Mutation_p.H2409Y NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 4849 S-adenosyl-L-methionine binding (By similarity).|SET. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding p.N4848S(1) NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GCACACGAATGGTTGATATAC 0.403000 N medulloblastoma 101 34 0 0 0.004289 0 0 SPRR1B 6699 broad.mit.edu 37 1 153004903 153004903 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:153004903C>T uc001fba.3 + 1 146 c.82C>T c.(82-84)Cca>Tca p.P28S SPRR1B_uc021ozp.1_Missense_Mutation_p.P28S NM_003125 NP_003116 P22528 SPR1B_HUMAN Homo sapiens small proline-rich protein 1B (SPRR1B), mRNA. 28 2 X 12 AA approximate repeats. keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2) 9 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TTGCCAGCCTCCACCTCAGGA 0.627000 140 40 0 0 0.003214 0 0 TMEM132D 121256 broad.mit.edu 37 12 129566350 129566350 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:129566350C>T uc009zyl.1 - 6 2205 c.1877G>A c.(1876-1878)gGc>gAc p.G626D TMEM132D_uc001uia.2_Missense_Mutation_p.G164D NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 626 integral to membrane p.Q625K(1) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GATCTGTCCGCCTTGCAGCTT 0.522000 42 27 0 0 0.001786 0 0 CDH18 1016 broad.mit.edu 37 5 19747341 19747341 + Missense_Mutation SNP T G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:19747341T>G uc003jgd.3 - 3 767 c.233A>C c.(232-234)cAc>cCc p.H78P CDH18_uc011cnm.2_Missense_Mutation_p.H78P|CDH18_uc003jgc.3_Missense_Mutation_p.H78P|CDH18_uc021xwu.1_Missense_Mutation_p.H78P NM_004934 NP_004925 Q13634 CAD18_HUMAN Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA. 78 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) AGAATTGGAGTGCAGCTGTGA 0.383000 37 19 0 0 0.007413 0 0 SERPINA12 145264 broad.mit.edu 37 14 94964660 94964660 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:94964660G>A uc001ydj.3 - 2 871 c.75C>T c.(73-75)ttC>ttT p.F25F NM_173850 NP_776249 Q8IW75 SPA12_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA. 25 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) TCCTTGGTGAGAAGCTCGGCT 0.478000 136 69 0 0 0.003610 0 0 ADH1A 124 broad.mit.edu 37 4 100203727 100203727 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:100203727C>T uc003hur.2 - 5 718 c.604G>A c.(604-606)Gga>Aga p.G202R LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'UTR NM_000667 NP_000658 P07327 ADH1A_HUMAN Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA. 202 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) CCGACCCCTCCCAGGCCAAAC 0.458000 185 69 0 0 0.003610 0 0 PCDH20 64881 broad.mit.edu 37 13 61986425 61986425 + Missense_Mutation SNP C G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr13:61986425C>G uc001vid.4 - 1 2171 c.1807G>C c.(1807-1809)Gaa>Caa p.E603Q PCDH20_uc010thj.2_Missense_Mutation_p.E603Q NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN Homo sapiens protocadherin 20 (PCDH20), mRNA. 576 Cadherin 4. 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) CTGTACTTTTCTTTCTCTTCT 0.443000 80 31 0 0 0.007291 0 0 RAB35 11021 broad.mit.edu 37 12 120535014 120535014 + Silent SNP A C C TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:120535014A>C uc009zww.2 - 6 942 c.36T>G c.(34-36)ggT>ggG p.G12G RAB35_uc001txm.2_3'UTR|RAB35_uc010szh.2_3'UTR Q15286 RAB35_HUMAN Homo sapiens RAB35, member RAS oncogene family (RAB35), transcript variant 1, mRNA. 0 cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.248) TGGGGGAGGGACCGCAGTGCA 0.537000 70 28 0 0 0.002096 0 0 WBSCR28 135886 broad.mit.edu 37 7 73279529 73279529 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:73279529G>A uc003tzk.2 + 1 315 c.279G>A c.(277-279)caG>caA p.Q93Q WBSCR28_uc003tzl.2_5'UTR NM_182504 NP_872310 Q6UE05 WBS28_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA. 93 integral to membrane breast(2)|kidney(2)|lung(6)|skin(1) 11 Lung NSC(55;0.159) TGGTGCTACAGGGACCCAGGC 0.687000 40 24 0 0 0.002780 0 0 ECE1 1889 broad.mit.edu 37 1 21551784 21551784 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:21551784C>T uc001bek.2 - 16 2074 c.1999G>A c.(1999-2001)Gag>Aag p.E667K ECE1_uc001bem.2_Missense_Mutation_p.E651K|ECE1_uc001bej.2_Missense_Mutation_p.E655K|ECE1_uc001bei.2_Missense_Mutation_p.E664K|ECE1_uc010odl.1_Missense_Mutation_p.E667K NM_001397 NP_001388 P42892 ECE1_HUMAN Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA. 667 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane 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) GCGATGTTCTCCCCCAGGGTG 0.652000 50 25 0 0 0.005443 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18142625 18142625 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr20:18142625C>T uc021wbb.1 + 4 1281 c.844C>T c.(844-846)Ctt>Ttt p.L282F CSRP2BP_uc002wqk.3_Missense_Mutation_p.L154F|CSRP2BP_uc010zru.2_Missense_Mutation_p.L153F NM_020536 NP_065397 Q9H8E8 CSR2B_HUMAN Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA. 282 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 CGCTGGCTTTCTTGACAGGAG 0.473000 146 53 0 0 0.003610 0 0 DENND3 22898 broad.mit.edu 37 8 142161759 142161759 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:142161759C>T uc003yvy.3 + 6 935 c.657C>T c.(655-657)ttC>ttT p.F219F DENND3_uc010mep.3_Silent_p.F232F NM_014957 NP_055772 A2RUS2 DEND3_HUMAN Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA. 219 DENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) TCGTCTTCTTCTCCTCGGACT 0.542000 98 27 0 0 0.001786 0 0 DNAH2 146754 broad.mit.edu 37 17 7691218 7691218 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:7691218C>T uc002giu.1 + 41 6658 c.6644C>T c.(6643-6645)tCt>tTt p.S2215F NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 2215 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GCAATGGCCTCTCCGGCCACT 0.527000 50 24 0 0 0.003330 0 0 PANX2 56666 broad.mit.edu 37 22 50615991 50615991 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr22:50615991G>A uc003bjn.4 + 1 850 c.850G>A c.(850-852)Gtg>Atg p.V284M PANX2_uc003bjp.4_Missense_Mutation_p.V150M|PANX2_uc003bjo.4_Missense_Mutation_p.V284M NM_052839 NP_443071 Q96RD6 PANX2_HUMAN Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA. 284 protein hexamerization|synaptic transmission gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1) 7 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) GCTCCCGTCCGTGCAACTGCA 0.657000 47 10 0 0 0.008291 0 0 COL27A1 85301 broad.mit.edu 37 9 117014922 117014922 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr9:117014922C>T uc011lxl.2 + 25 3083 c.3083C>T c.(3082-3084)tCg>tTg p.S1028L COL27A1_uc004bii.3_Non-coding_Transcript NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA. 1028 Collagen-like 7.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CCCAAGGGGTCGATGGTAAGG 0.592000 70 63 0 0 0.003610 0 0 CLVS2 134829 broad.mit.edu 37 6 123369856 123369856 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:123369856G>A uc003pzi.1 + 3 1523 c.654G>A c.(652-654)ctG>ctA p.L218L NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN Homo sapiens clavesin 2 (CLVS2), mRNA. 218 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 GGCCTTTCCTGAAGGAGAAAA 0.388000 86 64 0 0 0.003610 0 0 BCL6B 255877 broad.mit.edu 37 17 6928507 6928507 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:6928507C>T uc010clt.1 + 4 939 c.877C>T c.(877-879)Cgt>Tgt p.R293C BCL6B_uc002geg.2_Missense_Mutation_p.R293C NM_181844 NP_862827 Q8N143 BCL6B_HUMAN Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA. 293 nucleus zinc ion binding skin(1) 1 TGAACGGGCTCGTCCACTACC 0.557000 141 38 0 0 0.003610 0 0 RASGRP1 10125 broad.mit.edu 37 15 38852064 38852064 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr15:38852064C>T uc001zke.4 - 1 356 c.178G>A c.(178-180)Gcc>Acc p.A60T RASGRP1_uc001zkd.4_Missense_Mutation_p.A60T NM_005739 NP_005730 O95267 GRP1_HUMAN Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA. 60 N-terminal Ras-GEF.|Ras exchanger motif region; required for transforming activity (By similarity). Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) TCCAGGCTGGCTCCTTTGGCT 0.502000 27 19 0 0 0.002780 0 0 RP1 6101 broad.mit.edu 37 8 55541974 55541974 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:55541974G>A uc003xsd.1 + 3 5680 c.5532G>A c.(5530-5532)aaG>aaA p.K1844K RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1844 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCTGTGCCAAGGAAAGAATAG 0.408000 24 15 0 0 0.003163 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891529 18891529 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:18891529C>T uc001rdy.3 + 0 485 c.327C>T c.(325-327)atC>atT p.I109I PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank NM_033328 NP_201585 Q96KX2 CAZA3_HUMAN Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA. 109 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) GTCATGGTATCATTCAGAATG 0.388000 37 21 0 0 0.001523 0 0 MYH13 8735 broad.mit.edu 37 17 10223547 10223547 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:10223547G>A uc002gmk.1 - 25 3361 c.3271C>T c.(3271-3273)Ctc>Ttc p.L1091F MYH13_uc010vve.1_3'UTR NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 1091 muscle contraction muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 AACTGACTGAGTTCAAACTCC 0.378000 14 8 0 0 0.006214 0 0 GPX6 257202 broad.mit.edu 37 6 28474188 28474188 + Missense_Mutation SNP T G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:28474188T>G uc021yrx.1 - 2 310 c.260A>C c.(259-261)gAg>gCg p.E87A GPX6_uc010jrg.1_Non-coding_Transcript NM_182701 NP_874360 P59796 GPX6_HUMAN Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA. 87 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) CTTCAGCTCCTCCTGTAGTGC 0.453000 82 17 0 0 0.004990 0 0 NOL10 79954 broad.mit.edu 37 2 10717816 10717816 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:10717816C>T uc002raq.2 - 19 2018 c.1893G>A c.(1891-1893)ttG>ttA p.L631L NOL10_uc010yje.1_Silent_p.L605L|NOL10_uc010yjf.1_Silent_p.L581L|NOL10_uc002rap.2_Silent_p.L581L NM_024894 NP_079170 Q9BSC4 NOL10_HUMAN Homo sapiens nucleolar protein 10 (NOL10), mRNA. 631 nucleolus Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207) CGGATACACTCAATGTCCCAT 0.313000 23 9 0 0 0.002450 0 0 FAM124B 79843 broad.mit.edu 37 2 225266236 225266236 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:225266236G>A uc002vnx.3 - 0 476 c.250C>T c.(250-252)Cgc>Tgc p.R84C FAM124B_uc002vnw.3_Missense_Mutation_p.R84C NM_001122779 NP_001116251 Q9H5Z6 F124B_HUMAN Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA. 84 protein binding endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 16 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) TCCAGGACGCGAAATAGCCTA 0.547000 40 16 0 0 0.004007 0 0 EPPK1 83481 broad.mit.edu 37 8 144940357 144940357 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:144940357G>A uc003zaa.1 - 0 7078 c.7065C>T c.(7063-7065)caC>caT p.H2355H NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 2355 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGGGCACGCGGTGGCTGTGCA 0.692000 406 22 0 0 0.008361 0 0 OR2M7 391196 broad.mit.edu 37 1 248487141 248487141 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:248487141G>A uc010pzk.2 - 0 730 c.730C>T c.(730-732)Cac>Tac p.H244Y NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA. 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACCATGAGGTGAGAGGAACAA 0.458000 154 53 0 0 0.003610 0 0 MGAM 8972 broad.mit.edu 37 7 141708471 141708471 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:141708471G>A uc003vwy.3 + 2 347 c.293G>A c.(292-294)cGa>cAa p.R98Q NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 98 P-type 1. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.R98Q(4) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GAATTGGAACGAATTAATTGC 0.403000 59 19 0 0 0.003330 0 0 ABCC8 6833 broad.mit.edu 37 11 17418836 17418836 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:17418836C>T uc001mnc.3 - 31 4018 c.3892G>A c.(3892-3894)Gtg>Atg p.V1298M NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 1298 ABC transmembrane type-1 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGGTTCCTCACCATCCAGTTG 0.587000 114 46 0 0 0.003610 0 0 MUC13 56667 broad.mit.edu 37 3 124646508 124646508 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:124646508C>T uc003ehq.2 - 1 421 c.382G>A c.(382-384)Gga>Aga p.G128R NM_033049 NP_149038 Q9H3R2 MUC13_HUMAN Homo sapiens mucin 13, cell surface associated (MUC13), mRNA. 128 Thr-rich. extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 GTGATTAATCCATCATTTGGA 0.433000 137 62 0 0 0.003610 0 0 PDIA4 9601 broad.mit.edu 37 7 148701135 148701135 + Silent SNP G A A rs145077850 byFrequency TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:148701135G>A uc003wff.2 - 9 1971 c.1689C>T c.(1687-1689)ccC>ccT p.P563P NM_004911 NP_004902 P13667 PDIA4_HUMAN Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA. 563 Thioredoxin 3. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) TGTTGTACACGGGCTCTAGCT 0.582000 103 45 0 0 0.003610 0 0 FLNB 2317 broad.mit.edu 37 3 58084616 58084616 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:58084616C>T uc003djj.2 + 7 1491 c.1326C>T c.(1324-1326)ttC>ttT p.F442F FLNB_uc010hne.2_Silent_p.F442F|FLNB_uc003djk.2_Silent_p.F442F|FLNB_uc010hnf.2_Silent_p.F442F|FLNB_uc003djl.2_Silent_p.F273F|FLNB_uc003djm.2_Silent_p.F273F NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 442 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) AGAGTCCCTTCGTTGTGCAGG 0.547000 88 38 0 0 0.007835 0 0 DL492607 0 broad.mit.edu 37 11 113660223 113660223 + RNA SNP A G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:113660223A>G uc001pof.1 + 0 c.271A>G Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4. GGCCAGGTGAAGAACCCCGGC 0.617000 25 4 0 0 0.001168 0 0 ALDH7A1 501 broad.mit.edu 37 5 125896808 125896808 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:125896808G>A uc003ktx.3 - 9 1072 c.880C>T c.(880-882)Ctg>Ttg p.L294L ALDH7A1_uc003ktv.3_5'UTR|ALDH7A1_uc011cxa.2_Silent_p.L321L NM_001201377 NP_001188306 P49419 AL7A1_HUMAN Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA. 294 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus L-aminoadipate-semialdehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) AGTTCCAACAGACTTCTCCCT 0.338000 54 27 0 0 0.004656 0 0 TJAP1 93643 broad.mit.edu 37 6 43472767 43472767 + Missense_Mutation SNP C A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:43472767C>A uc003ovd.2 + 10 1224 c.848C>A c.(847-849)cCc>cAc p.P283H TJAP1_uc003ovf.2_Missense_Mutation_p.P273H|TJAP1_uc003ove.2_Missense_Mutation_p.P273H|TJAP1_uc003ovc.2_Missense_Mutation_p.P273H|TJAP1_uc010jyp.2_Missense_Mutation_p.P242H|TJAP1_uc011dvh.1_Missense_Mutation_p.P273H|TJAP1_uc003ovg.2_Missense_Mutation_p.P149H|TJAP1_uc011dvi.1_Missense_Mutation_p.P283H|TJAP1_uc011dvj.2_Missense_Mutation_p.P83H|TJAP1_uc003ovi.2_Missense_Mutation_p.P149H NM_001146016 NP_001139489 Q5JTD0 TJAP1_HUMAN Homo sapiens tight junction associated protein 1 (peripheral) (TJAP1), transcript variant 1, mRNA. 283 Pro-rich. Golgi apparatus|tight junction protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2) 21 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CCTGGCAGCCCCACCCCACAA 0.662000 118 33 2.80507e-11 3.96307e-11 0.002445 1 0 CXorf57 55086 broad.mit.edu 37 X 105855709 105855710 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:105855709_105855710GG>AA uc004emi.4 + 0 550_551 c.399_400GG>AA c.(397-402)agggtc>agAAtc p.V134I CXorf57_uc004emj.4_Missense_Mutation_p.V134I|CXorf57_uc004emh.2_Missense_Mutation_p.V134I NM_018015 NP_060485 Q6NSI4 CX057_HUMAN Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA. 134 NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 31 GAATTTCCAGGGTCTCATGTCT 0.441000 61 55 0 0 0.004672 0 0 ENPP6 133121 broad.mit.edu 37 4 185038147 185038147 + Silent SNP C T T rs144414378 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:185038147C>T uc003iwc.3 - 4 859 c.717G>A c.(715-717)tcG>tcA p.S239S NM_153343 NP_699174 Q6UWR7 ENPP6_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA. 239 lipid catabolic process extracellular region|integral to membrane|plasma membrane p.S239S(2) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) TTCCGTGATCCGAGAAAATAA 0.532000 49 23 0 0 0.002780 0 0 SLIT2 9353 broad.mit.edu 37 4 20533638 20533638 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:20533638G>A uc003gpr.1 + 16 1849 c.1645G>A c.(1645-1647)Gaa>Aaa p.E549K SLIT2_uc003gps.1_Missense_Mutation_p.E541K NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 549 Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding p.L548F(1) NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TACCGTGTTGGAAGCCACAGG 0.303000 45 12 0 0 0.001855 0 0 SLC22A3 6581 broad.mit.edu 37 6 160858233 160858233 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:160858233C>T uc003qti.3 + 6 1305 c.1278C>T c.(1276-1278)ttC>ttT p.F426F SLC22A3_uc011efx.2_Non-coding_Transcript NM_021977 NP_068812 O75751 S22A3_HUMAN Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA. 426 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) TCACTGCGTTCTTACCAGAAG 0.488000 60 36 0 0 0.003271 0 0 F5 2153 broad.mit.edu 37 1 169515828 169515828 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:169515828C>T uc001ggg.1 - 10 1759 c.1614G>A c.(1612-1614)agG>agA p.R538R F5_uc010plr.1_Non-coding_Transcript NM_000130 NP_000121 P12259 FA5_HUMAN Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA. 538 F5/8 type A 2.|Plastocyanin-like 4. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TGTCTGCTGCCCTCTGGAGGA 0.438000 69 28 0 0 0.008361 0 0 MUC16 94025 broad.mit.edu 37 19 9070705 9070705 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:9070705G>A uc002mkp.3 - 2 16945 c.16741C>T c.(16741-16743)Ccc>Tcc p.P5581S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5583 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGTCCCAGGGAAGGATACCC 0.522000 98 72 0 0 0.003610 0 0 TRPM6 140803 broad.mit.edu 37 9 77353524 77353524 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr9:77353524G>A uc004ajl.1 - 35 5813 c.5575C>T c.(5575-5577)Ctg>Ttg p.L1859L TRPM6_uc004ajk.1_Silent_p.L1854L|TRPM6_uc022bib.1_Silent_p.L1854L|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Silent_p.L810L|TRPM6_uc010mpd.1_Silent_p.L692L|TRPM6_uc010mpe.1_Silent_p.L406L|TRPM6_uc004ajj.1_Silent_p.L815L NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 1859 Alpha-type protein kinase. response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 AAAACTTCCAGGAACCTGTTA 0.443000 25 10 0 0 0.008291 0 0 PHLDB2 90102 broad.mit.edu 37 3 111658439 111658439 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:111658439G>A uc010hqa.3 + 6 2659 c.2248G>A c.(2248-2250)Gaa>Aaa p.E750K PHLDB2_uc003dyc.3_Missense_Mutation_p.E734K|PHLDB2_uc003dyd.3_Missense_Mutation_p.E707K|PHLDB2_uc003dyg.3_Missense_Mutation_p.E750K|PHLDB2_uc003dyh.3_Missense_Mutation_p.E707K|PHLDB2_uc003dyi.3_Missense_Mutation_p.E336K NM_001134438 NP_001127911 Q86SQ0 PHLB2_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA. 750 cytoplasm|intermediate filament cytoskeleton|plasma membrane p.E707K(1) breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GCTCCTGCGTGAAGTTGCTGA 0.393000 33 8 0 0 0.006214 0 0 HERC2 8924 broad.mit.edu 37 15 28391446 28391446 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr15:28391446C>T uc001zbj.3 - 70 11051 c.10945G>A c.(10945-10947)Gag>Aag p.E3649K NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 3649 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) TGGCGCCTCTCTGTGGAGCAC 0.557000 55 22 0 0 0.002299 0 0 DNAH8 1769 broad.mit.edu 37 6 38980014 38980014 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:38980014G>A uc021yzh.1 + 89 13504 c.13395G>A c.(13393-13395)atG>atA p.M4465I DNAH8_uc003ooe.2_Missense_Mutation_p.M4248I NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGATAAAGATGGGCCATCTTA 0.338000 35 25 0 0 0.005443 0 0 PPP6C 5537 broad.mit.edu 37 9 127912061 127912061 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr9:127912061G>A uc010mwv.3 - 7 1141 c.920C>T c.(919-921)tCg>tTg p.S307L PPP6C_uc004bpg.4_Missense_Mutation_p.S270L|PPP6C_uc010mww.3_Missense_Mutation_p.S248L|PPP6C_uc011lzr.2_Missense_Mutation_p.S123L NM_001123355 NP_001116827 O00743 PPP6_HUMAN Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA. 270 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity p.S270L(1) NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 GACCATGATCGAAGCAATATT 0.408000 18 19 0 0 0.006122 0 0 MKRN3 7681 broad.mit.edu 37 15 23811120 23811120 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr15:23811120C>T uc001ywh.4 + 0 667 c.191C>T c.(190-192)cCt>cTt p.P64L MKRN3_uc001ywi.3_Missense_Mutation_p.P64L|MKRN3_uc010ayi.1_Missense_Mutation_p.P64L NM_005664 NP_005655 Q13064 MKRN3_HUMAN Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA. 64 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding p.P64L(2) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GCTCCAGTCCCTGCCCACCTC 0.667000 51 17 0 0 0.006122 0 0 OR2A5 393046 broad.mit.edu 37 7 143747507 143747507 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:143747507C>T uc011ktw.2 + 0 13 c.13C>T c.(13-15)Cag>Tag p.Q5* NM_012365 NP_036497 Q96R48 OR2A5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA. 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) GACAAAAAATCAGACATGGGT 0.478000 90 32 0 0 0.002836 0 0 GNAS 2778 broad.mit.edu 37 20 57429248 57429248 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr20:57429248G>A uc002xzw.3 + 0 1213 c.928G>A c.(928-930)Gag>Aag p.E310K GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript NM_080425 NP_001070958 P63092 GNAS2_HUMAN Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA. 0 G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) ACCCCCGTTCGAGATTGGCAG 0.672000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 27 12 0 0 0.003163 0 0 SDR9C7 121214 broad.mit.edu 37 12 57317656 57317656 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:57317656G>A uc010sqw.2 - 3 1047 c.903C>T c.(901-903)atC>atT p.I301I NM_148897 NP_683695 Q8NEX9 DR9C7_HUMAN Homo sapiens short chain dehydrogenase/reductase family 9C, member 7 (SDR9C7), mRNA. 301 cytoplasm binding|oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1) 7 ACCGGCTTAGGATGAAATCTG 0.577000 74 17 0 0 0.004990 0 0 WNT7A 7476 broad.mit.edu 37 3 13860792 13860792 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:13860792G>A uc003bye.1 - 3 1004 c.699C>T c.(697-699)aaC>aaT p.N233N NM_004625 NP_004616 O00755 WNT7A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA. 233 Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 GAACGGCCTCGTTGTACTTGT 0.612000 56 39 0 0 0.004878 0 0 OR4K14 122740 broad.mit.edu 37 14 20483095 20483095 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:20483095G>A uc010tky.2 - 0 258 c.258C>T c.(256-258)ttC>ttT p.F86F NM_001004712 NP_001004712 Q8NGD5 OR4KE_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA. 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) GATCACTAAGGAAATCCCTGA 0.507000 38 19 0 0 0.008871 0 0 KIAA1841 84542 broad.mit.edu 37 2 61298824 61298824 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:61298824G>A uc002saw.4 + 3 537 c.234G>A c.(232-234)gaG>gaA p.E78E KIAA1841_uc002sax.4_5'UTR|KIAA1841_uc002say.3_Silent_p.E78E|KIAA1841_uc002sav.4_Silent_p.E78E NM_001129993 NP_001123465 Q6NSI8 K1841_HUMAN Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA. 78 p.E78D(3) breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) CTGCTGGAGAGAGTCCTGTTG 0.393000 48 23 0 0 0.001882 0 0 MIR1283-2 100302205 broad.mit.edu 37 19 54261542 54261542 + RNA SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:54261542C>T uc021vax.1 + 0 c.57C>T Homo sapiens microRNA 1283-2 (MIR1283-2), microRNA. GAAAAGAAATCGCTTCCCTTT 0.433000 38 28 0 0 0.006320 0 0 PMS1 5378 broad.mit.edu 37 2 190719571 190719571 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:190719571C>T uc002urh.4 + 8 2102 c.1573C>T c.(1573-1575)Cca>Tca p.P525S PMS1_uc010zga.1_Missense_Mutation_p.P486S|PMS1_uc010zgb.1_Missense_Mutation_p.P464S|PMS1_uc002urk.4_Missense_Mutation_p.P486S|PMS1_uc002uri.4_Missense_Mutation_p.P525S|PMS1_uc010zgc.2_Missense_Mutation_p.P349S|PMS1_uc010zgd.2_Missense_Mutation_p.P349S|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Missense_Mutation_p.P486S|PMS1_uc010frz.3_Intron|PMS1_uc002url.3_Missense_Mutation_p.P310S|PMS1_uc002urm.3_Non-coding_Transcript|PMS1_uc002urn.1_Missense_Mutation_p.P193S NM_000534 NP_000525 P54277 PMS1_HUMAN Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA. 525 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) AAAAAGTTTACCATGTAAAGT 0.299000 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 47 14 0 0 0.006122 0 0 PLAGL2 5326 broad.mit.edu 37 20 30789889 30789889 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr20:30789889G>A uc002wxn.2 - 1 310 c.93C>T c.(91-93)ggC>ggT p.G31G NM_002657 NP_002648 Q9UPG8 PLAL2_HUMAN Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA. 31 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCGCCTCCCGGCCCCGAGGCC 0.572000 65 23 0 0 0.003954 0 0 ABCA13 154664 broad.mit.edu 37 7 48619965 48619965 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:48619965C>T uc003toq.2 + 55 14524 c.14500C>T c.(14500-14502)Cct>Tct p.P4834S ABCA13_uc010kys.1_Missense_Mutation_p.P1909S|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.P564S NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 4834 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GCAGTGCATCCCTGAGGTAAA 0.532000 9 8 0 0 0.006214 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881884 228881884 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:228881884C>T uc002vpq.2 - 6 3733 c.3686G>A c.(3685-3687)cGa>cAa p.R1229Q SPHKAP_uc002vpp.2_Missense_Mutation_p.R1229Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.R1229Q NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 1229 cytoplasm protein binding p.R1229Q(3) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CACTGGGGATCGCAGAGAAGG 0.567000 71 33 0 0 0.002096 0 0 TERT 7015 broad.mit.edu 37 5 1280441 1280441 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:1280441C>T uc003jcb.1 - 3 1840 c.1782G>A c.(1780-1782)aaG>aaA p.K594K TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Silent_p.K594K|TERT_uc003jca.1_Silent_p.K594K|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Silent_p.K46K NM_198253 NP_937983 O14746 TERT_HUMAN Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. 594 DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase PML body|cytoplasm|nucleolus|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GCTGCACCCTCTTCAAGTGCT 0.632000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 39 7 0 0 0.001984 0 0 OR5P3 120066 broad.mit.edu 37 11 7847259 7847259 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:7847259C>T uc010rbg.2 - 0 261 c.261G>A c.(259-261)agG>agA p.R87R NM_153445 NP_703146 Q8WZ94 OR5P3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA. 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGGTTTCTTTCCTTAGGAAGC 0.507000 67 15 0 0 0.003163 0 0 MCF2L 23263 broad.mit.edu 37 13 113715025 113715025 + Splice_Site SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr13:113715025C>T uc001vsu.3 + 5 660 c.660_splice c.e5+1 p.P220_splice MCF2L_uc001vsq.3_Splice_Site_p.P220_splice|MCF2L_uc010tjr.2_Splice_Site_p.P163_splice|MCF2L_uc001vsr.3_Splice_Site_p.P167_splice|MCF2L_uc001vss.4_Splice_Site_p.P161_splice|MCF2L_uc010tjs.2_Splice_Site_p.P161_splice|MCF2L_uc001vst.1_Splice_Site_p.P125_splice NM_024979 NP_079255 O15068 MCF2L_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA. 193 CRAL-TRIO. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 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;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) ATGAAGGTGCCGGTAAGTGCG 0.542000 64 4 0 0 0.000248 0 0 NOB1 28987 broad.mit.edu 37 16 69776383 69776383 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:69776383G>A uc002exs.3 - 8 1107 c.1091C>T c.(1090-1092)cCt>cTt p.P364L NM_014062 NP_054781 Q9ULX3 NOB1_HUMAN Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA. 364 nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GATGTAGTCAGGGGCGAACAC 0.612000 82 23 0 0 0.002780 0 0 CD163 9332 broad.mit.edu 37 12 7637841 7637841 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:7637841G>A uc001qsz.3 - 10 2758 c.2630C>T c.(2629-2631)cCt>cTt p.P877L CD163_uc001qta.3_Missense_Mutation_p.P877L|CD163_uc009zfw.2_Missense_Mutation_p.P910L NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 877 SRCR 8. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity 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 TAAAGATGCAGGGTTGATTTT 0.532000 81 41 0 0 0.002222 0 0 DSP 1832 broad.mit.edu 37 6 7569487 7569487 + Silent SNP G A A rs35820473 byFrequency TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:7569487G>A uc003mxp.1 + 11 1767 c.1488G>A c.(1486-1488)acG>acA p.T496T DSP_uc003mxq.1_Silent_p.T496T|DSP_uc021yle.1_Silent_p.T496T NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 496 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GGTACGTGACGGGCCCGGGAG 0.557000 130 37 0 0 0.004878 0 0 F13A1 2162 broad.mit.edu 37 6 6266812 6266812 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:6266812G>A uc003mwv.3 - 3 673 c.550C>T c.(550-552)Ctc>Ttc p.L184F F13A1_uc011dib.2_Missense_Mutation_p.L121F NM_000129 NP_000120 P00488 F13A_HUMAN Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA. 184 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GGATTGAAGAGAATGTACGTG 0.458000 73 60 0 0 0.003610 0 0 TRIP10 9322 broad.mit.edu 37 19 6750053 6750053 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:6750053G>A uc002mfs.3 + 11 1437 c.1371G>A c.(1369-1371)ctG>ctA p.L457L TRIP10_uc010dux.2_Silent_p.L401L|TRIP10_uc002mfr.3_Silent_p.L401L|TRIP10_uc010duy.3_Non-coding_Transcript NM_004240 NP_004231 Q15642 CIP4_HUMAN Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA. 457 Interaction with CDC42.|Interaction with PDE6G (By similarity). actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction Golgi apparatus|cell cortex|cell projection|cytoskeleton|cytosol|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 16 TTGAACGGCTGAAATTGGAAG 0.587000 57 42 0 0 0.002852 0 0 WEE2 494551 broad.mit.edu 37 7 141424038 141424038 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:141424038G>A uc003vwn.2 + 7 1590 c.1184G>A c.(1183-1185)gGa>gAa p.G395E FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA. 395 Protein kinase. egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) GTGGAAGAAGGAGATAGTCGC 0.368000 86 24 0 0 0.006320 0 0 NRXN2 9379 broad.mit.edu 37 11 64427939 64427939 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:64427939C>T uc021qkw.1 - 10 2716 c.2254G>A c.(2254-2256)Gag>Aag p.E752K NRXN2_uc021qkx.1_Missense_Mutation_p.E721K|NRXN2_uc001oas.3_Missense_Mutation_p.E721K|NRXN2_uc001oaq.3_Missense_Mutation_p.E419K NM_015080 NP_055895 Q9P2S2 NRX2A_HUMAN Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA. 752 Laminin G-like 4. cell adhesion integral to membrane metal ion binding p.T751T(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 TCCTCTGCCTCCGTGTGCATG 0.602000 19 13 0 0 0.001855 0 0 TG 7038 broad.mit.edu 37 8 133885333 133885333 + Missense_Mutation SNP C T T rs143578780 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:133885333C>T uc003ytw.3 + 4 546 c.505C>T c.(505-507)Cgt>Tgt p.R169C NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 169 Thyroglobulin type-1 3. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AATAAGAAATCGTCGTCTTCT 0.443000 26 15 0 0 0.006122 0 0 RBBP6 5930 broad.mit.edu 37 16 24583080 24583080 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:24583080C>T uc002dmh.3 + 17 5733 c.4693C>T c.(4693-4695)Cct>Tct p.P1565S RBBP6_uc002dmi.3_Missense_Mutation_p.P1531S|RBBP6_uc010bxr.3_Missense_Mutation_p.P725S|RBBP6_uc002dmk.3_Missense_Mutation_p.P1398S NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA. 1565 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) AGATAAAAATCCTTGTAAGGA 0.368000 37 9 0 0 0.006214 0 0 TTLL7 79739 broad.mit.edu 37 1 84403605 84403605 + Missense_Mutation SNP G C C TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:84403605G>C uc001djc.3 - 7 1214 c.818C>G c.(817-819)tCc>tGc p.S273C TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Intron|TTLL7_uc001djg.3_Non-coding_Transcript NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA. 273 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) CCATTTGATGGAACGTTTGCT 0.368000 103 26 0 0 0.005443 0 0 PEG3 5178 broad.mit.edu 37 19 57327691 57327691 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:57327691G>A uc002qnu.2 - 6 2470 c.2119C>T c.(2119-2121)Cat>Tat p.H707Y PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.H678Y|PEG3_uc002qnv.2_Missense_Mutation_p.H707Y|PEG3_uc002qnw.2_Missense_Mutation_p.H583Y|PEG3_uc002qnx.2_Missense_Mutation_p.H581Y|PEG3_uc010etr.2_Missense_Mutation_p.H707Y NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 707 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) TTTCGAGAATGAATTTTCTGA 0.433000 29 32 0 0 0.001786 0 0 NPAS4 266743 broad.mit.edu 37 11 66189622 66189622 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:66189622C>T uc001ohx.1 + 1 383 c.207C>T c.(205-207)ctC>ctT p.L69L NPAS4_uc010rpc.1_5'UTR NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA. 69 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CGGGGCTTCTCTCAGCTCAAG 0.582000 OREG0003368 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=NPAS4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 41 18 0 0 0.007413 0 0 MYO18A 399687 broad.mit.edu 37 17 27448924 27448924 + Missense_Mutation SNP A C C TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:27448924A>C uc002hdt.1 - 3 1297 c.1139T>G c.(1138-1140)gTg>gGg p.V380G MYO18A_uc010wbc.1_5'Flank|MYO18A_uc002hds.2_5'UTR|MYO18A_uc010csa.1_Missense_Mutation_p.V380G|MYO18A_uc002hdu.1_Missense_Mutation_p.V380G|MYO18A_uc010wbd.1_Missense_Mutation_p.V49G NM_078471 NP_510880 Q92614 MY18A_HUMAN Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA. 380 DNA metabolic process|anti-apoptosis ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) GTCCAGCTTCACACGCACCTT 0.612000 63 26 0 0 0.005443 0 0 CASP5 838 broad.mit.edu 37 11 104871020 104871020 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:104871020G>A uc010ruz.1 - 5 991 c.959C>T c.(958-960)cCc>cTc p.P320L CASP5_uc010rva.1_Missense_Mutation_p.P307L|CASP5_uc010rvb.1_Missense_Mutation_p.P249L|CASP5_uc010rvc.1_Missense_Mutation_p.P165L|CASP5_uc009yxh.2_Missense_Mutation_p.P89L|CASP5_uc010rvd.1_Missense_Mutation_p.P89L NM_001136112 NP_001129584 P51878 CASP5_HUMAN Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA. 307 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding p.P320R(1)|p.S320F(1)|p.P291R(1) NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) GATGACCTTGGGTTTGTCCTT 0.453000 123 48 0 0 0.003610 0 0 CCDC57 284001 broad.mit.edu 37 17 80121180 80121180 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:80121180C>T uc002kdx.1 - 12 1973 c.1936G>A c.(1936-1938)Gga>Aga p.G646R CCDC57_uc010dik.1_Missense_Mutation_p.G154R|CCDC57_uc002kdz.1_Missense_Mutation_p.G646R NM_198082 NP_932348 Q2TAC2 CCD57_HUMAN Homo sapiens coiled-coil domain containing 57 (CCDC57), mRNA. 646 endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) ACAGATCCTCCTGCTTGACCA 0.572000 56 39 0 0 0.005524 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110437354 110437354 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:110437354G>A uc003yne.3 + 23 2842 c.2738G>A c.(2737-2739)gGa>gAa p.G913E NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 913 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTCTACAGAGGAAATAATTGG 0.338000 HNSCC(38;0.096) 22 8 0 0 0.004482 0 0 HDAC4 9759 broad.mit.edu 37 2 240024505 240024505 + Missense_Mutation SNP T A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:240024505T>A uc002vyk.4 - 15 2977 c.2185A>T c.(2185-2187)Aac>Tac p.N729Y HDAC4_uc010fyz.1_Missense_Mutation_p.N724Y|HDAC4_uc010zoa.1_Missense_Mutation_p.N729Y|HDAC4_uc010fza.2_Missense_Mutation_p.N734Y|HDAC4_uc010fyy.3_Missense_Mutation_p.N686Y|HDAC4_uc010znz.1_Missense_Mutation_p.N612Y NM_006037 NP_006028 P56524 HDAC4_HUMAN Homo sapiens histone deacetylase 4 (HDAC4), mRNA. 729 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) TTCTGCCGGTTGAGGGGGTTC 0.562000 55 26 0 0 0.003330 0 0 FTH1 2495 broad.mit.edu 37 11 61732270 61732270 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:61732270C>T uc001nsu.3 - 3 716 c.481G>A c.(481-483)Gcg>Acg p.A161T NM_002032 NP_002023 P02794 FRIH_HUMAN Homo sapiens ferritin, heavy polypeptide 1 (FTH1), mRNA. 161 cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|ferroxidase activity|protein binding NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Iron Dextran(DB00893) GATTCGGGCGCTCCCATCTTG 0.498000 50 9 0 0 0.006214 0 0 VCX3A 51481 broad.mit.edu 37 X 6451786 6451786 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:6451786C>T uc004crs.3 - 2 868 c.561G>A c.(559-561)taG>taA p.*187* VCX3A_uc010ndk.2_Missense_Mutation_p.R127K|VCX3A_uc022bsg.1_Silent_p.*167* NM_016379 NP_057463 Q9NNX9 VCX3_HUMAN Homo sapiens variable charge, X-linked 3A (VCX3A), mRNA. 0 brain development nucleolus NS(1)|lung(2)|pancreas(1) 4 AGCTGGCCGTCTACACACTCG 0.582000 110 86 0 0 0.003610 0 0 FILIP1 27145 broad.mit.edu 37 6 76022244 76022244 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:76022244C>T uc010kbe.3 - 5 3843 c.3313G>A c.(3313-3315)Gag>Aag p.E1105K FILIP1_uc003phy.1_Missense_Mutation_p.E1102K|FILIP1_uc003phz.3_Missense_Mutation_p.E1003K|FILIP1_uc003pia.3_Missense_Mutation_p.E1102K|FILIP1_uc003pib.1_Missense_Mutation_p.E854K NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 1102 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 GTGGAAACCTCCTTTTCGGCT 0.532000 102 88 0 0 0.003610 0 0 ALMS1 7840 broad.mit.edu 37 2 73784428 73784428 + Missense_Mutation SNP T G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:73784428T>G uc002sje.1 + 13 10268 c.10157T>G c.(10156-10158)gTg>gGg p.V3386G ALMS1_uc002sjf.1_Missense_Mutation_p.V3344G|ALMS1_uc002sjg.3_Missense_Mutation_p.V2774G|ALMS1_uc002sjh.1_Missense_Mutation_p.V2774G|ALMS1_uc010fev.1_Missense_Mutation_p.V146G NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA. 3386 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 ACAAGGGCAGTGACTGAGGCT 0.423000 61 36 0 0 0.004289 0 0 CNTN1 1272 broad.mit.edu 37 12 41337963 41337963 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:41337963G>A uc001rmm.1 + 13 1787 c.1674G>A c.(1672-1674)agG>agA p.R558R CNTN1_uc009zjy.2_Silent_p.R558R|CNTN1_uc001rmn.1_Silent_p.R547R|CNTN1_uc001rmo.3_Silent_p.R558R NM_001843 NP_001834 Q12860 CNTN1_HUMAN Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA. 558 Ig-like C2-type 6. Notch signaling pathway|axon guidance|cell adhesion anchored to membrane|membrane fraction|plasma membrane p.Q557P(1) 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) ACTACCAGAGGAATTTTATGG 0.353000 52 10 0 0 0.000978 0 0 CEP95 90799 broad.mit.edu 37 17 62504805 62504805 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:62504805C>T uc002jem.3 + 1 173 c.115C>T c.(115-117)Ctt>Ttt p.L39F CEP95_uc002jen.3_Non-coding_Transcript|CEP95_uc010wqb.2_5'UTR|DDX5_uc010deh.2_5'Flank|DDX5_uc002jek.2_5'Flank|DDX5_uc002jej.2_5'Flank|DDX5_uc010wqa.1_5'Flank NM_138363 NP_612372 Q96GE4 CEP95_HUMAN Homo sapiens centrosomal protein 95kDa (CEP95), mRNA. 39 centrosome|spindle pole protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1) 13 TTTTATTGCTCTTTATCAGTC 0.338000 87 15 0 0 0.004990 0 0 CPXM2 119587 broad.mit.edu 37 10 125622149 125622149 + Missense_Mutation SNP C T T rs144190123 by1000genomes TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:125622149C>T uc001lhk.1 - 2 819 c.494G>A c.(493-495)cGa>cAa p.R165Q CPXM2_uc001lhj.3_Non-coding_Transcript NM_198148 NP_937791 Q8N436 CPXM2_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA. 165 F5/8 type C. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) GAGTCTCCCTCGATGTGCCCC 0.532000 29 9 0 0 0.001855 0 0 KIAA1009 22832 broad.mit.edu 37 6 84862679 84862679 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:84862679G>A uc010kbp.3 - 22 3311 c.3214C>T c.(3214-3216)Cag>Tag p.Q1072* KIAA1009_uc003pkj.4_Nonsense_Mutation_p.Q996*|KIAA1009_uc003pki.4_Nonsense_Mutation_p.Q458* NM_014895 NP_055710 Q5TB80 QN1_HUMAN Homo sapiens KIAA1009 (KIAA1009), mRNA. 1072 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) TCTATAGACTGAAAATCTTCA 0.363000 107 19 0 0 0.008871 0 0 GPR98 84059 broad.mit.edu 37 5 89979617 89979617 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:89979617G>A uc003kju.3 + 27 5975 c.5879G>A c.(5878-5880)gGa>gAa p.G1960E GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 1960 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GGTTCTTTGGGAGCTCATATT 0.428000 29 14 0 0 0.002450 0 0 SPAG16 79582 broad.mit.edu 37 2 214794732 214794732 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:214794732G>A uc002veq.3 + 11 1355 c.1263G>A c.(1261-1263)tgG>tgA p.W421* SPAG16_uc010fuz.2_Nonsense_Mutation_p.W272*|SPAG16_uc002ver.3_Nonsense_Mutation_p.W367*|SPAG16_uc010zjk.2_Nonsense_Mutation_p.W327* NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA. 421 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) TTAAATTATGGGATCTATGTA 0.413000 75 21 0 0 0.003330 0 0 GPR56 9289 broad.mit.edu 37 16 57685239 57685239 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:57685239C>T uc002emb.2 + 3 484 c.192C>T c.(190-192)gcC>gcT p.A64A GPR56_uc002elz.1_Intron|GPR56_uc002ema.1_5'UTR|GPR56_uc002emc.2_Silent_p.A64A|GPR56_uc002emf.2_Silent_p.A64A|GPR56_uc010vhs.1_Silent_p.A64A|GPR56_uc002emd.2_Silent_p.A64A|GPR56_uc002eme.2_Silent_p.A64A|GPR56_uc010vht.1_Silent_p.A69A|GPR56_uc002emg.3_Silent_p.A64A|GPR56_uc010vhu.1_5'UTR NM_005682 NP_005673 Q9Y653 GPR56_HUMAN Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNA. 64 brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 15 CCGAAGAGGCCCTCACAGTCC 0.602000 66 30 0 0 0.006320 0 0 SLC13A5 284111 broad.mit.edu 37 17 6606305 6606305 + Missense_Mutation SNP G T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:6606305G>T uc002gdj.3 - 4 788 c.700C>A c.(700-702)Ctg>Atg p.L234M SLC13A5_uc010clq.3_Missense_Mutation_p.L191M|SLC13A5_uc002gdk.3_Missense_Mutation_p.L217M|SLC13A5_uc010vtf.2_Missense_Mutation_p.L234M|SLC13A5_uc002gdl.1_Missense_Mutation_p.L216M NM_177550 NP_808218 Q86YT5 S13A5_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA. 234 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 ATCTGGCCCAGGAGCACCACG 0.652000 50 32 9.65963e-10 1.3632e-09 0.003271 1 0 OR10J5 127385 broad.mit.edu 37 1 159505559 159505559 + Missense_Mutation SNP C T T rs146863607 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:159505559C>T uc010piw.2 - 0 239 c.239G>A c.(238-240)cGa>cAa p.R80Q NM_001004469 NP_001004469 Q8NHC4 O10J5_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA. 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R80Q(2) kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) CAAAAGCATTCGTGGCACAAT 0.428000 66 32 0 0 0.001786 0 0 abParts 0 broad.mit.edu 37 14 107099220 107099220 + RNA SNP A T T rs148129115 by1000genomes TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:107099220A>T uc021ser.1 - 109 c.4854T>A Parts of antibodies, mostly variable regions. GTCTCTGGAGATGGTGAATCG 0.498000 71 4 0 0 0.000602 0 0 FAM170A 340069 broad.mit.edu 37 5 118970375 118970375 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:118970375G>A uc003ksm.2 + 2 1142 c.932G>A c.(931-933)aGg>aAg p.R311K FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Missense_Mutation_p.R311K|FAM170A_uc003kso.3_Missense_Mutation_p.R264K NM_182761 NP_877438 A1A519 F170A_HUMAN Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA. 311 intracellular zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 24 CTTGGCCTGAGGAGATCCTGG 0.537000 94 17 0 0 0.004990 0 0 EFHC1 114327 broad.mit.edu 37 6 52303138 52303138 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:52303138C>T uc003pap.4 + 2 537 c.322C>T c.(322-324)Cct>Tct p.P108S EFHC1_uc011dwv.1_Missense_Mutation_p.P17S|EFHC1_uc011dww.2_Missense_Mutation_p.P89S NM_018100 NP_060570 Q5JVL4 EFHC1_HUMAN Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA. 108 DM10 1. axoneme|neuronal cell body calcium ion binding|protein C-terminus binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27 Lung NSC(77;0.109) AGAAGATGTTCCTATGTCAAC 0.358000 21 9 0 0 0.004482 0 0 DCN 1634 broad.mit.edu 37 12 91545456 91545456 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:91545456C>T uc001tbt.3 - 6 1114 c.860G>A c.(859-861)gGg>gAg p.G287E DCN_uc001tbo.3_Missense_Mutation_p.G178E|DCN_uc001tbp.3_Missense_Mutation_p.G140E|DCN_uc001tbq.3_Intron|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Missense_Mutation_p.G287E NM_133503 NP_598010 P07585 PGS2_HUMAN Homo sapiens decorin (DCN), transcript variant A2, mRNA. 287 organ morphogenesis extracellular space p.G287V(2) central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 CTCTGCCAGCCCACCAGGTAC 0.502000 31 17 0 0 0.006122 0 0 PXDNL 137902 broad.mit.edu 37 8 52322009 52322009 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:52322009C>T uc003xqu.4 - 16 2276 c.2175G>A c.(2173-2175)gcG>gcA p.A725A PXDNL_uc003xqt.4_Non-coding_Transcript NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 725 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CGCGGTACTTCGCATGGAAAC 0.657000 41 17 0 0 0.007413 0 0 UBE2MP1 606551 broad.mit.edu 37 16 34404153 34404153 + RNA SNP T A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:34404153T>A uc002edv.1 - 0 c.610A>T Homo sapiens ubiquitin-conjugating enzyme E2M pseudogene 1 (UBE2MP1), non-coding RNA. CCGGTTGTTCTGCAGGACCTC 0.557000 43 4 0 0 0.000248 0 0 KCNRG 283518 broad.mit.edu 37 13 50589914 50589914 + Silent SNP T A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr13:50589914T>A uc001vdu.3 + 0 525 c.285T>A c.(283-285)gtT>gtA p.V95V DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_Silent_p.V95V|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR NM_173605 NP_775876 Q8N5I3 KCNRG_HUMAN Homo sapiens potassium channel regulator (KCNRG), transcript variant 1, mRNA. 95 BTB. voltage-gated potassium channel complex identical protein binding|voltage-gated potassium channel activity haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3) 9 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204) GTTCTCTAGTTGATCTCTTAA 0.418000 141 46 0 0 0.003610 0 0 CRYBA4 1413 broad.mit.edu 37 22 27021494 27021494 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr22:27021494G>A uc003acz.4 + 3 243 c.208G>A c.(208-210)Gaa>Aaa p.E70K NM_001886 NP_001877 P53673 CRBA4_HUMAN Homo sapiens crystallin, beta A4 (CRYBA4), mRNA. 70 Beta/gamma crystallin 'Greek key' 2. camera-type eye development|visual perception soluble fraction structural constituent of eye lens large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2) 18 GTACATTCTGGAACGAGGCGA 0.627000 185 56 0 0 0.003610 0 0 DAXX 1616 broad.mit.edu 37 6 33286918 33286918 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:33286918C>T uc003oec.3 - 6 2223 c.2019G>A c.(2017-2019)ttG>ttA p.L673L ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|ZBTB22_uc021ywm.1_5'Flank|DAXX_uc021ywn.1_Intron|DAXX_uc021ywo.1_Intron|DAXX_uc011dre.2_Silent_p.L685L|DAXX_uc003oed.3_Silent_p.L673L|DAXX_uc011drd.2_Silent_p.L598L NM_001350 NP_001241646 Q9UER7 DAXX_HUMAN Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA. 673 Interaction with SPOP. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent PML body|chromosome, centromeric region|cytosol|nucleolus androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 CCAAGGAAGCCAAGGGGGAAG 0.542000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 138 96 0 0 0.003610 0 0 KHSRP 8570 broad.mit.edu 37 19 6418802 6418802 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:6418802G>A uc002mer.4 - 7 801 c.691C>T c.(691-693)Cag>Tag p.Q231* KHSRP_uc021unp.1_5'Flank NM_003685 NP_003676 Q92945 FUBP2_HUMAN Homo sapiens KH-type splicing regulatory protein (KHSRP), mRNA. 231 Gly-rich. RNA splicing, via transesterification reactions|mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|RNA binding|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1) 17 GTGCCGTTCTGGCCCCCGTTG 0.642000 35 31 0 0 0.002836 0 0 SPANXC 64663 broad.mit.edu 37 X 140335692 140335692 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:140335692C>T uc004fbk.3 - 1 308 c.252G>A c.(250-252)gaG>gaA p.E84E SPANXC_uc004fbl.3_Non-coding_Transcript NM_022661 NP_073152 Q9NY87 SPNXC_HUMAN Homo sapiens SPANX family, member C (SPANXC), mRNA. 84 Poly-Glu. cytoplasm|nucleus large_intestine(2)|lung(3)|pancreas(1) 6 Acute lymphoblastic leukemia(192;7.65e-05) TGAATTCCTCCTCCTCCATTT 0.453000 46 41 0 0 0.003610 0 0 GABARAPL3 23766 broad.mit.edu 37 15 90892025 90892025 + RNA SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr15:90892025C>T uc010uqf.2 - 0 c.655G>A Homo sapiens GABA(A) receptors associated protein like 3, pseudogene (GABARAPL3), non-coding RNA. CACACACACCCCTCCCCTACC 0.517000 10 8 0 0 0.003080 0 0 OR5H15 403274 broad.mit.edu 37 3 97888369 97888369 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:97888369C>T uc011bgu.2 + 0 826 c.826C>T c.(826-828)Cta>Tta p.L276L NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA. 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 GGTGGAGCCTCTATTCTACAC 0.388000 56 17 0 0 0.004990 0 0 OR4A5 81318 broad.mit.edu 37 11 51412062 51412062 + Missense_Mutation SNP G T T rs146029773 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:51412062G>T uc001nhi.2 - 0 387 c.334C>A c.(334-336)Ctt>Att p.L112I NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA. 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F111L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) ACCACCAGAAGGAAGACCTCA 0.453000 32 6 8.12818e-05 0.000113433 0.001984 1 0 RSAD2 91543 broad.mit.edu 37 2 7030342 7030342 + Missense_Mutation SNP T G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:7030342T>G uc002qyp.1 + 3 910 c.774T>G c.(772-774)tgT>tgG p.C258W NM_080657 NP_542388 Q8WXG1 RSAD2_HUMAN Homo sapiens radical S-adenosyl methionine domain containing 2 (RSAD2), mRNA. 258 defense response to virus Golgi apparatus|endoplasmic reticulum membrane catalytic activity|iron-sulfur cluster binding|metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1) 20 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) OV - Ovarian serous cystadenocarcinoma(76;0.191) GTGAGAATTGTGGAGAAGATG 0.448000 67 19 0 0 0.007413 0 0 CMYA5 202333 broad.mit.edu 37 5 79028741 79028741 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:79028741C>T uc003kgc.3 + 1 4225 c.4153C>T c.(4153-4155)Cgt>Tgt p.R1385C NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 1385 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TCCTGTAGATCGTCCAGTCTT 0.398000 24 16 0 0 0.004990 0 0 GAS6 2621 broad.mit.edu 37 13 114526421 114526421 + Missense_Mutation SNP G A A rs144928601 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr13:114526421G>A uc001vug.3 - 4 1735 c.683C>T c.(682-684)gCc>gTc p.A228V GAS6_uc001vud.3_Missense_Mutation_p.A527V|GAS6_uc001vuf.3_Missense_Mutation_p.A254V NM_001143946 NP_001137418 Q14393 GAS6_HUMAN Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 3, mRNA. 570 EGF-like 3; calcium-binding (Potential). cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4)|ovary(1) 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) GAGGTCGGGGGCCCAGAGCGC 0.632000 50 23 0 0 0.002299 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618650 77618650 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:77618650C>T uc003yau.2 + 1 2714 c.2327C>T c.(2326-2328)aCc>aTc p.T776I ZFHX4_uc003yat.1_Missense_Mutation_p.T776I|ZFHX4_uc003yaw.1_Missense_Mutation_p.T776I NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 776 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) GATTATGAAACCAATGTCGCC 0.507000 HNSCC(33;0.089) 23 13 0 0 0.001368 0 0 ITGA11 22801 broad.mit.edu 37 15 68600027 68600027 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr15:68600027C>T uc010bib.3 - 26 3272 c.3185G>A c.(3184-3186)aGc>aAc p.S1062N ITGA11_uc002ari.3_Missense_Mutation_p.S1061N NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN Homo sapiens integrin, alpha 11 (ITGA11), mRNA. 1061 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) ATCAGAGTTGCTGTGATTCTG 0.542000 21 8 0 0 0.004482 0 0 GPKOW 27238 broad.mit.edu 37 X 48973501 48973501 + Missense_Mutation SNP G T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:48973501G>T uc004dmr.3 - 5 803 c.796C>A c.(796-798)Cct>Act p.P266T NM_015698 NP_056513 Q92917 GPKOW_HUMAN Homo sapiens G patch domain and KOW motifs (GPKOW), mRNA. 266 KOW 1. nucleus nucleic acid binding breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2) 21 ACATTGTCAGGATCAAGGCCT 0.547000 13 15 6.49762e-13 9.19033e-13 0.006122 1 0 FAM114A1 92689 broad.mit.edu 37 4 38933112 38933112 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:38933112C>T uc003gtn.3 + 10 1461 c.1202C>T c.(1201-1203)aCc>aTc p.T401I FAM114A1_uc011byh.2_Missense_Mutation_p.T194I|FAM114A1_uc010ifi.3_Missense_Mutation_p.T59I NM_138389 NP_612398 Q8IWE2 NXP20_HUMAN Homo sapiens family with sequence similarity 114, member A1 (FAM114A1), transcript variant 1, mRNA. 401 cytoplasm haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 20 GAGGATCAAACCGTGGTGTCA 0.448000 46 20 0 0 0.001882 0 0 FLNB 2317 broad.mit.edu 37 3 58094938 58094938 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:58094938G>A uc003djj.2 + 13 2253 c.2088G>A c.(2086-2088)atG>atA p.M696I FLNB_uc010hne.2_Missense_Mutation_p.M696I|FLNB_uc003djk.2_Missense_Mutation_p.M696I|FLNB_uc010hnf.2_Missense_Mutation_p.M696I|FLNB_uc003djl.2_Missense_Mutation_p.M527I|FLNB_uc003djm.2_Missense_Mutation_p.M527I NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 696 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding p.Q695H(1) NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) ACATCCAGATGAAGAACCGGA 0.557000 48 24 0 0 0.005443 0 0 MYH4 4622 broad.mit.edu 37 17 10366196 10366196 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:10366196G>A uc002gmn.3 - 10 1105 c.994C>T c.(994-996)Ctg>Ttg p.L332L AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 332 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GTGGCCATCAGCTCTTCCTGG 0.433000 81 21 0 0 0.002780 0 0 KCND2 3751 broad.mit.edu 37 7 119915400 119915400 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:119915400G>A uc003vjj.1 + 0 1679 c.714G>A c.(712-714)atG>atA p.M238I NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA. 238 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) CCTGCGTCATGATCTTCACAG 0.542000 54 26 0 0 0.005443 0 0 TAS1R2 80834 broad.mit.edu 37 1 19168222 19168222 + Splice_Site SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:19168222C>T uc001bba.1 - 5 1592 c.1591_splice c.e5+1 p.D531_splice NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA. 531 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GTGAATCATACCTTCAGTGTG 0.612000 90 15 0 0 0.004990 0 0 AHNAK 79026 broad.mit.edu 37 11 62298653 62298653 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:62298653G>A uc001ntl.3 - 4 3536 c.3236C>T c.(3235-3237)cCc>cTc p.P1079L AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 1079 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) TTTCATTTTGGGTCCTTTAAG 0.443000 97 42 0 0 0.002522 0 0 PLAGL2 5326 broad.mit.edu 37 20 30784638 30784638 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr20:30784638G>A uc002wxn.2 - 2 1325 c.1108C>T c.(1108-1110)Ctg>Ttg p.L370L NM_002657 NP_002648 Q9UPG8 PLAL2_HUMAN Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA. 370 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GAGAGAGACAGGCTTCCAGGA 0.587000 73 24 0 0 0.002780 0 0 PDE11A 50940 broad.mit.edu 37 2 178936809 178936809 + Missense_Mutation SNP T A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:178936809T>A uc002ulq.3 - 0 674 c.356A>T c.(355-357)aAa>aTa p.K119I PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron NM_016953 NP_001070664 Q9HCR9 PDE11_HUMAN Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA. 119 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) CCTTAGCTCTTTCTGAGAAGC 0.622000 Primary Pigmented Nodular Adrenocortical Disease, Familial 63 29 0 0 0.002096 0 0 CCT7 10574 broad.mit.edu 37 2 73477004 73477004 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:73477004C>T uc002siz.3 + 8 1173 c.1030C>T c.(1030-1032)Cga>Tga p.R344* CCT7_uc010yrf.2_Nonsense_Mutation_p.R300*|CCT7_uc010yrh.2_Nonsense_Mutation_p.R216*|CCT7_uc010yrg.2_Nonsense_Mutation_p.R244*|CCT7_uc010yri.2_Nonsense_Mutation_p.R257*|CCT7_uc002sja.3_Nonsense_Mutation_p.R140* NM_006429 NP_001159757 Q99832 TCPH_HUMAN Homo sapiens chaperonin containing TCP1, subunit 7 (eta) (CCT7), transcript variant 1, mRNA. 344 'de novo' posttranslational protein folding ATP binding|unfolded protein binding breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1) 7 TGTGCTGGGTCGATGCCAGGT 0.577000 159 68 0 0 0.003610 0 0 ANKH 56172 broad.mit.edu 37 5 14749414 14749414 + Splice_Site SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:14749414C>T uc003jfm.4 - 6 1019 c.688_splice c.e6-1 p.G230_splice NM_054027 NP_473368 Q9HCJ1 ANKH_HUMAN Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA. 230 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 TGTTGCATCTCCCTGTGTTAA 0.408000 52 21 0 0 0.002780 0 0 NLGN2 57555 broad.mit.edu 37 17 7318839 7318839 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:7318839C>T uc002ggt.1 + 5 1120 c.1047C>T c.(1045-1047)atC>atT p.I349I NM_020795 NP_065846 Q8NFZ4 NLGN2_HUMAN Homo sapiens neuroligin 2 (NLGN2), mRNA. 349 cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3) 22 Prostate(122;0.157) GCTACCACATCGCCTTTGGGC 0.607000 55 10 0 0 0.008291 0 0 PKDREJ 10343 broad.mit.edu 37 22 46655715 46655715 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr22:46655715G>A uc003bhh.3 - 0 3505 c.3505C>T c.(3505-3507)Cct>Tct p.P1169S NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA. 1169 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AGATCCACAGGATTAGGGATC 0.493000 132 75 0 0 0.003610 0 0 IP6K3 117283 broad.mit.edu 37 6 33694521 33694521 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:33694521C>T uc010jvf.2 - 4 1112 c.576G>A c.(574-576)gaG>gaA p.E192E IP6K3_uc003ofb.2_Silent_p.E192E NM_001142883 NP_473452 Q96PC2 IP6K3_HUMAN Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA. 192 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 GCCGCTTGTTCTCTGGGTACT 0.607000 38 57 0 0 0.003610 0 0 GPR179 440435 broad.mit.edu 37 17 36485713 36485713 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:36485713C>T uc002hpz.3 - 10 3760 c.3739G>A c.(3739-3741)Gag>Aag p.E1247K NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA. 1247 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TCAGTGACCTCCCAGGGGCAT 0.607000 113 38 0 0 0.005524 0 0 HPSE2 60495 broad.mit.edu 37 10 100374730 100374730 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:100374730G>A uc001kpn.2 - 8 1324 c.1251C>T c.(1249-1251)gtC>gtT p.V417V HPSE2_uc009xwc.2_Silent_p.V417V|HPSE2_uc001kpo.2_Silent_p.V359V|HPSE2_uc009xwd.2_Silent_p.V305V NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA. 417 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) GCCGTATCACGACATCAATGC 0.388000 69 35 0 0 0.004289 0 0 RYR2 6262 broad.mit.edu 37 1 237982430 237982430 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:237982430G>A uc001hyl.1 + 100 14648 c.14528G>A c.(14527-14529)cGa>cAa p.R4843Q RYR2_uc010pyb.1_Missense_Mutation_p.R276Q NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 4843 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAGATCTATCGAATCATCTTT 0.418000 77 30 0 0 0.006320 0 0 MYT1 4661 broad.mit.edu 37 20 62842672 62842672 + Nonsense_Mutation SNP A T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr20:62842672A>T uc002yii.3 + 7 1769 c.1405A>T c.(1405-1407)Aag>Tag p.K469* MYT1_uc002yih.3_Nonsense_Mutation_p.K171*|MYT1_uc002yij.3_Nonsense_Mutation_p.K101* NM_004535 NP_004526 Q01538 MYT1_HUMAN Homo sapiens myelin transcription factor 1 (MYT1), mRNA. 469 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CTGTCCCCACAAGGATAGGAT 0.572000 48 20 0 0 0.002780 0 0 RYR2 6262 broad.mit.edu 37 1 237774194 237774194 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:237774194G>A uc001hyl.1 + 35 4936 c.4816G>A c.(4816-4818)Gta>Ata p.V1606I NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 1606 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTTTTTGAAGGTAGATGTGTC 0.547000 16 8 0 0 0.003080 0 0 STC1 6781 broad.mit.edu 37 8 23702439 23702439 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:23702439G>A uc003xdw.1 - 3 872 c.588C>T c.(586-588)atC>atT p.I196I NM_003155 NP_003146 P52823 STC1_HUMAN Homo sapiens stanniocalcin 1 (STC1), mRNA. 196 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) CTGTCTGCAGGATGTGGAAGA 0.537000 91 39 0 0 0.006230 0 0 ACAD10 80724 broad.mit.edu 37 12 112193538 112193538 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:112193538C>T uc009zvx.3 + 20 3321 c.3121C>T c.(3121-3123)Cgt>Tgt p.R1041C ACAD10_uc001tsq.3_Missense_Mutation_p.R1010C|ACAD10_uc001tss.1_Non-coding_Transcript NM_001136538 NP_001130010 Q6JQN1 ACD10_HUMAN Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA. 1010 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups p.D1040N(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 AGTGATTGATCGTGCGATTCA 0.507000 100 49 0 0 0.003610 0 0 PLEKHO2 80301 broad.mit.edu 37 15 65153749 65153749 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr15:65153749C>T uc002anv.3 + 4 592 c.458C>T c.(457-459)cCa>cTa p.P153L PLEKHO2_uc002anw.3_Missense_Mutation_p.P103L NM_025201 NP_079477 Q8TD55 PKHO2_HUMAN Homo sapiens pleckstrin homology domain containing, family O member 2 (PLEKHO2), transcript variant 1, mRNA. 153 NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 CGACGCCGGCCACCAACGAGA 0.647000 24 7 0 0 0.000978 0 0 PTPN22 26191 broad.mit.edu 37 1 114380974 114380974 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:114380974C>T uc001eds.3 - 12 1178 c.1048G>A c.(1048-1050)Gaa>Aaa p.E350K PTPN22_uc021orx.1_Missense_Mutation_p.E350K|PTPN22_uc009wgq.3_Missense_Mutation_p.E295K|PTPN22_uc021ory.1_Missense_Mutation_p.E326K|PTPN22_uc010owo.2_Missense_Mutation_p.E106K|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.E350K|PTPN22_uc009wgs.2_Missense_Mutation_p.E223K|PTPN22_uc001edu.2_Missense_Mutation_p.E350K NM_015967 NP_057051 Q9Y2R2 PTN22_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA. 350 T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm SH3 domain binding|kinase binding|protein tyrosine phosphatase activity NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) 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) GAAGAAGATTCTTTGATTTCC 0.368000 20 10 0 0 0.006214 0 0 INPP5B 3633 broad.mit.edu 37 1 38331520 38331520 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:38331520G>A uc001ccf.1 - 15 1972 c.1935C>T c.(1933-1935)ttC>ttT p.F645F INPP5B_uc009vvk.1_Intron|INPP5B_uc001ccg.1_Silent_p.F809F NM_005540 NP_005531 P32019 I5P2_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA. 889 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1) 15 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GGCTCTCCAGGAAAAGCAGCA 0.507000 58 20 0 0 0.001523 0 0 TBCK 93627 broad.mit.edu 37 4 107230030 107230030 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:107230030G>A uc010ilv.2 - 1 453 c.88C>T c.(88-90)Cct>Tct p.P30S TBCK_uc003hye.2_Missense_Mutation_p.P30S|TBCK_uc003hyc.2_Missense_Mutation_p.P30S|TBCK_uc003hyd.2_5'UTR|TBCK_uc003hyf.2_Missense_Mutation_p.P30S NM_001163435 NP_001156908 Q8TEA7 TBCK_HUMAN Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA. 30 Protein kinase. intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 GGTGTGAGAGGAAGTCCATTG 0.453000 57 23 0 0 0.002780 0 0 ARMC12 221481 broad.mit.edu 37 6 35716394 35716394 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:35716394G>A uc003ola.3 + 5 878 c.851G>A c.(850-852)cGg>cAg p.R284Q ARMC12_uc003olb.1_Missense_Mutation_p.R247Q NM_145028 NP_659465 Q5T9G4 CF081_HUMAN Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA. 257 binding TTTGCTGAGCGGCTGAGTGAG 0.537000 76 25 0 0 0.003954 0 0 NLRP14 338323 broad.mit.edu 37 11 7064407 7064407 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:7064407G>A uc001mfb.1 + 3 1473 c.1150G>A c.(1150-1152)Gag>Aag p.E384K NM_176822 NP_789792 Q86W24 NAL14_HUMAN Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA. 384 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GCAGCAAATGGAGAAGGGTGG 0.468000 106 55 0 0 0.003610 0 0 GABPB2 126626 broad.mit.edu 37 1 151079543 151079543 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:151079543C>T uc001ewr.2 + 6 1098 c.767C>T c.(766-768)tCc>tTc p.S256F GABPB2_uc001ewt.2_Missense_Mutation_p.S117F NM_144618 NP_653219 Q8TAK5 GABP2_HUMAN Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA. 256 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) GAAGGAAATTCCGTTGACTCA 0.393000 35 13 0 0 0.004007 0 0 CD7 924 broad.mit.edu 37 17 80274811 80274811 + Silent SNP G A A rs139943005 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:80274811G>A uc002kel.1 - 1 238 c.129C>T c.(127-129)tcC>tcT p.S43S CD7_uc010din.3_Silent_p.S43S|CD7_uc010wvk.1_Silent_p.S43S NM_006137 NP_006128 P09564 CD7_HUMAN Homo sapiens CD7 molecule (CD7), mRNA. 43 Ig-like. T cell activation|immune response|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|membrane fraction|plasma membrane receptor activity endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667) TGATGTTGACGGAGGCTCCCA 0.632000 33 22 0 0 0.002299 0 0 TMPRSS3 64699 broad.mit.edu 37 21 43815499 43815499 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr21:43815499C>T uc002zbb.2 - 1 229 c.28G>A c.(28-30)Gaa>Aaa p.E10K TMPRSS3_uc002zbc.2_Missense_Mutation_p.E10K|TMPRSS3_uc002zbd.3_Missense_Mutation_p.E10K NM_024022 NP_076927 P57727 TMPS3_HUMAN Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA. 10 cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 AAGGGGGCTTCAACAGCAGGC 0.507000 49 10 0 0 0.000978 0 0 TCEAL6 158931 broad.mit.edu 37 X 101396105 101396105 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:101396105C>T uc022cas.1 - 0 199 c.199G>A c.(199-201)Gaa>Aaa p.E67K TCEAL6_uc004eiq.3_Missense_Mutation_p.E67K NM_001006938 NP_001006939 Q6IPX3 TCAL6_HUMAN Homo sapiens transcription elongation factor A (SII)-like 6 (TCEAL6), mRNA. 67 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 14 CCCTGCTTTTCCTGGCTTCCC 0.617000 45 39 0 0 0.006230 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154987719 154987719 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:154987719C>T uc001fgj.4 + 4 970 c.685C>T c.(685-687)Cgg>Tgg p.R229W ZBTB7B_uc009wpa.3_Missense_Mutation_p.R195W|ZBTB7B_uc001fgk.4_Missense_Mutation_p.R195W|ZBTB7B_uc010peq.2_Missense_Mutation_p.R229W|ZBTB7B_uc001fgl.4_Missense_Mutation_p.R195W NM_015872 NP_056956 O15156 ZBT7B_HUMAN Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA. 195 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) ACCGCCACCTCGGCCTGTTGC 0.657000 70 20 0 0 0.007413 0 0 KCNH5 27133 broad.mit.edu 37 14 63174948 63174948 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:63174948C>T uc001xfx.3 - 10 2296 c.2245G>A c.(2245-2247)Gga>Aga p.G749R KCNH5_uc001xfy.3_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA. 749 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ACGCTGGTTCCGGTGATGGAG 0.537000 56 36 0 0 0.002836 0 0 KRT36 8689 broad.mit.edu 37 17 39643395 39643395 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:39643395C>T uc002hwt.3 - 5 1015 c.1015G>A c.(1015-1017)Gaa>Aaa p.E339K NM_003771 NP_003762 O76013 KRT36_HUMAN Homo sapiens keratin 36 (KRT36), mRNA. 339 Coil 2.|Rod. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) GCCTCGGTTTCGGCCAGGGTG 0.622000 81 40 0 0 0.003214 0 0 LOC100499466 100499466 broad.mit.edu 37 17 66131766 66131766 + RNA SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:66131766C>T uc002jgq.3 + 5 c.10889C>T Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA. GCCGCGGAACCTTCCGCCCAG 0.692000 9 10 0 0 0.008291 0 0 BPTF 2186 broad.mit.edu 37 17 65908241 65908241 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:65908241C>T uc002jgf.3 + 10 4302 c.4241C>T c.(4240-4242)cCc>cTc p.P1414L BPTF_uc002jge.3_Missense_Mutation_p.P1540L NM_182641 NP_872579 Q12830 BPTF_HUMAN Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA. 1540 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex|cytoplasm sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) GATAATAAACCCAAAATATAT 0.274000 71 12 0 0 0.001855 0 0 ITGA2B 3674 broad.mit.edu 37 17 42452071 42452071 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:42452071G>A uc002igt.1 - 27 2931 c.2899C>T c.(2899-2901)Ccc>Tcc p.P967S ITGA2B_uc002igu.1_3'UTR NM_000419 NP_000410 P08514 ITA2B_HUMAN Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA. 967 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) ACCGCATAGGGGAGGGAGGAC 0.622000 57 30 0 0 0.002445 0 0 POLQ 10721 broad.mit.edu 37 3 121207738 121207738 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:121207738G>A uc003eee.4 - 15 4169 c.4040C>T c.(4039-4041)aCc>aTc p.T1347I POLQ_uc003eed.3_Missense_Mutation_p.T519I NM_199420 NP_955452 O75417 DPOLQ_HUMAN Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA. 1347 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TGCCAGGTTGGTGTCCTTTGC 0.423000 DNA polymerases (catalytic subunits) 108 30 0 0 0.003755 0 0 AGRN 375790 broad.mit.edu 37 1 982254 982254 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:982254G>A uc001ack.2 + 18 3355 c.3305G>A c.(3304-3306)aGg>aAg p.R1102K NM_198576 NP_940978 O00468 AGRIN_HUMAN Homo sapiens agrin (AGRN), mRNA. 1102 axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CCTGTCGAGAGGGCTTCCTGC 0.697000 9 3 0 0 0.004672 0 0 CD34 947 broad.mit.edu 37 1 208061248 208061248 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:208061248C>T uc001hgw.1 - 7 1251 c.993G>A c.(991-993)acG>acA p.T331T CD34_uc001hgv.1_Silent_p.T173T|CD34_uc001hgx.1_3'UTR|CD34_uc010psj.1_Silent_p.T196T NM_001025109 NP_001020280 P28906 CD34_HUMAN Homo sapiens CD34 molecule (CD34), transcript variant 1, mRNA. 331 cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding kidney(2)|large_intestine(2)|lung(8)|ovary(1) 13 CACCGTTTTCCGTGTAATAAG 0.557000 25 7 0 0 0.003080 0 0 ZBBX 79740 broad.mit.edu 37 3 167031806 167031806 + Missense_Mutation SNP A G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:167031806A>G uc011bpc.2 - 15 1710 c.1373T>C c.(1372-1374)cTt>cCt p.L458P ZBBX_uc003feq.3_Missense_Mutation_p.L429P|ZBBX_uc003fep.3_Missense_Mutation_p.L458P NM_001199201 NP_001186130 A8MT70 ZBBX_HUMAN Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA. 458 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TCTCAGACAAAGATTTAAGAA 0.308000 113 25 0 0 0.004656 0 0 CACNA1D 776 broad.mit.edu 37 3 53781413 53781413 + Silent SNP C T T rs139767790 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:53781413C>T uc003dgv.4 + 25 3415 c.3252C>T c.(3250-3252)ttC>ttT p.F1084F CACNA1D_uc003dgu.4_Silent_p.F1104F|CACNA1D_uc003dgy.4_Silent_p.F1084F|CACNA1D_uc003dgw.4_Silent_p.F751F|CACNA1D_uc003dgx.1_Silent_p.F232F NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 1084 Dihydropyridine binding (By similarity). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) ATTTCAACTTCGACAACGTCC 0.527000 100 51 0 0 0.003610 0 0 GLYATL2 219970 broad.mit.edu 37 11 58602019 58602019 + Silent SNP A G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:58602019A>G uc001nnd.4 - 5 899 c.768T>C c.(766-768)ttT>ttC p.F256F GLYATL2_uc009ymq.3_Silent_p.F256F NM_145016 NP_659453 Q8WU03 GLYL2_HUMAN Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA. 256 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) CATGGAAATAAAATGGGATTT 0.398000 43 20 0 0 0.001882 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51958926 51958926 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:51958926C>T uc002pwt.3 - 3 864 c.797G>A c.(796-798)gGa>gAa p.G266E SIGLEC8_uc010yda.2_Missense_Mutation_p.G157E|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.G173E NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA. 266 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TGAGCCATTTCCCAGGGCTGT 0.532000 38 20 0 0 0.008871 0 0 NPR3 4883 broad.mit.edu 37 5 32738972 32738972 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:32738972G>A uc003jhv.3 + 2 1340 c.895G>A c.(895-897)Gat>Aat p.D299N NPR3_uc010iuo.3_Missense_Mutation_p.D83N|NPR3_uc003jhw.2_Missense_Mutation_p.D83N|NPR3_uc003jhu.3_Missense_Mutation_p.D299N NM_001204375 NP_001191304 P17342 ANPRC_HUMAN Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA. 299 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) TTCCATAGGAGATGGCTCATG 0.458000 100 19 0 0 0.008871 0 0 RNASEL 6041 broad.mit.edu 37 1 182555916 182555916 + Missense_Mutation SNP G A A rs142378214 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:182555916G>A uc009wxz.2 - 1 283 c.26C>T c.(25-27)cCc>cTc p.P9L RNASEL_uc001gpk.3_Missense_Mutation_p.P9L|RNASEL_uc009wya.1_Missense_Mutation_p.P9L NM_021133 NP_066956 Q05823 RN5A_HUMAN Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA. 9 mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 TCCCTCCTGGGGGTTGTTATG 0.478000 94 50 0 0 0.003610 0 0 MUC13 56667 broad.mit.edu 37 3 124632523 124632523 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:124632523G>A uc003ehq.2 - 6 1006 c.967C>T c.(967-969)Ctt>Ttt p.L323F NM_033049 NP_149038 Q9H3R2 MUC13_HUMAN Homo sapiens mucin 13, cell surface associated (MUC13), mRNA. 323 EGF-like 2. extracellular region|integral to membrane|plasma membrane p.T322T(1) breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 TCACACCGAAGGGTCACTGAG 0.413000 27 8 0 0 0.006214 0 0 AKAP9 10142 broad.mit.edu 37 7 91722539 91722539 + Nonsense_Mutation SNP G T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:91722539G>T uc003ulg.3 + 38 9712 c.9487G>T c.(9487-9489)Gaa>Taa p.E3163* AKAP9_uc003ulf.3_Nonsense_Mutation_p.E3155*|AKAP9_uc003uli.3_Nonsense_Mutation_p.E2786*|AKAP9_uc003ulj.3_Nonsense_Mutation_p.E933*|AKAP9_uc003ull.3_Nonsense_Mutation_p.E59* NM_005751 NP_005742 Q99996 AKAP9_HUMAN Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA. 3167 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport Golgi apparatus|centrosome|cytosol receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GGTGGTTGCTGAACTGAAGAG 0.463000 T BRAF papillary thyroid 55 27 1.2476e-16 1.77461e-16 0.006320 1 0 PROM2 150696 broad.mit.edu 37 2 95952903 95952903 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:95952903C>T uc002suk.3 + 18 2250 c.2117C>T c.(2116-2118)gCc>gTc p.A706V PROM2_uc002suh.2_Missense_Mutation_p.A706V|PROM2_uc002sui.3_Missense_Mutation_p.A706V|PROM2_uc002suj.3_Missense_Mutation_p.A360V|PROM2_uc002sul.3_Missense_Mutation_p.A232V|PROM2_uc002sum.3_Non-coding_Transcript NM_001165977 NP_653308 Q8N271 PROM2_HUMAN Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA. 706 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 GATGTCCTAGCCAATGTCACC 0.572000 28 5 0 0 0.003080 0 0 C12orf12 196477 broad.mit.edu 37 12 91348192 91348192 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:91348192G>A uc001tbj.3 - 0 762 c.328C>T c.(328-330)Cgg>Tgg p.R110W NM_152638 NP_689851 Q8TC90 CL012_HUMAN Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA. 110 NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 27 CCATACACCCGAAACACTTGC 0.647000 33 10 0 0 0.006214 0 0 OR52E6 390078 broad.mit.edu 37 11 5862489 5862489 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:5862489G>A uc010qzq.2 - 0 639 c.639C>T c.(637-639)ctC>ctT p.L213L TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA. 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAATAATAAGGAGCACATCCA 0.488000 25 11 0 0 0.008291 0 0 PGAP1 80055 broad.mit.edu 37 2 197777762 197777762 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:197777762G>A uc002utw.3 - 3 607 c.493C>T c.(493-495)Cca>Tca p.P165S PGAP1_uc002utx.3_5'UTR|PGAP1_uc002uty.1_Missense_Mutation_p.P165S|PGAP1_uc010zgv.1_Non-coding_Transcript|PGAP1_uc010fsj.2_5'UTR NM_024989 NP_079265 Q75T13 PGAP1_HUMAN Homo sapiens post-GPI attachment to proteins 1 (PGAP1), mRNA. 165 C-terminal protein lipidation|attachment of GPI anchor to protein|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 ACACTTTTTGGAGCAAATTCT 0.323000 35 17 0 0 0.007413 0 0 MORC2 22880 broad.mit.edu 37 22 31324111 31324111 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr22:31324111G>A uc003aje.1 - 25 4103 c.2739C>T c.(2737-2739)gcC>gcT p.A913A NM_014941 NP_055756 Q9Y6X9 MORC2_HUMAN Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA. 975 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 TTTCCTCGGAGGCCTTGGCCC 0.577000 53 23 0 0 0.002780 0 0 TECPR1 25851 broad.mit.edu 37 7 97862948 97862948 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:97862948G>A uc003upg.3 - 10 1662 c.1457C>T c.(1456-1458)cCc>cTc p.P486L TECPR1_uc003uph.1_Missense_Mutation_p.P416L NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA. 486 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ATTGGTCCAGGGCAGCTCGGC 0.682000 47 27 0 0 0.007291 0 0 GIMAP6 474344 broad.mit.edu 37 7 150327227 150327227 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:150327227C>T uc022apv.1 - 1 484 c.4G>A c.(4-6)Gag>Aag p.E2K GIMAP6_uc003whn.3_Missense_Mutation_p.E2K|GIMAP6_uc003whm.3_Missense_Mutation_p.E2K NM_001244072 NP_001231001 Q6P9H5 GIMA6_HUMAN Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA. 2 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCTTCTTCCTCCATCTACaaa 0.423000 67 31 0 0 0.007291 0 0 FOXI1 2299 broad.mit.edu 37 5 169535405 169535405 + Missense_Mutation SNP T G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:169535405T>G uc003mai.4 + 1 972 c.927T>G c.(925-927)agT>agG p.S309R FOXI1_uc003maj.4_Missense_Mutation_p.S214R NM_012188 NP_036320 Q12951 FOXI1_HUMAN Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA. 309 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity 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|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTGAGCCCAGTGACAAGACGG 0.612000 Pendred syndrome 50 18 0 0 0.004990 0 0 LTF 4057 broad.mit.edu 37 3 46497310 46497310 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:46497310C>T uc003cpq.3 - 3 716 c.475G>A c.(475-477)Ggt>Agt p.G159S LTF_uc003fzr.3_Missense_Mutation_p.G115S|LTF_uc010hjh.3_Missense_Mutation_p.G159S|LTF_uc003cpr.3_Missense_Mutation_p.G146S NM_002343 NP_001186078 P02788 TRFL_HUMAN Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA. 159 Transferrin-like 1. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) TCAGGTGGACCCGTCCAATTC 0.562000 40 18 0 0 0.008871 0 0 ZNF215 7762 broad.mit.edu 37 11 6977075 6977075 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:6977075C>T uc001mey.3 + 6 1455 c.867C>T c.(865-867)ttC>ttT p.F289F ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Silent_p.F51F|ZNF215_uc001mez.1_Intron NM_013250 NP_037382 Q9UL58 ZN215_HUMAN Homo sapiens zinc finger protein 215 (ZNF215), mRNA. 289 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) AAGAGGCTTTCATTCCTGAGA 0.363000 86 38 0 0 0.006230 0 0 DICER1 23405 broad.mit.edu 37 14 95560482 95560482 + Missense_Mutation SNP G T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:95560482G>T uc001ydw.2 - 24 5319 c.5107C>A c.(5107-5109)Cgc>Agc p.R1703S DICER1_uc010avh.1_Missense_Mutation_p.R601S|DICER1_uc021sbc.1_Missense_Mutation_p.R1703S|DICER1_uc001ydv.2_Missense_Mutation_p.R1693S|DICER1_uc001ydx.2_Missense_Mutation_p.R1703S NM_030621 NP_803187 Q9UPY3 DICER_HUMAN Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA. 1703 RNase III 2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference RNA-induced silencing complex|cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity p.R1703C(4) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) AATTCTAAGCGCTGGTAACAA 0.517000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 92 23 3.28513e-13 4.65177e-13 0.003954 1 0 SPEF2 79925 broad.mit.edu 37 5 35792480 35792480 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:35792480G>A uc003jjo.3 + 30 4597 c.4486G>A c.(4486-4488)Gat>Aat p.D1496N SPEF2_uc003jjp.1_Missense_Mutation_p.D982N|SPEF2_uc003jjr.3_Missense_Mutation_p.D551N NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 1496 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CATTCTGATCGATTTGGTGAC 0.358000 47 20 0 0 0.001523 0 0 GPR139 124274 broad.mit.edu 37 16 20043519 20043519 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:20043519G>A uc002dgu.1 - 1 762 c.600C>T c.(598-600)ttC>ttT p.F200F GPR139_uc010vaw.1_Silent_p.F107F NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA. 200 integral to membrane|plasma membrane p.F200L(2) autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 AGTTCAAGATGAAGAAGATGG 0.507000 43 17 0 0 0.007413 0 0 SCARA5 286133 broad.mit.edu 37 8 27737264 27737264 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:27737264C>T uc003xgj.3 - 7 1784 c.1173G>A c.(1171-1173)atG>atA p.M391I SCARA5_uc010luz.3_Missense_Mutation_p.M166I NM_173833 NP_776194 Q6ZMJ2 SCAR5_HUMAN Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA. 391 cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity p.M391V(1) central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3) 18 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) GGCGGATCATCATCGGGGCCT 0.652000 45 13 0 0 0.002450 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140731709 140731709 + Silent SNP T C C TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:140731709T>C uc003ljo.2 + 0 1882 c.1882T>C c.(1882-1884)Ttg>Ctg p.L628L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.L628L NM_018922 NP_061745 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA. 634 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCGCGTGCCTTGGGCGACAG 0.697000 37 9 0 0 0.001368 0 0 TMEM38B 55151 broad.mit.edu 37 9 108467950 108467950 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr9:108467950G>A uc004bcu.1 + 1 302 c.185G>A c.(184-186)gGa>gAa p.G62E TMEM38B_uc010mtn.1_Missense_Mutation_p.G62E NM_018112 NP_060582 Q9NVV0 TM38B_HUMAN Homo sapiens transmembrane protein 38B (TMEM38B), mRNA. 62 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 TTTGGTGGAGGAATTTTATCC 0.423000 50 31 0 0 0.002836 0 0 SCAND3 114821 broad.mit.edu 37 6 28540229 28540229 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:28540229C>T uc003nlo.3 - 3 4055 c.3437G>A c.(3436-3438)aGa>aAa p.R1146K NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 1146 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 tgtagaaattctgtttttcca 0.308000 58 31 0 0 0.002836 0 0 PXDNL 137902 broad.mit.edu 37 8 52339295 52339295 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:52339295G>A uc003xqu.4 - 12 1650 c.1549C>T c.(1549-1551)Cct>Tct p.P517S NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 517 Ig-like C2-type 4. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GTATCCTGAGGAAGTTGAGTA 0.368000 21 6 0 0 0.001168 0 0 KCTD13 253980 broad.mit.edu 37 16 29923187 29923187 + Splice_Site SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:29923187G>A uc002duv.3 - 4 696 c.505_splice c.e4-1 p.P169_splice BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Intron|ASPHD1_uc010bzi.2_Intron|KCTD13_uc021tge.1_Splice_Site NM_178863 NP_849194 Q8WZ19 BACD1_HUMAN Homo sapiens potassium channel tetramerisation domain containing 13 (KCTD13), mRNA. 169 DNA replication|cell migration|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 7 CTTCACCACGGGCTGGCGGGG 0.677000 38 20 0 0 0.003330 0 0 PCDH18 54510 broad.mit.edu 37 4 138449647 138449647 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:138449647C>T uc003ihe.4 - 2 3112 c.2725G>A c.(2725-2727)Gga>Aga p.G909R PCDH18_uc003ihf.4_Missense_Mutation_p.G901R|PCDH18_uc011cgz.2_Missense_Mutation_p.G120R|PCDH18_uc003ihg.4_Missense_Mutation_p.G688R|PCDH18_uc011cha.2_Missense_Mutation_p.G89R NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 909 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GGAATTCTTCCATCTGTGAGA 0.418000 161 57 0 0 0.003610 0 0 BANK1 55024 broad.mit.edu 37 4 102994868 102994868 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:102994868G>A uc003hvy.4 + 15 2600 c.2326G>A c.(2326-2328)Gaa>Aaa p.E776K BANK1_uc003hvx.4_Missense_Mutation_p.E761K|BANK1_uc010ill.3_Missense_Mutation_p.E643K|BANK1_uc003hvz.4_Missense_Mutation_p.E746K NM_017935 NP_001077376 Q8NDB2 BANK1_HUMAN Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA. 776 B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) AGTTGAAAAGGAATTTGGTTT 0.328000 52 17 0 0 0.007413 0 0 PTCHD4 442213 broad.mit.edu 37 6 47847147 47847147 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:47847147G>A uc011dwm.2 - 2 1467 c.1433C>T c.(1432-1434)tCc>tTc p.S478F PTCHD4_uc011dwn.2_Missense_Mutation_p.S225F NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA. 478 integral to membrane hedgehog receptor activity CCCCATGAAGGAGAAGGAGGC 0.413000 26 14 0 0 0.001855 0 0 SCN4A 6329 broad.mit.edu 37 17 62018757 62018757 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:62018757G>A uc002jds.1 - 23 4962 c.4885C>T c.(4885-4887)Ccc>Tcc p.P1629S NM_000334 NP_000325 P35499 SCN4A_HUMAN Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA. 1629 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GTGGCGTCGGGGTCGAACTTC 0.552000 51 9 0 0 0.004482 0 0 FLT3 2322 broad.mit.edu 37 13 28589742 28589742 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr13:28589742C>T uc001urw.3 - 20 2720 c.2638G>A c.(2638-2640)Gaa>Aaa p.E880K FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.E839K NM_004119 NP_004110 P36888 FLT3_HUMAN Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA. 880 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) GAGAAGATTTCCCACAGTAAT 0.547000 """Mis, O""" """AML, ALL""" 92 30 0 0 0.008361 0 0 POF1B 79983 broad.mit.edu 37 X 84570718 84570718 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:84570718C>T uc004eer.2 - 7 1023 c.877G>A c.(877-879)Gat>Aat p.D293N POF1B_uc004ees.3_Missense_Mutation_p.D293N NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN Homo sapiens premature ovarian failure, 1B (POF1B), mRNA. 293 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 CTTACCTCATCTGTAGACTCA 0.284000 16 17 0 0 0.001523 0 0 SCN3A 6328 broad.mit.edu 37 2 166032796 166032796 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:166032796G>A uc002ucx.3 - 2 601 c.109C>T c.(109-111)Ccc>Tcc p.P37S SCN3A_uc002ucy.3_Missense_Mutation_p.P37S|SCN3A_uc002ucz.3_Missense_Mutation_p.P37S NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA. 37 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TCCTTTTTGGGCTTCTTGGCT 0.438000 131 34 0 0 0.003755 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144877207 144877207 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:144877207C>T uc021ouh.1 - 27 4782 c.4480G>A c.(4480-4482)Gaa>Aaa p.E1494K NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.E1494K|PDE4DIP_uc001elx.4_Missense_Mutation_p.E1450K|PDE4DIP_uc001elv.4_Missense_Mutation_p.E501K NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 1494 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CCTCTCCCTTCTCGTATTTTT 0.428000 T PDGFRB MPD 123 21 0 0 0.004656 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24242035 24242035 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:24242035C>T uc003xdz.2 + 0 238 c.18C>T c.(16-18)tcC>tcT p.S6S ADAMDEC1_uc010lub.2_5'UTR|ADAMDEC1_uc011lab.1_5'UTR NM_014479 NP_001138744 O15204 ADEC1_HUMAN Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA. 6 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) GTGGGATCTCCCAGCTACCTG 0.458000 22 11 0 0 0.000978 0 0 ANKRD12 23253 broad.mit.edu 37 18 9258394 9258394 + Missense_Mutation SNP A G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr18:9258394A>G uc002knv.3 + 8 5393 c.5129A>G c.(5128-5130)tAt>tGt p.Y1710C ANKRD12_uc002knw.3_Missense_Mutation_p.Y1687C|ANKRD12_uc002knx.3_Missense_Mutation_p.Y1687C|ANKRD12_uc010dkx.1_Missense_Mutation_p.Y1417C NM_015208 NP_056023 Q6UB98 ANR12_HUMAN Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA. 1710 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 ATGCATAAATATGGTCAGTTA 0.338000 28 3 0 0 0.004672 0 0 SDHAP3 728609 broad.mit.edu 37 5 1593261 1593261 + Missense_Mutation SNP A T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:1593261A>T uc010itg.1 - 1 276 c.199T>A c.(199-201)Tgt>Agt p.C67S SDHAP3_uc011cme.2_Non-coding_Transcript Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA. CTCAGGGCACATGCCTGACCA 0.542000 36 4 0 0 0.000602 0 0 OR10S1 219873 broad.mit.edu 37 11 123848078 123848078 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:123848078G>A uc001pzm.1 - 0 321 c.321C>T c.(319-321)tcC>tcT p.S107S NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA. 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) AGCCCTCAAAGGAGATCACCT 0.542000 24 10 0 0 0.001368 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307278 39307278 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:39307278G>A uc021wwc.1 - 1 859 c.819C>T c.(817-819)ttC>ttT p.F273F CX3CR1_uc021wwa.1_Silent_p.F241F|CX3CR1_uc021wwb.1_Silent_p.F241F|CX3CR1_uc003cjl.3_Silent_p.F241F|CX3CR1_uc021wwd.1_Silent_p.F241F NM_001171174 NP_001164645 P49238 CX3C1_HUMAN Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA. 241 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) TCCAGAAGAGGAAAAACACGA 0.458000 80 45 0 0 0.002222 0 0 APLP2 334 broad.mit.edu 37 11 130011963 130011963 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:130011963C>T uc010sby.2 + 16 2341 c.2184C>T c.(2182-2184)atC>atT p.I728I APLP2_uc001qfp.3_Silent_p.I716I|APLP2_uc001qfq.3_Silent_p.I660I|APLP2_uc010sbz.2_Silent_p.I516I|APLP2_uc001qfr.3_Silent_p.I482I|APLP2_uc001qfs.3_Silent_p.I487I|APLP2_uc021qsg.1_Silent_p.I726I|APLP2_uc001qfv.3_Silent_p.I619I|APLP2_uc009zcv.3_Silent_p.I76I NM_001642 NP_001633 Q06481 APLP2_HUMAN Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA. 728 G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) GCCACGGGATCGTGGAGGTGA 0.592000 19 12 0 0 0.001368 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13928164 13928164 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:13928164C>T uc002mxh.1 + 6 1504 c.1315C>T c.(1315-1317)Cca>Tca p.P439S ZSWIM4_uc010xng.1_Missense_Mutation_p.P362S NM_023072 NP_075560 Q9H7M6 ZSWM4_HUMAN Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA. 439 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) TACCCTTTACCCAGGTACTCA 0.632000 32 19 0 0 0.001523 0 0 SUN5 140732 broad.mit.edu 37 20 31583446 31583446 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr20:31583446C>T uc002wyi.3 - 7 606 c.513G>A c.(511-513)gaG>gaA p.E171E NM_080675 NP_542406 Q8TC36 SUN5_HUMAN Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA. 171 spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 TGGCTTCCATCTCCTGGAGCT 0.498000 180 98 0 0 0.003610 0 0 DRGX 644168 broad.mit.edu 37 10 50594858 50594858 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:50594858C>T uc010qgq.2 - 3 296 c.296G>A c.(295-297)gGg>gAg p.G99E DRGX_uc021pqd.1_Missense_Mutation_p.G94E NM_001080520 NP_001073989 C9JW76 C9JW76_HUMAN Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA. 99 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 GTCTGAGGCCCCTCTCTCTGT 0.567000 180 47 0 0 0.003610 0 0 KIAA1407 57577 broad.mit.edu 37 3 113724706 113724706 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:113724706G>A uc003eax.3 - 9 1664 c.1517C>T c.(1516-1518)tCc>tTc p.S506F KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Missense_Mutation_p.S484F|KIAA1407_uc011bip.1_Missense_Mutation_p.S493F NM_020817 NP_065868 Q8NCU4 K1407_HUMAN Homo sapiens KIAA1407 (KIAA1407), mRNA. 506 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 ATTCTGAAGGGAACCCTGCAA 0.547000 105 69 0 0 0.003610 0 0 RLTPR 146206 broad.mit.edu 37 16 67685733 67685733 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:67685733C>T uc002etn.3 + 24 2693 c.2573C>T c.(2572-2574)gCc>gTc p.A858V RLTPR_uc010cel.1_Missense_Mutation_p.A851V|RLTPR_uc010vjr.2_Missense_Mutation_p.A822V|RLTPR_uc010vjs.1_5'Flank NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA. 858 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CTGCAAGATGCCTTCActagg 0.647000 22 17 0 0 0.004007 0 0 LRP5 4041 broad.mit.edu 37 11 68125199 68125199 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:68125199G>A uc001ont.3 + 2 645 c.570G>A c.(568-570)gtG>gtA p.V190V LRP5_uc009ysg.3_5'UTR NM_002335 NP_002326 O75197 LRP5_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA. 190 Beta-propeller 1. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AGATCATTGTGGACTCGGACA 0.602000 20 14 0 0 0.003163 0 0 LIMK2 3985 broad.mit.edu 37 22 31656015 31656015 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr22:31656015C>T uc003akh.3 + 4 648 c.503C>T c.(502-504)tCc>tTc p.S168F LIMK2_uc003aki.3_Intron|LIMK2_uc003akj.3_Missense_Mutation_p.S147F|LIMK2_uc003akk.3_Missense_Mutation_p.S147F|LIMK2_uc011aln.2_Missense_Mutation_p.S85F NM_005569 NP_005560 P53671 LIMK2_HUMAN Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA. 168 PDZ. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 TTCTCCGTGTCCGTGGAGAGT 0.552000 82 23 0 0 0.006320 0 0 C9orf72 203228 broad.mit.edu 37 9 27556764 27556764 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr9:27556764G>A uc003zqq.2 - 7 983 c.886C>T c.(886-888)Cgg>Tgg p.R296W C9orf72_uc022bfa.1_Missense_Mutation_p.R296W NM_018325 NP_060795 Q96LT7 CI072_HUMAN Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 2, mRNA. 296 breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1) 23 all_neural(11;7.57e-10) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016) ATGACTTGCCGGAAAGGCAGC 0.373000 71 71 0 0 0.003610 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962799 73962799 + Silent SNP T C C TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:73962799T>C uc004eby.3 - 2 2210 c.1593A>G c.(1591-1593)gtA>gtG p.V531V NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 531 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 CCTTACGGGTTACTTTTCTTC 0.423000 17 18 0 0 0.004990 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537283 5537283 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:5537283C>T uc001maz.4 - 0 674 c.389G>A c.(388-390)gGa>gAa p.G130E HBG1_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN Homo sapiens ubiquilin-like (UBQLNL), mRNA. 130 p.K129E(1) endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) GCTGCTGTTTCCTTTGGTGTT 0.532000 60 30 0 0 0.001786 0 0 MAP7 9053 broad.mit.edu 37 6 136686891 136686891 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:136686891C>T uc011edg.2 - 9 1594 c.1345G>A c.(1345-1347)Gaa>Aaa p.E449K MAP7_uc011edf.2_Missense_Mutation_p.E404K|MAP7_uc010kgu.3_Missense_Mutation_p.E441K|MAP7_uc011edh.2_Missense_Mutation_p.E404K|MAP7_uc010kgv.3_Missense_Mutation_p.E441K|MAP7_uc010kgs.3_Missense_Mutation_p.E273K|MAP7_uc011edi.2_Missense_Mutation_p.E273K|MAP7_uc010kgq.2_Missense_Mutation_p.E325K|MAP7_uc003qgz.3_Missense_Mutation_p.E419K|MAP7_uc003qha.2_Missense_Mutation_p.E382K|MAP7_uc010kgr.2_Missense_Mutation_p.E273K NM_001198609 NP_001185538 Q14244 MAP7_HUMAN Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA. 419 Pro-rich. establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) ACTTCTGGTTCAGCAGGTGTC 0.478000 36 28 0 0 0.007291 0 0 NRXN1 9378 broad.mit.edu 37 2 50723137 50723137 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:50723137C>T uc021vhh.1 - 13 3897 c.2976G>A c.(2974-2976)atG>atA p.M992I NRXN1_uc002rxb.4_Missense_Mutation_p.M664I|NRXN1_uc021vhg.1_Missense_Mutation_p.M1032I|NRXN1_uc021vhi.1_Missense_Mutation_p.M1028I|NRXN1_uc021vhj.1_Missense_Mutation_p.M988I|NRXN1_uc002rxc.1_Non-coding_Transcript NM_004801 NP_004792 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA. 992 Laminin G-like 5. 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 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) CCCTTGATATCATCACGTTGT 0.438000 34 5 0 0 0.001984 0 0 ZNF643 65243 broad.mit.edu 37 1 40929142 40929142 + Missense_Mutation SNP A G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:40929142A>G uc001cfn.2 + 4 1783 c.1486A>G c.(1486-1488)Att>Gtt p.I496V ZNF643_uc001cfl.2_Missense_Mutation_p.I394V|ZNF643_uc001cfm.2_Missense_Mutation_p.I362V NM_023070 NP_075558 Q9UJL9 ZN643_HUMAN Homo sapiens zinc finger protein 643 (ZNF643), mRNA. 496 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.25e-18) ACATCAGAGAATTCATACTGG 0.373000 34 12 0 0 0.001368 0 0 SPTBN1 6711 broad.mit.edu 37 2 54873100 54873100 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:54873100C>T uc002rxu.3 + 21 4779 c.4530C>T c.(4528-4530)tcC>tcT p.S1510S SPTBN1_uc002rxx.3_Silent_p.S1497S NM_003128 NP_003119 Q01082 SPTB2_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA. 1510 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) TGGCAACTTCCACGGATCATG 0.438000 79 25 0 0 0.005443 0 0 ZFPM2 23414 broad.mit.edu 37 8 106800990 106800990 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:106800990G>A uc003ymd.3 + 5 600 c.577G>A c.(577-579)Gaa>Aaa p.E193K ZFPM2_uc011lhs.2_5'UTR NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 193 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CTCTGAGGGTGAAGAGCTAAT 0.458000 77 39 0 0 0.002852 0 0 DLGAP2 9228 broad.mit.edu 37 8 1575016 1575016 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:1575016C>T uc003wpl.3 + 3 1410 c.1313C>T c.(1312-1314)gCc>gTc p.A438V DLGAP2_uc003wpm.3_Missense_Mutation_p.A438V NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA. 517 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) TACATGAGGGCCGTCAGCACC 0.657000 12 3 0 0 0.004672 0 0 YTHDC1 91746 broad.mit.edu 37 4 69203412 69203412 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:69203412G>A uc003hdx.3 - 2 690 c.337C>T c.(337-339)Cgg>Tgg p.R113W YTHDC1_uc003hdy.3_Missense_Mutation_p.R113W NM_001031732 NP_001026902 Q96MU7 YTDC1_HUMAN Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA. 113 NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 CGAATTTTCCGATCAGCATCT 0.388000 64 19 0 0 0.008871 0 0 CD59 966 broad.mit.edu 37 11 33743976 33743976 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:33743976C>T uc001mus.4 - 0 298 c.16G>A c.(16-18)Ggg>Agg p.G6R CD59_uc009yjx.3_Missense_Mutation_p.G6R|CD59_uc009yjy.3_Missense_Mutation_p.G6R|CD59_uc009yjz.3_Missense_Mutation_p.G6R|CD59_uc001mut.4_Missense_Mutation_p.G6R|CD59_uc009yka.3_Missense_Mutation_p.G6R|CD59_uc001muu.4_Missense_Mutation_p.G6R|CD59_uc001muv.4_Missense_Mutation_p.G6R NM_001127223 NP_976076 P13987 CD59_HUMAN Homo sapiens CD59 molecule, complement regulatory protein (CD59), transcript variant 5, mRNA. 6 blood coagulation|cell surface receptor linked signaling pathway anchored to external side of plasma membrane|extracellular region|membrane fraction endometrium(1)|lung(2) 3 AGGACAGACCCTCCTTGGATT 0.522000 54 7 0 0 0.001984 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121651577 121651577 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:121651577C>T uc003vjy.3 + 11 2872 c.2477C>T c.(2476-2478)tCc>tTc p.S826F PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA. 826 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 TCCTCTGCTTCCTTCAGTAGT 0.458000 173 69 0 0 0.003610 0 0 CELA3B 23436 broad.mit.edu 37 1 22329551 22329551 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:22329551G>A uc001bfl.3 + 1 118 c.99G>A c.(97-99)gaG>gaA p.E33E CELA3B_uc009vqf.3_Intron NM_005747 NP_005738 P08861 CEL3B_HUMAN Homo sapiens chymotrypsin-like elastase family, member 3A (CELA3A), mRNA. 33 Peptidase S1. cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 TCCATGGTGAGGATGCGGTCC 0.602000 83 45 0 0 0.003610 0 0 CDC27 996 broad.mit.edu 37 17 45221283 45221283 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:45221283G>A uc002ile.4 - 9 1281 c.1154C>T c.(1153-1155)tCa>tTa p.S385L CDC27_uc002ild.4_Missense_Mutation_p.S379L|CDC27_uc002ilf.4_Missense_Mutation_p.S379L|CDC27_uc010wkp.2_Missense_Mutation_p.S318L|CDC27_uc010wkq.1_Intron NM_001114091 NP_001107563 P30260 CDC27_HUMAN Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA. 379 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 AAAGAGTCGTGAACTTCTTCG 0.373000 25 12 0 0 0.001855 0 0 PDE6B 5158 broad.mit.edu 37 4 628613 628613 + Missense_Mutation SNP G A A rs140444984 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:628613G>A uc003gap.3 + 1 669 c.616G>A c.(616-618)Gaa>Aaa p.E206K PDE6B_uc003gao.4_Missense_Mutation_p.E206K NM_000283 NP_001138764 P35913 PDE6B_HUMAN Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA. 206 GAF 1. GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CAGCGAAGACGAAGATGTGAG 0.602000 55 12 0 0 0.004007 0 0 KLC1 3831 broad.mit.edu 37 14 104124103 104124103 + Missense_Mutation SNP T C C TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:104124103T>C uc001yno.3 + 2 790 c.482T>C c.(481-483)aTt>aCt p.I161T KLC1_uc010tyd.1_Missense_Mutation_p.I320T|KLC1_uc010tye.1_Missense_Mutation_p.I157T|KLC1_uc001ynm.1_Missense_Mutation_p.I161T|KLC1_uc010tyf.2_Missense_Mutation_p.I161T NM_182923 NP_891553 Q07866 KLC1_HUMAN Homo sapiens kinesin light chain 1 (KLC1), transcript variant 2, mRNA. 161 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding KLC1/ALK(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 12 Melanoma(154;0.155)|all_epithelial(191;0.19) GATGACGACATTTCCCCATCC 0.428000 15 10 0 0 0.006214 0 0 EXD3 54932 broad.mit.edu 37 9 140218287 140218287 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr9:140218287C>T uc004cmp.2 - 18 2270 c.2074G>A c.(2074-2076)Ggg>Agg p.G692R EXD3_uc010ncf.1_Missense_Mutation_p.G343R NM_017820 NP_060290 Q8N9H8 MUT7_HUMAN Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA. 692 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 AGGCAGCGCCCAGCCCCGACC 0.672000 15 16 0 0 0.003163 0 0 C15orf33 196951 broad.mit.edu 37 15 49882204 49882204 + Splice_Site SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr15:49882204C>T uc001zxl.2 - 4 400 c.106_splice c.e4-1 p.D36_splice C15orf33_uc001zxm.3_Splice_Site_p.D36_splice NM_152647 NP_689860 Q96M60 CO033_HUMAN Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA. 36 endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 25 all_lung(180;0.00187) all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124) GGCCAATAATCCTGCAAAAAA 0.284000 33 11 0 0 0.008291 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21008007 21008007 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:21008007G>A uc010sil.2 + 1 195 c.130G>A c.(130-132)Ggt>Agt p.G44S SLCO1B3_uc001rek.3_Missense_Mutation_p.G44S|SLCO1B3_uc001rel.3_Missense_Mutation_p.G44S|SLCO1B3_uc010sim.2_Missense_Mutation_p.G44S Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 44 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity p.G44C(2)|p.G44G(1) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) TAAAGCACTAGGTGGAATCAT 0.318000 25 18 0 0 0.001523 0 0 ADH1A 124 broad.mit.edu 37 4 100203746 100203746 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:100203746G>A uc003hur.2 - 5 699 c.585C>T c.(583-585)acC>acT p.T195T LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'UTR NM_000667 NP_000658 P07327 ADH1A_HUMAN Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA. 195 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding p.T195T(2) endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) ACACAGCACAGGTAGAGCCTG 0.458000 130 71 0 0 0.003610 0 0 KSR2 283455 broad.mit.edu 37 12 118198936 118198936 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:118198936C>T uc001two.2 - 3 834 c.779G>A c.(778-780)gGg>gAg p.G260E NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 289 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CGGTGGGGTCCCCGGGGGCTT 0.677000 391 127 0 0 0.003610 0 0 TRIM3 10612 broad.mit.edu 37 11 6477540 6477540 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:6477540G>A uc001mdh.3 - 6 1812 c.1416C>T c.(1414-1416)ctC>ctT p.L472L TRIM3_uc001mdi.3_Silent_p.L472L|TRIM3_uc010raj.2_Silent_p.L353L|TRIM3_uc009yfd.3_Silent_p.L472L|TRIM3_uc010rak.1_Silent_p.L472L|TRIM3_uc001mdj.2_Silent_p.L353L NM_006458 NP_006449 O75382 TRIM3_HUMAN Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA. 472 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding p.L472L(2) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACGGAAGACGAGCTCATCCT 0.607000 44 26 0 0 0.005443 0 0 MYO5C 55930 broad.mit.edu 37 15 52517715 52517715 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr15:52517715G>A uc010bff.3 - 25 3384 c.3222C>T c.(3220-3222)ttC>ttT p.F1074F MYO5C_uc010uga.2_Non-coding_Transcript NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN Homo sapiens myosin VC (MYO5C), mRNA. 1074 myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TCTCTTTTTCGAACTCAGAGA 0.368000 90 39 0 0 0.002222 0 0 TPTE 7179 broad.mit.edu 37 21 10906979 10906979 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr21:10906979G>A uc002yip.1 - 23 1950 c.1582C>T c.(1582-1584)Cca>Tca p.P528S TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.P510S|TPTE_uc002yir.1_Missense_Mutation_p.P490S|TPTE_uc010gkv.1_Missense_Mutation_p.P390S NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 528 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.D527N(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAATCTGATGGATAAATTCTC 0.368000 44 7 0 0 0.003080 0 0 YME1L1 10730 broad.mit.edu 37 10 27434373 27434373 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:27434373G>A uc001iti.3 - 3 696 c.486C>T c.(484-486)ttC>ttT p.F162F YME1L1_uc001itj.3_Silent_p.F105F|YME1L1_uc010qdl.2_Silent_p.F105F|YME1L1_uc001itk.2_3'UTR NM_139312 NP_647473 Q96TA2 YMEL1_HUMAN Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 162 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 TATTTTCAAAGAAGGATTGTG 0.318000 39 16 0 0 0.004990 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4457109 4457109 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:4457109G>A uc002fxz.4 - 4 619 c.557C>T c.(556-558)tCc>tTc p.S186F MYBBP1A_uc002fyb.4_Missense_Mutation_p.S186F NM_001105538 NP_001099008 Q9BQG0 MBB1A_HUMAN Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA. 186 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent NLS-dependent protein nuclear import complex|cytoplasm|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 TCATACCTCGGAGAGGATGTC 0.587000 28 5 0 0 0.001168 0 0 PPARA 5465 broad.mit.edu 37 22 46594430 46594430 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr22:46594430C>T uc003bhb.1 + 1 273 c.150C>T c.(148-150)ggC>ggT p.G50G PPARA_uc003bgw.1_Silent_p.G50G|PPARA_uc003bgx.1_Silent_p.G50G|PPARA_uc010hab.1_Silent_p.G50G|PPARA_uc003bgy.1_Non-coding_Transcript|PPARA_uc003bgz.1_Non-coding_Transcript|PPARA_uc003bha.3_Silent_p.G50G|PPARA_uc010hac.1_5'UTR NM_005036 NP_005027 Q07869 PPARA_HUMAN Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA. 50 fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) GAAGCTTTGGCTTTACGGAAT 0.453000 103 43 0 0 0.003610 0 0 TOP2B 7155 broad.mit.edu 37 3 25674191 25674191 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:25674191G>A uc011awn.1 - 8 1164 c.1121C>T c.(1120-1122)cCa>cTa p.P374L TOP2B_uc003cdj.2_Missense_Mutation_p.P369L|TOP2B_uc021wug.1_Missense_Mutation_p.P369L NM_001068 NP_001059 Q02880 TOP2B_HUMAN Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA. 374 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 TACTTGAAATGGTTTCACTGA 0.333000 98 36 0 0 0.004289 0 0 PES1 23481 broad.mit.edu 37 22 30976584 30976584 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr22:30976584G>A uc003aij.2 - 9 1124 c.1017C>T c.(1015-1017)ccC>ccT p.P339P PES1_uc003aik.2_Silent_p.P334P|PES1_uc003aio.1_Silent_p.P200P|PES1_uc003ain.1_Silent_p.P200P NM_014303 NP_055118 O00541 PESC_HUMAN Homo sapiens pescadillo homolog 1, containing BRCT domain (zebrafish) (PES1), transcript variant 1, mRNA. 339 BRCT.|Sufficient for interaction with MAP1B (By similarity). cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle PeBoW complex|chromosome|nucleoplasm|preribosome, large subunit precursor protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 29 GGGCCTCACGGGGCACCTCTC 0.612000 78 25 0 0 0.002780 0 0 SSX7 280658 broad.mit.edu 37 X 52677369 52677369 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:52677369C>T uc004dqx.1 - 5 567 c.408G>A c.(406-408)ggG>ggA p.G136G NM_173358 NP_775494 Q7RTT5 SSX7_HUMAN Homo sapiens synovial sarcoma, X breakpoint 7 (SSX7), mRNA. 136 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1) 16 Ovarian(276;0.236) ACAGGTGTTTCCCATCGTTCT 0.483000 59 87 0 0 0.003610 0 0 ZDBF2 57683 broad.mit.edu 37 2 207173765 207173765 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:207173765C>T uc002vbp.2 + 4 4763 c.4513C>T c.(4513-4515)Cct>Tct p.P1505S NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 1505 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TTCTGATGTTCCTTTTCAAAT 0.413000 48 16 0 0 0.004990 0 0 CDX4 1046 broad.mit.edu 37 X 72667348 72667348 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:72667348C>T uc011mqk.2 + 0 259 c.259C>T c.(259-261)Cct>Tct p.P87S NM_005193 NP_005184 O14627 CDX4_HUMAN Homo sapiens caudal type homeobox 4 (CDX4), mRNA. 87 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) GAGCGTGTATCCTGGGCCGTC 0.612000 16 16 0 0 0.008871 0 0 ITGB3 3690 broad.mit.edu 37 17 45369775 45369775 + Missense_Mutation SNP G A A rs150951945 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:45369775G>A uc002ilj.3 + 9 1551 c.1531G>A c.(1531-1533)Gaa>Aaa p.E511K ITGB3_uc010wkr.1_Non-coding_Transcript NM_000212 NP_000203 P05106 ITB3_HUMAN Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA. 511 Cysteine-rich tandem repeats. activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding p.D510D(1) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) CCAGCAGGACGAATGCAGCCC 0.627000 79 14 0 0 0.002450 0 0 CYLC2 1539 broad.mit.edu 37 9 105767023 105767023 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr9:105767023G>A uc004bbs.2 + 3 297 c.227G>A c.(226-228)tGg>tAg p.W76* NM_001340 NP_001331 Q14093 CYLC2_HUMAN Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA. 76 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) CAACCATTATGGATGTACCGT 0.388000 20 15 0 0 0.004990 0 0 F13B 2165 broad.mit.edu 37 1 197026195 197026195 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:197026195C>T uc001gtt.1 - 6 1163 c.1119G>A c.(1117-1119)tcG>tcA p.S373S NM_001994 NP_001985 P05160 F13B_HUMAN Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA. 373 Sushi 6. blood coagulation extracellular region p.S373L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TTATCTCATTCGATCCATGGA 0.373000 43 20 0 0 0.001523 0 0 BLNK 29760 broad.mit.edu 37 10 97990570 97990570 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:97990570C>T uc001kls.4 - 3 362 c.184G>A c.(184-186)Gag>Aag p.E62K BLNK_uc001kme.4_Intron|BLNK_uc001klt.4_Intron|BLNK_uc009xvc.3_Intron|BLNK_uc001klu.4_5'UTR|BLNK_uc001klv.4_Missense_Mutation_p.E62K|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Missense_Mutation_p.E62K|BLNK_uc001kly.4_Missense_Mutation_p.E62K|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Missense_Mutation_p.E62K|BLNK_uc001kmb.4_5'UTR|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_5'UTR|BLNK_uc009xvd.3_Non-coding_Transcript NM_013314 NP_037446 Q8WV28 BLNK_HUMAN Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA. 62 E -> Q (in Ref. 3; AAH18906). B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) GACCACTGCTCCTCTTCGTCA 0.542000 23 5 0 0 0.001984 0 0 XIRP1 165904 broad.mit.edu 37 3 39226199 39226199 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:39226199C>T uc003cjk.2 - 1 4967 c.4738G>A c.(4738-4740)Gac>Aac p.D1580N XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.D263N|XIRP1_uc021wvz.1_Missense_Mutation_p.D1580N NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 1580 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GCACTGTGGTCTTTTGGAGGT 0.587000 167 64 0 0 0.003610 0 0 LGALS9 3965 broad.mit.edu 37 17 25974374 25974374 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:25974374C>T uc002gzp.3 + 9 955 c.837C>T c.(835-837)cgC>cgT p.R279R LGALS9_uc002gzq.3_Silent_p.R247R|LGALS9_uc002gzr.3_Silent_p.R190R|LGALS9_uc010waa.2_Intron NM_009587 NP_033665 O00182 LEG9_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA. 279 Galectin 2. positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region galactose binding|signal transducer activity endometrium(3)|large_intestine(2)|lung(12)|skin(1) 18 Lung NSC(42;0.0103) BRCA - Breast invasive adenocarcinoma(3;0.0141) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) CTGTGGTCCGCAACACCCAGA 0.592000 61 14 0 0 0.002450 0 0 OR5H14 403273 broad.mit.edu 37 3 97868569 97868569 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:97868569C>T uc003dsg.1 + 0 340 c.340C>T c.(340-342)Ctc>Ttc p.L114F NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA. 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L114F(2) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 GGAATGTTTTCTCTTGGCAAC 0.398000 167 38 0 0 0.005524 0 0 USP16 10600 broad.mit.edu 37 21 30414797 30414797 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr21:30414797C>T uc002ymy.3 + 11 1329 c.1127C>T c.(1126-1128)tCc>tTc p.S376F USP16_uc002ymx.3_Missense_Mutation_p.S375F|USP16_uc002ymw.3_Missense_Mutation_p.S376F|USP16_uc011acm.2_Missense_Mutation_p.S361F|USP16_uc011acn.2_Intron|USP16_uc011aco.2_Missense_Mutation_p.S66F NM_006447 NP_006438 Q9Y5T5 UBP16_HUMAN Homo sapiens ubiquitin specific peptidase 16 (USP16), transcript variant 1, mRNA. 376 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2) 34 GTTAAGGTCTCCTTGGTTCAT 0.368000 60 15 0 0 0.004007 0 0 CD248 57124 broad.mit.edu 37 11 66083855 66083855 + Missense_Mutation SNP T C C TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:66083855T>C uc001ohm.1 - 0 661 c.644A>G c.(643-645)aAg>aGg p.K215R NM_020404 NP_065137 Q9HCU0 CD248_HUMAN Homo sapiens CD248 molecule, endosialin (CD248), mRNA. 215 Sushi. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) CTCAGGCTGCTTCACGCAGAG 0.667000 37 9 0 0 0.006214 0 0 FAM65B 9750 broad.mit.edu 37 6 24848259 24848259 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:24848259G>A uc003neo.1 - 11 1247 c.1071C>T c.(1069-1071)tcC>tcT p.S357S FAM65B_uc011djs.1_Silent_p.S386S|FAM65B_uc011dju.2_Silent_p.S391S|FAM65B_uc003nep.3_Silent_p.S357S|FAM65B_uc011djt.2_Silent_p.S357S NM_014722 NP_055537 Q9Y4F9 FA65B_HUMAN Homo sapiens family with sequence similarity 65, member B (FAM65B), transcript variant 1, mRNA. 357 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 25 TTACAAAGAAGGAGTGGTCTT 0.522000 56 20 0 0 0.001882 0 0 KCNA5 3741 broad.mit.edu 37 12 5155058 5155058 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:5155058C>T uc001qni.3 + 0 1974 c.1745C>T c.(1744-1746)cCc>cTc p.P582L NM_002234 NP_002225 P22460 KCNA5_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA. 582 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GGCAGCTGCCCCCTAGAGAAG 0.602000 41 19 0 0 0.006122 0 0 ZAN 7455 broad.mit.edu 37 7 100333342 100333342 + Splice_Site SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:100333342G>A uc003uwj.3 + 3 219 c.54_splice c.e3-1 p.R18_splice ZAN_uc003uwk.3_Splice_Site_p.R18_splice|ZAN_uc003uwl.3_Splice_Site|ZAN_uc010lhh.3_Splice_Site|ZAN_uc010lhi.3_Splice_Site NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 18 binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CGACCCCCAAGGAAAGAGAAG 0.468000 14 8 0 0 0.004482 0 0 DNAH11 8701 broad.mit.edu 37 7 21723441 21723441 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:21723441C>T uc003svc.3 + 32 5552 c.5521C>T c.(5521-5523)Cgt>Tgt p.R1841C NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 1841 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R1841H(2) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GTCTCAACTTCGTCACCGATG 0.438000 Kartagener syndrome 231 92 0 0 0.003610 0 0 ACTR8 93973 broad.mit.edu 37 3 53907082 53907082 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:53907082G>A uc003dhd.3 - 8 1239 c.1138C>T c.(1138-1140)Cga>Tga p.R380* ACTR8_uc003dhb.3_Nonsense_Mutation_p.R85*|ACTR8_uc003dhc.3_Nonsense_Mutation_p.R269* NM_022899 NP_075050 Q9H981 ARP8_HUMAN Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA. 380 DNA recombination|DNA repair|cell division|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding p.R380*(2)|p.R85*(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) TCTCCTAATCGAAACTGGTAA 0.433000 22 10 0 0 0.008291 0 0 GRN 2896 broad.mit.edu 37 17 42428479 42428479 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:42428479C>T uc002igp.1 + 7 1002 c.783C>T c.(781-783)ctC>ctT p.L261L NM_002087 NP_002078 P28799 GRN_HUMAN Homo sapiens granulin (GRN), mRNA. 261 signal transduction extracellular space cytokine activity|growth factor activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) GTAAGTGCCTCTCCAAGGAGA 0.617000 OREG0024459 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 71 17 0 0 0.004990 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55351130 55351130 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:55351130G>A uc002qhm.1 + 4 662 c.616G>A c.(616-618)Gat>Aat p.D206N KIR3DL2_uc010yfj.2_Silent_p.V199V|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Silent_p.V206V|KIR3DL2_uc002qhn.1_Intron NM_012314 NP_036446 P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA. 309 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) AAACTCGAGTGATCCACTGCT 0.557000 78 82 0 0 0.003610 0 0 EPB49 2039 broad.mit.edu 37 8 21938682 21938682 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:21938682G>A uc022asw.1 + 13 1120 c.1082G>A c.(1081-1083)gGg>gAg p.G361E EPB49_uc022asq.1_3'UTR|EPB49_uc022asr.1_3'UTR|EPB49_uc022ass.1_3'UTR|EPB49_uc022ast.1_3'UTR|EPB49_uc022asu.1_3'UTR|EPB49_uc022asv.1_3'UTR|EPB49_uc022asx.1_Missense_Mutation_p.G339E|EPB49_uc022asy.1_Missense_Mutation_p.G314E NM_001978 NP_001969 Q08495 DEMA_HUMAN Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA. 361 HP. actin filament bundle assembly|actin filament capping actin cytoskeleton|nucleus actin binding central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 10 Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631) CTGCCACCGGGGGTGGATCGG 0.612000 76 18 0 0 0.007413 0 0 LRRC16B 90668 broad.mit.edu 37 14 24526176 24526176 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:24526176C>T uc001wlj.2 + 12 1162 c.1005C>T c.(1003-1005)tcC>tcT p.S335S NM_138360 NP_612369 Q8ND23 LR16B_HUMAN Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA. 335 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) TTGCCAGCTCCCTTCGATACC 0.627000 45 11 0 0 0.001368 0 0 KRT25 147183 broad.mit.edu 37 17 38907543 38907544 + Missense_Mutation DNP GT CA CA TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:38907543_38907544GT>CA uc002hve.3 - 3 765_766 c.704_705AC>TG c.(703-705)aac>aTG p.N235M NM_181534 NP_853512 Q7Z3Z0 K1C25_HUMAN Homo sapiens keratin 25 (KRT25), mRNA. 235 Linker 12.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) CCACGTTCACGTTGCCTCCAGC 0.545000 36 10 0 0 0.004672 0 0 ANK3 288 broad.mit.edu 37 10 61831288 61831288 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:61831288G>A uc001jky.3 - 36 9689 c.9351C>T c.(9349-9351)atC>atT p.I3117I ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 3117 I -> V (in dbSNP:rs28932171). establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CCTGACTTATGATTTTTTTTA 0.403000 119 41 0 0 0.008740 0 0 AK302694 0 broad.mit.edu 37 10 30998303 30998303 + Silent SNP C T T rs113012238 by1000genomes TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:30998303C>T uc010qdx.1 + 7 1391 c.849C>T c.(847-849)ttC>ttT p.F283F SubName: Full=cDNA FLJ59642, highly similar to Supervillin; CCACGGAGTTCGTGTACCCTG 0.587000 46 20 0 0 0.002299 0 0 SLX4 84464 broad.mit.edu 37 16 3639611 3639611 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:3639611G>A uc002cvp.2 - 11 4655 c.4028C>T c.(4027-4029)cCt>cTt p.P1343L NM_032444 NP_115820 Q8IY92 SLX4_HUMAN Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA. 1343 Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 GGGACGGGAAGGGCTTCTGTG 0.662000 Direct reversal of damage 125 34 0 0 0.003755 0 0 RPIA 22934 broad.mit.edu 37 2 89049589 89049589 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:89049589C>T uc002ste.3 + 8 971 c.930C>T c.(928-930)ttC>ttT p.F310F NM_144563 NP_653164 P49247 RPIA_HUMAN Homo sapiens ribose 5-phosphate isomerase A (RPIA), mRNA. 310 pentose-phosphate shunt, non-oxidative branch cytosol ribose-5-phosphate isomerase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287) AGAAGCCTTTCTGTTGACCCT 0.532000 49 17 0 0 0.008871 0 0 OR8H3 390152 broad.mit.edu 37 11 55890498 55890498 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:55890498C>T uc001nii.1 + 0 650 c.650C>T c.(649-651)tCc>tTc p.S217F NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA. 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A216S(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) ATATCTGCATCCTATGTGTCC 0.433000 98 12 0 0 0.001368 0 0 GYS2 2998 broad.mit.edu 37 12 21733319 21733319 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:21733319G>A uc001rfb.3 - 1 515 c.260C>T c.(259-261)gCt>gTt p.A87V NM_021957 NP_068776 P54840 GYS2_HUMAN Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA. 87 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TCTTCTGACAGCATCATTTAC 0.413000 176 60 0 0 0.003610 0 0 OPHN1 4983 broad.mit.edu 37 X 67283898 67283898 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:67283898G>A uc004dww.4 - 20 2250 c.1956C>T c.(1954-1956)tcC>tcT p.S652S OPHN1_uc011mpg.2_Intron NM_002547 NP_002538 O60890 OPHN1_HUMAN Homo sapiens oligophrenin 1 (OPHN1), mRNA. 652 Pro-rich. axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2) 31 GCCTGCTTGGGGACTTCCTCC 0.562000 29 40 0 0 0.006999 0 0 KRTAP10-11 386678 broad.mit.edu 37 21 46066510 46066510 + Silent SNP G T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr21:46066510G>T uc002zfr.4 + 0 180 c.135G>T c.(133-135)ctG>ctT p.L45L TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198692 NP_941965 P60411 KR109_HUMAN Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA. 45 25 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 12 CCCTGAGCCTGGTCTGCACCC 0.701000 45 15 1.3612e-06 1.90812e-06 0.003163 1 0 CNTN4 152330 broad.mit.edu 37 3 3078995 3078995 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:3078995G>A uc003bpc.3 + 17 2414 c.2075G>A c.(2074-2076)cGg>cAg p.R692Q CNTN4_uc003bpb.1_Missense_Mutation_p.R363Q|CNTN4_uc021wsg.1_Missense_Mutation_p.R692Q|CNTN4_uc003bpd.1_Missense_Mutation_p.R692Q|CNTN4_uc003bpe.3_Missense_Mutation_p.R364Q|CNTN4_uc003bpf.3_Missense_Mutation_p.R363Q|CNTN4_uc003bpg.3_5'Flank NM_175607 NP_783302 Q8IWV2 CNTN4_HUMAN Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA. 692 Fibronectin type-III 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TCAGAGAAACGGAGAACAGAA 0.522000 187 45 0 0 0.003610 0 0 FATE1 89885 broad.mit.edu 37 X 150889904 150889904 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:150889904C>T uc004fex.3 + 2 356 c.272C>T c.(271-273)tCa>tTa p.S91L NM_033085 NP_149076 Q969F0 FATE1_HUMAN Homo sapiens fetal and adult testis expressed 1 (FATE1), mRNA. 91 endoplasmic reticulum|integral to membrane p.S91A(1) NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1) 15 Acute lymphoblastic leukemia(192;6.56e-05) CTGAGAGAATCAGGCCATGGG 0.542000 28 22 0 0 0.004656 0 0 PVRL1 5818 broad.mit.edu 37 11 119545951 119545951 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:119545951G>A uc001pwv.3 - 4 1093 c.921C>T c.(919-921)aaC>aaT p.N307N PVRL1_uc001pwu.1_Silent_p.N307N|PVRL1_uc001pww.3_Silent_p.N307N NM_002855 NP_002846 Q15223 PVRL1_HUMAN Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA. 307 Ig-like C2-type 2. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CCAGGCTGTAGTTGATGGGTC 0.572000 73 24 0 0 0.002780 0 0 ITK 3702 broad.mit.edu 37 5 156675899 156675899 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:156675899C>T uc003lwo.1 + 15 1755 c.1673C>T c.(1672-1674)cCg>cTg p.P558L NM_005546 NP_005537 Q08881 ITK_HUMAN Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA. 558 Protein kinase. T cell receptor signaling pathway|cellular defense response|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGCAAAATCCCGTATGAAAAC 0.493000 T SYK peripheral T-cell lymphoma 248 121 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9048071 9048071 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:9048071G>A uc002mkp.3 - 4 33764 c.33560C>T c.(33559-33561)tCt>tTt p.S11187F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11189 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTTTGCCTCAGAATGGGTGAC 0.458000 22 20 0 0 0.001882 0 0 ATG13 9776 broad.mit.edu 37 11 46689398 46689398 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:46689398C>T uc001nda.3 + 13 1840 c.1212C>T c.(1210-1212)gtC>gtT p.V404V ATG13_uc009yld.3_Silent_p.V371V|ATG13_uc001ndb.3_Silent_p.V371V|ATG13_uc001ncz.3_Silent_p.V334V|ATG13_uc001ndc.3_Silent_p.V334V|ATG13_uc010rgv.2_Silent_p.V255V NM_001205119 NP_001192048 O75143 ATG13_HUMAN Homo sapiens ATG13 autophagy related 13 homolog (S. cerevisiae) (ATG13), transcript variant 3, mRNA. 371 autophagic vacuole assembly ULK1-ATG13-FIP200 complex|cytosol|pre-autophagosomal structure protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 15 CCATCTTTGTCCGAAAAGTGG 0.493000 46 16 0 0 0.004990 0 0 KCNH2 3757 broad.mit.edu 37 7 150648537 150648537 + Splice_Site SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:150648537G>A uc003wic.3 - 7 2346 c.1945_splice c.e7+1 p.S649_splice KCNH2_uc003wib.3_Splice_Site_p.S309_splice|KCNH2_uc011kux.2_Splice_Site_p.S553_splice|KCNH2_uc003wid.3_Splice_Site_p.S309_splice|KCNH2_uc003wie.3_Splice_Site_p.S649_splice NM_000238 NP_000229 Q12809 KCNH2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA. 649 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CACACTCACAGCCAATGAGCA 0.612000 106 42 0 0 0.003610 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457751 110457751 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:110457751C>T uc003yne.3 + 37 5757 c.5653C>T c.(5653-5655)Ccc>Tcc p.P1885S NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 1885 IPT/TIG 11. immune response cytosol|extracellular space|integral to membrane receptor activity p.R1885H(1)|p.C1884Y(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CTGCCGCACTCCCGCTGGGAC 0.433000 HNSCC(38;0.096) 34 6 0 0 0.001168 0 0 CHL1 10752 broad.mit.edu 37 3 424225 424225 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:424225G>A uc003bot.3 + 17 2689 c.2047G>A c.(2047-2049)Gga>Aga p.G683R CHL1_uc003bou.3_Missense_Mutation_p.G667R|CHL1_uc003bow.2_Missense_Mutation_p.G667R|CHL1_uc011asi.2_Missense_Mutation_p.G683R|BC065754_uc003box.1_Intron NM_006614 NP_006605 O00533 CHL1_HUMAN Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA. 667 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CAGAGTCCAAGGAAAGAAAAC 0.433000 86 33 0 0 0.002445 0 0 RBP3 5949 broad.mit.edu 37 10 48390452 48390452 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:48390452C>T uc001jez.3 - 0 540 c.426G>A c.(424-426)gaG>gaA p.E142E NM_002900 NP_002891 P10745 RET3_HUMAN Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA. 142 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) TGCTCAGCACCTCCTGGCCCG 0.642000 80 33 0 0 0.003271 0 0 LRIF1 55791 broad.mit.edu 37 1 111490704 111490704 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:111490704G>A uc001eaa.3 - 3 2443 c.2187C>T c.(2185-2187)ttC>ttT p.F729F LRIF1_uc001dzz.3_Silent_p.F193F|LRIF1_uc001eab.3_Silent_p.F193F NM_018372 NP_060842 Q5T3J3 LRIF1_HUMAN Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA. 729 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding p.F729F(2) endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 GTGTCACTGGGAAAATATCTT 0.368000 129 57 0 0 0.003610 0 0 TNFAIP1 7126 broad.mit.edu 37 17 26671537 26671537 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:26671537C>T uc002hax.2 + 6 881 c.862C>T c.(862-864)Ctg>Ttg p.L288L TNFAIP1_uc002hay.3_Silent_p.L288L|TNFAIP1_uc010waf.2_Silent_p.L184L NM_021137 NP_066960 Q13829 BACD2_HUMAN Homo sapiens tumor necrosis factor, alpha-induced protein 1 (endothelial) (TNFAIP1), mRNA. 288 DNA replication|apoptosis|cell migration|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 12 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) GACCTTTGAACTGCGGGACCG 0.617000 51 11 0 0 0.001368 0 0 LAG3 3902 broad.mit.edu 37 12 6886536 6886536 + Silent SNP A G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:6886536A>G uc001qqt.4 + 5 1513 c.1164A>G c.(1162-1164)ccA>ccG p.P388P LAG3_uc001qqu.3_Silent_p.P218P NM_002286 NP_002277 P18627 LAG3_HUMAN Homo sapiens lymphocyte-activation gene 3 (LAG3), mRNA. 388 Ig-like C2-type 3. integral to membrane MHC class II protein binding|antigen binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 TGGACACCCCATCCCAGAGGA 0.577000 102 47 0 0 0.003610 0 0 FAM40A 85369 broad.mit.edu 37 1 110593614 110593614 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:110593614C>T uc001dza.1 + 18 2012 c.1993C>T c.(1993-1995)Ctc>Ttc p.L665F FAM40A_uc001dyz.1_Missense_Mutation_p.L570F|FAM40A_uc009wfp.1_Missense_Mutation_p.L489F NM_033088 NP_149079 Q5VSL9 FA40A_HUMAN Homo sapiens family with sequence similarity 40, member A (FAM40A), mRNA. 665 nucleus protein binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1) 23 all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137) CTGGAGGAACCTCTTTTCTTG 0.473000 49 24 0 0 0.003954 0 0 NSD1 64324 broad.mit.edu 37 5 176638794 176638795 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:176638794_176638795GG>AA uc003mfr.4 + 4 3532_3533 c.3394_3395GG>AA c.(3394-3396)gga>AAa p.G1132K NSD1_uc003mft.4_Missense_Mutation_p.G863K|NSD1_uc003mfs.1_Missense_Mutation_p.G1029K|NSD1_uc011dfx.2_Missense_Mutation_p.G780K NM_022455 NP_071900 Q96L73 NSD1_HUMAN Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA. 1132 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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)|Epithelial(233;0.198) Kidney(146;0.235) TTTTGAAAACGGAAAAGGCCCA 0.406000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 35 5 0 0 0.004672 0 0 HMGB4 127540 broad.mit.edu 37 1 34329957 34329957 + Missense_Mutation SNP T G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:34329957T>G uc021oky.1 + 0 165 c.165T>G c.(163-165)caT>caG p.H55Q CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.H55Q|HMGB4_uc001bxq.3_5'UTR NM_145205 NP_660206 B2R4X7 B2R4X7_HUMAN Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA. 55 nucleus DNA binding NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) TCTCAAAGCATGAAAAGGCCA 0.423000 87 50 0 0 0.003610 0 0 OSR1 130497 broad.mit.edu 37 2 19553205 19553205 + Missense_Mutation SNP T C C TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:19553205T>C uc002rdc.3 - 1 665 c.362A>G c.(361-363)aAc>aGc p.N121S NM_145260 NP_660303 Q8TAX0 OSR1_HUMAN Homo sapiens odd-skipped related 1 (Drosophila) (OSR1), mRNA. 121 chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development nucleolus nucleic acid binding|zinc ion binding breast(1)|large_intestine(2)|lung(4)|ovary(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) Acute lymphoblastic leukemia(84;0.221) CAAGGCCAGGTTGGCAAAATC 0.642000 67 31 0 0 0.008361 0 0 DOPEY2 9980 broad.mit.edu 37 21 37623467 37623467 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr21:37623467G>A uc002yvg.3 + 21 5085 c.5006G>A c.(5005-5007)aGa>aAa p.R1669K DOPEY2_uc011aeb.2_Missense_Mutation_p.R1618K|DOPEY2_uc002yvh.3_Missense_Mutation_p.R520K NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN Homo sapiens dopey family member 2 (DOPEY2), mRNA. 1669 Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TAGACCATAAGACAAAAAATT 0.453000 98 17 0 0 0.006122 0 0 CYP2C19 1557 broad.mit.edu 37 10 96454814 96454814 + Silent SNP C T T rs11188057 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:96454814C>T uc001kjv.4 + 3 948 c.622C>T c.(622-624)Ctg>Ttg p.L208L CYP2C19_uc001kjw.4_Silent_p.L208L|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR NM_000772 NP_000763 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA. 208 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) CCTCAGGATTCTGAGCTCTCC 0.323000 27 13 0 0 0.001368 0 0 LARS2 23395 broad.mit.edu 37 3 45589003 45589004 + Missense_Mutation DNP AC TT TT TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:45589003_45589004AC>TT uc003cop.1 + 21 2878_2879 c.2693_2694AC>TT c.(2692-2694)aac>aTT p.N898I LARS2_uc010hit.1_Missense_Mutation_p.N855I NM_015340 NP_056155 Q15031 SYLM_HUMAN Homo sapiens leucyl-tRNA synthetase 2, mitochondrial (LARS2), nuclear gene encoding mitochondrial protein, mRNA. 898 leucyl-tRNA aminoacylation mitochondrial matrix ATP binding|leucine-tRNA ligase activity endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372) L-Leucine(DB00149) GCCCTCATCAACTTCCTGGTGC 0.559000 108 31 0 0 0.004672 0 0 STK10 6793 broad.mit.edu 37 5 171533651 171533651 + Missense_Mutation SNP G T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:171533651G>T uc003mbo.1 - 5 1061 c.761C>A c.(760-762)cCt>cAt p.P254H NM_005990 NP_005981 O94804 STK10_HUMAN Homo sapiens serine/threonine kinase 10 (STK10), mRNA. 254 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CAGCGTGGGAGGGTCCGACTT 0.657000 OREG0017039 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 9 6.40141e-05 8.94346e-05 0.000978 1 0 abParts 0 broad.mit.edu 37 14 106733175 106733175 + RNA SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:106733175G>A uc021ser.1 - 876 c.21371C>T Parts of antibodies, mostly variable regions. CGTGTCCTCAGATCTCAGGCT 0.532000 323 93 0 0 0.003610 0 0 COL12A1 1303 broad.mit.edu 37 6 75844525 75844525 + Missense_Mutation SNP T C C TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:75844525T>C uc021zbv.1 - 30 5476 c.5441A>G c.(5440-5442)aAg>aGg p.K1814R COL12A1_uc021zbw.1_Missense_Mutation_p.K650R|COL12A1_uc003phs.3_Missense_Mutation_p.K1814R|COL12A1_uc003pht.3_Missense_Mutation_p.K650R NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 1814 Fibronectin type-III 13. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 AGTGTCTGGCTTCAGTTTCTG 0.493000 61 67 0 0 0.003610 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39177470 39177470 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr9:39177470G>A uc004abi.3 - 5 1011 c.772C>T c.(772-774)Cct>Tct p.P258S CNTNAP3_uc004abj.3_Missense_Mutation_p.P258S|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.P258S|CNTNAP3_uc011lqs.1_Missense_Mutation_p.P258S NM_033655 NP_387504 Q9BZ76 CNTP3_HUMAN Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA. 258 Laminin G-like 1. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) AGGGTCACAGGAGCAATAGTG 0.498000 47 31 0 0 0.002836 0 0 BTN2A1 11120 broad.mit.edu 37 6 26460007 26460007 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:26460007C>T uc003nib.2 + 2 629 c.381C>T c.(379-381)ttC>ttT p.F127F BTN2A1_uc021yni.1_Silent_p.F127F|BTN2A1_uc003nic.2_Silent_p.F127F|BTN2A1_uc011dko.2_Silent_p.F66F NM_007049 NP_001184162 Q7KYR7 BT2A1_HUMAN Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA. 127 Ig-like V-type. lipid metabolic process integral to plasma membrane breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3) 27 GCTGTTACTTCCAAGAAGGCA 0.537000 33 25 0 0 0.003954 0 0 OR7G1 125962 broad.mit.edu 37 19 9226256 9226256 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:9226256G>A uc021uoi.1 - 0 184 c.184C>T c.(184-186)Ctt>Ttt p.L62F OR7G1_uc002mks.1_Missense_Mutation_p.L62F NM_001005192 NP_001005192 Q8NGA0 OR7G1_HUMAN Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA. 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 TTAAAGAGAAGGAAGTACATG 0.488000 64 44 0 0 0.003214 0 0 CDYL2 124359 broad.mit.edu 37 16 80638393 80638393 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:80638393C>T uc002ffs.3 - 6 1518 c.1413G>A c.(1411-1413)ctG>ctA p.L471L NM_152342 NP_689555 Q8N8U2 CDYL2_HUMAN Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA. 471 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 TCACGTCTTCCAGCACTGATT 0.527000 118 27 0 0 0.007291 0 0 TTN 7273 broad.mit.edu 37 2 179410659 179410659 + Silent SNP G T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:179410659G>T uc021vsy.1 - 291 87825 c.87600C>A c.(87598-87600)gtC>gtA p.V29200V MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V22895V|TTN_uc021vta.1_Silent_p.V22828V|TTN_uc021vtb.1_Silent_p.V22703V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 30127 Fibronectin type-III 113. 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) GCCTGGTAACGACATAGGATA 0.488000 64 26 1.85244e-09 2.6113e-09 0.003330 1 0 MATN3 4148 broad.mit.edu 37 2 20205776 20205776 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:20205776G>A uc002rdl.3 - 1 582 c.519C>T c.(517-519)gcC>gcT p.A173A MATN3_uc010exu.1_Silent_p.A173A NM_002381 NP_002372 O15232 MATN3_HUMAN Homo sapiens matrilin 3 (MATN3), mRNA. 173 VWFA. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCACTGTGAAGGCTTCGTCCA 0.567000 46 17 0 0 0.001882 0 0 LILRB1 10859 broad.mit.edu 37 19 55144687 55144687 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:55144687G>A uc002qgj.3 + 7 1519 c.1179G>A c.(1177-1179)ggG>ggA p.G393G LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.G393G|LILRB1_uc002qgk.3_Silent_p.G393G|LILRB1_uc002qgm.3_Silent_p.G393G|LILRB1_uc010erq.3_Silent_p.G393G|LILRB1_uc010err.3_Non-coding_Transcript NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA. 393 Ig-like C2-type 4. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity p.A392A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CCCATGCGGGGACCTACAGGT 0.592000 HNSCC(37;0.09) 57 15 0 0 0.002096 0 0 EGR2 1959 broad.mit.edu 37 10 64573365 64573365 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:64573365C>T uc010qio.2 - 2 1092 c.1072G>A c.(1072-1074)Gaa>Aaa p.E358K EGR2_uc010qim.2_Missense_Mutation_p.E345K|EGR2_uc010qin.2_Missense_Mutation_p.E295K|EGR2_uc001jmi.3_Missense_Mutation_p.E345K|EGR2_uc009xph.3_Missense_Mutation_p.E345K NM_001136179 NP_001129651 P11161 EGR2_HUMAN Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA. 345 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus RNA polymerase II activating transcription factor binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding p.E345Q(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 36 Prostate(12;0.0297)|all_hematologic(501;0.228) TCGCAGCCTTCTGCTGGGCAC 0.642000 76 21 0 0 0.002299 0 0 GPR161 23432 broad.mit.edu 37 1 168065816 168065816 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:168065816C>T uc010pln.2 - 3 1623 c.1089G>A c.(1087-1089)cgG>cgA p.R363R GPR161_uc001gfb.3_Silent_p.R211R|GPR161_uc001gfc.3_Silent_p.R343R|GPR161_uc010pll.2_Silent_p.R253R|GPR161_uc010plm.2_Silent_p.R229R|GPR161_uc009wvo.3_Silent_p.R360R|GPR161_uc001gfd.3_Silent_p.R343R|GPR161_uc001gfe.1_Silent_p.R343R NM_153832 NP_722561 Q8N6U8 GP161_HUMAN Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA. 343 multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 all_hematologic(923;0.215) CCCGATAATACCGGTCCCCAA 0.522000 51 26 0 0 0.004656 0 0 FAAH2 158584 broad.mit.edu 37 X 57473467 57473467 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:57473467C>T uc004dvc.3 + 8 1372 c.1223C>T c.(1222-1224)tCc>tTc p.S408F NM_174912 NP_777572 Q6GMR7 FAAH2_HUMAN Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA. 408 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity p.S408S(1)|p.S408T(1) endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 ACCATCCCTTCCATTGGTATG 0.398000 HNSCC(52;0.14) 10 11 0 0 0.008291 0 0 CAMK1D 57118 broad.mit.edu 37 10 12802951 12802951 + Missense_Mutation SNP T A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:12802951T>A uc001ilo.3 + 3 539 c.304T>A c.(304-306)Tcc>Acc p.S102T CAMK1D_uc001iln.3_Missense_Mutation_p.S102T NM_153498 NP_705718 Q8IU85 KCC1D_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA. 102 Protein kinase. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) TGCCAGGGTGTCCGGTGGAGA 0.433000 194 109 0 0 0.003610 0 0 TP53 7157 broad.mit.edu 37 17 7577559 7577559 + Missense_Mutation SNP G A A rs28934573 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:7577559G>A uc002gim.2 - 6 916 c.722C>T c.(721-723)tCc>tTc p.S241F TP53_uc002gig.1_Missense_Mutation_p.S241F|TP53_uc002gih.3_Missense_Mutation_p.S241F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.S109F|TP53_uc010cnf.1_Missense_Mutation_p.S109F|TP53_uc002gii.1_Missense_Mutation_p.S109F|TP53_uc010cni.1_Missense_Mutation_p.S241F|TP53_uc010cnh.1_Missense_Mutation_p.S241F|TP53_uc002gij.2_Missense_Mutation_p.S241F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.S148F|TP53_uc002gio.2_Missense_Mutation_p.S109F|DL476309_uc021tpg.1_Splice_Site|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 241 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation). 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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S241F(163)|p.S241C(50)|p.S241Y(16)|p.S240G(14)|p.S241del(10)|p.S241A(9)|p.S240R(9)|p.S241fs*6(9)|p.0?(8)|p.N239_C242delNSSC(6)|p.S240I(6)|p.S241T(6)|p.C242fs*5(6)|p.?(5)|p.S148F(4)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.S241fs*22(3)|p.N239_S240insX(2)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.H233_C242del10(2)|p.N239_C242>S(2)|p.N239_S240delNS(2)|p.S241_G245delSCMGG(2)|p.N239_C242del(2)|p.N239_S240insN(1)|p.S148C(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.S240P(1)|p.S241_C242insX(1)|p.S240fs*23(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.S240fs*26(1)|p.S241fs*23(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) GCCCATGCAGGAACTGTTACA 0.572000 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) 49 42 0 0 0.003610 0 0 WISP2 8839 broad.mit.edu 37 20 43353579 43353579 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr20:43353579G>A uc002xmp.3 + 2 625 c.478G>A c.(478-480)Gag>Aag p.E160K LOC79015_uc002xml.1_Intron|WISP2_uc002xmq.3_Intron NM_003881 NP_003872 O76076 WISP2_HUMAN Homo sapiens WNT1 inducible signaling pathway protein 2 (WISP2), mRNA. 160 VWFC. cell adhesion|cell-cell signaling|signal transduction extracellular region|soluble fraction insulin-like growth factor binding skin(1) 1 Myeloproliferative disorder(115;0.0122) GTGCTGCCCTGAGTGGGTGTG 0.716000 21 8 0 0 0.000978 0 0 PHF2 5253 broad.mit.edu 37 9 96428317 96428317 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr9:96428317C>T uc004aub.3 + 15 2309 c.2162C>T c.(2161-2163)cCa>cTa p.P721L PHF2_uc011lug.1_Missense_Mutation_p.P604L|PHF2_uc004auc.3_Missense_Mutation_p.P140L NM_005392 NP_005383 O75151 PHF2_HUMAN Homo sapiens PHD finger protein 2 (PHF2), mRNA. 721 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) GTCACGAAGCCAAAGCTGGAC 0.622000 29 19 0 0 0.001882 0 0 UNC79 57578 broad.mit.edu 37 14 94038393 94038393 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:94038393C>T uc001ybv.1 + 11 1461 c.1378C>T c.(1378-1380)Cca>Tca p.P460S UNC79_uc001ybs.1_Missense_Mutation_p.P460S NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 637 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 AACAGAAGTCCCAGATAATCA 0.398000 26 14 0 0 0.004990 0 0 B3GNT7 93010 broad.mit.edu 37 2 232262827 232262827 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:232262827G>A uc002vrs.3 + 1 577 c.397G>A c.(397-399)Gat>Aat p.D133N NM_145236 NP_660279 Q8NFL0 B3GN7_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (B3GNT7), mRNA. 133 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity p.D133N(2) endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1) 17 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) GTGCAGGGGCGATGTCTACCT 0.662000 31 13 0 0 0.001368 0 0 ADTRP 84830 broad.mit.edu 37 6 11768493 11768493 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:11768493G>A uc011dip.2 - 2 619 c.331C>T c.(331-333)Cct>Tct p.P111S ADTRP_uc003nab.3_Missense_Mutation_p.P93S NM_001143948 NP_001137420 Q96IZ2 CF105_HUMAN Homo sapiens chromosome 6 open reading frame 105 (C6orf105), transcript variant 1, mRNA. 93 integral to membrane GTGGATACAGGAAAAGCCAGA 0.468000 50 42 0 0 0.002852 0 0 ITGAD 3681 broad.mit.edu 37 16 31437362 31437362 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:31437362G>A uc010cap.1 + 29 3451 c.3402G>A c.(3400-3402)aaG>aaA p.K1134K ITGAD_uc002ebv.1_Silent_p.K1133K NM_005353 NP_005344 Q13349 ITAD_HUMAN Homo sapiens integrin, alpha D (ITGAD), mRNA. 1133 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 GCCACTACAAGGAAATGCTGG 0.498000 29 10 0 0 0.002450 0 0 MMP26 56547 broad.mit.edu 37 11 5013258 5013258 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:5013258G>A uc001lzv.3 + 4 678 c.660G>A c.(658-660)ggG>ggA p.G220G NM_021801 NP_068573 Q9NRE1 MMP26_HUMAN Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA. 220 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) AGCACTCTGGGAATCAGAGCT 0.418000 31 19 0 0 0.002299 0 0 RBM11 54033 broad.mit.edu 37 21 15592040 15592040 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr21:15592040C>T uc002yjo.4 + 1 295 c.253C>T c.(253-255)Cga>Tga p.R85* RBM11_uc002yjn.4_5'UTR|RBM11_uc002yjp.4_Intron NM_144770 NP_658983 P57052 RBM11_HUMAN Homo sapiens RNA binding motif protein 11 (RBM11), mRNA. 85 RRM. RNA binding|nucleotide binding endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) CGTGCAGTATCGATTTGGTAG 0.373000 23 9 0 0 0.008291 0 0 RET 5979 broad.mit.edu 37 10 43595906 43595906 + Splice_Site SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:43595906G>A uc001jal.3 + 2 264 c.74_splice c.e2-1 p.V25_splice RET_uc001jak.1_Splice_Site_p.V25_splice NM_020975 NP_066124 P07949 RET_HUMAN Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA. 25 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) ACTTCCCACAGTGGCATTGGG 0.488000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 43 23 0 0 0.005443 0 0 MARCO 8685 broad.mit.edu 37 2 119735507 119735508 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:119735507_119735508CC>TT uc002tln.1 + 7 894_895 c.762_763CC>TT c.(760-765)ctccca>ctTTca p.P255S MARCO_uc010yyf.1_Missense_Mutation_p.P177S NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 255 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 ACCTGGGTCTCCCAGGTGAGGG 0.604000 15 4 0 0 0.004672 0 0 CDC27 996 broad.mit.edu 37 17 45232057 45232057 + Missense_Mutation SNP G A A rs150116111 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:45232057G>A uc002ile.4 - 7 1065 c.938C>T c.(937-939)aCc>aTc p.T313I CDC27_uc002ild.4_Missense_Mutation_p.T313I|CDC27_uc002ilf.4_Missense_Mutation_p.T313I|CDC27_uc010wkp.2_Missense_Mutation_p.T252I|CDC27_uc010wkq.1_Non-coding_Transcript NM_001114091 NP_001107563 P30260 CDC27_HUMAN Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA. 313 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 AGGGGCTCCGGTGGATGGCAC 0.378000 17 9 0 0 0.008291 0 0 CD86 942 broad.mit.edu 37 3 121828111 121828111 + Splice_Site SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:121828111G>A uc003eet.3 + 5 832 c.704_splice c.e5-1 p.E235_splice CD86_uc011bjo.2_Splice_Site_p.E153_splice|CD86_uc011bjp.2_Splice_Site_p.E123_splice|CD86_uc003eeu.3_Splice_Site_p.E229_splice|CD86_uc021xcz.1_Intron NM_175862 NP_008820 P42081 CD86_HUMAN Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA. 235 T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) GTCATTTGTAGAGCTTGAGGA 0.443000 50 15 0 0 0.003163 0 0 CCNA1 8900 broad.mit.edu 37 13 37012209 37012209 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr13:37012209C>T uc001uvr.4 + 3 900 c.550C>T c.(550-552)Cct>Tct p.P184S CCNA1_uc010teo.2_Missense_Mutation_p.P140S|CCNA1_uc010abq.3_Missense_Mutation_p.P140S|CCNA1_uc010abp.3_Missense_Mutation_p.P140S|CCNA1_uc001uvs.4_Missense_Mutation_p.P183S|CCNA1_uc010abr.3_Intron NM_003914 NP_001104517 P78396 CCNA1_HUMAN Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA. 184 G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) TGCAGTTTCCCCTATGCTGGT 0.373000 144 45 0 0 0.003610 0 0 KCNH4 23415 broad.mit.edu 37 17 40323852 40323852 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:40323852G>A uc002hzb.2 - 6 1482 c.1149C>T c.(1147-1149)atC>atT p.I383I NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA. 383 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CCCGGCGCCCGATGACATACC 0.612000 61 31 0 0 0.002836 0 0 ADD2 119 broad.mit.edu 37 2 70923506 70923506 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:70923506G>A uc021vjc.1 - 4 610 c.345C>T c.(343-345)atC>atT p.I115I ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Silent_p.I115I|ADD2_uc002sgz.3_Silent_p.I115I|ADD2_uc010fdt.2_Silent_p.I115I|ADD2_uc002shc.2_Silent_p.I115I|ADD2_uc010fdu.2_Silent_p.I131I NM_001185054 NP_001608 P35612 ADDB_HUMAN Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA. 115 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding F-actin capping protein complex|cytoplasm|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 GGAGGTCATTGATAGGCGTCA 0.572000 29 14 0 0 0.004007 0 0 PAM 5066 broad.mit.edu 37 5 102310099 102310099 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:102310099C>T uc003knt.3 + 13 1815 c.1442C>T c.(1441-1443)cCc>cTc p.P481L PAM_uc003knw.3_Missense_Mutation_p.P481L|PAM_uc003kns.3_Intron|PAM_uc003knu.3_Missense_Mutation_p.P481L|PAM_uc011cuz.2_Missense_Mutation_p.P384L|PAM_uc003knv.3_Missense_Mutation_p.P481L|PAM_uc003knx.1_Intron|PAM_uc003kny.1_Non-coding_Transcript NM_000919 NP_000910 P19021 AMD_HUMAN Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA. 481 Peptidylglycine alpha-hydroxylating monooxygenase (By similarity). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) TTACAGCAGCCCCCACCTGGT 0.468000 69 19 0 0 0.002299 0 0 OR8D4 338662 broad.mit.edu 37 11 123777788 123777788 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:123777788C>T uc010saa.2 + 0 650 c.650C>T c.(649-651)tCa>tTa p.S217L NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA. 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) ATCATTATTTCATATGCTTTT 0.428000 84 32 0 0 0.002445 0 0 METTL16 79066 broad.mit.edu 37 17 2323535 2323535 + Missense_Mutation SNP C A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:2323535C>A uc002fut.3 - 9 1566 c.1418G>T c.(1417-1419)gGg>gTg p.G473V METTL16_uc010cka.3_Non-coding_Transcript|METTL16_uc002fuu.4_Non-coding_Transcript|METTL16_uc002fuv.3_Intron|METTL16_uc010vqx.1_Non-coding_Transcript|METTL16_uc010vqy.1_Missense_Mutation_p.G255V NM_024086 NP_076991 Q86W50 MET16_HUMAN Homo sapiens methyltransferase like 16 (METTL16), mRNA. 473 methyltransferase activity kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 19 AACCTCCACCCCTCCCTTTTC 0.612000 146 43 5.34276e-22 7.63424e-22 0.003610 1 0 SCN2A 6326 broad.mit.edu 37 2 166246326 166246326 + Missense_Mutation SNP A G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:166246326A>G uc002udc.3 + 26 6300 c.6010A>G c.(6010-6012)Aaa>Gaa p.K2004E SCN2A_uc002udd.3_Missense_Mutation_p.K2004E|SCN2A_uc002ude.3_Missense_Mutation_p.K2004E|SCN2A_uc021vry.1_Missense_Mutation_p.K504E NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 2004 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) CAGGGAAAGTAAAAAGTAAAA 0.378000 18 10 0 0 0.006214 0 0 SERPINA7 6906 broad.mit.edu 37 X 105279124 105279124 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:105279124C>T uc010npd.3 - 1 1110 c.875G>A c.(874-876)tGg>tAg p.W292* SERPINA7_uc004eme.2_Nonsense_Mutation_p.W292*|SERPINA7_uc010npe.2_Nonsense_Mutation_p.W292* NM_000354 NP_000345 P05543 THBG_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA. 292 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) TAAGCGGTTCCACTTCTTCAG 0.493000 78 72 0 0 0.003610 0 0 PRDX6 9588 broad.mit.edu 37 1 173455410 173455410 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:173455410C>T uc001giy.1 + 3 467 c.416C>T c.(415-417)cCt>cTt p.P139L NM_004905 NP_004896 P30041 PRDX6_HUMAN Homo sapiens peroxiredoxin 6 (PRDX6), mRNA. 139 Thioredoxin. cell redox homeostasis|phospholipid catabolic process cytoplasmic membrane-bounded vesicle|cytosol|lysosome peroxiredoxin activity|phospholipase A2 activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 12 GTTTTTGGTCCTGATAAGAAG 0.428000 179 53 0 0 0.003610 0 0 PLD2 5338 broad.mit.edu 37 17 4714154 4714154 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:4714154C>T uc002fzc.3 + 9 1044 c.918C>T c.(916-918)atC>atT p.I306I PLD2_uc010vsj.2_Silent_p.I163I|PLD2_uc002fzd.3_Silent_p.I306I NM_002663 NP_002654 O14939 PLD2_HUMAN Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA. 306 PH. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) CCCAAGAGATCACTGAGCTGG 0.617000 71 13 0 0 0.001855 0 0 COL6A3 1293 broad.mit.edu 37 2 238275613 238275613 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:238275613C>T uc002vwl.2 - 10 5502 c.5217G>A c.(5215-5217)ctG>ctA p.L1739L COL6A3_uc002vwo.2_Silent_p.L1533L|COL6A3_uc010znj.1_Silent_p.L1132L NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 1739 Nonhelical region.|VWFA 9. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCCGCTGGTCCAGGCGGCTGC 0.587000 38 21 0 0 0.002780 0 0 TBC1D14 57533 broad.mit.edu 37 4 7026970 7026970 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:7026970G>A uc011bwg.2 + 12 2076 c.1997G>A c.(1996-1998)cGa>cAa p.R666Q TBC1D14_uc003gjs.4_Missense_Mutation_p.R666Q|TBC1D14_uc010idh.3_Missense_Mutation_p.R386Q|TBC1D14_uc011bwh.2_Missense_Mutation_p.R313Q|TBC1D14_uc003gju.4_Missense_Mutation_p.R157Q NM_001113361 NP_065824 Q9P2M4 TBC14_HUMAN Homo sapiens TBC1 domain family, member 14 (TBC1D14), transcript variant 2, mRNA. 666 intracellular Rab GTPase activator activity breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 22 ATGCAGAGCCGAAACAAGAAG 0.607000 37 11 0 0 0.000978 0 0 CCDC155 147872 broad.mit.edu 37 19 49912493 49912493 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:49912493G>A uc002pnm.2 + 13 1304 c.1099G>A c.(1099-1101)Gag>Aag p.E367K CCDC155_uc010emx.2_Missense_Mutation_p.E340K NM_144688 NP_653289 Q8N6L0 CC155_HUMAN Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA. 367 integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 GGGCTGGACCGAGCTGCTACC 0.617000 25 12 0 0 0.003163 0 0 VAV2 7410 broad.mit.edu 37 9 136650974 136650974 + Nonsense_Mutation SNP C A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr9:136650974C>A uc004ces.3 - 16 1502 c.1456G>T c.(1456-1458)Gga>Tga p.G486* VAV2_uc004cer.3_Nonsense_Mutation_p.G476*|VAV2_uc004cet.1_Nonsense_Mutation_p.G25* NM_001134398 NP_001127870 P52735 VAV2_HUMAN Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA. 486 PH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|metal ion binding breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) CCCTGCTTTCCTTGAAGGTGA 0.537000 9 15 2.31682e-05 3.24046e-05 0.003163 1 0 PPFIA1 8500 broad.mit.edu 37 11 70208214 70208214 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:70208214G>A uc001opo.3 + 19 2811 c.2596G>A c.(2596-2598)Gag>Aag p.E866K PPFIA1_uc001opn.2_Missense_Mutation_p.E866K|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opr.3_5'UTR NM_003626 NP_003617 Q13136 LIPA1_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA. 866 E -> G (in Ref. 3; AAH34046). cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TGAATTGCTGGAGGAAGCCCG 0.498000 79 30 0 0 0.002836 0 0 KLF10 7071 broad.mit.edu 37 8 103662565 103662565 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:103662565G>A uc011lhk.1 - 3 1392 c.1238C>T c.(1237-1239)tCt>tTt p.S413F KLF10_uc011lhj.1_Missense_Mutation_p.S402F NM_005655 NP_005646 Q13118 KLF10_HUMAN Homo sapiens Kruppel-like factor 10 (KLF10), transcript variant 1, mRNA. 413 cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3) 18 all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169) OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826) CAGTTCATCAGAACGGGCAAA 0.468000 41 11 0 0 0.008291 0 0 C11orf82 220042 broad.mit.edu 37 11 82643115 82643115 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:82643115C>T uc001ozt.3 + 5 979 c.735C>T c.(733-735)ttC>ttT p.F245F C11orf82_uc010rsr.2_5'UTR|C11orf82_uc010rss.2_5'UTR|C11orf82_uc009yvd.2_Intron NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA. 245 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 CACTTGAATTCACTTGCATTG 0.388000 80 34 0 0 0.003755 0 0 CACNG3 10368 broad.mit.edu 37 16 24268286 24268286 + Splice_Site SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:24268286G>A uc002dmf.3 + 1 1413 c.211_splice c.e1+1 p.G71_splice NM_006539 NP_006530 O60359 CCG3_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA. 71 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) CTGCCTAGAAGGTATTTACAA 0.428000 23 17 0 0 0.004990 0 0 COL11A1 1301 broad.mit.edu 37 1 103427818 103427818 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:103427818C>T uc001dum.3 - 39 3382 c.3064G>A c.(3064-3066)Gat>Aat p.D1022N COL11A1_uc001duk.3_Missense_Mutation_p.D206N|COL11A1_uc001dul.3_Missense_Mutation_p.D1010N|COL11A1_uc001dun.3_Missense_Mutation_p.D971N|COL11A1_uc009weh.3_Missense_Mutation_p.D894N NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 1010 Triple-helical region. 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) GGACCTGGATCACCCTAAAGA 0.388000 71 32 0 0 0.002836 0 0 TNXB 7148 broad.mit.edu 37 6 32053810 32053810 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:32053810G>A uc003nzl.2 - 6 3067 c.2865C>T c.(2863-2865)ctC>ctT p.L955L NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 1042 Fibronectin type-III 2. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCTGCTGCAGGAGAGGAGCCT 0.682000 315 79 0 0 0.003610 0 0 EEF1A2 1917 broad.mit.edu 37 20 62120406 62120406 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr20:62120406C>T uc002yfe.1 - 6 1295 c.1129G>A c.(1129-1131)Gag>Aag p.E377K NM_001958 NP_001949 Q05639 EF1A2_HUMAN Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA. 377 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) TCAATCTTCTCCTTCAGCTCC 0.612000 52 29 0 0 0.005443 0 0 KANSL1 284058 broad.mit.edu 37 17 44128027 44128027 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:44128027G>A uc002ikc.3 - 6 2363 c.1892C>T c.(1891-1893)cCc>cTc p.P631L KANSL1_uc002ikd.3_Missense_Mutation_p.P631L|KANSL1_uc010dav.3_Missense_Mutation_p.P631L NM_001193466 NP_056258 Q7Z3B3 K1267_HUMAN Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA. 631 MLL1 complex protein binding TGCGCAGGAGGGATTCACATC 0.498000 17 10 0 0 0.000978 0 0 ING2 3622 broad.mit.edu 37 4 184431571 184431571 + Silent SNP T A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:184431571T>A uc003ivs.1 + 1 438 c.309T>A c.(307-309)atT>atA p.I103I ING2_uc011ckk.1_Silent_p.I63I NM_001564 NP_001555 Q9H160 ING2_HUMAN Homo sapiens inhibitor of growth family, member 2 (ING2), mRNA. 103 chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent CCAAT-binding factor complex|Sin3 complex DNA binding|chromatin binding|protein complex binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1) 7 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) AAATACAGATTGTTACACAAA 0.388000 103 47 0 0 0.002852 0 0 CLEC14A 161198 broad.mit.edu 37 14 38723892 38723892 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:38723892C>T uc001wum.1 - 0 1683 c.1336G>A c.(1336-1338)Gat>Aat p.D446N NM_175060 NP_778230 Q86T13 CLC14_HUMAN Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA. 446 integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) GGCTCAGGATCACTCTCCAGG 0.582000 71 20 0 0 0.001882 0 0 SCN1A 6323 broad.mit.edu 37 2 166903433 166903433 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:166903433G>A uc002udo.4 - 10 1451 c.1224C>T c.(1222-1224)ttC>ttT p.F408F SCN1A_uc010fpk.3_Silent_p.F408F|SCN1A_uc021vsb.1_Silent_p.F408F NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 408 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) ATGAGCCCAAGAAAATGACCA 0.393000 53 30 0 0 0.002445 0 0 SIRPB1 10326 broad.mit.edu 37 20 1551693 1551693 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr20:1551693C>T uc010gai.3 - 3 941 c.842G>A c.(841-843)gGa>gAa p.G281E SIRPB1_uc002wfk.4_Intron NM_006065 NP_006056 O00241 SIRB1_HUMAN Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA. 281 Ig-like C1-type 2. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CAGCTGTAGTCCCCGGGGGTA 0.542000 57 19 0 0 0.007413 0 0 HDGFL1 154150 broad.mit.edu 37 6 22570479 22570479 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:22570479G>A uc003nds.3 + 0 802 c.675G>A c.(673-675)cgG>cgA p.R225R NM_138574 NP_612641 Q5TGJ6 HDGL1_HUMAN Homo sapiens hepatoma derived growth factor-like 1 (HDGFL1), mRNA. 225 Glu-rich. kidney(1)|large_intestine(3)|lung(7) 11 Ovarian(93;0.163) AGGAGCTCCGGGAGGAAGAAG 0.682000 12 14 0 0 0.004990 0 0 NME8 51314 broad.mit.edu 37 7 37936583 37936583 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:37936583C>T uc003tfn.3 + 16 2028 c.1656C>T c.(1654-1656)atC>atT p.I552I NM_016616 NP_057700 Q8N427 TXND3_HUMAN Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA. 552 NDK 3. CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity CTGACTCCATCCGAGCCCAGT 0.438000 65 23 0 0 0.001882 0 0 C9orf43 257169 broad.mit.edu 37 9 116185748 116185748 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr9:116185748C>T uc004bhp.3 + 6 1072 c.626C>T c.(625-627)tCc>tTc p.S209F C9orf43_uc004bho.4_Missense_Mutation_p.S209F NM_152786 NP_689999 Q8TAL5 CI043_HUMAN Homo sapiens chromosome 9 open reading frame 43 (C9orf43), mRNA. 209 breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 TGGGCTCAATCCGAAGCGTTA 0.502000 36 25 0 0 0.005443 0 0 GPR68 8111 broad.mit.edu 37 14 91701088 91701088 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:91701088C>T uc021ryk.1 - 0 307 c.307G>A c.(307-309)Gag>Aag p.E103K GPR68_uc001xzg.3_Missense_Mutation_p.E103K|GPR68_uc001xzh.3_Missense_Mutation_p.E103K NM_003485 NP_003476 Q15743 OGR1_HUMAN Homo sapiens G protein-coupled receptor 68 (GPR68), transcript variant 2, mRNA. 103 inflammatory response integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 8 all_cancers(154;0.0555) COAD - Colon adenocarcinoma(157;0.21) TAGATGTTCTCGTACAGGAGG 0.612000 24 9 0 0 0.006214 0 0 SPPL2C 162540 broad.mit.edu 37 17 43924223 43924223 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:43924223C>T uc010wka.2 + 0 1968 c.1951C>T c.(1951-1953)Cat>Tat p.H651Y MAPT-AS1_uc010wjz.2_Intron NM_175882 NP_787078 Q8IUH8 IMP5_HUMAN Homo sapiens intramembrane protease 5 (IMP5), mRNA. 651 integral to membrane aspartic-type endopeptidase activity GGGCCATGTCCATGCCCAGGC 0.642000 44 31 0 0 0.008361 0 0 FBLN2 2199 broad.mit.edu 37 3 13613099 13613099 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:13613099C>T uc011avc.2 + 1 1626 c.1244C>T c.(1243-1245)tCc>tTc p.S415F FBLN2_uc011auz.2_Missense_Mutation_p.S441F|FBLN2_uc011avb.2_Missense_Mutation_p.S415F|FBLN2_uc011ava.2_Missense_Mutation_p.S415F NM_001165035 NP_001158507 P98095 FBLN2_HUMAN Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA. 415 N.|Subdomain NB (Cys-free). proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CTGCCCCATTCCCACGTGGAG 0.582000 26 8 0 0 0.006214 0 0 RSRC1 51319 broad.mit.edu 37 3 158262013 158262013 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:158262013G>A uc003fbt.3 + 9 1065 c.954G>A c.(952-954)aaG>aaA p.K318K RSRC1_uc003fbv.3_Silent_p.K260K NM_016625 NP_057709 Q96IZ7 RSRC1_HUMAN Homo sapiens arginine/serine-rich coiled-coil 1 (RSRC1), mRNA. 318 nucleocytoplasmic transport cytoplasm|nuclear speck protein binding cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) AATGGTTCAAGAGATTAATTG 0.348000 101 41 0 0 0.003610 0 0 LRRC66 339977 broad.mit.edu 37 4 52862289 52862289 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:52862289G>A uc003gzi.3 - 3 906 c.899C>T c.(898-900)tCc>tTc p.S300F NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA. 300 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 GGTTTCCCTGGAAATCCTGCT 0.522000 70 24 0 0 0.007291 0 0 FCRL3 115352 broad.mit.edu 37 1 157667200 157667200 + Missense_Mutation SNP G A A rs138227125 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:157667200G>A uc001fqz.4 - 5 866 c.574C>T c.(574-576)Cct>Tct p.P192S FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Intron|FCRL3_uc009wso.3_Intron|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Missense_Mutation_p.P192S|FCRL3_uc001frc.1_Missense_Mutation_p.P192S NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Homo sapiens Fc receptor-like 3 (FCRL3), mRNA. 192 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) CTCAGCACAGGATGTAGAAAC 0.532000 60 25 0 0 0.005443 0 0 GLYR1 84656 broad.mit.edu 37 16 4872923 4872923 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:4872923C>T uc002cxx.4 - 6 671 c.634G>A c.(634-636)Gat>Aat p.D212N GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Missense_Mutation_p.D143N|GLYR1_uc002cya.2_Missense_Mutation_p.D212N|GLYR1_uc010uxv.1_Missense_Mutation_p.D131N NM_032569 NP_115958 Q49A26 GLYR1_HUMAN Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA. 212 pentose-phosphate shunt nucleus DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 19 GGATCTGCATCTTTAACAGGC 0.493000 73 39 0 0 0.003610 0 0 FLG 2312 broad.mit.edu 37 1 152277516 152277516 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:152277516G>A uc001ezu.1 - 2 9882 c.9846C>T c.(9844-9846)tcC>tcT p.S3282S NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 3282 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCCACCAGAGGAAGTCTCTG 0.597000 Ichthyosis 390 168 0 0 0.003610 0 0 DPRX 503834 broad.mit.edu 37 19 54137815 54137815 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:54137815G>A uc002qcf.1 + 1 110 c.59G>A c.(58-60)cGa>cAa p.R20Q NM_001012728 NP_001012746 A6NFQ7 DPRX_HUMAN Homo sapiens divergent-paired related homeobox (DPRX), mRNA. 20 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|large_intestine(1)|lung(7) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) CACAGGAAACGAACCATGTTC 0.433000 60 40 0 0 0.002522 0 0 RAB7L1 8934 broad.mit.edu 37 1 205740632 205740632 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:205740632C>T uc001hdf.4 - 3 686 c.346G>A c.(346-348)Gag>Aag p.E116K RAB7L1_uc009xbp.3_Missense_Mutation_p.E44K|RAB7L1_uc001hde.4_Missense_Mutation_p.E116K|RAB7L1_uc010prr.2_Missense_Mutation_p.E92K|RAB7L1_uc009xbq.3_Intron NM_003929 NP_001129136 O14966 RAB7L_HUMAN Homo sapiens RAB7, member RAS oncogene family-like 1 (RAB7L1), transcript variant 1, mRNA. 116 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity|protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 10 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0194) GGCACCGGCTCTCCATTGGGT 0.493000 270 114 0 0 0.003610 0 0 ROBO3 64221 broad.mit.edu 37 11 124739925 124739925 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:124739925G>A uc001qbc.3 + 3 896 c.727G>A c.(727-729)Gga>Aga p.G243R NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA. 243 Ig-like C2-type 2. axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) CAACATGGCGGGAGAACGGGA 0.522000 29 9 0 0 0.006214 0 0 CDRT1 374286 broad.mit.edu 37 17 15539401 15539401 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:15539401C>T uc002gor.1 - 2 1135 c.798G>A c.(796-798)aaG>aaA p.K266K CDRT1_uc002gow.3_Silent_p.K50K|CDRT1_uc002gox.3_Silent_p.K266K|CDRT1_uc002goy.3_Silent_p.K136K O95170 CDRT1_HUMAN Homo sapiens tripartite motif containing 16 (TRIM16), mRNA. 0 endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541) CCAGCTCCTGCTTGCTCTTCT 0.592000 65 13 0 0 0.003163 0 0 CR1L 1379 broad.mit.edu 37 1 207851610 207851610 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:207851610C>T uc001hga.4 + 2 466 c.345C>T c.(343-345)ttC>ttT p.F115F CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript NM_175710 NP_783641 Q2VPA4 CR1L_HUMAN Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA. 115 Sushi 2. cytoplasm|extracellular region|membrane p.F115F(1)|p.F123F(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 ACATCCAGTTCAGATCCCAAA 0.408000 67 36 0 0 0.006230 0 0 MKS1 54903 broad.mit.edu 37 17 56291736 56291736 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:56291736G>A uc002ivr.2 - 5 603 c.528C>T c.(526-528)atC>atT p.I176I MKS1_uc010wnq.2_5'UTR|MKS1_uc021uam.1_Silent_p.I166I NM_017777 NP_060247 Q9NXB0 MKS1_HUMAN Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA. 176 cilium assembly centrosome|cilium|microtubule basal body protein binding p.I176I(3) endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 GTGACTTGAGGATGCCGCCCT 0.557000 57 10 0 0 0.008291 0 0 HDAC9 9734 broad.mit.edu 37 7 18674361 18674361 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:18674361C>T uc003sui.3 + 6 949 c.908C>T c.(907-909)gCc>gTc p.A303V HDAC9_uc003sue.3_Missense_Mutation_p.A300V|HDAC9_uc011jyd.2_Missense_Mutation_p.A300V|HDAC9_uc003suh.3_Missense_Mutation_p.A300V|HDAC9_uc003suj.3_Missense_Mutation_p.A259V|HDAC9_uc011jya.2_Missense_Mutation_p.A298V|HDAC9_uc003sua.1_Missense_Mutation_p.A278V|HDAC9_uc003sud.2_Missense_Mutation_p.A300V|HDAC9_uc011jyc.2_Missense_Mutation_p.A259V|HDAC9_uc011jyb.2_Missense_Mutation_p.A256V|HDAC9_uc003suf.2_Missense_Mutation_p.A331V|HDAC9_uc010kud.2_Missense_Mutation_p.A303V|HDAC9_uc011jye.2_Missense_Mutation_p.A272V|HDAC9_uc011jyf.2_Missense_Mutation_p.A223V|HDAC9_uc010kue.1_Missense_Mutation_p.A43V NM_178425 NP_848512 Q9UKV0 HDAC9_HUMAN Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA. 300 Interaction with MAPK10 (By similarity). B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) ACCCCTCATGCCGAGGTAAGA 0.408000 6 6 0 0 0.004482 0 0 ALS2CR8 79800 broad.mit.edu 37 2 203839116 203839116 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:203839116C>T uc002uzo.2 + 11 1671 c.1391C>T c.(1390-1392)tCt>tTt p.S464F ALS2CR8_uc010ftu.1_Non-coding_Transcript|ALS2CR8_uc010zia.1_Missense_Mutation_p.S388F|ALS2CR8_uc010zib.1_Missense_Mutation_p.S388F|ALS2CR8_uc010zic.1_Missense_Mutation_p.S376F|ALS2CR8_uc002uzp.2_Missense_Mutation_p.S464F NM_001104586 NP_079020 Q8N187 AL2S8_HUMAN Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA. 464 breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 20 CATAATTTATCTTTTTTTCCA 0.318000 267 90 0 0 0.003610 0 0 TMEM175 84286 broad.mit.edu 37 4 946159 946159 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:946159C>T uc003gbq.3 + 6 481 c.383C>T c.(382-384)tCg>tTg p.S128L TMEM175_uc010ibl.1_Missense_Mutation_p.S128L|TMEM175_uc003gbp.1_Missense_Mutation_p.S46L|TMEM175_uc003gbs.3_Missense_Mutation_p.S11L|TMEM175_uc003gbt.3_Missense_Mutation_p.S11L|TMEM175_uc003gbr.3_Missense_Mutation_p.S46L NM_032326 NP_115702 Q9BSA9 TM175_HUMAN Homo sapiens transmembrane protein 175 (TMEM175), mRNA. 128 integral to membrane p.S128L(2) NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) TAACAGTTTTCGTTAATGGTG 0.562000 157 59 0 0 0.003610 0 0 SQRDL 58472 broad.mit.edu 37 15 45981393 45981393 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr15:45981393C>T uc001zvu.3 + 9 1466 c.1273C>T c.(1273-1275)Ctg>Ttg p.L425L SQRDL_uc001zvv.3_Silent_p.L425L NM_021199 NP_067022 Q9Y6N5 SQRD_HUMAN Homo sapiens sulfide quinone reductase-like (yeast) (SQRDL), nuclear gene encoding mitochondrial protein, mRNA. 425 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 11 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) GATGCCTTTCCTGTATTGGAA 0.468000 82 29 0 0 0.008361 0 0 OR51I1 390063 broad.mit.edu 37 11 5462097 5462097 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:5462097G>A uc010qze.2 - 0 687 c.648C>T c.(646-648)atC>atT p.I216I HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA. 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGAAAGCAGGATGAAAGTTG 0.458000 36 5 0 0 0.000602 0 0 NF2 4771 broad.mit.edu 37 22 30035088 30035088 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr22:30035088C>T uc003age.4 + 2 693 c.250C>T c.(250-252)Cat>Tat p.H84Y NF2_uc003afy.4_Missense_Mutation_p.H84Y|NF2_uc003afz.4_Intron|NF2_uc003agf.4_Missense_Mutation_p.H84Y|NF2_uc003agb.4_Missense_Mutation_p.H7Y|NF2_uc003agc.4_Missense_Mutation_p.H46Y|NF2_uc003agd.4_Intron|NF2_uc003agg.4_Missense_Mutation_p.H84Y|NF2_uc003aga.4_Missense_Mutation_p.H42Y|NF2_uc003agh.4_Intron|NF2_uc003agi.4_Intron|NF2_uc003agj.4_Missense_Mutation_p.H84Y NM_000268 NP_000259 P35240 MERL_HUMAN Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA. 84 FERM. Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(3)|p.H84_F100del(2)|p.H84fs*39(1) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 GGTACTGGATCATGATGTTTC 0.433000 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 43 35 0 0 0.003271 0 0 OR1G1 8390 broad.mit.edu 37 17 3030147 3030147 + Silent SNP C T T rs146714964 byFrequency TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:3030147C>T uc002fvc.1 - 0 699 c.699G>A c.(697-699)ggG>ggA p.G233G NM_003555 NP_003546 P47890 OR1G1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA. 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(3)|skin(3) 11 CTTTCCGCTTCCCCTGAGCTG 0.488000 43 13 0 0 0.001855 0 0 RING1 6015 broad.mit.edu 37 6 33178988 33178988 + Missense_Mutation SNP G T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:33178988G>T uc003odk.3 + 4 703 c.509G>T c.(508-510)aGt>aTt p.S170I RING1_uc011dqx.1_Missense_Mutation_p.S170I|RING1_uc003odl.3_Missense_Mutation_p.S141I NM_002931 NP_002922 Q06587 RING1_HUMAN Homo sapiens ring finger protein 1 (RING1), mRNA. 170 Necessary for transcriptional repression (By similarity). histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent PcG protein complex|cytoplasm|nuclear speck protein binding|zinc ion binding endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4) 17 ACAACGATGAGTGGGGGGGAA 0.617000 177 161 3.98587e-82 5.70188e-82 0.003610 1 0 GABRA3 2556 broad.mit.edu 37 X 151514098 151514098 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:151514098G>A uc010ntk.1 - 2 457 c.217C>T c.(217-219)Cgt>Tgt p.R73C NM_000808 NP_000799 P34903 GBRA3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA. 73 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding p.R73H(2) 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) TCCAGAAGACGATCCAAGATT 0.473000 18 31 0 0 0.002445 0 0 CCDC158 339965 broad.mit.edu 37 4 77290760 77290760 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:77290760C>T uc003hkb.4 - 9 1319 c.1166G>A c.(1165-1167)aGg>aAg p.R389K NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA. 389 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 CTCCTTCTCCCTTTTGTGTAG 0.433000 56 14 0 0 0.004007 0 0 RFX3 5991 broad.mit.edu 37 9 3293183 3293183 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr9:3293183G>A uc003zhr.3 - 6 937 c.625C>T c.(625-627)Ctt>Ttt p.L209F RFX3_uc010mhd.3_Missense_Mutation_p.L209F|RFX3_uc003zhs.1_Missense_Mutation_p.L209F|RFX3_uc003zht.1_Missense_Mutation_p.L209F|RFX3_uc010mhe.1_Missense_Mutation_p.L184F NM_134428 NP_602304 P48380 RFX3_HUMAN Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA. 209 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) CAGTGTCGAAGGTAGTGGTTG 0.448000 40 35 0 0 0.003755 0 0 STIM2 57620 broad.mit.edu 37 4 27010420 27010420 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:27010420G>A uc003gsg.4 + 9 1813 c.1285G>A c.(1285-1287)Gaa>Aaa p.E429K STIM2_uc003gsh.4_Missense_Mutation_p.E437K|STIM2_uc010iex.3_Missense_Mutation_p.E429K|STIM2_uc010iey.3_Missense_Mutation_p.E140K NM_020860 NP_065911 Q9P246 STIM2_HUMAN Homo sapiens stromal interaction molecule 2 (STIM2), transcript variant 2, mRNA. 429 activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 25 Breast(46;0.0503) TTGTTTACGAGAACGACTTTT 0.413000 62 19 0 0 0.006122 0 0 NEUROD1 4760 broad.mit.edu 37 2 182542604 182542604 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:182542604G>A uc021vto.1 - 0 984 c.984C>T c.(982-984)atC>atT p.I328I CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Silent_p.I328I|NEUROD1_uc021vtn.1_Silent_p.I328I NM_002500 NP_002491 Q13562 NDF1_HUMAN Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA. 328 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) TGTCTATGGGGATCTCGCAGC 0.507000 433 176 0 0 0.003610 0 0 LIPI 149998 broad.mit.edu 37 21 15561360 15561360 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr21:15561360G>A uc002yjm.3 - 1 500 c.490C>T c.(490-492)Ctt>Ttt p.L164F LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.L143F|LIPI_uc021whh.1_Missense_Mutation_p.L143F|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Missense_Mutation_p.L143F|LIPI_uc021whe.1_Missense_Mutation_p.L143F|LIPI_uc021whf.1_Missense_Mutation_p.L143F NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN Homo sapiens lipase, member I (LIPI), mRNA. 143 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity p.L164V(2) endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) CTTACCAAAAGATTTTTAATG 0.333000 48 13 0 0 0.002450 0 0 OPRL1 4987 broad.mit.edu 37 20 62729389 62729389 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr20:62729389C>T uc002yic.3 + 3 887 c.468C>T c.(466-468)atC>atT p.I156I OPRL1_uc002yid.3_Silent_p.I156I|OPRL1_uc021wgs.1_Silent_p.I156I|OPRL1_uc002yif.4_Silent_p.I151I NM_182647 NP_872588 P41146 OPRX_HUMAN Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA. 156 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane X-opioid receptor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) GCCACCCCATCCGTGCCCTCG 0.572000 98 40 0 0 0.008740 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841730 8841730 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:8841730C>T uc010xkg.2 + 0 340 c.340C>T c.(340-342)Ctg>Ttg p.L114L NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA. 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TGAGGGCGTCCTGTTGGTCCT 0.537000 32 23 0 0 0.002299 0 0 KRT5 3852 broad.mit.edu 37 12 52910933 52910933 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:52910933C>T uc001san.3 - 5 1339 c.1176G>A c.(1174-1176)atG>atA p.M392I KRT5_uc009zmh.3_Missense_Mutation_p.M392I NM_000424 NP_000415 P13647 K2C5_HUMAN Homo sapiens keratin 5 (KRT5), mRNA. 392 Coil 2.|Rod. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) GCCTCTGGATCATCCGGTTCA 0.522000 132 43 0 0 0.007835 0 0 PLAG1 5324 broad.mit.edu 37 8 57079666 57079666 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:57079666G>A uc003xsq.4 - 2 1090 c.639C>T c.(637-639)ttC>ttT p.F213F PLAG1_uc003xsr.4_Silent_p.F213F|PLAG1_uc010lyi.3_Silent_p.F213F|PLAG1_uc010lyj.3_Silent_p.F131F|PLAG1_uc022aur.1_Silent_p.F131F NM_001114635 NP_001108107 Q6DJT9 PLAG1_HUMAN Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA. 213 Decreased nuclear import with localization in the nucleus but also in the cytoplasm. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) ACTGACAGAGGAAGTCCTTTC 0.463000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 48 17 0 0 0.006122 0 0 LDHA 3939 broad.mit.edu 37 11 18425337 18425337 + Missense_Mutation SNP T C C TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:18425337T>C uc001mok.3 + 5 961 c.689T>C c.(688-690)gTt>gCt p.V230A LDHA_uc009yho.2_Missense_Mutation_p.V57A|LDHA_uc001mol.3_Missense_Mutation_p.V230A|LDHA_uc010rdc.1_Missense_Mutation_p.V172A|LDHA_uc021qep.1_Splice_Site_p.E229_splice|LDHA_uc010rdd.2_Missense_Mutation_p.V259A NM_005566 NP_005557 P00338 LDHA_HUMAN Homo sapiens lactate dehydrogenase A (LDHA), transcript variant 1, mRNA. 230 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity|protein binding central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4) 12 NADH(DB00157) TGGAAAGAGGTTCACAAGCAG 0.353000 26 23 0 0 0.003330 0 0 ELMO2 63916 broad.mit.edu 37 20 45017681 45017681 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr20:45017681G>A uc010zxr.1 - 6 632 c.422C>T c.(421-423)tCc>tTc p.S141F ELMO2_uc002xrt.1_Missense_Mutation_p.S141F|ELMO2_uc002xru.1_Missense_Mutation_p.S141F|ELMO2_uc010zxs.1_5'UTR|ELMO2_uc002xrw.3_5'Flank|ELMO2_uc002xrx.1_Missense_Mutation_p.S141F NM_182764 NP_877496 Q96JJ3 ELMO2_HUMAN Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA. 141 apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane SH3 domain binding|lyase activity|receptor tyrosine kinase binding breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1) 16 Myeloproliferative disorder(115;0.0122) TACTCACTGGGACAAGAGCTT 0.483000 64 25 0 0 0.004656 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563764 140563764 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:140563764G>A uc003liv.3 + 0 2785 c.1630G>A c.(1630-1632)Gag>Aag p.E544K NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN Homo sapiens protocadherin beta 16 (PCDHB16), mRNA. 544 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.S543R(2) breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTGAGCAGCGAGGCGCTGGT 0.697000 20 31 0 0 0.004289 0 0 CXCL12 6387 broad.mit.edu 37 10 44876329 44876329 + Splice_Site SNP C A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:44876329C>A uc001jbf.3 - 2 154 c.62_splice c.e2-1 p.G21_splice CXCL12_uc001jbh.3_Splice_Site_p.G21_splice|CXCL12_uc021ppm.1_Splice_Site_p.G21_splice|CXCL12_uc001jbi.3_Splice_Site_p.G21_splice NM_000609 NP_000600 P48061 SDF1_HUMAN Homo sapiens chemokine (C-X-C motif) ligand 12 (CXCL12), transcript variant 2, mRNA. 21 G-protein coupled receptor protein signaling pathway|blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity endometrium(1)|large_intestine(1)|lung(3)|skin(1) 6 Dexamethasone(DB01234) ACGGGCTTCCCTAGAAGAGGT 0.493000 461 8 0.00448238 0.00624154 0.004482 1 0 C7orf61 402573 broad.mit.edu 37 7 100054486 100054486 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:100054486G>A uc003uuz.1 - 2 756 c.510C>T c.(508-510)cgC>cgT p.R170R NM_001004323 NP_001004323 Q8IZ16 CG061_HUMAN Homo sapiens chromosome 7 open reading frame 61 (C7orf61), mRNA. 170 central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1) 4 GGTACAGCCGGCGCAGGTGTT 0.632000 17 11 0 0 0.000978 0 0 GABRA2 2555 broad.mit.edu 37 4 46314709 46314709 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:46314709G>A uc011bzc.1 - 3 527 c.115C>T c.(115-117)Cga>Tga p.R39* GABRA2_uc003gxc.3_Nonsense_Mutation_p.R94*|GABRA2_uc010igc.2_Nonsense_Mutation_p.R94*|GABRA2_uc003gxe.3_Nonsense_Mutation_p.R94* P47869 GBRA2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA. 94 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity p.R94*(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CATTTTTGTCGAAAGAAAACA 0.279000 31 10 0 0 0.008291 0 0 ZBTB40 9923 broad.mit.edu 37 1 22852732 22852732 + Missense_Mutation SNP A G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:22852732A>G uc001bft.2 + 18 4074 c.3563A>G c.(3562-3564)cAg>cGg p.Q1188R ZBTB40_uc001bfu.2_Missense_Mutation_p.Q1188R|ZBTB40_uc009vqi.1_Missense_Mutation_p.Q1076R NM_001083621 NP_055685 Q9NUA8 ZBT40_HUMAN Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA. 1188 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CCGACAGAGCAGGTGATCACT 0.582000 52 31 0 0 0.008361 0 0 ATP2C2 9914 broad.mit.edu 37 16 84438821 84438821 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:84438821G>A uc010chj.3 + 2 387 c.298G>A c.(298-300)Gaa>Aaa p.E100K ATP2C2_uc002fhx.3_Missense_Mutation_p.E100K|ATP2C2_uc002fhy.3_Missense_Mutation_p.E117K|ATP2C2_uc002fhz.3_5'Flank NM_014861 NP_055676 O75185 AT2C2_HUMAN Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA. 100 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 TGACAACAGCGAACCTGTGTG 0.547000 25 17 0 0 0.004990 0 0 TG 7038 broad.mit.edu 37 8 134107327 134107327 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:134107327G>A uc003ytw.3 + 41 7320 c.7279G>A c.(7279-7281)Gag>Aag p.E2427K TG_uc010mdw.3_Missense_Mutation_p.E1186K|TG_uc011ljb.2_Missense_Mutation_p.E796K|TG_uc011ljc.2_Missense_Mutation_p.E560K|SLA_uc003ytz.3_Intron|SLA_uc011lje.2_Intron|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Intron|SLA_uc010mea.2_Intron NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 2427 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CATCAGCCATGAGAGGGCTCA 0.602000 141 50 0 0 0.003610 0 0 GART 2618 broad.mit.edu 37 21 34897290 34897290 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr21:34897290C>T uc002yrz.3 - 10 1395 c.1084G>A c.(1084-1086)Gct>Act p.A362T GART_uc002yrx.3_Missense_Mutation_p.A362T|GART_uc010gmd.3_Missense_Mutation_p.A24T|GART_uc002yry.3_Missense_Mutation_p.A362T|GART_uc002ysa.2_Missense_Mutation_p.A362T NM_001136005 NP_001129478 P22102 PUR2_HUMAN Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA. 362 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding p.Q361E(1) NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) AGTCCTAGAGCTTGAGCCTCA 0.443000 49 12 0 0 0.000978 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43769292 43769292 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:43769292G>A uc010skx.2 - 35 5336 c.5336C>T c.(5335-5337)cCt>cTt p.P1779L NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 1779 GON. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CCCATTAAAAGGACATTGATA 0.363000 116 24 0 0 0.006320 0 0 FAT4 79633 broad.mit.edu 37 4 126370225 126370225 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:126370225G>A uc003ifj.4 + 8 8054 c.8054G>A c.(8053-8055)cGa>cAa p.R2685Q FAT4_uc011cgp.2_Missense_Mutation_p.R983Q|FAT4_uc003ifi.1_Missense_Mutation_p.R163Q NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 2685 Cadherin 26. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R2685Q(3) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTTTCCCCTCGAAAAATACTT 0.348000 106 31 0 0 0.003755 0 0 SLC12A9 56996 broad.mit.edu 37 7 100458768 100458768 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:100458768C>T uc003uwp.3 + 9 1369 c.1227C>T c.(1225-1227)ctC>ctT p.L409L SLC12A9_uc003uwq.3_Silent_p.L320L|SLC12A9_uc011kki.2_5'UTR|SLC12A9_uc003uwr.3_Silent_p.L145L|SLC12A9_uc003uws.3_5'UTR|SLC12A9_uc003uwt.3_Silent_p.L145L|SLC12A9_uc003uwv.3_5'UTR NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA. 409 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) AGCTGGTGCTCCTGGCTGGGA 0.597000 105 43 0 0 0.002222 0 0 KIAA1217 56243 broad.mit.edu 37 10 24669797 24669797 + Splice_Site SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:24669797G>A uc001iru.4 + 3 758 c.355_splice c.e3-1 p.T119_splice KIAA1217_uc001irs.3_Splice_Site_p.T39_splice|KIAA1217_uc001irt.4_Splice_Site_p.T119_splice|KIAA1217_uc010qcy.2_Splice_Site_p.T119_splice|KIAA1217_uc010qcz.2_Splice_Site_p.T119_splice|KIAA1217_uc001irv.1_Splice_Site|KIAA1217_uc010qda.1_Splice_Site NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 119 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GCCTTTTGCAGACAAGGAGCC 0.423000 75 25 0 0 0.003954 0 0 OR4A47 403253 broad.mit.edu 37 11 48510356 48510356 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:48510356G>A uc010rhx.2 + 0 12 c.12G>A c.(10-12)agG>agA p.R4R NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA. 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TGGAGCCAAGGAAAAATGTGA 0.363000 17 6 0 0 0.001168 0 0 MRAS 22808 broad.mit.edu 37 3 138116269 138116269 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:138116269C>T uc003esh.4 + 2 993 c.297C>T c.(295-297)agC>agT p.S99S MRAS_uc011bmi.2_Silent_p.S23S|MRAS_uc003esi.4_Silent_p.S99S|MRAS_uc021xep.1_Silent_p.S23S|MRAS_uc011bmj.2_Silent_p.S23S|MRAS_uc021xeq.1_Silent_p.S99S NM_012219 NP_036351 O14807 RASM_HUMAN Homo sapiens muscle RAS oncogene homolog (MRAS), transcript variant 1, mRNA. 99 Ras protein signal transduction|actin cytoskeleton organization|muscle organ development intracellular|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 14 ACAAGGCCAGCTTTGAGCACG 0.592000 249 135 0 0 0.003610 0 0 ZNF99 7652 broad.mit.edu 37 19 22940944 22940944 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:22940944C>T uc021urt.1 - 3 1922 c.1767G>A c.(1765-1767)ggG>ggA p.G589G NM_001080409 NP_001073878 Homo sapiens zinc finger protein 99 (ZNF99), mRNA. NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AGGGTTTCTCCCCAGTATGAA 0.358000 10 13 0 0 0.003163 0 0 CMTM6 54918 broad.mit.edu 37 3 32529466 32529466 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:32529466G>A uc003cfa.1 - 2 544 c.378C>T c.(376-378)tcC>tcT p.S126S NM_017801 NP_060271 Q9NX76 CKLF6_HUMAN Homo sapiens CKLF-like MARVEL transmembrane domain containing 6 (CMTM6), mRNA. 126 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1) 2 TGTCATGTGTGGAAACAAAAA 0.328000 26 12 0 0 0.001855 0 0 PDGFRB 5159 broad.mit.edu 37 5 149501582 149501582 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:149501582C>T uc003lro.3 - 15 2674 c.2205G>A c.(2203-2205)gaG>gaA p.E735E PDGFRB_uc010jhd.3_Silent_p.E574E NM_002609 NP_002600 P09619 PGFRB_HUMAN Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA. 735 Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity p.G734W(1) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CACCGTCGCTCTCCCCGGTCA 0.567000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 40 4 0 0 0.000248 0 0 STARD8 9754 broad.mit.edu 37 X 67942407 67942407 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:67942407C>T uc004dxb.3 + 11 2932 c.2718C>T c.(2716-2718)gaC>gaT p.D906D STARD8_uc004dxa.3_Silent_p.D826D|STARD8_uc004dxc.4_Silent_p.D826D NM_001142503 NP_055540 Q92502 STAR8_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA. 826 START. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 ATATCCAGGACCTGCTGCGTG 0.647000 14 7 0 0 0.004482 0 0 OLFM1 10439 broad.mit.edu 37 9 137987737 137987737 + Missense_Mutation SNP G T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr9:137987737G>T uc010nar.3 + 2 347 c.328G>T c.(328-330)Gtc>Ttc p.V110F OLFM1_uc004cfk.4_Missense_Mutation_p.V92F|OLFM1_uc004cfl.4_Missense_Mutation_p.V92F NM_014279 NP_055094 Q99784 NOE1_HUMAN Homo sapiens olfactomedin 1 (OLFM1), transcript variant 1, mRNA. 110 nervous system development endoplasmic reticulum lumen protein binding p.Q110K(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2) 21 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) ATCCATAGAGGTCTTGGACAG 0.512000 34 30 1.45844e-13 2.06749e-13 0.002836 1 0 PRPSAP1 5635 broad.mit.edu 37 17 74328391 74328391 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:74328391C>T uc010wtb.1 - 3 328 c.107G>A c.(106-108)aGg>aAg p.R36K PRPSAP1_uc010wta.1_Missense_Mutation_p.R139K NM_002766 NP_002757 Q14558 KPRA_HUMAN Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA. 110 nucleotide biosynthetic process enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 AATGGAACCCCTCTTCCTCAT 0.552000 147 26 0 0 0.008361 0 0 TPO 7173 broad.mit.edu 37 2 1481010 1481010 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:1481010G>A uc002qwr.3 + 7 1058 c.972G>A c.(970-972)ctG>ctA p.L324L TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.L324L|TPO_uc002qwx.3_Silent_p.L324L|TPO_uc002qwu.3_Silent_p.L324L|TPO_uc010yio.2_Intron|TPO_uc010yip.2_Silent_p.L324L NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 324 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CCTCGTTCCTGGACGCGTCCA 0.701000 35 12 0 0 0.000978 0 0 ING3 54556 broad.mit.edu 37 7 120610780 120610780 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:120610780C>T uc003vjn.3 + 9 1081 c.947C>T c.(946-948)tCc>tTc p.S316F ING3_uc003vjo.3_Missense_Mutation_p.S90F|ING3_uc003vjp.3_Missense_Mutation_p.S316F|ING3_uc011kns.2_Missense_Mutation_p.S301F NM_019071 NP_061944 Q9NXR8 ING3_HUMAN Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA. 316 Poly-Ser. histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex zinc ion binding NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 12 all_neural(327;0.117) TCATCATCTTCCTCCTCCTCT 0.363000 44 9 0 0 0.008291 0 0 GPRC6A 222545 broad.mit.edu 37 6 117150041 117150041 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:117150041C>T uc003pxj.1 - 0 158 c.136G>A c.(136-138)Gaa>Aaa p.E46K GPRC6A_uc003pxk.1_Missense_Mutation_p.E46K|GPRC6A_uc003pxl.1_Missense_Mutation_p.E46K NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA. 46 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) AACATTTTTTCATGAATAGCA 0.433000 28 26 0 0 0.007291 0 0 OR52A1 23538 broad.mit.edu 37 11 5172693 5172693 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:5172693G>A uc010qyy.2 - 0 907 c.907C>T c.(907-909)Cgc>Tgc p.R303C NM_012375 NP_036507 Q9UKL2 O52A1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA. 303 sensory perception of smell integral to plasma membrane olfactory receptor activity p.R303C(2) breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACATGAATGCGAATCTGTGTG 0.358000 122 19 0 0 0.002299 0 0 CSMD2 114784 broad.mit.edu 37 1 34128492 34128492 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:34128492G>A uc001bxm.1 - 25 4430 c.4253C>T c.(4252-4254)tCa>tTa p.S1418L CSMD2_uc001bxn.1_Missense_Mutation_p.S1378L|CSMD2_uc001bxo.1_Missense_Mutation_p.S291L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1378 Sushi 8. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCACAGACCTGAAAATTGAAT 0.572000 125 22 0 0 0.002780 0 0 KCNU1 157855 broad.mit.edu 37 8 36691136 36691136 + Missense_Mutation SNP T C C TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:36691136T>C uc010lvw.3 + 10 1258 c.1171T>C c.(1171-1173)Tct>Cct p.S391P KCNU1_uc003xjw.2_Non-coding_Transcript NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA. 391 RCK N-terminal. voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) AACGTTCATTTCTGGATCTGC 0.403000 45 14 0 0 0.004990 0 0 BLM 641 broad.mit.edu 37 15 91354460 91354460 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr15:91354460C>T uc002bpr.3 + 20 3997 c.3900C>T c.(3898-3900)agC>agT p.S1300S BLM_uc010uqh.2_Silent_p.S1300S|BLM_uc010uqi.2_Silent_p.S925S|BLM_uc010bnx.3_Silent_p.S1169S NM_000057 NP_000048 P54132 BLM_HUMAN Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA. 1300 G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray PML body|cytoplasm|lateral element|nuclear matrix|nucleolus ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) CAGGGATAAGCCTGTCCAGCA 0.478000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 291 100 0 0 0.003610 0 0 TMC5 79838 broad.mit.edu 37 16 19451758 19451758 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:19451758G>A uc002dgc.4 + 2 1147 c.398G>A c.(397-399)cGa>cAa p.R133Q TMC5_uc010vaq.2_Missense_Mutation_p.R133Q|TMC5_uc002dgb.4_Missense_Mutation_p.R133Q|TMC5_uc010var.2_Missense_Mutation_p.R133Q NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 133 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GGATCTCAACGAAATCCTGAT 0.498000 164 87 0 0 0.003610 0 0 NXF3 56000 broad.mit.edu 37 X 102339406 102339406 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:102339406G>A uc004eju.3 - 2 286 c.215C>T c.(214-216)tCa>tTa p.S72L NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Missense_Mutation_p.S72L|NXF3_uc011mrx.1_5'UTR NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA. 72 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 ATTATAGGGTGAAATAGTATA 0.428000 33 47 0 0 0.003610 0 0 ZNF695 57116 broad.mit.edu 37 1 247163224 247163224 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:247163224G>A uc009xgu.3 - 1 341 c.156C>T c.(154-156)ttC>ttT p.F52F ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF695_uc009xgt.2_Non-coding_Transcript|ZNF695_uc001ibx.3_Silent_p.F52F|ZNF695_uc001iby.3_Non-coding_Transcript|ZNF695_uc001icc.3_Intron NM_020394 NP_065127 Q8IW36 ZN695_HUMAN Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA. 52 KRAB. regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TGTGAAATAGGAATTGCATAT 0.398000 28 19 0 0 0.006122 0 0 PDE1C 5137 broad.mit.edu 37 7 31862772 31862772 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:31862772G>A uc003tcm.2 - 13 1958 c.1497C>T c.(1495-1497)atC>atT p.I499I PDE1C_uc003tcn.1_Silent_p.I499I|PDE1C_uc003tco.2_Silent_p.I559I|PDE1C_uc003tcr.3_Silent_p.I499I|PDE1C_uc003tcs.3_Silent_p.I499I NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 499 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) AGTCAACGGAGATGACAGAAT 0.488000 95 41 0 0 0.006230 0 0 ADORA3 140 broad.mit.edu 37 1 112042689 112042689 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:112042689G>A uc001ebh.4 - 1 1607 c.840C>T c.(838-840)atC>atT p.I280I ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Intron NM_000677 NP_000668 P33765 AA3R_HUMAN Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA. 280 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) AGGCATAGACGATAGGGTTCA 0.443000 42 7 0 0 0.003080 0 0 E4F1 1877 broad.mit.edu 37 16 2285568 2285568 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:2285568G>A uc002cpm.3 + 13 2398 c.2350G>A c.(2350-2352)Gtc>Atc p.V784I E4F1_uc010bsi.3_3'UTR|E4F1_uc010bsj.3_Missense_Mutation_p.V607I|DNASE1L2_uc002cpn.3_5'Flank|DNASE1L2_uc002cpo.3_5'Flank|DNASE1L2_uc002cpp.3_5'Flank|DNASE1L2_uc002cpq.3_5'Flank NM_004424 NP_004415 Q66K89 E4F1_HUMAN Homo sapiens E4F transcription factor 1 (E4F1), mRNA. 784 cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 GACGGTCATCGTCTAGCATGA 0.642000 11 9 0 0 0.004482 0 0 ABCA9 10350 broad.mit.edu 37 17 66980286 66980286 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:66980286C>T uc002jhu.3 - 34 4553 c.4410G>A c.(4408-4410)acG>acA p.T1470T ABCA9_uc010dez.3_Silent_p.T1432T NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA. 1470 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) CGCCCCTCTCCGTGTTTCTAA 0.517000 71 18 0 0 0.006122 0 0 TPTE 7179 broad.mit.edu 37 21 10998312 10998312 + RNA SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr21:10998312C>T uc002yis.1 - 10 c.1941G>A P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCTGATTTTCCATCACAATCC 0.363000 102 11 0 0 0.001368 0 0 FASN 2194 broad.mit.edu 37 17 80038687 80038687 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:80038687G>A uc002kdu.3 - 38 6824 c.6707C>T c.(6706-6708)tCc>tTc p.S2236F FASN_uc002kdv.1_Non-coding_Transcript NM_004104 NP_004095 P49327 FAS_HUMAN Homo sapiens fatty acid synthase (FASN), mRNA. 2236 Thioesterase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process Golgi apparatus|cytosol|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GCTCTGCACGGAGTTGAGCCG 0.672000 25 16 0 0 0.007413 0 0 FAT3 120114 broad.mit.edu 37 11 92532555 92532555 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:92532555G>A uc001pdj.4 + 8 6393 c.6376G>A c.(6376-6378)Gac>Aac p.D2126N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 2126 Cadherin 19. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCTGCAGGATGACTATGGCCA 0.428000 TCGA Ovarian(4;0.039) 476 159 0 0 0.003610 0 0 OR1D2 4991 broad.mit.edu 37 17 2995652 2995652 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:2995652G>A uc010vrb.2 - 0 639 c.639C>T c.(637-639)ttC>ttT p.F213F NM_002548 NP_002539 P34982 OR1D2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA. 213 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 AAATGATCACGAATCCAAAGG 0.448000 73 15 0 0 0.004990 0 0 CRB2 286204 broad.mit.edu 37 9 126133213 126133213 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr9:126133213C>T uc004bnx.1 + 6 1973 c.1881C>T c.(1879-1881)ttC>ttT p.F627F CRB2_uc004bnw.1_Silent_p.F627F NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA. 627 EGF-like 10. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 GGACTCATTTCCGTTGCGACT 0.622000 28 26 0 0 0.006320 0 0 C14orf49 161176 broad.mit.edu 37 14 95932343 95932343 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:95932343G>A uc001yei.4 - 2 567 c.552C>T c.(550-552)atC>atT p.I184I C14orf49_uc010avi.3_Silent_p.I184I|C14orf49_uc001yej.1_Silent_p.I184I NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA. 184 cytoskeletal anchoring at nuclear membrane SUN-KASH complex|integral to membrane|nuclear outer membrane actin binding breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 50 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) TGGGGTCCCCGATCCTGTTGA 0.637000 78 31 0 0 0.002445 0 0 SYCP1 6847 broad.mit.edu 37 1 115428188 115428188 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:115428188G>A uc001efr.3 + 12 1152 c.943G>A c.(943-945)Gag>Aag p.E315K SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.E315K|SYCP1_uc009wgw.3_Missense_Mutation_p.E315K NM_003176 NP_003167 Q15431 SYCP1_HUMAN Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA. 315 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAATCAATTGAGAAACAGCA 0.264000 56 29 0 0 0.002836 0 0 MUC16 94025 broad.mit.edu 37 19 9049971 9049971 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:9049971G>A uc002mkp.3 - 4 31864 c.31660C>T c.(31660-31662)Ccc>Tcc p.P10554S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10556 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTTGTCCTGGGAAGAGCTGTG 0.488000 100 64 0 0 0.003610 0 0 ALPK3 57538 broad.mit.edu 37 15 85411675 85411676 + Missense_Mutation DNP GG AA AA TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr15:85411675_85411676GG>AA uc002ble.3 + 13 5879_5880 c.5712_5713GG>AA c.(5710-5715)cagggc>caAAgc p.G1905S ALPK3_uc010upc.2_Missense_Mutation_p.G206S NM_020778 NP_065829 Q96L96 ALPK3_HUMAN Homo sapiens alpha-kinase 3 (ALPK3), mRNA. 1905 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCAAGGCCCAGGGCATGCGGTA 0.599000 24 12 0 0 0.004672 0 0 LOC100233156 100233156 broad.mit.edu 37 GL000218.1 39913 39913 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrGL000218.1:39913C>T uc011mfn.2 - 3 493 c.404G>A c.(403-405)cGg>cAg p.R135Q LOC100233156_uc003jah.2_Missense_Mutation_p.R135Q Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA. CATGTTGGGCCGGTGTGAGAG 0.622000 24 4 0 0 0.000602 0 0 DNAH9 1770 broad.mit.edu 37 17 11622780 11622780 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:11622780C>T uc002gne.3 + 26 5750 c.5682C>T c.(5680-5682)ttC>ttT p.F1894F DNAH9_uc010coo.3_Silent_p.F1188F NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 1894 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TCTATGTGTTCAACTGCTCGG 0.607000 66 16 0 0 0.004990 0 0 UGT2B11 10720 broad.mit.edu 37 4 70080096 70080096 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:70080096G>A uc003heh.3 - 0 354 c.345C>T c.(343-345)atC>atT p.I115I AK124272_uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA. 115 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.E114K(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 ATTCCCACAGGATTTCTTGTT 0.299000 71 11 0 0 0.003163 0 0 CACNG3 10368 broad.mit.edu 37 16 24372957 24372957 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:24372957G>A uc002dmf.3 + 3 1923 c.721G>A c.(721-723)Gag>Aag p.E241K NM_006539 NP_006530 O60359 CCG3_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA. 241 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) TCGCTCCACCGAGCCCAGATC 0.572000 43 23 0 0 0.001882 0 0 SPEN 23013 broad.mit.edu 37 1 16258976 16258976 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:16258976C>T uc001axk.1 + 10 6445 c.6241C>T c.(6241-6243)Cga>Tga p.R2081* SPEN_uc010obp.1_Nonsense_Mutation_p.R2040* NM_015001 NP_055816 Q96T58 MINT_HUMAN Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA. 2081 Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent nucleus RNA binding|nucleotide binding|protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AGGAAGATCTCGAAACTCCAG 0.512000 120 21 0 0 0.001523 0 0 MS4A4A 51338 broad.mit.edu 37 11 60059813 60059813 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:60059813G>A uc001noz.3 + 1 292 c.157G>A c.(157-159)Gga>Aga p.G53R MS4A4A_uc001npa.3_Missense_Mutation_p.G34R|MS4A4A_uc001npc.3_Missense_Mutation_p.G53R NM_148975 NP_076926 Q96JQ5 M4A4A_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 4 (MS4A4A), transcript variant 1, mRNA. 53 integral to membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 TCTGTGGAAAGGATTGCAAGA 0.488000 57 11 0 0 0.008291 0 0 CSMD2 114784 broad.mit.edu 37 1 34006190 34006190 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:34006190G>A uc001bxm.1 - 59 9743 c.9566C>T c.(9565-9567)tCc>tTc p.S3189F CSMD2_uc001bxn.1_Missense_Mutation_p.S3045F NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 3165 Sushi 26. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CGCGGGCAGGGAGAGCTGGTA 0.587000 70 27 0 0 0.006320 0 0 PPEF2 5470 broad.mit.edu 37 4 76785644 76785644 + Missense_Mutation SNP T C C TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:76785644T>C uc003hix.3 - 15 2314 c.1957A>G c.(1957-1959)Aac>Gac p.N653D PPEF2_uc003hiy.3_Non-coding_Transcript NM_006239 NP_006230 O14830 PPE2_HUMAN Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA. 653 EF-hand 2. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity p.R652Q(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TTGGATCGGTTTCGATACAAT 0.328000 64 20 0 0 0.002299 0 0 HOXD4 3233 broad.mit.edu 37 2 177017469 177017469 + Missense_Mutation SNP C A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:177017469C>A uc002uks.3 + 1 816 c.567C>A c.(565-567)caC>caA p.H189Q NM_014621 NP_055436 P09016 HXD4_HUMAN Homo sapiens homeobox D4 (HOXD4), mRNA. 189 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H189Y(1) kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) AAATCGCTCACACCCTGTGTC 0.502000 48 21 2.4624e-09 3.46723e-09 0.008871 1 0 APOB 338 broad.mit.edu 37 2 21229477 21229477 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:21229477C>T uc002red.3 - 25 10391 c.10263G>A c.(10261-10263)atG>atA p.M3421I NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3421 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTGACACTTCCATATTTTTCG 0.393000 594 253 0 0 0.003610 0 0 SLC6A1 6529 broad.mit.edu 37 3 11076345 11076345 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:11076345G>A uc010hdq.3 + 14 2067 c.1656G>A c.(1654-1656)atG>atA p.M552I NM_003042 NP_003033 P30531 SC6A1_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA. 552 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) CCGGGTACATGGCCTACATGT 0.577000 85 40 0 0 0.003610 0 0 CLDN1 9076 broad.mit.edu 37 3 190026224 190026224 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:190026224C>T uc003fsh.3 - 3 718 c.478G>A c.(478-480)Gaa>Aaa p.E160K NM_021101 NP_066924 O95832 CLD1_HUMAN Homo sapiens claudin 1 (CLDN1), mRNA. 160 calcium-independent cell-cell adhesion|interspecies interaction between organisms integral to plasma membrane|tight junction identical protein binding|structural molecule activity lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) TGACCAAATTCGTACCTAAAA 0.398000 37 11 0 0 0.000978 0 0 ZNF735 730291 broad.mit.edu 37 7 63680610 63680610 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:63680610C>T uc011kdn.2 + 3 1181 c.1181C>T c.(1180-1182)tCa>tTa p.S394L NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN Homo sapiens zinc finger protein 735 (ZNF735), mRNA. 394 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding AAGTGGCATTCAAGTCTTGCT 0.358000 12 4 0 0 0.000602 0 0 GLB1L2 89944 broad.mit.edu 37 11 134212753 134212753 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:134212753C>T uc001qhp.3 + 1 380 c.192C>T c.(190-192)ttC>ttT p.F64F NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA. 64 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) TCTGGATCTTCGGGGGCTCCA 0.617000 83 11 0 0 0.000978 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140209591 140209591 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:140209591G>A uc003lho.2 + 0 1942 c.1915G>A c.(1915-1917)Gaa>Aaa p.E639K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Missense_Mutation_p.E639K NM_018909 NP_061732 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA. 650 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCCTGGACGAAGCGGACTC 0.667000 64 14 0 0 0.004990 0 0 MGAM 8972 broad.mit.edu 37 7 141736669 141736669 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:141736669C>T uc003vwy.3 + 17 2177 c.2123C>T c.(2122-2124)tCc>tTc p.S708F NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 708 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTGTTGAATTCCTCCAGGCAC 0.547000 248 84 0 0 0.003610 0 0 TIMM8A 1678 broad.mit.edu 37 X 100601521 100601521 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:100601521G>A uc004ehd.2 - 1 565 c.260C>T c.(259-261)tCc>tTc p.S87F NM_004085 NP_004076 O60220 TIM8A_HUMAN Homo sapiens translocase of inner mitochondrial membrane 8 homolog A (yeast) (TIMM8A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 87 nervous system development|protein import into mitochondrial inner membrane|transmembrane transport mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex protein binding endometrium(1)|lung(1) 2 AACTGGCTTGGATTTCTGGGT 0.448000 47 74 0 0 0.003610 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854298 12854298 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:12854298G>A uc001auj.2 + 2 625 c.522G>A c.(520-522)agG>agA p.R174R NM_023013 NP_075389 O95521 PRAM1_HUMAN Homo sapiens PRAME family member 1 (PRAMEF1), mRNA. 174 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTTACCAAAGGAGAGGTTTAG 0.418000 385 44 0 0 0.003610 0 0 GSDMB 55876 broad.mit.edu 37 17 38068655 38068655 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:38068655G>A uc010cwj.3 - 2 462 c.331C>T c.(331-333)Cag>Tag p.Q111* GSDMB_uc010cwl.3_Non-coding_Transcript|GSDMB_uc010cwm.3_Non-coding_Transcript|GSDMB_uc010cwk.3_Non-coding_Transcript|GSDMB_uc002htg.3_Nonsense_Mutation_p.Q111*|GSDMB_uc002hth.3_Nonsense_Mutation_p.Q111*|GSDMB_uc010wem.2_Nonsense_Mutation_p.Q111* NM_001165958 NP_001159430 Q8TAX9 GSDMB_HUMAN Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA. 111 cytoplasm breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2) 21 TGGAAGCCCTGGAAACTGCCT 0.453000 51 28 0 0 0.007291 0 0 DNAI1 27019 broad.mit.edu 37 9 34517343 34517343 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr9:34517343G>A uc003zum.3 + 18 2072 c.1879G>A c.(1879-1881)Gcc>Acc p.A627T NM_012144 NP_036276 Q9UI46 DNAI1_HUMAN Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA. 627 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity p.A627A(1) autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) GCCTGTGGCGGCCAAAAAGAA 0.542000 Kartagener syndrome 19 16 0 0 0.004007 0 0 KBTBD6 89890 broad.mit.edu 37 13 41705387 41705387 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr13:41705387G>A uc001uxu.1 - 0 1550 c.1261C>T c.(1261-1263)Cgc>Tgc p.R421C AK056182_uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA. 421 protein binding p.R421C(2) NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CACAGCAAGCGATCTGCAAGT 0.488000 92 40 0 0 0.007835 0 0 DDX43 55510 broad.mit.edu 37 6 74115538 74115538 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:74115538C>T uc003pgw.3 + 5 1131 c.787C>T c.(787-789)Caa>Taa p.Q263* DDX43_uc011dyn.1_Non-coding_Transcript NM_018665 NP_061135 Q9NXZ2 DDX43_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA. 263 intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 GGCAGGTTTTCAAAAGCCAAC 0.388000 22 18 0 0 0.001523 0 0 CCDC92 80212 broad.mit.edu 37 12 124421944 124421944 + Missense_Mutation SNP T G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:124421944T>G uc001ufw.1 - 4 804 c.657A>C c.(655-657)gaA>gaC p.E219D CCDC92_uc001ufv.1_Missense_Mutation_p.E202D|CCDC92_uc001ufx.1_Missense_Mutation_p.E219D NM_025140 NP_079416 Q53HC0 CCD92_HUMAN Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA. 219 large_intestine(5)|lung(2) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242) TGTAGACCTCTTCAAATTCCG 0.597000 73 36 0 0 0.003755 0 0 HPCAL1 3241 broad.mit.edu 37 2 10560075 10560075 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:10560075C>T uc002raj.3 + 2 566 c.192C>T c.(190-192)ttC>ttT p.F64F HPCAL1_uc002ral.3_Silent_p.F64F|HPCAL1_uc010exe.3_Non-coding_Transcript|HPCAL1_uc010exf.3_Silent_p.F64F NM_002149 NP_602293 P37235 HPCL1_HUMAN Homo sapiens hippocalcin-like 1 (HPCAL1), transcript variant 1, mRNA. 64 EF-hand 2. calcium ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.214) CTTCCAAGTTCGCCGAGCACG 0.617000 31 18 0 0 0.006122 0 0 OR4C3 256144 broad.mit.edu 37 11 48346903 48346903 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:48346903C>T uc010rhv.2 + 0 411 c.411C>T c.(409-411)atC>atT p.I137I NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA. 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 GTGTTGAGATCATTCTGCTCA 0.478000 209 17 0 0 0.003755 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269487 150269487 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:150269487C>T uc003whl.3 + 2 411 c.329C>T c.(328-330)aCc>aTc p.T110I GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Missense_Mutation_p.T124I NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA. 110 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ATTCTTCTGACCTCCCCAGGG 0.502000 72 23 0 0 0.004656 0 0 KIF26A 26153 broad.mit.edu 37 14 104639320 104639320 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:104639320C>T uc001yos.4 + 7 1427 c.1427C>T c.(1426-1428)tCg>tTg p.S476L NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN Homo sapiens kinesin family member 26A (KIF26A), mRNA. 476 Kinesin-motor. blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) CCAGGCAAGTCGTACACCATG 0.667000 11 11 0 0 0.008291 0 0 ANKRD17 26057 broad.mit.edu 37 4 73957500 73957500 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:73957500G>A uc003hgp.3 - 28 5962 c.5845C>T c.(5845-5847)Cat>Tat p.H1949Y ANKRD17_uc003hgo.3_Missense_Mutation_p.H1836Y|ANKRD17_uc003hgq.3_Missense_Mutation_p.H1698Y|ANKRD17_uc003hgr.3_Missense_Mutation_p.H1948Y NM_032217 NP_115593 O75179 ANR17_HUMAN Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA. 1949 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGATTGCTATGGCGAGGCACC 0.507000 126 60 0 0 0.003610 0 0 SLC22A18 5002 broad.mit.edu 37 11 2924639 2924639 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:2924639C>T uc001lwx.3 + 1 282 c.64C>T c.(64-66)Cgg>Tgg p.R22W SLC22A18AS_uc001lwv.4_Intron|SLC22A18AS_uc001lww.4_Intron|SLC22A18_uc001lwy.3_Missense_Mutation_p.R22W NM_183233 NP_899056 Q96BI1 S22AI_HUMAN Homo sapiens solute carrier family 22, member 18 (SLC22A18), transcript variant 2, mRNA. 22 excretion|organic cation transport apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192) CGCTCTAGGCCGGTCCTCGGT 0.642000 428 88 0 0 0.003610 0 0 C15orf27 123591 broad.mit.edu 37 15 76496435 76496435 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr15:76496435G>A uc002bbq.3 + 10 1530 c.1375G>A c.(1375-1377)Gac>Aac p.D459N C15orf27_uc010bkp.3_Missense_Mutation_p.D275N|C15orf27_uc002bbr.3_Missense_Mutation_p.D275N|C15orf27_uc002bbs.3_Missense_Mutation_p.D137N NM_152335 NP_689548 Q2M3C6 CO027_HUMAN Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA. 459 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 GAAGGCCTTGGACCCAGCCCC 0.687000 72 17 0 0 0.004007 0 0 PMFBP1 83449 broad.mit.edu 37 16 72184519 72184519 + Silent SNP C T T rs146909225 byFrequency TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:72184519C>T uc002fcc.4 - 4 796 c.624G>A c.(622-624)ggG>ggA p.G208G PMFBP1_uc002fcd.3_Silent_p.G208G|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Silent_p.G63G NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. 208 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) GACCCATGATCCCGCCGAGTT 0.527000 143 70 0 0 0.003610 0 0 NALCN 259232 broad.mit.edu 37 13 101844285 101844285 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr13:101844285G>A uc001vox.1 - 13 1936 c.1747C>T c.(1747-1749)Cat>Tat p.H583Y NALCN_uc001voy.3_Missense_Mutation_p.H298Y|NALCN_uc001voz.2_Missense_Mutation_p.H583Y|NALCN_uc001vpa.2_Missense_Mutation_p.H583Y NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN Homo sapiens sodium leak channel, non-selective (NALCN), mRNA. 583 integral to membrane sodium channel activity|voltage-gated ion channel activity p.H583N(2) NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCAAAAAGATGATAGAGAATG 0.403000 19 9 0 0 0.004482 0 0 ASB5 140458 broad.mit.edu 37 4 177143536 177143536 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:177143536G>A uc003iuq.2 - 2 426 c.312C>T c.(310-312)gtC>gtT p.V104V ASB5_uc003iup.2_Silent_p.V51V NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA. 104 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) GCAATGGGGTGACATGGTCTA 0.388000 71 27 0 0 0.001786 0 0 NLRP4 147945 broad.mit.edu 37 19 56369277 56369277 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:56369277C>T uc002qmd.4 + 2 940 c.518C>T c.(517-519)tCg>tTg p.S173L NLRP4_uc002qmf.3_Missense_Mutation_p.S98L|NLRP4_uc010etf.3_Missense_Mutation_p.S4L NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 173 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ATGGCCTGGTCGGACAACAAG 0.498000 62 53 0 0 0.003610 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42132422 42132422 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr15:42132422G>A uc001zoo.4 + 6 809 c.769G>A c.(769-771)Gac>Aac p.D257N JMJD7-PLA2G4B_uc001zon.2_3'UTR|JMJD7-PLA2G4B_uc010bcn.3_Missense_Mutation_p.D257N|JMJD7-PLA2G4B_uc001zoq.4_5'UTR|JMJD7-PLA2G4B_uc010bco.3_Missense_Mutation_p.D26N|JMJD7-PLA2G4B_uc001zor.1_5'Flank NM_005090 NP_005081 P0C869 PA24B_HUMAN Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA. 26 PLA2c. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 ACCCTCTAAGGACCTAGGTGA 0.667000 62 18 0 0 0.006122 0 0 CSMD1 64478 broad.mit.edu 37 8 2855685 2855685 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:2855685C>T uc022aqr.1 - 53 8615 c.8225G>A c.(8224-8226)gGa>gAa p.G2742E CSMD1_uc011kwj.2_Missense_Mutation_p.G2072E|CSMD1_uc010lrg.3_Missense_Mutation_p.G753E NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 2743 Sushi 19. 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) GGCAGGGTTTCCAGGGTGACC 0.458000 98 47 0 0 0.003610 0 0 SLC22A4 6583 broad.mit.edu 37 5 131662987 131662987 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:131662987C>T uc003kwq.3 + 4 1007 c.842C>T c.(841-843)cCc>cTc p.P281L SLC22A4_uc010jdq.1_Non-coding_Transcript|LOC553103_uc021ydj.1_Intron NM_003059 NP_003050 Q9H015 S22A4_HUMAN Homo sapiens solute carrier family 22 (organic cation/ergothioneine transporter), member 4 (SLC22A4), mRNA. 281 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|PDZ domain binding|carnitine transporter activity|cation:cation antiporter activity|secondary active organic cation transmembrane transporter activity|symporter activity endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) CCTGAATCTCCCCGATGGCTG 0.348000 7 6 0 0 0.001168 0 0 SAMD7 344658 broad.mit.edu 37 3 169646316 169646316 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:169646316G>A uc003fgd.3 + 6 1258 c.991G>A c.(991-993)Gat>Aat p.D331N SAMD7_uc003fge.3_Missense_Mutation_p.D331N|SAMD7_uc011bpo.2_Missense_Mutation_p.D232N NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA. 331 SAM. NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) GACCGTGGATGATGTGCACAG 0.388000 102 35 0 0 0.004878 0 0 SLC25A23 79085 broad.mit.edu 37 19 6454590 6454590 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:6454590G>A uc002mex.1 - 4 764 c.622C>T c.(622-624)Cgc>Tgc p.R208C SLC25A23_uc002mev.3_Non-coding_Transcript|SLC25A23_uc010xjd.1_Missense_Mutation_p.R25C NM_024103 NP_077008 Q9BV35 SCMC3_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 (SLC25A23), nuclear gene encoding mitochondrial protein, mRNA. 208 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1) 17 ACCTTGAGGCGGTCCAGAGGG 0.642000 16 27 0 0 0.005443 0 0 OVOL2 58495 broad.mit.edu 37 20 18022217 18022217 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr20:18022217C>T uc002wqi.1 - 2 715 c.472G>A c.(472-474)Gac>Aac p.D158N NM_021220 NP_067043 Q9BRP0 OVOL2_HUMAN Homo sapiens ovo-like 2 (Drosophila) (OVOL2), mRNA. 158 negative regulation of Notch signaling pathway|negative regulation of keratinocyte differentiation|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent nucleus DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3) 6 TCGAAGGTGTCGTTGAAGCCC 0.562000 41 15 0 0 0.003163 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634820 70634820 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:70634820G>A uc001xly.3 - 1 1074 c.320C>T c.(319-321)tCt>tTt p.S107F SLC8A3_uc001xlw.3_Missense_Mutation_p.S107F|SLC8A3_uc001xlx.3_Missense_Mutation_p.S107F|SLC8A3_uc001xlz.3_Missense_Mutation_p.S107F|SLC8A3_uc010ara.3_Non-coding_Transcript NM_183002 NP_892114 P57103 NAC3_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA. 107 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CCTCTCTTGAGAGGTGATGAC 0.473000 36 18 0 0 0.006122 0 0 PLEKHA1 59338 broad.mit.edu 37 10 124189307 124189307 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:124189307C>T uc001lge.2 + 11 1317 c.1068C>T c.(1066-1068)ttC>ttT p.F356F PLEKHA1_uc001lgf.2_3'UTR|PLEKHA1_uc001lgg.2_Silent_p.F356F|PLEKHA1_uc021qae.1_5'Flank NM_001001974 NP_067635 Q9HB21 PKHA1_HUMAN Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 (PLEKHA1), transcript variant 2, mRNA. 356 B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization cytoplasm|nucleus|ruffle membrane PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CAGGGAACTTCAAGGTCCAGA 0.473000 60 17 0 0 0.006122 0 0 SLC24A3 57419 broad.mit.edu 37 20 19698204 19698204 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr20:19698204C>T uc002wrl.3 + 15 1949 c.1752C>T c.(1750-1752)tcC>tcT p.S584S NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA. 584 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TGATCTACTCCGTAGGCTTGC 0.507000 265 103 0 0 0.003610 0 0 NUAK2 81788 broad.mit.edu 37 1 205272896 205272896 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:205272896G>A uc001hce.3 - 6 1696 c.1569C>T c.(1567-1569)tcC>tcT p.S523S NM_030952 NP_112214 Q9H093 NUAK2_HUMAN Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA. 523 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) GTTCATCCAGGGAGCCGAAGG 0.642000 83 29 0 0 0.002096 0 0 GPR63 81491 broad.mit.edu 37 6 97247595 97247595 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:97247595C>T uc010kcl.3 - 2 491 c.13G>A c.(13-15)Gca>Aca p.A5T GPR63_uc003pou.3_Missense_Mutation_p.A5T|GPR63_uc021zcy.1_Missense_Mutation_p.A5T NM_001143957 NP_001137429 Q9BZJ6 GPR63_HUMAN Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA. 5 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) GTCAACACTGCCGAGAAGACC 0.463000 41 23 0 0 0.002780 0 0 LRRC66 339977 broad.mit.edu 37 4 52861191 52861191 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:52861191G>A uc003gzi.3 - 3 2004 c.1997C>T c.(1996-1998)cCa>cTa p.P666L NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA. 666 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 AAAGACTGATGGGCCTGTGTC 0.557000 73 24 0 0 0.003330 0 0 ABCC4 10257 broad.mit.edu 37 13 95725490 95725490 + Missense_Mutation SNP A C C TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr13:95725490A>C uc001vmd.4 - 23 3105 c.2986T>G c.(2986-2988)Tgt>Ggt p.C996G ABCC4_uc010afk.3_Missense_Mutation_p.C949G NM_005845 NP_005836 O15439 MRP4_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA. 996 ABC transmembrane type-1 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TGTCGAACACACCACTGAAAC 0.448000 36 13 0 0 0.003163 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37442579 37442579 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:37442579G>A uc021ppc.1 + 12 1718 c.1619G>A c.(1618-1620)gGa>gAa p.G540E ANKRD30A_uc001iza.1_Missense_Mutation_p.G540E NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 596 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAAATAAATGGAAAATTAGAA 0.323000 164 21 0 0 0.001523 0 0 RIT2 6014 broad.mit.edu 37 18 40613800 40613800 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr18:40613800G>A uc002lav.3 - 1 309 c.136C>T c.(136-138)Cct>Tct p.P46S RIT2_uc010dnf.3_Missense_Mutation_p.P46S NM_002930 NP_002921 Q99578 RIT2_HUMAN Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA. 46 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane GTP binding|GTPase activity|calmodulin binding endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TGATAATCAGGGAACTGATGA 0.318000 29 14 0 0 0.003163 0 0 COL14A1 7373 broad.mit.edu 37 8 121259858 121259858 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:121259858C>T uc003yox.3 + 20 2751 c.2486C>T c.(2485-2487)tCc>tTc p.S829F COL14A1_uc003yoy.3_Missense_Mutation_p.S507F NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 829 Fibronectin type-III 7. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging p.S829S(1) NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TCAGTACCATCCTCGGGGCCC 0.473000 34 21 0 0 0.002299 0 0 KIAA1967 57805 broad.mit.edu 37 8 22470634 22470634 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:22470634C>T uc003xch.3 + 7 938 c.689C>T c.(688-690)cCt>cTt p.P230L KIAA1967_uc003xci.3_Missense_Mutation_p.P230L|KIAA1967_uc003xcj.1_5'UTR NM_021174 NP_066997 Q8N163 K1967_HUMAN Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA. 230 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5) 25 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) CACCTCACTCCTTACACTGTG 0.542000 40 17 0 0 0.004007 0 0 EHBP1 23301 broad.mit.edu 37 2 63220725 63220725 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:63220725C>T uc002sby.3 + 18 3489 c.3007C>T c.(3007-3009)Cct>Tct p.P1003S EHBP1_uc010fcp.3_Missense_Mutation_p.P932S|EHBP1_uc002sbz.3_Missense_Mutation_p.P932S|EHBP1_uc002scb.3_Missense_Mutation_p.P968S NM_015252 NP_056067 Q8NDI1 EHBP1_HUMAN Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA. 1003 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) TTTTAGAAATCCTGTTGTGTT 0.368000 38 17 0 0 0.004990 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33881255 33881255 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:33881255C>T uc003jia.1 - 1 621 c.458G>A c.(457-459)gGg>gAg p.G153E ADAMTS12_uc010iuq.1_Missense_Mutation_p.G153E|ADAMTS12_uc003jib.1_Missense_Mutation_p.G153E NM_030955 NP_112217 P58397 ATS12_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA. 153 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 GGCTGCCGTCCCAACTCTGGT 0.587000 HNSCC(64;0.19) 58 10 0 0 0.000978 0 0 PPARG 5468 broad.mit.edu 37 3 12421306 12421306 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:12421306C>T uc003bwx.3 + 1 277 c.186C>T c.(184-186)atC>atT p.I62I PPARG_uc003bwr.3_Silent_p.I34I|PPARG_uc003bws.3_Silent_p.I34I|PPARG_uc003bwu.3_Silent_p.I34I|PPARG_uc003bwv.3_Silent_p.I34I|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc010hdz.1_Non-coding_Transcript|PPARG_uc003bwt.1_Silent_p.I34I|PPARG_uc003bww.1_Silent_p.I62I NM_015869 NP_619726 P37231 PPARG_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA. 62 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) CCTTTGATATCAAGCCCTTCA 0.468000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 555 209 0 0 0.003610 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65715016 65715016 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:65715016G>A uc001ogk.1 + 3 749 c.717G>A c.(715-717)agG>agA p.R239R TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron NM_152762 NP_689975 Q3SY00 T10IP_HUMAN Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA. 240 endometrium(2)|kidney(3)|lung(9) 14 GCCCCAGGAGGGGGTCGATCT 0.632000 90 10 0 0 0.001368 0 0 RUNX1T1 862 broad.mit.edu 37 8 92972609 92972609 + Missense_Mutation SNP T A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:92972609T>A uc022axs.1 - 11 2040 c.1853A>T c.(1852-1854)cAg>cTg p.Q618L RUNX1T1_uc003yfc.2_Missense_Mutation_p.Q532L|RUNX1T1_uc010mam.3_Missense_Mutation_p.Q532L|RUNX1T1_uc003yfe.2_Missense_Mutation_p.Q522L|RUNX1T1_uc003yfd.3_Missense_Mutation_p.Q559L|RUNX1T1_uc022axo.1_Missense_Mutation_p.Q559L|RUNX1T1_uc010mao.3_Missense_Mutation_p.Q532L|RUNX1T1_uc011lgi.2_Missense_Mutation_p.Q570L|RUNX1T1_uc022axp.1_Missense_Mutation_p.Q559L|RUNX1T1_uc022axq.1_Missense_Mutation_p.Q559L|RUNX1T1_uc022axr.1_Missense_Mutation_p.Q559L|RUNX1T1_uc022axt.1_Missense_Mutation_p.Q559L|RUNX1T1_uc022axu.1_Missense_Mutation_p.Q539L|RUNX1T1_uc022axv.1_Missense_Mutation_p.Q559L|RUNX1T1_uc010man.2_Missense_Mutation_p.Q184L|RUNX1T1_uc003yfb.2_Missense_Mutation_p.Q522L NM_001198679 NP_001185608 Q06455 MTG8_HUMAN Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA. 559 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) GTCTCCCTGCTGCTGGGCCTG 0.607000 38 13 0 0 0.001368 0 0 PSG4 5672 broad.mit.edu 37 19 43708061 43708061 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:43708061C>T uc002ovy.3 - 1 509 c.407G>A c.(406-408)gGa>gAa p.G136E PSG4_uc002ovz.3_Missense_Mutation_p.G136E|PSG4_uc002owb.3_Missense_Mutation_p.G136E NM_002780 NP_002771 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA. 136 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) GGTGAAATGTCCAGTTACTCC 0.522000 106 75 0 0 0.003610 0 0 PDGFRB 5159 broad.mit.edu 37 5 149495377 149495377 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:149495377C>T uc003lro.3 - 22 3739 c.3270G>A c.(3268-3270)ccG>ccA p.P1090P CSF1R_uc003lrm.3_5'Flank|PDGFRB_uc003lrn.1_5'Flank|PDGFRB_uc010jhd.3_Silent_p.P929P NM_002609 NP_002600 P09619 PGFRB_HUMAN Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA. 1090 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity p.P1090P(2) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) ACCCCGAATCCGGCAACTGTT 0.682000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 31 13 0 0 0.003163 0 0 KIDINS220 57498 broad.mit.edu 37 2 8871371 8871371 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:8871371G>A uc002qzc.2 - 29 4977 c.4795C>T c.(4795-4797)Ctg>Ttg p.L1599L KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Silent_p.L1500L|KIDINS220_uc002qzb.2_Silent_p.L453L NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA. 1599 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane p.L1599L(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TCATTGTGCAGAGAGTGATTG 0.468000 43 21 0 0 0.001523 0 0 KIAA0100 9703 broad.mit.edu 37 17 26943163 26943163 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:26943163G>A uc002hbu.3 - 36 6444 c.6341C>T c.(6340-6342)tCc>tTc p.S2114F SPAG5_uc010waq.1_5'Flank|SPAG5-AS1_uc021tts.1_Intron|SPAG5_uc010war.1_5'Flank|SPAG5_uc010crq.2_5'Flank|SPAG5_uc021ttt.1_5'Flank NM_014680 NP_055495 Q14667 K0100_HUMAN Homo sapiens KIAA0100 (KIAA0100), mRNA. 2114 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) GTAGATGAAGGAGTTGTTCAT 0.478000 49 17 0 0 0.006122 0 0 OTUD7B 56957 broad.mit.edu 37 1 149916096 149916096 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:149916096G>A uc001etn.3 - 11 2548 c.2192C>T c.(2191-2193)cCc>cTc p.P731L NM_020205 NP_064590 Q6GQQ9 OTU7B_HUMAN Homo sapiens OTU domain containing 7B (OTUD7B), mRNA. 731 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) GCACTGTCTGGGGAAGGTGGC 0.657000 49 24 0 0 0.004656 0 0 OBSL1 23363 broad.mit.edu 37 2 220432081 220432081 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:220432081G>A uc010fwk.3 - 3 2065 c.1751C>T c.(1750-1752)tCc>tTc p.S584F OBSL1_uc010fwl.2_Missense_Mutation_p.S584F|OBSL1_uc002vmi.3_Missense_Mutation_p.S584F NM_015311 NP_056126 O75147 OBSL1_HUMAN Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA. 584 Fibronectin type-III. cardiac myofibril assembly M band|Z disc|intercalated disc|perinuclear region of cytoplasm cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GTCACCCTCGGAGGGCACACA 0.622000 21 8 0 0 0.004482 0 0 CD300LG 146894 broad.mit.edu 37 17 41926251 41926251 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:41926251C>T uc002iem.3 + 1 438 c.369C>T c.(367-369)ttC>ttT p.F123F CD300LG_uc002iel.2_Silent_p.F123F|CD300LG_uc010czk.3_Silent_p.F123F|CD300LG_uc010wil.2_Silent_p.F123F|CD300LG_uc010czl.3_Silent_p.F123F NM_145273 NP_660316 Q6UXG3 CLM9_HUMAN Homo sapiens CD300 molecule-like family member g (CD300LG), transcript variant 1, mRNA. 123 apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) TCTCTCTGTTCGTCTTTCCAG 0.557000 45 21 0 0 0.001523 0 0 WSCD2 9671 broad.mit.edu 37 12 108589750 108589750 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:108589750G>A uc001tms.3 + 1 885 c.141G>A c.(139-141)ggG>ggA p.G47G WSCD2_uc001tmt.3_Silent_p.G47G NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN Homo sapiens WSC domain containing 2 (WSCD2), mRNA. 47 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 CTGTCTCGGGGAACCAGGCGA 0.612000 168 56 0 0 0.003610 0 0 MAP3K9 4293 broad.mit.edu 37 14 71199523 71199523 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:71199523C>T uc001xmm.3 - 10 2563 c.2563G>A c.(2563-2565)Gat>Aat p.D855N MAP3K9_uc010ttk.2_Missense_Mutation_p.D583N|MAP3K9_uc001xmk.3_Missense_Mutation_p.D588N|MAP3K9_uc001xml.3_Missense_Mutation_p.D869N NM_033141 NP_149132 P80192 M3K9_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA. 855 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) ACAATTTCATCGCTGTCGGAG 0.602000 42 21 0 0 0.001523 0 0 C15orf44 81556 broad.mit.edu 37 15 65892154 65892154 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr15:65892154G>A uc010uix.2 - 3 940 c.552C>T c.(550-552)ttC>ttT p.F184F C15orf44_uc002apd.3_Silent_p.F148F|C15orf44_uc010uja.2_Silent_p.F131F|C15orf44_uc010ujb.2_Silent_p.F91F|C15orf44_uc002ape.4_Silent_p.F148F|C15orf44_uc010uiy.2_Silent_p.F69F|C15orf44_uc010uiz.2_Silent_p.F112F|C15orf44_uc010ujc.2_Silent_p.F180F Q96SY0 CO044_HUMAN Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA. 148 VWFA. breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2) 12 ACTTAGATGGGAAAGGAAAAG 0.408000 61 30 0 0 0.002445 0 0 SPRY1 10252 broad.mit.edu 37 4 124323479 124323479 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:124323479C>T uc003ifa.3 + 1 920 c.733C>T c.(733-735)Cct>Tct p.P245S SPRY1_uc003ifb.3_Missense_Mutation_p.P245S|SPRY1_uc021xro.1_Missense_Mutation_p.P245S NM_199327 NP_955359 O43609 SPY1_HUMAN Homo sapiens sprouty homolog 1, antagonist of FGF signaling (Drosophila) (SPRY1), transcript variant 2, mRNA. 245 Cys-rich.|SPR. epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytosol|lamellipodium|plasma membrane NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3) 11 TTCAGATAATCCTTGCTCCTG 0.458000 116 58 0 0 0.003610 0 0 OR10A3 26496 broad.mit.edu 37 11 7960551 7960551 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:7960551C>T uc010rbi.2 - 0 517 c.517G>A c.(517-519)Gaa>Aaa p.E173K NM_001003745 NP_001003745 P58181 O10A3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA. 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGATTAATTTCATTGGGGCCA 0.413000 38 10 0 0 0.001368 0 0 GPR179 440435 broad.mit.edu 37 17 36499539 36499539 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:36499539C>T uc002hpz.3 - 0 155 c.134G>A c.(133-135)gGa>gAa p.G45E NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA. 45 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GGGTACAGATCCTGGCTTGAC 0.622000 79 9 0 0 0.008291 0 0 SLC40A1 30061 broad.mit.edu 37 2 190444572 190444572 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:190444572G>A uc002uqp.4 - 1 429 c.78C>T c.(76-78)ttC>ttT p.F26F SLC40A1_uc002uqr.1_Non-coding_Transcript|SLC40A1_uc002uqs.1_Non-coding_Transcript|SLC40A1_uc002uqq.2_Silent_p.F26F|SLC40A1_uc010zfx.1_Non-coding_Transcript NM_014585 NP_055400 Q9NP59 S40A1_HUMAN Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA. 26 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) GGTAGAGAAGGAATTTTGCAG 0.458000 41 20 0 0 0.001882 0 0 MECOM 2122 broad.mit.edu 37 3 168834494 168834494 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:168834494G>A uc011bpj.1 - 7 1569 c.1166C>T c.(1165-1167)tCa>tTa p.S389L MECOM_uc010hwk.1_Missense_Mutation_p.S224L|MECOM_uc003ffj.3_Missense_Mutation_p.S266L|MECOM_uc003ffi.3_Missense_Mutation_p.S201L|MECOM_uc011bpi.1_Missense_Mutation_p.S202L|MECOM_uc003ffn.3_Missense_Mutation_p.S201L|MECOM_uc003ffk.2_Missense_Mutation_p.S201L|MECOM_uc003ffl.2_Missense_Mutation_p.S361L|MECOM_uc011bpk.1_Missense_Mutation_p.S201L|MECOM_uc010hwn.2_Missense_Mutation_p.S389L NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 GCAAAGGTTTGAAAACTGAGT 0.388000 54 35 0 0 0.004878 0 0 CAMKV 79012 broad.mit.edu 37 3 49897086 49897086 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:49897086C>T uc003cxt.1 - 10 1364 c.1171G>A c.(1171-1173)Gat>Aat p.D391N CAMKV_uc011bcy.1_Missense_Mutation_p.D316N|CAMKV_uc003cxv.1_Missense_Mutation_p.D363N|CAMKV_uc003cxw.1_Missense_Mutation_p.D223N|CAMKV_uc003cxx.1_Missense_Mutation_p.D223N|CAMKV_uc003cxu.2_Missense_Mutation_p.D360N|CAMKV_uc011bcz.1_Missense_Mutation_p.D323N|CAMKV_uc011bda.1_Missense_Mutation_p.D317N NM_024046 NP_076951 Q8NCB2 CAMKV_HUMAN Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA. 391 Ala-rich. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GCACTTCCATCTGTGGCTGGG 0.617000 158 79 0 0 0.003610 0 0 CXADR 1525 broad.mit.edu 37 21 18933732 18933732 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr21:18933732C>T uc002yki.3 + 5 995 c.771C>T c.(769-771)atC>atT p.I257I CXADR_uc002ykh.2_Intron|CXADR_uc010gld.2_Intron|CXADR_uc010gle.2_Intron|CXADR_uc021whp.1_Silent_p.I216I|CXADR_uc002ykj.2_Silent_p.I257I NM_001338 NP_001329 P78310 CXAR_HUMAN Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA. 257 blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction receptor activity endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2) 11 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) GTCTTATCATCTTTTGCTGTC 0.358000 23 10 0 0 0.008291 0 0 TTLL2 83887 broad.mit.edu 37 6 167754237 167754237 + Missense_Mutation SNP A T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:167754237A>T uc003qvs.1 + 2 937 c.849A>T c.(847-849)gaA>gaT p.E283D NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA. 283 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TTGCCACGGAAAAGTTTGACC 0.403000 102 67 0 0 0.003610 0 0 PRAM1 84106 broad.mit.edu 37 19 8563167 8563167 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:8563167C>T uc002mkd.3 - 2 1502 c.1439G>A c.(1438-1440)cGg>cAg p.R480Q NM_032152 NP_115528 Q96QH2 PRAM_HUMAN Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA. 528 Pro-rich. lipid binding|protein binding p.R480R(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 GCGGGTCCTCCGTAGATCTGT 0.677000 14 15 0 0 0.007413 0 0 ENTHD1 150350 broad.mit.edu 37 22 40161320 40161320 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr22:40161320C>T uc003ayg.3 - 5 1378 c.1127G>A c.(1126-1128)cGa>cAa p.R376Q NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA. 376 breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) CTCCTTCACTCGGTCAAATAT 0.443000 60 34 0 0 0.002836 0 0 AGTR1 185 broad.mit.edu 37 3 148459199 148459199 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:148459199G>A uc003ewg.3 + 3 823 c.377G>A c.(376-378)cGa>cAa p.R126Q AGTR1_uc003ewh.3_Missense_Mutation_p.R126Q|AGTR1_uc003ewi.3_Missense_Mutation_p.R126Q|AGTR1_uc003ewj.3_Missense_Mutation_p.R126Q|AGTR1_uc003ewk.3_Missense_Mutation_p.R126Q|AGTR1_uc021xfj.1_Missense_Mutation_p.R126Q NM_031850 NP_114438 P30556 AGTR1_HUMAN Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA. 126 Rho protein signal transduction|calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of NAD(P)H oxidase activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) AGCATTGATCGATACCTGGCT 0.507000 145 24 0 0 0.003330 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974679 21974679 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr9:21974679G>A uc003zpk.3 - 0 454 c.148C>T c.(148-150)Cag>Tag p.Q50* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_Nonsense_Mutation_p.Q50*|CDKN2A_uc010miu.3_Nonsense_Mutation_p.Q50*|CDKN2A_uc003zpl.3_Intron NM_000077 NP_000068 P42771 CD2A1_HUMAN Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA. 50 Q -> R (in CMM2). G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence cytosol|nucleus NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding p.0?(1315)|p.?(25)|p.Q50*(11)|p.I49M(2)|p.V28_V51del(2)|p.0(1)|p.I49S(1)|p.Q50R(1)|p.I49T(1)|p.I49I(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CTACCCACCTGGATCGGCCTC 0.682000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 244 227 0 0 0.003610 0 0 PPP2R5C 5527 broad.mit.edu 37 14 102368210 102368210 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:102368210C>T uc001yko.3 + 8 1147 c.1007C>T c.(1006-1008)tCc>tTc p.S336F PPP2R5C_uc010txr.2_Missense_Mutation_p.S367F|PPP2R5C_uc001ykk.3_Missense_Mutation_p.S391F|PPP2R5C_uc010txt.2_Missense_Mutation_p.S326F|PPP2R5C_uc001ykn.3_Missense_Mutation_p.S336F|PPP2R5C_uc001ykp.3_Missense_Mutation_p.S336F|PPP2R5C_uc001ykq.3_Missense_Mutation_p.S234F NM_002719 NP_002710 Q13362 2A5G_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA. 336 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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 AAATGTGTCTCCAGCCCACAC 0.448000 67 37 0 0 0.005524 0 0 DNAH7 56171 broad.mit.edu 37 2 196913019 196913020 + Splice_Site DNP CC TA TA TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:196913019_196913020CC>TA uc002utj.4 - 4 351 c.250_splice c.e4+1 p.A84_splice NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 84 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GAAGTTCTTACCATGGGACTGT 0.361000 58 17 0 0 0.004672 0 0 DPY19L4 286148 broad.mit.edu 37 8 95782750 95782750 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:95782750C>T uc003ygx.2 + 12 1529 c.1405C>T c.(1405-1407)Cat>Tat p.H469Y NM_181787 NP_861452 Q7Z388 D19L4_HUMAN Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA. 469 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) AATAATTTATCATGTAATTCA 0.323000 283 100 0 0 0.003610 0 0 IFT57 55081 broad.mit.edu 37 3 107885736 107885736 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:107885736G>A uc021xcc.1 - 7 1092 c.1039C>T c.(1039-1041)Caa>Taa p.Q347* IFT57_uc003dwx.4_Nonsense_Mutation_p.Q316* NM_018010 NP_060480 Q9NWB7 IFT57_HUMAN Homo sapiens intraflagellar transport 57 homolog (Chlamydomonas) (IFT57), mRNA. 316 pDED. activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cilium|microtubule basal body DNA binding|protein binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 14 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) CGATATTCTTGAACCAAATTC 0.378000 36 20 0 0 0.001523 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68939691 68939691 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:68939691G>A uc003hdt.1 - 3 368 c.319C>T c.(319-321)Cga>Tga p.R107* LOC550112_uc003hdl.4_Intron NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA. 107 SEA. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 TTGATAAATCGACCGCCTACA 0.249000 18 4 0 0 0.003080 0 0 COL4A1 1282 broad.mit.edu 37 13 110814731 110814731 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr13:110814731G>A uc001vqw.4 - 47 4430 c.4308C>T c.(4306-4308)ccC>ccT p.P1436P NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 1436 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) GGGTGCCTGGGGGCCCCATGG 0.512000 130 46 0 0 0.003610 0 0 EYA1 2138 broad.mit.edu 37 8 72229866 72229866 + Silent SNP T A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:72229866T>A uc003xyu.3 - 6 1117 c.477A>T c.(475-477)ggA>ggT p.G159G EYA1_uc003xyt.4_Silent_p.G126G|EYA1_uc003xyr.4_Silent_p.G154G|EYA1_uc010lzf.3_Silent_p.G86G|EYA1_uc003xys.4_Silent_p.G159G|EYA1_uc011lfe.2_Silent_p.G153G|EYA1_uc003xyv.3_Silent_p.G37G NM_000503 NP_742055 Q99502 EYA1_HUMAN Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA. 159 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) ATCCTGTCTGTCCAGGTGACT 0.458000 148 52 0 0 0.003610 0 0 KCNRG 283518 broad.mit.edu 37 13 50589901 50589901 + Missense_Mutation SNP T G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr13:50589901T>G uc001vdu.3 + 0 512 c.272T>G c.(271-273)cTt>cGt p.L91R DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_Missense_Mutation_p.L91R|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR NM_173605 NP_775876 Q8N5I3 KCNRG_HUMAN Homo sapiens potassium channel regulator (KCNRG), transcript variant 1, mRNA. 91 BTB. voltage-gated potassium channel complex identical protein binding|voltage-gated potassium channel activity haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3) 9 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204) TTCTATGAACTTCGTTCTCTA 0.403000 129 39 0 0 0.006999 0 0 MAP2K3 5606 broad.mit.edu 37 17 21215489 21215489 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:21215489C>T uc002gys.3 + 9 1075 c.810C>T c.(808-810)tcC>tcT p.S270S MAP2K3_uc002gyt.3_Silent_p.S241S|MAP2K3_uc021tsq.1_Silent_p.S241S|MAP2K3_uc021tsr.1_Silent_p.S241S NM_145109 NP_002747 P46734 MP2K3_HUMAN Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA. 270 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|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 kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) CTTACGAGTCCTGGGGGACCC 0.657000 39 15 0 0 0.002450 0 0 GPX6 257202 broad.mit.edu 37 6 28472256 28472256 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:28472256G>A uc021yrx.1 - 4 529 c.479C>T c.(478-480)tCt>tTt p.S160F GPX6_uc010jrg.1_Non-coding_Transcript NM_182701 NP_874360 P59796 GPX6_HUMAN Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA. 160 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) CAAAAGATCAGAGGTCGGAGG 0.448000 47 33 0 0 0.002836 0 0 DNAH3 55567 broad.mit.edu 37 16 21136654 21136656 + Missense_Mutation DNP TC GT GT TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:21136654_21136656TC>GT uc010vbe.2 - 8 1244_1246 c.1244_1246GA>AC c.(1243-1248)cggaag>cACag p.415_416RK>H DNAH3_uc002die.2_Missense_Mutation_p.386_387RK>H NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 415 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CAGTGCTCCTTCCGTGAGGTAAA 0.507000 92 12 0 0 0.004672 0 0 C16orf62 57020 broad.mit.edu 37 16 19580782 19580782 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:19580782G>A uc002dgn.2 + 2 469 c.154G>A c.(154-156)Gga>Aga p.G52R C16orf62_uc002dgo.2_Missense_Mutation_p.G141R|C16orf62_uc010vas.2_Non-coding_Transcript|C16orf62_uc002dgm.2_Missense_Mutation_p.G141R NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA. 52 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 GAACCGGAAAGGAAGCACTTC 0.542000 45 33 0 0 0.003271 0 0 NBPF14 25832 broad.mit.edu 37 1 148017601 148017601 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:148017601G>A uc001eqq.3 - 5 714 c.682C>T c.(682-684)Ctc>Ttc p.L228F NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Missense_Mutation_p.L568F|NBPF14_uc001eqg.3_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Intron|NBPF14_uc021owc.1_Intron|NBPF14_uc021owe.1_Missense_Mutation_p.L107F|NBPF14_uc021owf.1_Intron|NBPF14_uc021owg.1_Intron|NBPF14_uc021owh.1_Intron|NBPF14_uc009wkf.1_Non-coding_Transcript|NBPF14_uc021owd.1_Missense_Mutation_p.L107F NM_015383 NP_056198 Q5TI25 NBPFE_HUMAN Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA. 228 NBPF 2. cytoplasm NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) GGAATTGAGAGAGTCGAATAA 0.498000 434 51 0 0 0.003610 0 0 DNAH3 55567 broad.mit.edu 37 16 21063184 21063184 + Missense_Mutation SNP C T T rs143443640 by1000genomes TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:21063184C>T uc010vbe.2 - 28 4045 c.4045G>A c.(4045-4047)Gac>Aac p.D1349N NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 1349 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GCCACCACGTCGCGGGCTGTT 0.517000 80 41 0 0 0.007835 0 0 OR4C6 219432 broad.mit.edu 37 11 55433515 55433515 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:55433515G>A uc010rik.2 + 0 873 c.873G>A c.(871-873)gaG>gaA p.E291E NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA. 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E291D(2)|p.E291K(1) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 GGAATGCAGAGGTGAAAAGTG 0.458000 30 17 0 0 0.006122 0 0 HBG1 3047 broad.mit.edu 37 11 5269643 5269643 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:5269643G>A uc001mai.1 - 2 827 c.390C>T c.(388-390)tcC>tcT p.S130S HBG1_uc001mah.1_Silent_p.S130S NM_000559 NP_000550 P69891 HBG1_HUMAN Homo sapiens hemoglobin, gamma A (HBG1), mRNA. 130 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity|protein binding large_intestine(1)|lung(3)|skin(1) 5 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTTCTGCCAGGAAGCCTGCA 0.502000 50 13 0 0 0.003163 0 0 DNAH5 1767 broad.mit.edu 37 5 13920716 13920716 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:13920716C>T uc003jfd.2 - 5 713 c.671G>A c.(670-672)cGa>cAa p.R224Q DNAH5_uc003jfe.1_Non-coding_Transcript NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 224 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R224Q(4) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GTCACACTTTCGAAGGTTCAC 0.393000 Kartagener syndrome 43 22 0 0 0.002780 0 0 INHBA 3624 broad.mit.edu 37 7 41730115 41730115 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:41730115G>A uc003thq.3 - 1 649 c.414C>T c.(412-414)ttC>ttT p.F138F INHBA_uc003thr.3_Silent_p.F138F NM_002192 NP_002183 P08476 INHBA_HUMAN Homo sapiens inhibin, beta A (INHBA), mRNA. 138 G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 TGGAAATCTCGAAGTGCAGCG 0.483000 TSP Lung(11;0.080) 37 7 0 0 0.003080 0 0 ATP1B4 23439 broad.mit.edu 37 X 119500469 119500469 + Silent SNP G A A rs145284908 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:119500469G>A uc004esr.3 + 1 237 c.153G>A c.(151-153)tcG>tcA p.S51S ATP1B4_uc004esq.3_Silent_p.S51S|ATP1B4_uc011mtx.2_Silent_p.S51S|ATP1B4_uc011mty.2_Silent_p.S51S NM_001142447 NP_001135919 Q9UN42 AT1B4_HUMAN Homo sapiens ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4), transcript variant 1, mRNA. 51 Glu-rich. ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 33 TGCCCAAATCggaggaggagg 0.542000 23 28 0 0 0.005443 0 0 CAPSL 133690 broad.mit.edu 37 5 35910557 35910557 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:35910557C>T uc003jjt.1 - 2 321 c.226G>A c.(226-228)Gaa>Aaa p.E76K CAPSL_uc003jju.1_Missense_Mutation_p.E76K NM_001042625 NP_653248 Q8WWF8 CAPSL_HUMAN Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA. 76 EF-hand 2. cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) TCTTCTTTTTCCATGACCACA 0.338000 52 19 0 0 0.008871 0 0 CSMD1 64478 broad.mit.edu 37 8 2964062 2964062 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:2964062G>A uc022aqr.1 - 45 7327 c.6937C>T c.(6937-6939)Cca>Tca p.P2313S CSMD1_uc011kwj.2_Missense_Mutation_p.P1706S|CSMD1_uc010lrg.3_Missense_Mutation_p.P382S NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 2314 Sushi 13. 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) TCACATGTTGGGAGAGAACCC 0.423000 17 7 0 0 0.003080 0 0 NFATC2 4773 broad.mit.edu 37 20 50140306 50140306 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr20:50140306G>A uc002xwd.3 - 1 694 c.474C>T c.(472-474)ttC>ttT p.F158F NFATC2_uc002xwc.3_Silent_p.F158F|NFATC2_uc010zyv.2_Intron|NFATC2_uc010zyw.2_Intron|NFATC2_uc002xwe.3_Silent_p.F138F|NFATC2_uc010zyx.2_Silent_p.F138F|NFATC2_uc010zyy.2_Intron|NFATC2_uc010zyz.2_Intron NM_173091 NP_775114 Q13469 NFAC2_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA. 158 Trans-activation domain A (TAD-A). B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) GGTAGCCCTCGAAGCCGGGCA 0.706000 17 6 0 0 0.001168 0 0 KCNK9 51305 broad.mit.edu 37 8 140630786 140630786 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:140630786C>T uc003yvf.1 - 1 904 c.840G>A c.(838-840)cgG>cgA p.R280R KCNK9_uc003yvg.1_Silent_p.R280R|KCNK9_uc003yve.1_Non-coding_Transcript NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA. 280 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity p.R280W(1) NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) GCCGGCTGGGCCGCGGCTCCT 0.652000 70 18 0 0 0.001523 0 0 THBS1 7057 broad.mit.edu 37 15 39874765 39874765 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr15:39874765C>T uc001zkh.3 + 2 618 c.439C>T c.(439-441)Ctc>Ttc p.L147F NM_003246 NP_003237 P07996 TSP1_HUMAN Homo sapiens thrombospondin 1 (THBS1), mRNA. 147 TSP N-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) GGAAGAAGCTCTCCTGGCAAC 0.577000 23 16 0 0 0.006122 0 0 MYCT1 80177 broad.mit.edu 37 6 153042931 153042931 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:153042931G>A uc003qpc.4 + 1 259 c.251G>A c.(250-252)gGa>gAa p.G84E NM_025107 NP_079383 Q8N699 MYCT1_HUMAN Homo sapiens myc target 1 (MYCT1), mRNA. 84 nucleus NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 20 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) GTACTTGGAGGATTTATTTGG 0.418000 53 28 0 0 0.005443 0 0 SDHAP3 728609 broad.mit.edu 37 5 1593264 1593264 + Missense_Mutation SNP C T T rs111700178 by1000genomes TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:1593264C>T uc010itg.1 - 1 273 c.196G>A c.(196-198)Gca>Aca p.A66T SDHAP3_uc011cme.2_Non-coding_Transcript Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA. AGGGCACATGCCTGACCAAAG 0.557000 36 4 0 0 0.000602 0 0 ANK2 287 broad.mit.edu 37 4 114260454 114260454 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:114260454C>T uc003ibe.4 + 31 3969 c.3869C>T c.(3868-3870)tCc>tTc p.S1290F ANK2_uc003ibd.4_Missense_Mutation_p.S1281F|ANK2_uc003ibf.4_Missense_Mutation_p.S1290F|ANK2_uc011cgc.2_Missense_Mutation_p.S466F|ANK2_uc003ibg.4_Missense_Mutation_p.S285F|ANK2_uc003ibh.4_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.S1305F NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 1257 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) GAATGTGTTTCCTTTACAACA 0.373000 40 29 0 0 0.003755 0 0 CDHR3 222256 broad.mit.edu 37 7 105672847 105672847 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:105672847G>A uc003vdl.4 + 18 2470 c.2362G>A c.(2362-2364)Gaa>Aaa p.E788K CDHR3_uc003vdk.3_3'UTR|CDHR3_uc003vdm.4_Missense_Mutation_p.E775K|CDHR3_uc011klt.2_Missense_Mutation_p.E700K|CDHR3_uc003vdn.3_3'UTR NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN Homo sapiens cadherin-related family member 3 (CDHR3), mRNA. 788 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 AGTGACCGGGGAAACATATGA 0.453000 19 3 0 0 0.004672 0 0 SYT15 83849 broad.mit.edu 37 10 46965844 46965844 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:46965844G>A uc001jea.3 - 4 846 c.693C>T c.(691-693)tcC>tcT p.S231S SYT15_uc001jdz.2_Silent_p.S231S|SYT15_uc001jeb.3_Silent_p.S109S|SYT15_uc010qfp.1_Non-coding_Transcript NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA. 231 C2 1. integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 CGTGGTAGACGGAGAACTTCA 0.617000 43 6 0 0 0.001168 0 0 MEOX1 4222 broad.mit.edu 37 17 41720979 41720979 + Missense_Mutation SNP C A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:41720979C>A uc002idz.3 - 1 548 c.519G>T c.(517-519)aaG>aaT p.K173N MEOX1_uc002iea.3_Intron|MEOX1_uc002ieb.3_Missense_Mutation_p.K58N NM_004527 NP_001035091 P50221 MEOX1_HUMAN Homo sapiens mesenchyme homeobox 1 (MEOX1), transcript variant 1, mRNA. 173 nucleus sequence-specific DNA binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0753) CCGTCCTCTCCTTGCGGGCTT 0.582000 30 13 7.93312e-07 1.1133e-06 0.002450 1 0 GRIN2A 2903 broad.mit.edu 37 16 9943662 9943662 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:9943662C>T uc010uym.2 - 5 1589 c.1279G>A c.(1279-1281)Gag>Aag p.E427K GRIN2A_uc002czo.4_Missense_Mutation_p.E427K|GRIN2A_uc010uyn.2_Missense_Mutation_p.E270K|GRIN2A_uc002czr.4_Missense_Mutation_p.E427K NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 427 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.T426T(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ACACACGTCTCGGTCAGGGGG 0.547000 72 17 0 0 0.008871 0 0 DACH2 117154 broad.mit.edu 37 X 85769311 85769311 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:85769311C>T uc004eew.2 + 2 727 c.557C>T c.(556-558)tCt>tTt p.S186F DACH2_uc004eex.2_Missense_Mutation_p.S173F|DACH2_uc010nmq.2_Missense_Mutation_p.S52F|DACH2_uc011mra.1_Missense_Mutation_p.S19F|DACH2_uc010nmr.2_5'UTR NM_053281 NP_001132987 Q96NX9 DACH2_HUMAN Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA. 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding p.R185P(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 CCTAAGCGTTCTTTGGGAGTG 0.448000 13 7 0 0 0.004482 0 0 OR2J3 442186 broad.mit.edu 37 6 29079827 29079827 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:29079827C>T uc011dll.2 + 0 160 c.160C>T c.(160-162)Ctg>Ttg p.L54L NM_001005216 NP_001005216 O76001 OR2J3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA. 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 CCTGTCATACCTGGACTCCCA 0.438000 250 69 0 0 0.003610 0 0 TMEM55B 90809 broad.mit.edu 37 14 20926768 20926768 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:20926768G>A uc001vxk.2 - 6 958 c.805C>T c.(805-807)Ctt>Ttt p.L269F TMEM55B_uc001vxl.2_Missense_Mutation_p.L262F NM_001100814 NP_001094284 Q86T03 TM55B_HUMAN Homo sapiens transmembrane protein 55B (TMEM55B), transcript variant 1, mRNA. 262 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity p.V269L(1) endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1) 11 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) GCCCAATAAAGAGCCCGGCCC 0.567000 48 17 0 0 0.004007 0 0 KCNQ5 56479 broad.mit.edu 37 6 73902301 73902301 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:73902301C>T uc011dyh.2 + 13 2127 c.1780C>T c.(1780-1782)Ctt>Ttt p.L594F KCNQ5_uc011dyi.2_Missense_Mutation_p.L585F|KCNQ5_uc010kat.3_Missense_Mutation_p.L566F|KCNQ5_uc003pgk.3_Missense_Mutation_p.L575F|KCNQ5_uc011dyj.2_Missense_Mutation_p.L465F|KCNQ5_uc011dyk.2_Missense_Mutation_p.L325F NM_001160133 NP_001153605 Q9NR82 KCNQ5_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA. 575 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity p.L575V(1) 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) TGATCAAATTCTTGGAAAAGG 0.418000 65 36 0 0 0.005524 0 0 RGPD3 653489 broad.mit.edu 37 2 107040948 107040948 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:107040948C>T uc010ywi.1 - 19 3532 c.3475G>A c.(3475-3477)Gaa>Aaa p.E1159K NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA. 1159 RanBD1 1. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TGCTTGAATTCTTCAGCCAGC 0.438000 117 64 0 0 0.003610 0 0 DDR1 780 broad.mit.edu 37 6 30862382 30862383 + Missense_Mutation DNP CC TT TT rs150721017 by1000genomes TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:30862382_30862383CC>TT uc003nrv.3 + 9 1489_1490 c.1447_1448CC>TT c.(1447-1449)ccg>TTg p.P483L DDR1_uc010jse.3_Missense_Mutation_p.P483L|DDR1_uc003nrq.3_Missense_Mutation_p.P483L|DDR1_uc003nrr.3_Missense_Mutation_p.P483L|DDR1_uc003nrs.3_Missense_Mutation_p.P483L|DDR1_uc003nrt.3_Missense_Mutation_p.P483L|DDR1_uc011dms.2_Missense_Mutation_p.P501L|DDR1_uc003nru.3_Missense_Mutation_p.P483L|DDR1_uc003nry.2_Missense_Mutation_p.P483L|DDR1_uc003nrx.2_Missense_Mutation_p.R456C|DDR1_uc003nrw.1_Missense_Mutation_p.R255C NM_013994 NP_054700 Q08345 DDR1_HUMAN Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA. 483 Gly/Pro-rich. cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) AGAGCCACCCCCGTACCAGGAG 0.629000 102 50 0 0 0.004672 0 0 FMNL3 91010 broad.mit.edu 37 12 50045849 50045849 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:50045849G>A uc001ruv.1 - 13 1704 c.1470C>T c.(1468-1470)ggC>ggT p.G490G FMNL3_uc001ruw.1_Silent_p.G439G|FMNL3_uc001rut.1_Silent_p.G56G|FMNL3_uc001ruu.1_Silent_p.G340G NM_175736 NP_783863 Q8IVF7 FMNL3_HUMAN Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA. 490 actin cytoskeleton organization Rho GTPase binding|actin binding breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 GCTCTGCAGGGCCTACTCTGG 0.617000 18 12 0 0 0.001368 0 0 UGT2B17 7367 broad.mit.edu 37 4 69431408 69431408 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:69431408C>T uc021xov.1 - 1 798 c.755G>A c.(754-756)gGg>gAg p.G252E NM_001077 NP_001068 O75795 UDB17_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA. 252 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 TTCAGCTTTCCCCATTGTCTC 0.358000 67 24 0 0 0.005443 0 0 PRAMEF10 343071 broad.mit.edu 37 1 12954470 12954470 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:12954470C>T uc001auo.3 - 2 886 c.813G>A c.(811-813)atG>atA p.M271I NM_001039361 NP_001034450 O60809 PRA10_HUMAN Homo sapiens PRAME family member 10 (PRAMEF10), mRNA. 271 NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTATATAAAGCATCTGGGGGT 0.468000 227 30 0 0 0.002222 0 0 ETV1 2115 broad.mit.edu 37 7 13975376 13975376 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:13975376G>A uc021zzz.1 - 5 598 c.511C>T c.(511-513)Cca>Tca p.P171S ETV1_uc021zzt.1_Missense_Mutation_p.P131S|ETV1_uc021zzu.1_Intron|ETV1_uc021zzv.1_Missense_Mutation_p.P113S|ETV1_uc021zzw.1_Missense_Mutation_p.P131S|ETV1_uc021zzx.1_Intron|ETV1_uc021zzy.1_Missense_Mutation_p.P113S|ETV1_uc022aaa.1_Missense_Mutation_p.P153S|ETV1_uc022aab.1_Missense_Mutation_p.P171S|ETV1_uc003ssw.4_Missense_Mutation_p.P171S|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Missense_Mutation_p.P153S|ETV1_uc022aad.1_Missense_Mutation_p.P153S|ETV1_uc010ktv.3_Missense_Mutation_p.P40S NM_004956 NP_004947 P50549 ETV1_HUMAN Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA. 171 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 GACTGCGATGGAGGGAGGTGA 0.512000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 225 78 0 0 0.003610 0 0 OSBPL1A 114876 broad.mit.edu 37 18 21897151 21897151 + Missense_Mutation SNP G A A rs144234125 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr18:21897151G>A uc002kve.3 - 10 1049 c.832C>T c.(832-834)Cgc>Tgc p.R278C OSBPL1A_uc002kvf.3_Missense_Mutation_p.R58C NM_080597 NP_542164 Q9BXW6 OSBL1_HUMAN Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA. 278 PH. cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) CATCCCTGGCGATAAATATTA 0.348000 50 32 0 0 0.004289 0 0 SLC25A6 293 broad.mit.edu 37 X 1506175 1506175 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:1506175C>T uc004cpt.3 - 2 873 c.736G>A c.(736-738)Gga>Aga p.G246R CRLF2_uc022brt.1_Intron NM_001636 NP_001627 P12236 ADT3_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 (SLC25A6), nuclear gene encoding mitochondrial protein, mRNA. 246 active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle integral to membrane|mitochondrial inner membrane presequence translocase complex ATP:ADP antiporter activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1) 11 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) Clodronate(DB00720) CGAGTACCTCCTTTGCGCCCG 0.672000 97 41 0 0 0.003610 0 0 GCFC2 6936 broad.mit.edu 37 2 75933673 75933673 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:75933673C>T uc002sno.3 - 1 500 c.370G>A c.(370-372)Gga>Aga p.G124R GCFC2_uc002snn.3_5'UTR|GCFC2_uc010fft.3_5'UTR|GCFC2_uc002snp.4_Missense_Mutation_p.G124R NM_003203 NP_001188263 P16383 GCF_HUMAN Homo sapiens GC-rich sequence DNA-binding factor 2 (GCFC2), transcript variant 1, mRNA. 124 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCTTTTTCTCCAAGAGAGCTA 0.318000 54 20 0 0 0.001882 0 0 ADAM21 8747 broad.mit.edu 37 14 70924293 70924293 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:70924293C>T uc021rvq.1 + 0 77 c.77C>T c.(76-78)tCc>tTc p.S26F ADAM21_uc001xmd.3_Missense_Mutation_p.S26F NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA. 26 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TTGTCTATTTCCGGCTACTGT 0.542000 155 46 0 0 0.003214 0 0 PRAM1 84106 broad.mit.edu 37 19 8564341 8564341 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:8564341C>T uc002mkd.3 - 1 414 c.351G>A c.(349-351)aaG>aaA p.K117K NM_032152 NP_115528 Q96QH2 PRAM_HUMAN Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA. 165 8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich. lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 TGGACGGCTTCTTGGGGAGGT 0.647000 98 83 0 0 0.003610 0 0 GJB5 2709 broad.mit.edu 37 1 35223285 35223285 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:35223285G>A uc001bxu.3 + 1 454 c.354G>A c.(352-354)ctG>ctA p.L118L GJB5_uc021okz.1_Silent_p.L118L|GJB4_uc001bxv.1_5'Flank NM_005268 NP_005259 O95377 CXB5_HUMAN Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA. 118 cell communication|epidermis development connexon complex|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 Myeloproliferative disorder(586;0.0393) GCCTCTACCTGAACCCCGGCA 0.597000 95 39 0 0 0.005524 0 0 ZNF90 7643 broad.mit.edu 37 19 20215074 20215074 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:20215074C>T uc002nor.2 + 1 169 c.30C>T c.(28-30)gcC>gcT p.A10A ZNF90_uc021url.1_Intron NM_007138 NP_009069 Q03938 ZNF90_HUMAN Homo sapiens zinc finger protein 90 (ZNF90), mRNA. 10 KRAB. Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 GAGATGTGGCCATAGAATTCT 0.418000 42 28 0 0 0.003755 0 0 PCDHB15 56121 broad.mit.edu 37 5 140626826 140626826 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:140626826C>T uc003lje.3 + 0 1680 c.1680C>T c.(1678-1680)ttC>ttT p.F560F NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN Homo sapiens protocadherin beta 15 (PCDHB15), mRNA. 560 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.F560F(2) NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTCGCCCTTCGTGCTGTACC 0.721000 34 15 0 0 0.007413 0 0 ATHL1 80162 broad.mit.edu 37 11 293704 293704 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:293704C>T uc010qvu.2 + 9 1706 c.1591C>T c.(1591-1593)Ccc>Tcc p.P531S ATHL1_uc001lor.4_Missense_Mutation_p.P283S|ATHL1_uc001lou.4_Missense_Mutation_p.P106S|ATHL1_uc001lov.4_5'Flank NM_025092 NP_079368 Q32M88 ATHL1_HUMAN Homo sapiens ATH1, acid trehalase-like 1 (yeast) (ATHL1), mRNA. 531 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3) 17 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) TGTGACGTCCCCCCAGGGCCC 0.622000 89 47 0 0 0.003610 0 0 ICAM2 3384 broad.mit.edu 37 17 62081054 62081054 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:62081054C>T uc002jdu.4 - 2 831 c.599G>A c.(598-600)gGt>gAt p.G200D C17orf72_uc002jdt.4_3'UTR|C17orf72_uc021ubo.1_3'UTR|C17orf72_uc010wpw.2_3'UTR|C17orf72_uc010wpu.2_3'UTR|C17orf72_uc010wpv.2_3'UTR|ICAM2_uc002jdw.4_Missense_Mutation_p.G200D|ICAM2_uc010ded.3_Missense_Mutation_p.G200D|ICAM2_uc002jdx.4_Missense_Mutation_p.G200D|ICAM2_uc002jdv.4_Missense_Mutation_p.G200D NM_000873 NP_001093259 P13598 ICAM2_HUMAN Homo sapiens intercellular adhesion molecule 2 (ICAM2), transcript variant 5, mRNA. 200 cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding p.G200D(2) large_intestine(1)|lung(2)|ovary(1)|skin(2) 6 GATGTTGCCACCGCGAGACAT 0.567000 60 11 0 0 0.000978 0 0 DEFB125 245938 broad.mit.edu 37 20 76674 76674 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr20:76674G>A uc002wcw.3 + 1 87 c.87G>A c.(85-87)aaG>aaA p.K29K NM_153325 NP_697020 Q8N687 DB125_HUMAN Homo sapiens defensin, beta 125 (DEFB125), mRNA. 29 defense response to bacterium extracellular region p.K29M(1) central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.156) AATGTTGGAAGAATAATGTAG 0.323000 95 52 0 0 0.003610 0 0 SCN7A 6332 broad.mit.edu 37 2 167328849 167328849 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:167328849C>T uc002udu.2 - 4 680 c.550G>A c.(550-552)Gat>Aat p.D184N SCN7A_uc010fpm.2_Non-coding_Transcript NM_002976 NP_002967 Q01118 SCN7A_HUMAN Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA. 184 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 ACGCTGAAATCGAGCCAGTTC 0.353000 14 10 0 0 0.000978 0 0 SPRR1B 6699 broad.mit.edu 37 1 153005062 153005062 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:153005062C>T uc001fba.3 + 1 305 c.241C>T c.(241-243)Cca>Tca p.P81S SPRR1B_uc021ozp.1_Missense_Mutation_p.P81S NM_003125 NP_003116 P22528 SPR1B_HUMAN Homo sapiens small proline-rich protein 1B (SPRR1B), mRNA. 81 keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2) 9 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CACTCCAGCACCAGCCCAGCA 0.607000 48 18 0 0 0.006122 0 0 ULK4 54986 broad.mit.edu 37 3 41996125 41996125 + Missense_Mutation SNP T A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:41996125T>A uc003ckv.4 - 1 328 c.127A>T c.(127-129)Ata>Tta p.I43L ULK4_uc003ckw.2_Missense_Mutation_p.I43L|ULK4_uc003ckx.1_Missense_Mutation_p.I43L NM_017886 NP_060356 Q96C45 ULK4_HUMAN Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA. 43 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) CAGTTGGTTATTTCAGGCCTT 0.423000 78 33 0 0 0.003271 0 0 MUC17 140453 broad.mit.edu 37 7 100685611 100685611 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:100685611C>T uc003uxp.1 + 2 10967 c.10914C>T c.(10912-10914)acC>acT p.T3638T MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 3638 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTCCATTAACCATTATGCCTG 0.488000 104 26 0 0 0.005443 0 0 NCOR2 9612 broad.mit.edu 37 12 124825290 124825290 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:124825290G>A uc021rga.1 - 34 5334 c.5217C>T c.(5215-5217)atC>atT p.I1739I NCOR2_uc021rgb.1_Silent_p.I1723I|NCOR2_uc010tbb.2_Silent_p.I1732I|NCOR2_uc010tbc.2_Silent_p.I1722I|NCOR2_uc021rgc.1_Silent_p.I1722I|NCOR2_uc010tba.2_Silent_p.I1740I|NCOR2_uc010tax.2_5'Flank NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA. 1740 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGGACAGGTCGATGATGCCTG 0.697000 12 5 0 0 0.001168 0 0 FREM2 341640 broad.mit.edu 37 13 39263503 39263503 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr13:39263503C>T uc001uwv.3 + 0 2331 c.2022C>T c.(2020-2022)gtC>gtT p.V674V NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA. 674 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CATTTAGAGTCCAGGATAACC 0.562000 90 35 0 0 0.004289 0 0 MRPL37 51253 broad.mit.edu 37 1 54681876 54681876 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:54681876C>T uc001cxa.4 + 5 1130 c.1053C>T c.(1051-1053)gtC>gtT p.V351V MRPL37_uc009vzp.3_Silent_p.V220V NM_016491 NP_057575 Q9BZE1 RM37_HUMAN Homo sapiens mitochondrial ribosomal protein L37 (MRPL37), nuclear gene encoding mitochondrial protein, mRNA. 351 translation mitochondrial ribosome structural constituent of ribosome NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2) 19 ATGGACGTGTCTTCCATTTCC 0.522000 115 45 0 0 0.003610 0 0 GNB3 2784 broad.mit.edu 37 12 6954844 6954844 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:6954844C>T uc001qrd.3 + 9 1199 c.794C>T c.(793-795)tCc>tTc p.S265F GNB3_uc001qrc.3_Missense_Mutation_p.S221F|GNB3_uc009zfe.3_Missense_Mutation_p.S264F|CDCA3_uc001qre.2_3'UTR|CDCA3_uc001qrf.1_Non-coding_Transcript NM_002075 NP_002066 P16520 GBB3_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 3 (GNB3), mRNA. 265 G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1) 20 ATCTGCTTCTCCCACGAGAGC 0.597000 150 62 0 0 0.003610 0 0 MGAT4A 11320 broad.mit.edu 37 2 99294786 99294786 + Missense_Mutation SNP A C C TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:99294786A>C uc002sze.3 - 2 557 c.243T>G c.(241-243)gaT>gaG p.D81E MGAT4A_uc010fil.3_5'UTR NM_012214 NP_036346 Q9UM21 MGT4A_HUMAN Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A (MGAT4A), transcript variant 1, mRNA. 81 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|extracellular region|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 19 TATTCAACGCATCCTTACTTC 0.289000 59 20 0 0 0.001882 0 0 C2CD3 26005 broad.mit.edu 37 11 73824918 73824918 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:73824918G>A uc001ouu.2 - 10 1977 c.1750C>T c.(1750-1752)Cac>Tac p.H584Y C2CD3_uc001ouv.2_Missense_Mutation_p.H584Y NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA. 584 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) ACAGGAAAGTGATATTCTACA 0.353000 47 18 0 0 0.007413 0 0 TIMP3 7078 broad.mit.edu 37 22 33255299 33255299 + Missense_Mutation SNP T A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr22:33255299T>A uc003anb.3 + 4 1757 c.571T>A c.(571-573)Tac>Aac p.Y191N SYN3_uc003amx.3_Intron|SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Intron NM_000362 NP_000353 P35625 TIMP3_HUMAN Homo sapiens TIMP metallopeptidase inhibitor 3 (TIMP3), mRNA. 191 Y -> C (in SFD). negative regulation of membrane protein ectodomain proteolysis|visual perception metal ion binding|metalloendopeptidase inhibitor activity|protein binding endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1) 7 GAAGGGCGGCTACTGCAGCTG 0.592000 56 14 0 0 0.002450 0 0 MAST2 23139 broad.mit.edu 37 1 46497984 46497984 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:46497984C>T uc001cov.3 + 24 3605 c.3322C>T c.(3322-3324)Cac>Tac p.H1108Y MAST2_uc001cow.3_Missense_Mutation_p.H1108Y|MAST2_uc001cpa.3_Intron NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA. 1108 PDZ. regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CATCATCATCCACCGAGCTGG 0.572000 38 21 0 0 0.001523 0 0 DSCAM 1826 broad.mit.edu 37 21 42080586 42080586 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr21:42080586G>A uc002yyq.1 - 1 607 c.155C>T c.(154-156)cCt>cTt p.P52L DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 52 Ig-like C2-type 1. 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) AGTCACAGGAGGGATGCCTGC 0.597000 136 44 0 0 0.002522 0 0 ROR2 4920 broad.mit.edu 37 9 94486143 94486143 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr9:94486143G>A uc004arj.2 - 8 2832 c.2633C>T c.(2632-2634)cCc>cTc p.P878L ROR2_uc004ari.1_Intron NM_004560 NP_004551 Q01974 ROR2_HUMAN Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA. 878 Ser/Thr-rich. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TGTGTTGGAGGGGGCCGTGGT 0.647000 66 59 0 0 0.003610 0 0 ABCB11 8647 broad.mit.edu 37 2 169787195 169787195 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:169787195C>T uc002ueo.1 - 24 3517 c.3391G>A c.(3391-3393)Gat>Aat p.D1131N ABCB11_uc010zda.1_Missense_Mutation_p.D573N|ABCB11_uc010zdb.1_Missense_Mutation_p.D607N NM_003742 NP_003733 O95342 ABCBB_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA. 1131 ABC transporter 2. bile acid biosynthetic process Golgi membrane|apical plasma 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) TGATCAGGATCATAGAAACGT 0.473000 26 9 0 0 0.006214 0 0 HSD3B2 3284 broad.mit.edu 37 1 119958096 119958096 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:119958096C>T uc001ehs.3 + 0 827 c.54C>T c.(52-54)atC>atT p.I18I HSD3B2_uc021ost.1_Silent_p.I18I|HSD3B2_uc001eht.3_Silent_p.I18I|HSD3B2_uc001ehu.3_Silent_p.I18I NM_001166120 NP_001159592 P26439 3BHS2_HUMAN Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA. 18 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) GTCAGAGGATCGTCCGCCTGT 0.512000 67 33 0 0 0.002096 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A G G rs141732548 by1000genomes TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr21:14414855A>G uc002yiy.3 + 1 c.292A>G ANKRD30BP2_uc002yja.4_Non-coding_Transcript Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA. GCCAATGGCCATGCAGAAGTA 0.448000 49 7 0 0 0.004482 0 0 RNF130 55819 broad.mit.edu 37 5 179440119 179440119 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:179440119C>T uc003mll.1 - 2 1042 c.635G>A c.(634-636)tGg>tAg p.W212* RNF130_uc003mlm.1_Nonsense_Mutation_p.W212* NM_018434 NP_060904 Q86XS8 GOLI_HUMAN Homo sapiens ring finger protein 130 (RNF130), mRNA. 212 apoptosis cytoplasm|integral to membrane|nucleus ubiquitin-protein ligase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 17 all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212) all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAATATGAGCCATGCTGAAGA 0.438000 93 47 0 0 0.003214 0 0 SEMA3C 10512 broad.mit.edu 37 7 80427444 80427444 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:80427444G>A uc011kgw.2 - 10 1228 c.1149C>T c.(1147-1149)tcC>tcT p.S383S SEMA3C_uc003uhj.3_Silent_p.S365S|SEMA3C_uc011kgx.1_Silent_p.S217S NM_006379 NP_006370 Q99985 SEM3C_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA. 365 Sema. immune response|response to drug membrane receptor activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TGCCCTGATAGGAAATCAGCT 0.398000 45 12 0 0 0.001855 0 0 CCNA1 8900 broad.mit.edu 37 13 37014168 37014168 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr13:37014168G>A uc001uvr.4 + 5 1296 c.946G>A c.(946-948)Gat>Aat p.D316N CCNA1_uc010teo.2_Missense_Mutation_p.D272N|CCNA1_uc010abq.3_Missense_Mutation_p.D272N|CCNA1_uc010abp.3_Missense_Mutation_p.D272N|CCNA1_uc001uvs.4_Missense_Mutation_p.D315N|CCNA1_uc010abr.3_Non-coding_Transcript NM_003914 NP_001104517 P78396 CCNA1_HUMAN Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA. 316 G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding p.T315T(1) breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) CTATATCACCGATGATACATA 0.383000 65 38 0 0 0.006230 0 0 EPHA4 2043 broad.mit.edu 37 2 222294835 222294835 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:222294835G>A uc002vmq.3 - 14 2575 c.2533C>T c.(2533-2535)Cct>Tct p.P845S EPHA4_uc002vmr.2_Missense_Mutation_p.P845S|EPHA4_uc010zlm.1_Missense_Mutation_p.P786S NM_004438 NP_004429 P54764 EPHA4_HUMAN Homo sapiens EPH receptor A4 (EPHA4), mRNA. 845 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) TCCATTGGAGGGGGTAACCGA 0.512000 92 24 0 0 0.003954 0 0 CTAGE1 64693 broad.mit.edu 37 18 19997471 19997471 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr18:19997471C>T uc002ktv.1 - 0 408 c.304G>A c.(304-306)Gaa>Aaa p.E102K NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA. 102 integral to membrane p.E102K(1) cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) TTCAGCTTTTCGCAGGTTGCC 0.363000 160 116 0 0 0.003610 0 0 ODZ3 55714 broad.mit.edu 37 4 183635324 183635324 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:183635324G>A uc003ivd.1 + 11 2381 c.2306G>A c.(2305-2307)aGa>aAa p.R769K ODZ3_uc003ive.1_Missense_Mutation_p.R175K NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 769 EGF-like 8. signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CCTGGATGGAGAGGAGCAGGC 0.507000 56 19 0 0 0.001523 0 0 OR2W1 26692 broad.mit.edu 37 6 29012196 29012196 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:29012196C>T uc003nlw.2 - 0 757 c.757G>A c.(757-759)Gga>Aga p.G253R LOC100129636_uc021ytq.1_Intron NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA. 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 ATAATAGTTCCATAGAACATA 0.448000 95 18 0 0 0.006122 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110509188 110509188 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:110509188C>T uc003yne.3 + 63 10472 c.10368C>T c.(10366-10368)gcC>gcT p.A3456A NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 3456 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ACAATGAAGCCCATGGAGGTT 0.378000 HNSCC(38;0.096) 79 28 0 0 0.006320 0 0 MSRB3 253827 broad.mit.edu 37 12 65847568 65847568 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:65847568C>T uc001ssn.3 + 4 500 c.374C>T c.(373-375)tCc>tTc p.S125F MSRB3_uc009zqp.3_Missense_Mutation_p.S118F|MSRB3_uc001ssm.3_Missense_Mutation_p.S118F|MSRB3_uc021qzy.1_Missense_Mutation_p.S118F NM_198080 NP_932346 Q8IXL7 MSRB3_HUMAN Homo sapiens methionine sulfoxide reductase B3 (MSRB3), transcript variant 1, mRNA. 125 protein repair endoplasmic reticulum|mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.131) GATGACTTTTCCTATGGGATG 0.458000 92 29 0 0 0.002096 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562409 140562409 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:140562409G>A uc003liv.3 + 0 1430 c.275G>A c.(274-276)cGa>cAa p.R92Q NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN Homo sapiens protocadherin beta 16 (PCDHB16), mRNA. 92 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAGCTAGATCGAGAGGAGCTA 0.463000 40 18 0 0 0.007413 0 0 SLC13A1 6561 broad.mit.edu 37 7 122768996 122768996 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:122768996G>A uc003vkm.3 - 9 1061 c.1036C>T c.(1036-1038)Caa>Taa p.Q346* SLC13A1_uc010lks.3_Nonsense_Mutation_p.Q222* NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA. 346 integral to membrane|plasma membrane sodium:sulfate symporter activity p.Q346K(2) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) ACAATTTCTTGATACCTGTGG 0.418000 15 5 0 0 0.000602 0 0 HRH4 59340 broad.mit.edu 37 18 22057250 22057250 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr18:22057250G>A uc002kvi.3 + 2 997 c.897G>A c.(895-897)agG>agA p.R299R HRH4_uc010xbd.2_3'UTR|HRH4_uc010dlx.3_Silent_p.R211R NM_021624 NP_067637 Q9H3N8 HRH4_HUMAN Homo sapiens histamine receptor H4 (HRH4), transcript variant 1, mRNA. 299 integral to membrane|plasma membrane histamine receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) TTAGAGCCAGGAGATTAGCCA 0.423000 139 80 0 0 0.003610 0 0 SF3A1 10291 broad.mit.edu 37 22 30741175 30741175 + Missense_Mutation SNP T G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr22:30741175T>G uc003ahl.3 - 3 530 c.398A>C c.(397-399)cAa>cCa p.Q133P SF3A1_uc021wnt.1_Intron NM_005877 NP_005868 Q15459 SF3A1_HUMAN Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA. 133 nuclear mRNA 3'-splice site recognition U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm RNA binding|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 TACTTGGGCTTGGACCTAAGA 0.572000 122 67 0 0 0.003610 0 0 MXRA5 25878 broad.mit.edu 37 X 3241070 3241070 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:3241070C>T uc004crg.4 - 4 2813 c.2656G>A c.(2656-2658)Gaa>Aaa p.E886K NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 886 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TCAACAACTTCCTCCAGAGGT 0.478000 33 38 0 0 0.006999 0 0 PASD1 139135 broad.mit.edu 37 X 150832698 150832698 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:150832698G>A uc004fev.4 + 10 1281 c.949G>A c.(949-951)Gag>Aag p.E317K NM_173493 NP_775764 Q8IV76 PASD1_HUMAN Homo sapiens PAS domain containing 1 (PASD1), mRNA. 317 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) AGTGGACCAGGAGGGCCCAAT 0.597000 22 31 0 0 0.008361 0 0 COL5A1 1289 broad.mit.edu 37 9 137716702 137716702 + Splice_Site SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr9:137716702G>A uc004cfe.3 + 62 5336 c.4954_splice c.e62+1 p.G1652_splice BC058547_uc004cff.3_Intron NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 1652 Fibrillar collagen NC1. 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) TTCCCAGATGGTGAGGGCCTG 0.662000 13 10 0 0 0.006214 0 0 ECEL1 9427 broad.mit.edu 37 2 233344935 233344935 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:233344935C>T uc002vsv.2 - 17 2461 c.2256G>A c.(2254-2256)gaG>gaA p.E752E ECEL1_uc010fya.1_Silent_p.E750E|ECEL1_uc010fyb.1_Silent_p.E459E NM_004826 NP_004817 O95672 ECEL1_HUMAN Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA. 752 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) GGCCAAACTCCTCAAACTGGG 0.642000 54 10 0 0 0.008291 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45518270 45518271 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr21:45518270_45518271CC>TT uc002zea.3 + 20 3370_3371 c.3201_3202CC>TT c.(3199-3204)ccccct>ccTTct p.P1068S TRAPPC10_uc010gpo.3_Missense_Mutation_p.P779S|TRAPPC10_uc011afa.2_Missense_Mutation_p.P446S|TRAPPC10_uc011afb.1_Missense_Mutation_p.P173S NM_003274 NP_003265 P48553 TPC10_HUMAN Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA. 1068 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 AGATCTTTCCCCCTTCGGGAAT 0.485000 104 45 0 0 0.004672 0 0 AK094599 0 broad.mit.edu 37 2 133070479 133070479 + RNA SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:133070479C>T uc002ttk.1 + 2 c.133C>T Homo sapiens cDNA FLJ37280 fis, clone BRAMY2012881. GTTATCTTCACCAAGGAAGAG 0.443000 88 14 0 0 0.002450 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13339714 13339714 + RNA SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:13339714G>A uc003gms.3 + 0 c.4678G>A Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA. kidney(3)|lung(1) 4 AGTTACCAAGGAGGGCCTGGA 0.502000 6 3 0 0 0.004672 0 0 DDX53 168400 broad.mit.edu 37 X 23018892 23018892 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:23018892G>A uc004daj.3 + 0 815 c.718G>A c.(718-720)Gta>Ata p.V240I NM_182699 NP_874358 Q86TM3 DDX53_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA. 240 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 CATAATAAGGGTAGGGATTGT 0.408000 19 24 0 0 0.002780 0 0 KLHL13 90293 broad.mit.edu 37 X 117035815 117035815 + Silent SNP T A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:117035815T>A uc011mtp.2 - 6 1603 c.1470A>T c.(1468-1470)ggA>ggT p.G490G KLHL13_uc004eqk.3_Silent_p.G436G|KLHL13_uc004eql.3_Silent_p.G487G|KLHL13_uc011mtn.2_Silent_p.G327G|KLHL13_uc011mto.2_Silent_p.G481G|KLHL13_uc011mtq.2_Silent_p.G471G|KLHL13_uc004eqm.3_Silent_p.G445G|KLHL13_uc022cde.1_Silent_p.G471G NM_001168299 NP_001161775 Q9P2N7 KLH13_HUMAN Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA. 487 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 ACATCACTCCTCCATACACAG 0.353000 20 24 0 0 0.003954 0 0 XPNPEP2 7512 broad.mit.edu 37 X 128887197 128887197 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:128887197G>A uc004eut.1 + 10 1324 c.1080G>A c.(1078-1080)aaG>aaA p.K360K NM_003399 NP_003390 O43895 XPP2_HUMAN Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA. 360 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity p.K360M(1) endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 AGAACAGCAAGGAGCAGGCCC 0.557000 59 5 0 0 0.000602 0 0 SERPINA5 5104 broad.mit.edu 37 14 95054272 95054272 + Silent SNP C T T rs1803280 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:95054272C>T uc001ydm.2 + 2 783 c.573C>T c.(571-573)ctC>ctT p.L191L SERPINA5_uc010ave.2_Silent_p.L191L|SERPINA5_uc001ydn.1_Silent_p.L191L NM_000624 NP_000615 P05154 IPSP_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA. 191 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) TTAAGAACCTCGATAGCAATG 0.458000 125 45 0 0 0.003610 0 0 SNCAIP 9627 broad.mit.edu 37 5 121759225 121759225 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:121759225G>A uc003ksw.1 + 3 999 c.793G>A c.(793-795)Gat>Aat p.D265N SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.D265N|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.D312N|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.D265N NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 265 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GACATTTAGTGATCCTCATGG 0.473000 34 8 0 0 0.003080 0 0 USH2A 7399 broad.mit.edu 37 1 216262415 216262415 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:216262415C>T uc001hku.1 - 22 5212 c.4825G>A c.(4825-4827)Gaa>Aaa p.E1609K NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 1609 Laminin G-like 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GCAATTATTTCATGCCATTTT 0.338000 HNSCC(13;0.011) 71 27 0 0 0.006320 0 0 PIGF 5281 broad.mit.edu 37 2 46842248 46842248 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:46842248G>A uc002rvd.3 - 1 220 c.56C>T c.(55-57)tCa>tTa p.S19L PIGF_uc002rvc.3_Missense_Mutation_p.S19L|CRIPT_uc002rve.3_5'Flank NM_002643 NP_002634 Q07326 PIGF_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class F (PIGF), transcript variant 1, mRNA. 19 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane ethanolaminephosphotransferase activity breast(1)|endometrium(1)|lung(1)|stomach(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) TAGGATAATTGAAAATATGCA 0.348000 70 29 0 0 0.002445 0 0 C9orf131 138724 broad.mit.edu 37 9 35042999 35042999 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr9:35042999G>A uc003zvw.3 + 1 402 c.373G>A c.(373-375)Gaa>Aaa p.E125K C9orf131_uc003zvu.3_Missense_Mutation_p.E77K|C9orf131_uc003zvv.3_Missense_Mutation_p.E52K|C9orf131_uc003zvx.3_Missense_Mutation_p.E90K NM_203299 NP_976044 Q5VYM1 CI131_HUMAN Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA. 125 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) TCCTACCAAAGAAGCTCCCAC 0.542000 44 41 0 0 0.005524 0 0 NPY2R 4887 broad.mit.edu 37 4 156135760 156135760 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:156135760C>T uc003ioq.3 + 1 1158 c.669C>T c.(667-669)tcC>tcT p.S223S NPY2R_uc003ior.3_Silent_p.S223S|NPY2R_uc021xtm.1_Silent_p.S223S NM_000910 NP_000901 P49146 NPY2R_HUMAN Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA. 223 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) GTCTTTCTTCCTTGTTGATCT 0.448000 103 44 0 0 0.002522 0 0 MYO5C 55930 broad.mit.edu 37 15 52497174 52497174 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr15:52497174C>T uc010bff.3 - 37 4870 c.4708G>A c.(4708-4710)Gag>Aag p.E1570K MYO5C_uc010uga.2_Non-coding_Transcript|AF007131_uc002abv.3_Non-coding_Transcript NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN Homo sapiens myosin VC (MYO5C), mRNA. 1570 Dilute. myosin complex ATP binding|actin binding|calmodulin binding|motor activity p.P1569L(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) CTCACAAGCTCGGGGTCCAGG 0.582000 46 22 0 0 0.001523 0 0 DNAH5 1767 broad.mit.edu 37 5 13769624 13769624 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:13769624C>T uc003jfd.2 - 56 9748 c.9706G>A c.(9706-9708)Gat>Aat p.D3236N DNAH5_uc003jfc.2_5'Flank NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3236 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCGGCTTTATCGTTGGCCACT 0.418000 Kartagener syndrome 81 38 0 0 0.002222 0 0 THSD7B 80731 broad.mit.edu 37 2 138033594 138033594 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:138033594G>A uc002tva.1 + 10 2405 c.2405G>A c.(2404-2406)aGa>aAa p.R802K THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.R692K NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. p.P802T(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TTACAAACAAGAGGTATGATG 0.373000 30 15 0 0 0.002450 0 0 RP2 6102 broad.mit.edu 37 X 46719518 46719518 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:46719518C>T uc004dgw.4 + 2 1053 c.864C>T c.(862-864)ttC>ttT p.F288F NM_006915 NP_008846 O75695 XRP2_HUMAN Homo sapiens retinitis pigmentosa 2 (X-linked recessive) (RP2), mRNA. 288 CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell morphogenesis|protein folding|visual perception cytoplasm|plasma membrane ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding NS(1)|large_intestine(4)|lung(5)|stomach(1) 11 CACCTGACTTCCTTCCTCTTC 0.388000 14 24 0 0 0.005443 0 0 DSG1 1828 broad.mit.edu 37 18 28923481 28923481 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr18:28923481G>A uc002kwp.3 + 11 1968 c.1756G>A c.(1756-1758)Gtt>Att p.V586I DSG1_uc010xbp.2_5'Flank NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 586 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding p.V586F(2) NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) CTTTGAGCCTGTTCCCGAATG 0.483000 99 10 0 0 0.006214 0 0 RYR2 6262 broad.mit.edu 37 1 237754065 237754065 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:237754065G>A uc001hyl.1 + 30 4053 c.3933G>A c.(3931-3933)gcG>gcA p.A1311A NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 1311 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCGAGTGCGCGGAGGTCTTCT 0.502000 158 58 0 0 0.003610 0 0 NRG3 10718 broad.mit.edu 37 10 84711264 84711264 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:84711264C>T uc021pvc.1 + 4 1121 c.1094C>T c.(1093-1095)tCa>tTa p.S365L NRG3_uc010qlz.1_Missense_Mutation_p.S364L|NRG3_uc021pvb.1_Intron|NRG3_uc001kco.2_Missense_Mutation_p.S365L|NRG3_uc001kcp.2_Missense_Mutation_p.S144L|NRG3_uc001kcq.2_Missense_Mutation_p.S15L|NRG3_uc021pvd.1_Missense_Mutation_p.S144L|NRG3_uc021pve.1_Missense_Mutation_p.S169L|NRG3_uc021pvf.1_Missense_Mutation_p.S15L|NRG3_uc021pvg.1_Missense_Mutation_p.S169L|NRG3_uc021pvh.1_5'UTR|NRG3_uc021pvi.1_Missense_Mutation_p.S195L|NRG3_uc021pvk.1_5'UTR|NRG3_uc001kcr.2_Missense_Mutation_p.S15L|NRG3_uc021pvl.1_Missense_Mutation_p.S15L NM_001010848 NP_001010848 P56975 NRG3_HUMAN Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA. 365 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) CTGTCAATTTCATGTATCATC 0.378000 60 39 0 0 0.008740 0 0 RNF149 284996 broad.mit.edu 37 2 101911607 101911607 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:101911607G>A uc002taz.2 - 1 625 c.497C>T c.(496-498)cCa>cTa p.P166L RNF149_uc002tax.2_Non-coding_Transcript NM_173647 NP_775918 Q8NC42 RN149_HUMAN Homo sapiens ring finger protein 149 (RNF149), mRNA. 166 PA. integral to membrane ligase activity|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 TCTTCCTTTTGGATAGCTAAT 0.393000 44 6 0 0 0.001984 0 0 CD1E 913 broad.mit.edu 37 1 158324216 158324216 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:158324216C>T uc001fse.3 + 1 401 c.108C>T c.(106-108)tcC>tcT p.S36S CD1E_uc010pid.2_Silent_p.S34S|CD1E_uc010pie.2_Intron|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Silent_p.S36S|CD1E_uc001fsf.3_Silent_p.S36S|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Intron|CD1E_uc001fsj.3_Silent_p.S36S|CD1E_uc001fsk.3_Silent_p.S36S|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Silent_p.S36S|CD1E_uc001frz.3_Silent_p.S36S|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank NM_030893 NP_112155 P15812 CD1E_HUMAN Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA. 36 antigen processing and presentation|immune response Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) AGCAGCTGTCCTTCCGCATGC 0.542000 124 52 0 0 0.003610 0 0 DOK1 1796 broad.mit.edu 37 2 74783057 74783058 + Missense_Mutation DNP CC TT TT TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:74783057_74783058CC>TT uc002sms.3 + 3 861_862 c.491_492CC>TT c.(490-492)gcc>gTT p.A164V LOXL3_uc010ffm.1_5'Flank|LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.3_Missense_Mutation_p.A25V|DOK1_uc010ffo.3_Missense_Mutation_p.A25V|DOK1_uc002smt.3_Intron|DOK1_uc002smu.3_Intron|DOK1_uc010yrz.2_Missense_Mutation_p.A153V|DOK1_uc002smw.1_5'UTR NM_001381 NP_001184189 Q99704 DOK1_HUMAN Homo sapiens docking protein 1, 62kDa (downstream of tyrosine kinase 1) (DOK1), transcript variant 1, mRNA. 164 IRS-type PTB. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol|perinuclear region of cytoplasm insulin receptor binding endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 AGGACTGAGGCCGCCGAGCGCT 0.639000 62 23 0 0 0.004672 0 0 OR5L1 219437 broad.mit.edu 37 11 55579578 55579578 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:55579578G>A uc001nhw.1 + 0 636 c.636G>A c.(634-636)atG>atA p.M212I NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA. 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M212I(2) NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TTACCATCATGATCATCCTCA 0.502000 102 20 0 0 0.008871 0 0 HIPK2 28996 broad.mit.edu 37 7 139415944 139415944 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:139415944G>A uc003vvf.4 - 1 1161 c.890C>T c.(889-891)cCc>cTc p.P297L HIPK2_uc003vvd.4_Missense_Mutation_p.P297L NM_022740 NP_073577 Q9H2X6 HIPK2_HUMAN Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA. 297 Interaction with DAXX.|Protein kinase. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction PML body|centrosome|nuclear membrane ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) GTATTTGAGGGGCAAGGGGCT 0.483000 83 40 0 0 0.007835 0 0 FNBP1L 54874 broad.mit.edu 37 1 94016545 94016545 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:94016545C>T uc010otk.2 + 15 1844 c.1693C>T c.(1693-1695)Ctc>Ttc p.L565F FNBP1L_uc001dpv.3_Missense_Mutation_p.L507F|FNBP1L_uc001dpw.3_Missense_Mutation_p.L507F|FNBP1L_uc010otl.2_Intron NM_001164473 NP_001157945 Q5T0N5 FBP1L_HUMAN Homo sapiens formin binding protein 1-like (FNBP1L), transcript variant 3, mRNA. 565 Interaction with DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1.|Interaction with DNM2 and WASL.|SH3. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane lipid binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1) 11 all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155) all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111) AGGTGAAGTTCTCTACATTAT 0.388000 18 7 0 0 0.003080 0 0 PAPPA2 60676 broad.mit.edu 37 1 176563949 176563949 + Nonsense_Mutation SNP C A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:176563949C>A uc001gkz.3 + 2 2373 c.1209C>A c.(1207-1209)tgC>tgA p.C403* PAPPA2_uc001gky.1_Nonsense_Mutation_p.C403*|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 403 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGGCATCTTGCCGCTCTTTGC 0.592000 89 24 1.55469e-16 2.20893e-16 0.003330 1 0 DSG1 1828 broad.mit.edu 37 18 28934552 28934552 + Missense_Mutation SNP C A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr18:28934552C>A uc002kwp.3 + 14 2605 c.2393C>A c.(2392-2394)cCa>cAa p.P798Q DSG1_uc010xbp.2_Missense_Mutation_p.P157Q NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 798 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) GGACACCCACCAATCTCCCCA 0.507000 108 10 4.68919e-08 6.58794e-08 0.008291 1 0 C1orf201 90529 broad.mit.edu 37 1 24685076 24685076 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:24685076G>A uc001bjc.3 - 8 1129 c.962C>T c.(961-963)tCc>tTc p.S321F GRHL3_uc021oiw.1_Intron|C1orf201_uc010oej.2_Silent_p.V107V|C1orf201_uc001bjb.3_Missense_Mutation_p.S229F|C1orf201_uc001bja.3_Missense_Mutation_p.S274F|C1orf201_uc001bjd.3_Missense_Mutation_p.S321F NM_001199013 NP_001185942 Q5TH74 CA201_HUMAN Homo sapiens chromosome 1 open reading frame 201 (C1orf201), transcript variant 1, mRNA. 321 breast(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 15 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145) GTAGAGGAAGGACTGCTTTCC 0.557000 76 8 0 0 0.004482 0 0 SLC22A8 9376 broad.mit.edu 37 11 62782326 62782326 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:62782326G>A uc009yon.3 - 1 226 c.105C>T c.(103-105)aaC>aaT p.N35N SLC22A8_uc009yom.3_Intron|SLC22A8_uc001nwo.3_Silent_p.N35N|SLC22A8_uc010rmm.2_Intron|SLC22A8_uc001nwp.2_Silent_p.N35N NM_001184732 NP_001171665 Q8TCC7 S22A8_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA. 35 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 TCTGCAGCAGGTTGTGGTTGG 0.617000 140 83 0 0 0.003610 0 0 EYA2 2139 broad.mit.edu 37 20 45700823 45700823 + Splice_Site SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr20:45700823G>A uc002xsm.3 + 6 790 c.416_splice c.e6-1 p.G139_splice EYA2_uc010ghp.3_Splice_Site_p.G139_splice|EYA2_uc002xsq.3_Splice_Site_p.G139_splice NM_005244 NP_005235 O00167 EYA2_HUMAN Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA. 139 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) CCTTCCCACAGGCACAACAGG 0.502000 20 20 0 0 0.008871 0 0 LRTM2 654429 broad.mit.edu 37 12 1943507 1943507 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:1943507G>A uc001qjt.2 + 4 1539 c.733G>A c.(733-735)Gag>Aag p.E245K CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.E245K|LRTM2_uc010sdx.1_Missense_Mutation_p.E245K|LRTM2_uc001qjv.2_Missense_Mutation_p.E7K NM_001039029 NP_001157398 Q8N967 LRTM2_HUMAN Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA. 245 LRRCT. integral to membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) GGTCCCCATGGAGATGTTCAA 0.592000 54 16 0 0 0.004990 0 0 LTF 4057 broad.mit.edu 37 3 46480832 46480832 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:46480832C>T uc003cpq.3 - 14 2104 c.1863G>A c.(1861-1863)cgG>cgA p.R621R LTF_uc003fzr.3_Silent_p.R577R|LTF_uc010hjh.3_Silent_p.R619R|LTF_uc003cpr.3_Silent_p.R608R NM_002343 NP_001186078 P02788 TRFL_HUMAN Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA. 621 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) CCTTATCCATCCGAGACACCA 0.552000 73 40 0 0 0.002852 0 0 APCDD1L 164284 broad.mit.edu 37 20 57042501 57042501 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr20:57042501G>A uc010zzp.1 - 3 759 c.435C>T c.(433-435)atC>atT p.I145I APCDD1L_uc002xze.1_Silent_p.I134I NM_153360 NP_699191 Q8NCL9 APCDL_HUMAN Homo sapiens adenomatosis polyposis coli down-regulated 1-like (APCDD1L), mRNA. 134 integral to membrane large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1) 18 Lung NSC(12;0.000856)|all_lung(29;0.0025) BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06) TGTGGAAGACGATGCCCACCT 0.751000 17 4 0 0 0.000248 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38673332 38673332 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:38673332G>A uc002ohk.3 + 15 4891 c.4382G>A c.(4381-4383)aGa>aAa p.R1461K NM_015073 NP_055888 O60292 SI1L3_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA. 1461 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) GGGTGGAAGAGAACGGAGGAG 0.637000 25 23 0 0 0.002299 0 0 TRPC6 7225 broad.mit.edu 37 11 101353770 101353770 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:101353770C>T uc001pgk.4 - 4 1845 c.1420G>A c.(1420-1422)Gaa>Aaa p.E474K TRPC6_uc009ywy.3_Missense_Mutation_p.E358K|TRPC6_uc009ywz.1_Missense_Mutation_p.E419K NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA. 474 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) GTGCTGGTTTCATTAGGAAGG 0.433000 66 29 0 0 0.006320 0 0 C1orf87 127795 broad.mit.edu 37 1 60499191 60499191 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:60499191C>T uc001czs.2 - 6 1094 c.986G>A c.(985-987)cGa>cAa p.R329Q NM_152377 NP_689590 Q8N0U7 CA087_HUMAN Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA. 329 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 ATCTTCTTTTCGAAAACTCAG 0.443000 68 21 0 0 0.002780 0 0 SERPINA6 866 broad.mit.edu 37 14 94770782 94770782 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:94770782G>A uc001ycv.3 - 4 1295 c.1191C>T c.(1189-1191)ttC>ttT p.F397F SERPINA6_uc010auv.3_Non-coding_Transcript NM_001756 NP_001747 P08185 CBG_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA. 397 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding p.L396P(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) CCCTCGCCAGGAAAAGGCTGC 0.527000 82 40 0 0 0.002522 0 0 CPT1A 1374 broad.mit.edu 37 11 68552315 68552315 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:68552315C>T uc001oog.4 - 9 1301 c.1131G>A c.(1129-1131)gaG>gaA p.E377E CPT1A_uc001oof.4_Silent_p.E377E NM_001876 NP_001867 P50416 CPT1A_HUMAN Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 377 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity p.E377*(1) NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) CCAGCCTGGCCTCCCCGGGCT 0.652000 49 19 0 0 0.001523 0 0 PMFBP1 83449 broad.mit.edu 37 16 72174407 72174407 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:72174407C>T uc002fcc.4 - 5 883 c.711G>A c.(709-711)gaG>gaA p.E237E PMFBP1_uc002fcd.3_Silent_p.E237E|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Silent_p.E92E NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. 237 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) GTTTCTGAGTCTCCTGATGCT 0.428000 124 76 0 0 0.003610 0 0 KIAA2018 205717 broad.mit.edu 37 3 113378005 113378005 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:113378005C>T uc003eam.3 - 6 2935 c.2524G>A c.(2524-2526)Gaa>Aaa p.E842K KIAA2018_uc003eal.3_Missense_Mutation_p.E786K NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN Homo sapiens KIAA2018 (KIAA2018), mRNA. 842 regulation of transcription, DNA-dependent membrane|nucleus DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 GGGAAGCTTTCTAGCAGTCCA 0.478000 48 9 0 0 0.004482 0 0 B3GAT1 27087 broad.mit.edu 37 11 134257506 134257506 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:134257506G>A uc001qhq.3 - 2 309 c.48C>T c.(46-48)ccC>ccT p.P16P B3GAT1_uc001qhr.3_Silent_p.P16P|B3GAT1_uc010scv.1_Silent_p.P29P NM_018644 NP_473366 Q9P2W7 B3GA1_HUMAN Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA. 16 carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) GCAGAGTCCAGGGCAGCACGA 0.627000 62 19 0 0 0.002299 0 0 SUSD2 56241 broad.mit.edu 37 22 24584256 24584256 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr22:24584256C>T uc002zzn.1 + 13 2449 c.2405C>T c.(2404-2406)gCg>gTg p.A802V NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN Homo sapiens sushi domain containing 2 (SUSD2), mRNA. 802 immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 GCGGCGGTTGCGCTCGTCTAT 0.677000 65 22 0 0 0.005443 0 0 TAS1R1 80835 broad.mit.edu 37 1 6631078 6631078 + Nonsense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:6631078C>T uc001ant.3 + 1 397 c.301C>T c.(301-303)Cag>Tag p.Q101* TAS1R1_uc001anu.3_Nonsense_Mutation_p.Q101*|TAS1R1_uc021ofp.1_Nonsense_Mutation_p.Q23* NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA. 101 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CCTGGGGTACCAGCTGTATGA 0.552000 106 49 0 0 0.003610 0 0 SLC9C1 285335 broad.mit.edu 37 3 111901021 111901021 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:111901021G>A uc003dyu.3 - 20 2830 c.2608C>T c.(2608-2610)Ccg>Tcg p.P870S SLC9C1_uc011bhu.2_Missense_Mutation_p.P133S|SLC9C1_uc010hqc.3_Missense_Mutation_p.P822S NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA. 870 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity TCTAGCCACGGAATATGATAT 0.259000 73 11 0 0 0.000978 0 0 ANKRD18A 253650 broad.mit.edu 37 9 38586224 38586224 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr9:38586224C>T uc004abg.4 - 11 2281 c.2203G>A c.(2203-2205)Gac>Aac p.D735N ANKRD18A_uc004abf.1_Missense_Mutation_p.D412N NM_147195 NP_671728 Q8IVF6 AN18A_HUMAN Homo sapiens ankyrin repeat domain 18A (ANKRD18A), mRNA. 735 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 16 TTCAGTTGGTCTGTATTTAAG 0.294000 6 5 0 0 0.001984 0 0 MPDZ 8777 broad.mit.edu 37 9 13138031 13138031 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr9:13138031G>A uc010mia.1 - 27 4182 c.4125C>T c.(4123-4125)gtC>gtT p.V1375V MPDZ_uc003zky.4_5'Flank|MPDZ_uc010mib.3_Silent_p.V80V|MPDZ_uc010mhx.3_Silent_p.V197V|MPDZ_uc011lmm.2_Silent_p.V234V|MPDZ_uc003zkz.4_Silent_p.V68V|MPDZ_uc010mhz.3_Silent_p.V1342V|MPDZ_uc011lmn.2_Silent_p.V1342V|MPDZ_uc010mhy.3_Silent_p.V1375V|MPDZ_uc003zlb.4_Silent_p.V1375V NM_003829 NP_003820 O75970 MPDZ_HUMAN Homo sapiens multiple PDZ domain protein (MPDZ), mRNA. 1375 PDZ 8. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) CCACTATGAAGACACTCATCC 0.443000 14 22 0 0 0.003330 0 0 BBOX1 8424 broad.mit.edu 37 11 27147337 27147337 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:27147337G>A uc001mre.1 + 7 1341 c.973G>A c.(973-975)Gaa>Aaa p.E325K BBOX1_uc009yih.1_Missense_Mutation_p.E325K|BBOX1_uc001mrg.1_Missense_Mutation_p.E325K|BBOX1_uc021qfd.1_Missense_Mutation_p.E325K NM_003986 NP_003977 O75936 BODG_HUMAN Homo sapiens butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 (BBOX1), mRNA. 325 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 Succinic acid(DB00139)|Vitamin C(DB00126) GAACAGCAAAGAATCCAAGTT 0.373000 41 5 0 0 0.003080 0 0 SLC44A2 57153 broad.mit.edu 37 19 10748390 10748390 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr19:10748390C>T uc002mpf.3 + 16 1801 c.1662C>T c.(1660-1662)ttC>ttT p.F554F SLC44A2_uc002mpe.4_Silent_p.F552F|SLC44A2_uc002mpg.1_Silent_p.F274F|SLC44A2_uc002mph.3_Silent_p.F103F|SLC44A2_uc002mpi.3_5'Flank NM_020428 NP_065161 Q8IWA5 CTL2_HUMAN Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA. 554 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) TGGAGAAGTTCATCAAATTCC 0.547000 52 42 0 0 0.003214 0 0 TMX3 54495 broad.mit.edu 37 18 66354939 66354939 + Missense_Mutation SNP A C C TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr18:66354939A>C uc002lkf.3 - 9 836 c.701T>G c.(700-702)aTg>aGg p.M234R TMX3_uc010xez.2_Missense_Mutation_p.M93R NM_019022 NP_061895 Q96JJ7 TMX3_HUMAN Homo sapiens thioredoxin-related transmembrane protein 3 (TMX3), mRNA. 234 cell redox homeostasis|glycerol ether metabolic process endoplasmic reticulum membrane|integral to membrane electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 17 GAAGCCATCCATAGCAAGGTA 0.338000 75 36 0 0 0.007835 0 0 INSRR 3645 broad.mit.edu 37 1 156815025 156815025 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:156815025G>A uc010pht.2 - 11 2579 c.2280C>T c.(2278-2280)ttC>ttT p.F760F NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN Homo sapiens insulin receptor-related receptor (INSRR), mRNA. 760 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCTGGATCTCGAAATCCGAGC 0.692000 20 7 0 0 0.001984 0 0 abParts 0 broad.mit.edu 37 15 22473081 22473081 + RNA SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr15:22473081C>T uc001yuj.2 - 6 c.247G>A Parts of antibodies, mostly variable regions. CACTCCAGCCCCTTCCCTGGG 0.572000 174 15 0 0 0.004990 0 0 ERN2 10595 broad.mit.edu 37 16 23722330 23722330 + Missense_Mutation SNP G A A rs139816512 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:23722330G>A uc002dma.4 - 1 416 c.247C>T c.(247-249)Ctc>Ttc p.L83F ERN2_uc010bxp.3_Missense_Mutation_p.L83F|ERN2_uc010bxq.1_5'UTR NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA. 35 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) TCTGGCCTGAGAGTATGAACC 0.577000 81 13 0 0 0.002450 0 0 PAK7 57144 broad.mit.edu 37 20 9546826 9546826 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr20:9546826G>A uc002wnl.2 - 5 1741 c.1196C>T c.(1195-1197)tCc>tTc p.S399F PAK7_uc002wnk.2_Missense_Mutation_p.S399F|PAK7_uc002wnj.2_Missense_Mutation_p.S399F|PAK7_uc010gby.1_Missense_Mutation_p.S399F NM_020341 NP_817127 Q9P286 PAK7_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA. 399 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GCTCAGGTAGGAAGCCGTGGA 0.602000 90 35 0 0 0.002836 0 0 CHST5 23563 broad.mit.edu 37 16 75564126 75564126 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:75564126G>A uc002fej.1 - 4 496 c.175C>T c.(175-177)Ccc>Tcc p.P59S CHST5_uc002fei.3_Missense_Mutation_p.P53S|CHST5_uc021tlk.1_Missense_Mutation_p.P53S NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA. 53 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 GGGGATGAGGGCCCTGGCCGG 0.662000 30 10 0 0 0.000978 0 0 SLC27A6 28965 broad.mit.edu 37 5 128321002 128321002 + Missense_Mutation SNP C T T rs151090767 byFrequency TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:128321002C>T uc003kuy.3 + 2 1054 c.658C>T c.(658-660)Ctt>Ttt p.L220F SLC27A6_uc003kuz.3_Missense_Mutation_p.L220F NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA. 220 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 p.C219R(1) 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) GTCTACTTGTCTTTACATTTT 0.423000 50 16 0 0 0.007413 0 0 CD7 924 broad.mit.edu 37 17 80274553 80274553 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:80274553G>A uc002kel.1 - 1 496 c.387C>T c.(385-387)gtC>gtT p.V129V CD7_uc010din.3_Silent_p.V129V|CD7_uc010wvk.1_Silent_p.V129V NM_006137 NP_006128 P09564 CD7_HUMAN Homo sapiens CD7 molecule (CD7), mRNA. 129 Ig-like. T cell activation|immune response|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|membrane fraction|plasma membrane receptor activity endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667) CTGTCACCAGGACCAGGGTGC 0.652000 115 18 0 0 0.008871 0 0 RNF112 7732 broad.mit.edu 37 17 19316290 19316290 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:19316290C>T uc010vyw.2 + 3 652 c.421C>T c.(421-423)Cgc>Tgc p.R141C RNF112_uc010vyu.2_Missense_Mutation_p.R141C|RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Intron NM_007148 NP_009079 Q7Z5V9 Q7Z5V9_HUMAN Homo sapiens ring finger protein 112 (RNF112), mRNA. 141 GTP binding|GTPase activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 GCTGCTGGTTCGCATCAATGC 0.647000 19 5 0 0 0.000602 0 0 PREX2 80243 broad.mit.edu 37 8 68989661 68989661 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:68989661G>A uc003xxv.1 + 14 1626 c.1599G>A c.(1597-1599)atG>atA p.M533I PREX2_uc003xxu.1_Missense_Mutation_p.M533I|PREX2_uc011lez.1_Missense_Mutation_p.M468I NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 533 DEP 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AAGAGGCAATGATATTTGGCG 0.438000 82 31 0 0 0.004878 0 0 PLXNA4 91584 broad.mit.edu 37 7 131866252 131866252 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:131866252G>A uc003vra.4 - 17 3609 c.3380C>T c.(3379-3381)tCc>tTc p.S1127F NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 1127 IPT/TIG 3. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GATGAGCAGGGACTGGACGTT 0.602000 105 46 0 0 0.003610 0 0 RASSF2 9770 broad.mit.edu 37 20 4776474 4776475 + Silent DNP GG AA AA TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr20:4776474_4776475GG>AA uc002wld.3 - 3 327_328 c.273_274CC>TT c.(271-276)aacctg>aaTTtg p.91_92NL>NL RASSF2_uc002wlc.3_5'Flank|RASSF2_uc002wlf.3_Silent_p.91_92NL>NL NM_170774 NP_739580 P50749 RASF2_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA. 91 cell cycle|signal transduction nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 TGAGCCCCCAGGTTACAGCCAG 0.594000 104 42 0 0 0.004672 0 0 EOMES 8320 broad.mit.edu 37 3 27759217 27759217 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr3:27759217G>A uc003cdy.3 - 5 1462 c.1462C>T c.(1462-1464)Cgg>Tgg p.R488W EOMES_uc003cdx.3_Missense_Mutation_p.R469W|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.R193W NM_005442 NP_005433 O95936 EOMES_HUMAN Homo sapiens eomesodermin (EOMES), mRNA. 469 CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.R469W(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1) 21 ACGCCGTACCGACCTCCAGGG 0.493000 46 20 0 0 0.008871 0 0 RRBP1 6238 broad.mit.edu 37 20 17640802 17640802 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr20:17640802G>A uc002wpw.1 - 1 628 c.351C>T c.(349-351)atC>atT p.I117I RRBP1_uc002wpu.3_5'Flank|RRBP1_uc010gcl.1_Intron|RRBP1_uc002wpv.1_Silent_p.I117I|RRBP1_uc021waw.1_Silent_p.I117I|RRBP1_uc010zrq.1_Silent_p.I117I|RRBP1_uc010zrr.1_Silent_p.I117I NM_004587 NP_004578 Q9P2E9 RRBP1_HUMAN Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA. 565 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 CAGGAGCAACGATAATGGGGG 0.572000 37 13 0 0 0.003163 0 0 MPPED1 758 broad.mit.edu 37 22 43821049 43821049 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr22:43821049C>T uc011apz.2 + 1 498 c.157C>T c.(157-159)Ccc>Tcc p.P53S MPPED1_uc011apv.2_Missense_Mutation_p.P20S|MPPED1_uc011apw.2_Intron|MPPED1_uc011apx.2_Intron|MPPED1_uc011apy.2_Missense_Mutation_p.P20S NM_001044370 NP_001037835 O15442 MPPD1_HUMAN Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA. 20 hydrolase activity endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) GGCCCTCCTCCCCTGCGGCCT 0.701000 22 9 0 0 0.004482 0 0 ZNF423 23090 broad.mit.edu 37 16 49670785 49670785 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:49670785G>A uc002efs.3 - 4 2576 c.2278C>T c.(2278-2280)Cgc>Tgc p.R760C ZNF423_uc010vgn.2_Missense_Mutation_p.R643C NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN Homo sapiens zinc finger protein 423 (ZNF423), mRNA. 760 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.R760C(6)|p.F759F(1) 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) GCCTCCTTGCGGAAGTCCCAG 0.597000 27 15 0 0 0.002450 0 0 FAM179A 165186 broad.mit.edu 37 2 29225560 29225560 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:29225560G>A uc010ezl.3 + 4 937 c.586G>A c.(586-588)Gac>Aac p.D196N FAM179A_uc010ymm.2_Missense_Mutation_p.D196N NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA. 196 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GAAGGGCCTGGACCTACCGGG 0.622000 32 11 0 0 0.001368 0 0 UBTD2 92181 broad.mit.edu 37 5 171639076 171639076 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:171639076G>A uc003mbp.1 - 2 589 c.463C>T c.(463-465)Cgt>Tgt p.R155C NM_152277 NP_689490 Q8WUN7 UBTD2_HUMAN Homo sapiens ubiquitin domain containing 2 (UBTD2), mRNA. 155 Ubiquitin-like. cytoplasm cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1) 10 Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGGCGCAAACGAAGCTGACAT 0.498000 122 31 0 0 0.003755 0 0 PDCD11 22984 broad.mit.edu 37 10 105200065 105200065 + Missense_Mutation SNP C A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:105200065C>A uc001kwy.1 + 28 4254 c.4167C>A c.(4165-4167)aaC>aaA p.N1389K NM_014976 NP_055791 Q14690 RRP5_HUMAN Homo sapiens programmed cell death 11 (PDCD11), mRNA. 1389 S1 motif 12. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) ACCAGAAGAACCTGGTAGAGC 0.522000 114 54 5.52965e-18 7.87442e-18 0.003610 1 0 USP26 83844 broad.mit.edu 37 X 132161573 132161573 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:132161573C>T uc011mvf.2 - 0 728 c.676G>A c.(676-678)Gag>Aag p.E226K USP26_uc010nrm.1_Missense_Mutation_p.E226K NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA. 226 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) TCTTCTAACTCTTTTAACTTC 0.363000 12 17 0 0 0.004990 0 0 NLRP3 114548 broad.mit.edu 37 1 247588398 247588398 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:247588398G>A uc001icr.3 + 4 1791 c.1653G>A c.(1651-1653)ttG>ttA p.L551L NLRP3_uc001ics.3_Silent_p.L551L|NLRP3_uc001icu.3_Silent_p.L551L|NLRP3_uc001icw.3_Silent_p.L551L|NLRP3_uc001icv.3_Silent_p.L551L|NLRP3_uc010pyw.2_Silent_p.L549L|NLRP3_uc001ict.1_Silent_p.L549L NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 551 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GGAGTCGTTTGAAGCTTCCCA 0.473000 30 13 0 0 0.001368 0 0 CACNA1C 775 broad.mit.edu 37 12 2787022 2787022 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:2787022G>A uc009zdu.1 + 42 5537 c.5224G>A c.(5224-5226)Gac>Aac p.D1742N CACNA1C_uc001qkc.2_Missense_Mutation_p.D1713N|CACNA1C_uc001qjz.2_Missense_Mutation_p.D1694N|CACNA1C_uc001qkd.2_Missense_Mutation_p.D1713N|CACNA1C_uc001qke.2_Missense_Mutation_p.D1683N|CACNA1C_uc001qkf.2_Missense_Mutation_p.D1702N|CACNA1C_uc009zdw.1_Missense_Mutation_p.D1735N|CACNA1C_uc001qkg.2_Missense_Mutation_p.D1700N|CACNA1C_uc001qkh.2_Missense_Mutation_p.D1702N|CACNA1C_uc001qkl.2_Missense_Mutation_p.D1742N|CACNA1C_uc001qkj.2_Missense_Mutation_p.D1694N|CACNA1C_uc001qkk.2_Missense_Mutation_p.D1694N|CACNA1C_uc001qkn.2_Missense_Mutation_p.D1694N|CACNA1C_uc001qkm.2_Missense_Mutation_p.D1683N|CACNA1C_uc001qko.2_Missense_Mutation_p.D1714N|CACNA1C_uc001qkp.2_Missense_Mutation_p.D1694N|CACNA1C_uc001qkq.2_Missense_Mutation_p.D1722N|CACNA1C_uc001qku.2_Missense_Mutation_p.D1694N|CACNA1C_uc001qkr.2_Missense_Mutation_p.D1711N|CACNA1C_uc001qks.2_Missense_Mutation_p.D1694N|CACNA1C_uc001qkt.2_Missense_Mutation_p.D1713N|CACNA1C_uc009zdv.1_Missense_Mutation_p.D1691N|CACNA1C_uc001qkb.2_Missense_Mutation_p.D1694N|CACNA1C_uc001qki.1_Missense_Mutation_p.D1430N|CACNA1C_uc010sea.1_Missense_Mutation_p.D385N|AK093746_uc001qkx.1_Non-coding_Transcript|CACNA1C_uc001qky.1_Missense_Mutation_p.D12N NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 1742 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TTCTGAAGATGACATCTTCAG 0.592000 73 32 0 0 0.003755 0 0 SERPINA12 145264 broad.mit.edu 37 14 94962888 94962888 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:94962888G>A uc001ydj.3 - 3 1523 c.727C>T c.(727-729)Cgt>Tgt p.R243C NM_173850 NP_776249 Q8IW75 SPA12_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA. 243 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.R243C(2) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) ATGCCACTACGGAACATCATG 0.418000 163 51 0 0 0.003610 0 0 ELOVL3 83401 broad.mit.edu 37 10 103988322 103988322 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:103988322C>T uc001kut.3 + 2 545 c.382C>T c.(382-384)Ctc>Ttc p.L128F NM_152310 NP_689523 Q9HB03 ELOV3_HUMAN Homo sapiens ELOVL fatty acid elongase 3 (ELOVL3), mRNA. 128 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding p.L128L(1) breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1) 16 Colorectal(252;0.207) Epithelial(162;4.47e-08)|all cancers(201;7.96e-07) GGTCATAGAACTCGGTGAGTG 0.512000 67 40 0 0 0.003610 0 0 HYDIN 54768 broad.mit.edu 37 16 71065807 71065807 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:71065807G>A uc002ezr.3 - 18 2694 c.2543C>T c.(2542-2544)tCc>tTc p.S848F HYDIN_uc010cfz.2_Missense_Mutation_p.S593F|HYDIN_uc021tkq.1_Missense_Mutation_p.S848F|HYDIN_uc010vmc.2_Missense_Mutation_p.S865F|HYDIN_uc010vmd.2_Missense_Mutation_p.S875F NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 848 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CGTCCAAAGGGATTTTTTGTG 0.438000 38 6 0 0 0.006214 0 0 NUMA1 4926 broad.mit.edu 37 11 71724032 71724032 + Missense_Mutation SNP T C C TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:71724032T>C uc001orl.1 - 14 4689 c.4517A>G c.(4516-4518)gAg>gGg p.E1506G NUMA1_uc009ysw.1_Missense_Mutation_p.E1069G|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.E1506G|NUMA1_uc001orn.2_Missense_Mutation_p.E1069G|NUMA1_uc009ysx.1_Missense_Mutation_p.E1506G|NUMA1_uc001oro.1_Missense_Mutation_p.E1506G NM_006185 NP_006176 Q14980 NUMA1_HUMAN Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA. 1506 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 AGTCATCACCTCCAGCTCCCG 0.592000 T RARA APL 40 24 0 0 0.003954 0 0 MYH2 4620 broad.mit.edu 37 17 10429959 10429959 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:10429959C>T uc010coi.3 - 29 4272 c.4144G>A c.(4144-4146)Gag>Aag p.E1382K AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1382K|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1382 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.Y1381C(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCGTCCGTCTCGTATTTGGTC 0.532000 118 63 0 0 0.003610 0 0 CEP164 22897 broad.mit.edu 37 11 117253607 117253607 + Missense_Mutation SNP A T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:117253607A>T uc001prc.3 + 13 1820 c.1673A>T c.(1672-1674)gAt>gTt p.D558V CEP164_uc001prb.3_Missense_Mutation_p.D561V|CEP164_uc010rxk.1_Missense_Mutation_p.D532V|CEP164_uc001prf.3_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_5'Flank NM_014956 NP_055771 Q9UPV0 CE164_HUMAN Homo sapiens centrosomal protein 164kDa (CEP164), mRNA. 558 Glu-rich. DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) GAGGCAGAGGATCCTGAGGAG 0.647000 37 17 0 0 0.004007 0 0 C14orf102 55051 broad.mit.edu 37 14 90756749 90756749 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:90756749G>A uc001xyi.2 - 9 2278 c.2045C>T c.(2044-2046)cCt>cTt p.P682L C14orf102_uc010atp.1_Missense_Mutation_p.P187L|C14orf102_uc001xyj.2_Missense_Mutation_p.P451L NM_017970 NP_060440 Q9H7Z3 CN102_HUMAN Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA. 682 protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1) 39 all_cancers(154;0.118) COAD - Colon adenocarcinoma(157;0.218) AGAAAACAAAGGGTTGAAAAA 0.502000 28 15 0 0 0.004007 0 0 NLGN2 57555 broad.mit.edu 37 17 7311998 7311998 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:7311998C>T uc002ggt.1 + 0 497 c.424C>T c.(424-426)Ctg>Ttg p.L142L NM_020795 NP_065846 Q8NFZ4 NLGN2_HUMAN Homo sapiens neuroligin 2 (NLGN2), mRNA. 142 cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3) 22 Prostate(122;0.157) CGAGGACTGCCTGTACCTCAA 0.652000 21 12 0 0 0.001855 0 0 ORC6 23594 broad.mit.edu 37 16 46726457 46726457 + Splice_Site SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:46726457G>A uc002eeh.3 + 3 419 c.359_splice c.e3+1 p.S120_splice ORC6_uc002eeg.1_Splice_Site_p.S120_splice|ORC6_uc010cbe.2_Splice_Site_p.S71_splice|ORC6_uc021thp.1_Splice_Site_p.S71_splice NM_014321 NP_055136 Q9Y5N6 ORC6_HUMAN Homo sapiens origin recognition complex, subunit 6 (ORC6), transcript variant 1, mRNA. 120 DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint nuclear origin of replication recognition complex|nucleoplasm DNA binding|protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 8 ATACTAAAAAGGTATGGGGCA 0.448000 62 34 0 0 0.002096 0 0 EPC2 26122 broad.mit.edu 37 2 149528411 149528412 + Missense_Mutation DNP TT AA AA TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr2:149528411_149528412TT>AA uc010zbt.2 + 8 1308_1309 c.1281_1282TT>AA c.(1279-1284)gatttg>gaAAtg p.427_428DL>EM NM_015630 NP_056445 Q52LR7 EPC2_HUMAN Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA. 427 DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) AATTGGCAGATTTGGATAAGTT 0.396000 75 26 0 0 0.004672 0 0 SLC15A3 51296 broad.mit.edu 37 11 60708634 60708634 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:60708634C>T uc001nqn.2 - 4 1470 c.1236G>A c.(1234-1236)gcG>gcA p.A412A SLC15A3_uc001nqo.2_Intron NM_016582 NP_057666 Q8IY34 S15A3_HUMAN Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA. 412 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2) 17 ACATCCCCAGCGCCATCTTCT 0.572000 15 5 0 0 0.001168 0 0 DNAH8 1769 broad.mit.edu 37 6 38851680 38851680 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr6:38851680G>A uc021yzh.1 + 55 8274 c.8165G>A c.(8164-8166)cGa>cAa p.R2722Q DNAH8_uc003ooe.2_Missense_Mutation_p.R2505Q NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GTGGATAAGCGAATTGGAAGC 0.363000 60 39 0 0 0.006230 0 0 CDH16 1014 broad.mit.edu 37 16 66946011 66946011 + Silent SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr16:66946011C>T uc002eql.3 - 12 1775 c.1581G>A c.(1579-1581)gaG>gaA p.E527E CDH16_uc010cdy.3_Silent_p.E527E|CDH16_uc021tjx.1_Silent_p.E527E|CDH16_uc002eqm.3_Silent_p.E430E NM_004062 NP_004053 O75309 CAD16_HUMAN Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA. 527 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) CCACCACCACCTCATGACTTG 0.627000 55 6 0 0 0.001984 0 0 SPAM1 6677 broad.mit.edu 37 7 123594436 123594436 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:123594436C>T uc003vle.3 + 2 1251 c.812C>T c.(811-813)cCt>cTt p.P271L SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.P271L|SPAM1_uc022aks.1_Missense_Mutation_p.P271L|SPAM1_uc003vlf.4_Missense_Mutation_p.P271L|SPAM1_uc010lku.3_Missense_Mutation_p.P271L NM_003117 NP_003108 P38567 HYALP_HUMAN Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA. 271 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) CAGCAGTCTCCTGTAGCTGCT 0.418000 79 42 0 0 0.002522 0 0 MUC17 140453 broad.mit.edu 37 7 100685825 100685825 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:100685825G>A uc003uxp.1 + 2 11181 c.11128G>A c.(11128-11130)Gag>Aag p.E3710K MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 3710 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GACCAGCTCTGAGGGTAGCAC 0.507000 137 59 0 0 0.003610 0 0 KNDC1 85442 broad.mit.edu 37 10 135025336 135025336 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:135025336C>T uc001llz.1 + 22 4211 c.4210C>T c.(4210-4212)Ctc>Ttc p.L1404F NM_152643 NP_689856 Q76NI1 VKIND_HUMAN Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA. 1404 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CTGTAAGAGGCTCTCAGAGGA 0.652000 34 7 0 0 0.001984 0 0 GRAP2 9402 broad.mit.edu 37 22 40364204 40364204 + Missense_Mutation SNP A C C TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr22:40364204A>C uc003ayh.2 + 5 881 c.618A>C c.(616-618)caA>caC p.Q206H GRAP2_uc011aom.2_Missense_Mutation_p.Q180H|GRAP2_uc011aon.2_Missense_Mutation_p.Q140H|GRAP2_uc010gya.2_Missense_Mutation_p.Q206H|GRAP2_uc011aoo.2_Missense_Mutation_p.Q134H|GRAP2_uc011aop.2_Missense_Mutation_p.Q166H|GRAP2_uc011aoq.2_Missense_Mutation_p.Q93H|GRAP2_uc003ayj.2_Missense_Mutation_p.Q206H NM_004810 NP_004801 O75791 GRAP2_HUMAN Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA. 206 Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway|cell-cell signaling cytosol SH3/SH2 adaptor activity p.P205L(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 agcctccgcaatatgccccag 0.617000 7 5 0 0 0.000602 0 0 SAMD12 401474 broad.mit.edu 37 8 119593128 119593128 + Silent SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr8:119593128G>A uc003yom.2 - 1 147 c.18C>T c.(16-18)ctC>ctT p.L6L SAMD12_uc010mda.1_Silent_p.L6L|SAMD12_uc010mdb.1_Non-coding_Transcript NM_207506 NP_997389 Q8N8I0 SAM12_HUMAN Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA. 6 endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2) 9 all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249) STAD - Stomach adenocarcinoma(47;0.00391) AACCACAGTGGAGAGCTAGGA 0.393000 26 8 0 0 0.004482 0 0 UCHL1 7345 broad.mit.edu 37 4 41262768 41262768 + Silent SNP C T T rs121917767 TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr4:41262768C>T uc003gvo.3 + 3 375 c.279C>T c.(277-279)atC>atT p.I93I UCHL1_uc003gvp.3_Silent_p.I12I NM_004181 NP_004172 P09936 UCHL1_HUMAN Homo sapiens ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) (UCHL1), mRNA. 93 I -> M (in PARK5; impaired enzymatic hydrolase activity; has about a 50% reduction in catalytic activity compared to wild-type protein). cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus|plasma membrane alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2) 8 GTGGCACAATCGGACTTATTC 0.443000 108 40 0 0 0.002222 0 0 ASXL3 80816 broad.mit.edu 37 18 31324855 31324855 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr18:31324855G>A uc010dmg.1 + 11 5098 c.5043G>A c.(5041-5043)atG>atA p.M1681I ASXL3_uc002kxq.2_Missense_Mutation_p.M1388I NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 1681 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GCTTTAGAATGGACACTGAAG 0.483000 81 11 0 0 0.000978 0 0 SYCP1 6847 broad.mit.edu 37 1 115527450 115527450 + Missense_Mutation SNP T G G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr1:115527450T>G uc001efr.3 + 29 2873 c.2664T>G c.(2662-2664)ttT>ttG p.F888L SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.F888L|SYCP1_uc009wgw.3_Missense_Mutation_p.F863L NM_003176 NP_003167 Q15431 SYCP1_HUMAN Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA. 888 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CCTTTGAATTTGATATTAATT 0.244000 82 26 0 0 0.007291 0 0 PCSK5 5125 broad.mit.edu 37 9 78848417 78848417 + Nonsense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr9:78848417G>A uc004akc.2 + 21 3309 c.2771G>A c.(2770-2772)tGg>tAg p.W924* NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 625 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TGCCCCTCATGGAAATTTGAA 0.502000 25 22 0 0 0.002299 0 0 abParts 0 broad.mit.edu 37 14 107183413 107183413 + RNA SNP C A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr14:107183413C>A uc021ser.1 - 32 c.2119G>T Parts of antibodies, mostly variable regions. CACAGTAATACACGGCCGTGT 0.562000 193 10 3.07112e-06 4.30025e-06 0.000978 1 0 PCDHAC2 56134 broad.mit.edu 37 5 140237633 140237633 + Missense_Mutation SNP C T T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr5:140237633C>T uc003lhx.2 + 0 2000 c.2000C>T c.(1999-2001)tCg>tTg p.S667L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Missense_Mutation_p.S667L NM_018901 NP_061724 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA. 679 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCTTGTGTCGCTTGTGGAG 0.667000 22 7 0 0 0.001984 0 0 SMURF2 64750 broad.mit.edu 37 17 62594596 62594596 + Missense_Mutation SNP G A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr17:62594596G>A uc002jep.1 - 2 492 c.104C>T c.(103-105)cCa>cTa p.P35L SMURF2_uc002jeq.1_5'UTR|SMURF2_uc002jer.1_5'UTR NM_022739 NP_073576 Q9HAU4 SMUF2_HUMAN Homo sapiens SMAD specific E3 ubiquitin protein ligase 2 (SMURF2), mRNA. 35 C2. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex SMAD binding|identical protein binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4) 22 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) CTTAGCAAATGGATCAGGAAG 0.343000 66 14 0 0 0.002450 0 0 POM121 9883 broad.mit.edu 37 7 72413723 72413724 + In_Frame_Ins INS - CTC CTC rs67569765 byFrequency TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr7:72413723_72413724insCTC uc003twk.2 + 10 3191_3192 c.3191_3192insCTC c.(3190-3192)ttc>ttCTCc p.1064_1065insS POM121_uc003twj.3_In_Frame_Ins_p.799_800insS|POM121_uc010lam.1_In_Frame_Ins_p.799_800insS NM_172020 NP_742017 Q96HA1 P121A_HUMAN Homo sapiens POM121 membrane glycoprotein (POM121), mRNA. 1064 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) ACTGCTGTCTTCTTCGGTGCAG 0.663 --- 79 --- --- 9 --- AGAP4 119016 broad.mit.edu 37 10 46342668 46342688 + In_Frame_Del DEL GCTCCTGCCATCCTGTCCCCA - - TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA uc001jcx.4 - 0 234_254 c.108_128delTGGGGACAGGATGGCAGGAGC c.(106-129)gctggggacaggatggcaggagcg>gcg p.36_43AGDRMAGA>A AGAP4_uc021pps.1_In_Frame_Del_p.36_43AGDRMAGA>A|AGAP4_uc010qfl.2_In_Frame_Del_p.36_43AGDRMAGA>A|AGAP4_uc001jcy.4_5'UTR NM_133446 NP_597703 Q96P64 AGAP4_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 (AGAP4), mRNA. 36 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.G37_A43delGDRMAGA(2) central_nervous_system(1)|lung(1)|ovary(1) 3 AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT 0.588 --- 5 --- --- 4 --- MLL 4297 broad.mit.edu 37 11 118344862 118344877 + Frame_Shift_Del DEL TAGCACTGTTAAACAT - - TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr11:118344862_118344877delTAGCACTGTTAAACAT uc001pta.3 + 2 3011_3026 c.2988_3003delTAGCACTGTTAAACAT c.(2986-3003)tctagcactgttaaacatfs p.S996fs MLL_uc001ptb.3_Frame_Shift_Del_p.S996fs|MLL_uc001psz.1_Frame_Shift_Del_p.S1029fs|MLL_uc001ptd.1_Intron NM_005933 NP_005924 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA. 996 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CTCCTTCATCTAGCACTGTTAAACATTCCACTTCCT 0.505 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" --- 89 --- --- 15 --- KDM2B 84678 broad.mit.edu 37 12 121986849 121986850 + Frame_Shift_Ins INS - CTGGA CTGGA TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chr12:121986849_121986850insCTGGA uc001uat.3 - 5 719_720 c.615_616insTCCAG c.(613-618)cagcatfs p.Q205fs KDM2B_uc001uas.3_Frame_Shift_Ins_p.Q174fs|KDM2B_uc021rfd.1_Frame_Shift_Ins_p.Q174fs|KDM2B_uc001uau.3_Frame_Shift_Ins_p.Q88fs|KDM2B_uc021rfe.1_Frame_Shift_Ins_p.Q205fs|KDM2B_uc001uav.4_Frame_Shift_Ins_p.Q205fs NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA. 205 JmjC. embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding p.Q205Q(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 TCCTTCAGATGCTGGGGCCACA 0.550 --- 108 --- --- 12 --- ZFX 7543 broad.mit.edu 37 X 24225549 24225550 + Frame_Shift_Ins INS - A A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 490fe6c8-d3e9-4713-a48b-cdd7496b37a7 b6aea399-b2ad-4f01-8a64-0539f2b49dd2 g.chrX:24225549_24225550insA uc011mjv.2 + 5 1119_1120 c.870_871insA c.(868-873)atcaagfs p.I290fs ZFX_uc004dbd.2_Frame_Shift_Ins_p.I251fs|ZFX_uc004dbf.3_Frame_Shift_Ins_p.I251fs|ZFX_uc004dbe.3_Frame_Shift_Ins_p.I251fs|ZFX_uc022bua.1_Frame_Shift_Ins_p.I251fs|ZFX_uc010nfx.2_Frame_Shift_Ins_p.I22fs|ZFX_uc010nfy.1_Intron|ZFX_uc010nfz.3_5'Flank NM_001178086 NP_001171557 P17010 ZFX_HUMAN Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA. 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 CTGAGGTCATCAAGGTGTACAT 0.416 --- 34 --- --- 55 ---