Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut CHD1L 9557 broad.mit.edu 37 1 146747865 146747865 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:146747865G>C ENST00000369258.4 + 14 1503 c.1483G>C c.(1483-1485)Gaa>Caa p.E495Q CHD1L_ENST00000431239.1_Missense_Mutation_p.E401Q|CHD1L_ENST00000361293.5_Missense_Mutation_p.E214Q|CHD1L_ENST00000369259.3_Missense_Mutation_p.E291Q|CHD1L_ENST00000467213.1_3'UTR NM_001256336.1|NM_004284.4|NM_024568.2 NP_001243265.1|NP_004275.4|NP_078844.2 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 1-like 495 Helicase C-terminal. chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(923;0.0487) CATGATCATAGAAGGAGGCCA 0.453000 6 102 0 0 0.001168 0 0 GNAL 2774 broad.mit.edu 37 18 11868555 11868555 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr18:11868555C>T ENST00000334049.6 + 9 1532 c.924C>T c.(922-924)atC>atT p.I308I GNAL_ENST00000423027.3_Silent_p.I231I|GNAL_ENST00000269162.5_Silent_p.I231I|GNAL_ENST00000602628.1_Silent_p.I24I|GNAL_ENST00000535121.1_Silent_p.I231I|GNAL_ENST00000535980.1_3'UTR NM_182978.3 NP_892023.1 P38405 GNAL_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 231 activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission heterotrimeric G-protein complex adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1) 12 TCACAGCTATCATTTACGTCG 0.463000 11 223 0 0 0.010729 0 0 LAMA5 3911 broad.mit.edu 37 20 60887107 60887107 + Splice_Site SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:60887107C>T ENST00000252999.3 - 70 9571 c.e70-1 NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATAGCCCATCCTGGGGACGGC 0.672000 21 23 0 0 0.012319 0 0 FAM63A 55793 broad.mit.edu 37 1 150974945 150974945 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:150974945C>A ENST00000361936.5 - 3 1103 c.149G>T c.(148-150)cGg>cTg p.R50L FAM63A_ENST00000361738.6_Missense_Mutation_p.R98L|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000312210.5_Intron NM_018379.4 NP_060849.2 Q8N5J2 FA63A_HUMAN family with sequence similarity 63, member A 50 protein binding p.R50Q(1) breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TGCTGGCTCCCGTTCTCTAGC 0.592000 20 248 7.45023e-12 9.58621e-12 0.010504 1 0 IGKV3-11 28914 broad.mit.edu 37 2 89326800 89326800 + RNA SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:89326800T>C ENST00000483158.1 - 0 259 CCCTGTTGGATGCATCATAGA 0.572000 26 94 0 0 0.004656 0 0 SI 6476 broad.mit.edu 37 3 164750444 164750444 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:164750444G>T ENST00000264382.3 - 24 2664 c.2602C>A c.(2602-2604)Cag>Aag p.Q868K NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 868 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|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) GTTCCTTCCTGATATGATGAA 0.343000 HNSCC(35;0.089) 16 21 2.35188e-11 2.98493e-11 0.006122 1 0 LTBP1 4052 broad.mit.edu 37 2 33246136 33246136 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:33246136G>T ENST00000404816.2 + 3 1079 c.726G>T c.(724-726)tgG>tgT p.W242C LTBP1_ENST00000354476.3_Missense_Mutation_p.W242C Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 242 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CTTCCTCGTGGGGCCCTCCTG 0.562000 65 83 6.1719e-39 9.86709e-39 0.014410 1 0 ZNF200 7752 broad.mit.edu 37 16 3274518 3274518 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:3274518C>T ENST00000431561.3 - 5 1174 c.562G>A c.(562-564)Gat>Aat p.D188N ZNF200_ENST00000396871.4_Missense_Mutation_p.D187N|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000414144.2_Missense_Mutation_p.D188N|ZNF200_ENST00000396868.3_Missense_Mutation_p.D187N|ZNF200_ENST00000396870.4_Missense_Mutation_p.D187N|ZNF200_ENST00000575948.1_Missense_Mutation_p.D187N NM_001145447.1|NM_003454.3 NP_001138919.1|NP_003445.2 P98182 ZN200_HUMAN zinc finger protein 200 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 17 AAGGAAGAATCCATTTCATCA 0.398000 34 57 0 0 0.003755 0 0 CXorf38 159013 broad.mit.edu 37 X 40498350 40498350 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:40498350G>T ENST00000378426.1 - 2 622 c.25C>A c.(25-27)Caa>Aaa p.Q9K CXorf38_ENST00000440784.2_Intron|CXorf38_ENST00000327877.5_Missense_Mutation_p.Q128K|CXorf38_ENST00000378421.1_Missense_Mutation_p.Q9K Q8TB03 CX038_HUMAN chromosome X open reading frame 38 128 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 12 TCAGGTCCTTGTTTGTCTGCT 0.498000 13 75 6.72482e-11 8.42016e-11 0.003163 1 0 DCST2 127579 broad.mit.edu 37 1 155004083 155004083 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:155004083G>A ENST00000368424.3 - 4 764 c.706C>T c.(706-708)Ccc>Tcc p.P236S DCST2_ENST00000295536.5_Missense_Mutation_p.P236S NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 236 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 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) AGTTTGAAGGGCATGAGCACG 0.592000 32 76 0 0 0.003755 0 0 OR2B6 26212 broad.mit.edu 37 6 27925284 27925284 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:27925284G>A ENST00000244623.1 + 1 266 c.266G>A c.(265-267)aGg>aAg p.R89K NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TGCAGCATCAGGAAAGTAATC 0.428000 30 16 0 0 0.008361 0 0 TEX13A 56157 broad.mit.edu 37 X 104463830 104463830 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:104463830G>T ENST00000372578.3 - 3 1159 c.1048C>A c.(1048-1050)Ccc>Acc p.P350T IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.P349H|TEX13A_ENST00000372575.1_Missense_Mutation_p.P350T|IL1RAPL2_ENST00000372582.1_Intron NM_031274.3 NP_112564.1 Q9BXU3 TX13A_HUMAN testis expressed 13A 0 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 TATTCTGTGGGGCCCCCCATC 0.567000 46 26 5.34276e-22 7.89752e-22 0.014410 1 0 DCX 1641 broad.mit.edu 37 X 110654066 110654066 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:110654066A>G ENST00000338081.3 - 1 308 c.137T>C c.(136-138)gTt>gCt p.V46A DCX_ENST00000356220.3_Intron|DCX_ENST00000496551.1_Intron|DCX_ENST00000371993.2_Intron|DCX_ENST00000488120.1_Intron|DCX_ENST00000356915.2_Intron NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 46 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 CACATGACTAACAGTTGTAAA 0.428000 107 64 0 0 0.014410 0 0 XPC 7508 broad.mit.edu 37 3 14220052 14220052 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:14220052G>C ENST00000285021.7 - 1 231 c.17C>G c.(16-18)gCg>gGg p.A6G LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Missense_Mutation_p.A6G NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 6 nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CCCGCCGGCCGCGCGTTTCCG 0.701000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 5 37 0 0 0.000602 0 0 PTPRM 5797 broad.mit.edu 37 18 7888335 7888335 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr18:7888335C>A ENST00000332175.8 + 3 1465 c.428C>A c.(427-429)gCa>gAa p.A143E PTPRM_ENST00000580170.1_Missense_Mutation_p.A143E|PTPRM_ENST00000400053.4_Missense_Mutation_p.A81E|PTPRM_ENST00000400060.4_Missense_Mutation_p.A143E NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 143 MAM. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) TGGAACAGGGCAGAACTGGCC 0.403000 7 145 5.4927e-09 6.55779e-09 0.004482 1 0 ADCY6 112 broad.mit.edu 37 12 49164737 49164737 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:49164737C>A ENST00000307885.4 - 19 3762 c.3068G>T c.(3067-3069)cGg>cTg p.R1023L ADCY6_ENST00000357869.3_Missense_Mutation_p.R970L|ADCY6_ENST00000550422.1_Missense_Mutation_p.R970L NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 1023 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 CTGCCGGAACCGCTCCTCGCT 0.577000 14 24 1.05317e-09 1.28414e-09 0.002450 1 0 ZNF74 7625 broad.mit.edu 37 22 20760750 20760750 + Missense_Mutation SNP A A C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr22:20760750A>C ENST00000400451.2 + 5 1941 c.1427A>C c.(1426-1428)gAg>gCg p.E476A ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.E476A|ZNF74_ENST00000405993.1_Missense_Mutation_p.E444A NM_003426.3 NP_003417.2 Q16587 ZNF74_HUMAN zinc finger protein 74 476 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) AAGTGCAACGAGTGCGGCAAA 0.642000 25 53 0 0 0.003954 0 0 TTBK2 146057 broad.mit.edu 37 15 43122142 43122142 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:43122142G>C ENST00000267890.6 - 5 534 c.426C>G c.(424-426)atC>atG p.I142M TTBK2_ENST00000567274.1_Missense_Mutation_p.I142M|TTBK2_ENST00000567840.1_Missense_Mutation_p.I142M NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 142 Protein kinase. cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) CTACCGGTTTGATGTCTCGAT 0.408000 24 65 0 0 0.003954 0 0 CLASRP 11129 broad.mit.edu 37 19 45570821 45570821 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:45570821G>T ENST00000544944.2 + 13 2328 c.1636G>T c.(1636-1638)Gcg>Tcg p.A546S CLASRP_ENST00000391953.4_Missense_Mutation_p.A484S|CLASRP_ENST00000221455.3_Missense_Mutation_p.A546S Q8N2M8 CLASR_HUMAN CLK4-associating serine/arginine rich protein 546 Arg-rich. mRNA processing|RNA splicing nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1) 16 CAGGCCGGCCGCGTCCCCTGC 0.672000 14 13 6.31663e-08 7.35295e-08 0.003163 1 0 RSPO4 343637 broad.mit.edu 37 20 947818 947818 + Splice_Site SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:947818C>T ENST00000217260.4 - 3 504 c.409_splice c.e3+1 p.Q136_splice RSPO4_ENST00000400634.2_Splice_Site_p.Q136_splice NM_001029871.3 NP_001025042.2 Q2I0M5 RSPO4_HUMAN R-spondin 4 136 Wnt receptor signaling pathway extracellular region heparin binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 CCCACTCACCCTGGCACTCCC 0.627000 6 29 0 0 0.001984 0 0 SLC16A7 9194 broad.mit.edu 37 12 60168743 60168743 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:60168743A>G ENST00000261187.4 + 4 831 c.667A>G c.(667-669)Atc>Gtc p.I223V SLC16A7_ENST00000552024.1_Missense_Mutation_p.I223V|SLC16A7_ENST00000543448.1_Missense_Mutation_p.I124V|SLC16A7_ENST00000547379.1_Missense_Mutation_p.I223V|SLC16A7_ENST00000552432.1_Missense_Mutation_p.I223V NM_001270622.1|NM_001270623.1|NM_004731.3 NP_001257551.1|NP_001257552.1|NP_004722.2 O60669 MOT2_HUMAN solute carrier family 16 (monocarboxylate transporter), member 7 223 integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1) 30 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) CCCAAAGAAAATCAAAACGAA 0.363000 15 17 0 0 0.002450 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40847817 40847817 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:40847817A>T ENST00000264638.4 + 19 3488 c.3271A>T c.(3271-3273)Agc>Tgc p.S1091C CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 1091 Laminin G-like 4. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) CTTCAGCACCAGCTCCGCCCC 0.617000 34 47 0 0 0.012213 0 0 HPCAL1 3241 broad.mit.edu 37 2 10563138 10563138 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:10563138G>A ENST00000381765.3 + 5 934 c.408G>A c.(406-408)atG>atA p.M136I HPCAL1_ENST00000307845.3_Missense_Mutation_p.M136I NM_134421.2 NP_602293.1 P37235 HPCL1_HUMAN hippocalcin-like 1 136 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) CGTCTGTGATGAAGATGCCGG 0.622000 11 36 0 0 0.008291 0 0 TMEM125 128218 broad.mit.edu 37 1 43738818 43738818 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:43738818G>T ENST00000432792.2 + 4 995 c.425G>T c.(424-426)cGg>cTg p.R142L TMEM125_ENST00000439858.1_Missense_Mutation_p.R142L Q96AQ2 TM125_HUMAN transmembrane protein 125 142 integral to membrane breast(1)|large_intestine(1)|lung(1) 3 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCCCCTGCTCGGCCGCTGGCC 0.706000 9 5 2.74318e-10 3.38917e-10 0.006214 1 0 PLCB1 23236 broad.mit.edu 37 20 8609052 8609052 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:8609052G>T ENST00000378641.3 + 4 833 c.358G>T c.(358-360)Gtg>Ttg p.V120L PLCB1_ENST00000338037.6_Missense_Mutation_p.V120L|PLCB1_ENST00000378637.2_Missense_Mutation_p.V120L NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 120 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TTTGAATCTCGTGGCTTTCCA 0.478000 30 67 8.16721e-17 1.12469e-16 0.010818 1 0 TTN 7273 broad.mit.edu 37 2 179412806 179412806 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:179412806C>T ENST00000589042.1 - 339 93771 c.93547G>A c.(93547-93549)Gaa>Aaa p.E31183K TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E22118K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E22243K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E22310K|TTN_ENST00000342992.6_Missense_Mutation_p.E28615K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E29542K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29542 Fibronectin type-III 127. 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) ACACGGAATTCATATTCAGTT 0.453000 93 88 0 0 0.014410 0 0 SNHG14 104472715 broad.mit.edu 37 15 25425488 25425488 + RNA SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:25425488C>T ENST00000441592.2 + 0 476 TGCATTGGGTCCGCTGGCCCC 0.617000 10 10 0 0 0.006214 0 0 IGKV1D-42 28892 broad.mit.edu 37 2 90229081 90229081 + RNA SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:90229081C>A ENST00000390278.2 + 0 37 ATGAGGGTCCCCGCTCAGCTC 0.567000 55 84 2.2129e-31 3.47076e-31 0.014410 1 0 PCDHGB6 56100 broad.mit.edu 37 5 140789267 140789267 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:140789267G>T ENST00000520790.1 + 1 1498 c.1498G>T c.(1498-1500)Gcg>Tcg p.A500S PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGCCCCTGGCGGTGTCGTC 0.637000 15 7 2.35188e-11 2.98493e-11 0.006122 1 0 TRBV2 28620 broad.mit.edu 37 7 142000815 142000815 + RNA SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:142000815C>A ENST00000455382.2 + 0 69 CTGCTGTGATCCTGCCATGGA 0.512000 10 53 2.17888e-05 2.36973e-05 0.006214 1 0 NUP54 53371 broad.mit.edu 37 4 77039260 77039260 + Nonsense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:77039260G>A ENST00000264883.3 - 10 1392 c.1252C>T c.(1252-1254)Cag>Tag p.Q418* NUP54_ENST00000514987.1_Nonsense_Mutation_p.Q370*|NUP54_ENST00000342467.6_Nonsense_Mutation_p.Q202*|NUP54_ENST00000458189.2_Nonsense_Mutation_p.Q238* NM_017426.2 NP_059122.2 Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa 418 9 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleoplasm cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 AGTTCACCCTGAATCGTATCC 0.383000 10 55 0 0 0.008291 0 0 HCLS1 3059 broad.mit.edu 37 3 121352001 121352001 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:121352001C>A ENST00000314583.3 - 11 1012 c.921G>T c.(919-921)ggG>ggT p.G307G HCLS1_ENST00000428394.2_Silent_p.G270G|HCLS1_ENST00000473883.1_5'UTR NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 307 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) ATGGAGGAGTCCCAACTGGAG 0.517000 8 5 0.00307968 0.00320441 0.003080 1 0 SOGA2 23255 broad.mit.edu 37 18 8786039 8786039 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr18:8786039G>A ENST00000359865.3 + 7 1979 c.1837G>A c.(1837-1839)Ggg>Agg p.G613R SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Missense_Mutation_p.G613R|SOGA2_ENST00000517570.1_Missense_Mutation_p.G613R|SOGA2_ENST00000306329.11_Missense_Mutation_p.G973R NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 964 CCGCGCAGACGGGGACACCGG 0.726000 17 3 0 0 0.004990 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42278076 42278076 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:42278076G>A ENST00000399518.3 - 18 2649 c.2163C>T c.(2161-2163)ctC>ctT p.L721L CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Silent_p.L692L NM_001206670.1 NP_001193599.1 Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 709 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) GGTGGATGATGAGGTCGGCTT 0.617000 6 10 0 0 0.001168 0 0 AFF3 3899 broad.mit.edu 37 2 100623731 100623731 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:100623731G>A ENST00000317233.4 - 5 601 c.366C>T c.(364-366)ccC>ccT p.P122P AFF3_ENST00000409579.1_Silent_p.P147P|AFF3_ENST00000409236.1_Silent_p.P122P|AFF3_ENST00000356421.2_Silent_p.P147P NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 122 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 AGATAGACGAGGGCTGGTTCT 0.537000 41 58 0 0 0.013114 0 0 BCL2L14 79370 broad.mit.edu 37 12 12232294 12232294 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:12232294C>T ENST00000266434.4 + 2 250 c.55C>T c.(55-57)Cta>Tta p.L19L BCL2L14_ENST00000586576.1_Silent_p.L52L|BCL2L14_ENST00000396367.1_Silent_p.L19L|BCL2L14_ENST00000589718.1_Silent_p.L19L|BCL2L14_ENST00000396369.1_Silent_p.L19L|BCL2L14_ENST00000308721.5_Silent_p.L19L NM_030766.1 NP_110393.1 Q9BZR8 B2L14_HUMAN BCL2-like 14 (apoptosis facilitator) 19 apoptosis|regulation of apoptosis cytosol|endomembrane system|intracellular organelle|membrane protein binding large_intestine(1)|lung(2)|skin(3) 6 Prostate(47;0.0872) BRCA - Breast invasive adenocarcinoma(232;0.154) TGATGATGACCTAAACACCAT 0.483000 13 96 0 0 0.002450 0 0 DLC1 10395 broad.mit.edu 37 8 13072141 13072141 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:13072141G>C ENST00000316609.5 - 6 1779 c.1491C>G c.(1489-1491)atC>atG p.I497M DLC1_ENST00000276297.4_Intron|DLC1_ENST00000512044.2_Intron Q96QB1 RHG07_HUMAN deleted in liver cancer 1 0 SAM. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 CGGCCTAGGTGATGTTTTCTT 0.498000 50 151 0 0 0.014410 0 0 ZNF737 100129842 broad.mit.edu 37 19 20727787 20727787 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:20727787A>G ENST00000427401.4 - 4 1316 c.1222T>C c.(1222-1224)Tac>Cac p.Y408H NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 408 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 GAAGAGGAGTACTTAAAGGCT 0.428000 21 43 0 0 0.008871 0 0 PROX1 5629 broad.mit.edu 37 1 214170863 214170863 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:214170863G>A ENST00000366958.4 + 2 1593 c.985G>A c.(985-987)Ggc>Agc p.G329S PROX1_ENST00000261454.4_Missense_Mutation_p.G329S|PROX1_ENST00000435016.1_Missense_Mutation_p.G329S|PROX1_ENST00000498508.2_Missense_Mutation_p.G329S NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 329 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) GAAGCGAGAAGGCAACAACAA 0.493000 9 50 0 0 0.004482 0 0 KCNJ12 3768 broad.mit.edu 37 17 21318732 21318732 + Silent SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:21318732G>C ENST00000583088.1 + 3 973 c.78G>C c.(76-78)tcG>tcC p.S26S KCNJ12_ENST00000331718.5_Silent_p.S26S NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) TCACCATGTCGGGCGCCAACG 0.662000 Prostate(3;0.18) 6 43 0 0 0.001168 0 0 STRN3 29966 broad.mit.edu 37 14 31405799 31405799 + Missense_Mutation SNP A A C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:31405799A>C ENST00000355683.5 - 6 963 c.748T>G c.(748-750)Ttc>Gtc p.F250V STRN3_ENST00000357479.5_Missense_Mutation_p.F250V NM_014574.3 NP_055389.3 Q13033 STRN3_HUMAN striatin, calmodulin binding protein 3 250 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) TTTTCTAAGAAATTGAACGTC 0.383000 51 17 0 0 0.014410 0 0 LILRB4 11006 broad.mit.edu 37 19 55177323 55177323 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:55177323T>A ENST00000391736.1 + 9 1130 c.815T>A c.(814-816)cTc>cAc p.L272H LILRB4_ENST00000391733.3_Missense_Mutation_p.L272H|LILRB4_ENST00000430952.2_Missense_Mutation_p.L272H|LILRB4_ENST00000270452.2_Missense_Mutation_p.L272H|LILRB4_ENST00000391734.3_Missense_Mutation_p.L272H NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 272 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) Atcctgcttctctccctcctc 0.557000 8 20 0 0 0.004482 0 0 TLR7 51284 broad.mit.edu 37 X 12905663 12905663 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:12905663A>G ENST00000380659.3 + 3 2175 c.2036A>G c.(2035-2037)aAt>aGt p.N679S NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 679 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) AATCTAAAGAATCTCTCTTTG 0.393000 40 131 0 0 0.006999 0 0 ENTHD1 150350 broad.mit.edu 37 22 40140270 40140270 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr22:40140270C>T ENST00000325157.6 - 7 1488 c.1238G>A c.(1237-1239)gGa>gAa p.G413E NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 413 breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) GGAAGATGCTCCCTCAGAAGC 0.363000 8 41 0 0 0.004482 0 0 REM2 161253 broad.mit.edu 37 14 23354038 23354038 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:23354038G>C ENST00000267396.4 + 2 382 c.259G>C c.(259-261)Gac>Cac p.D87H REM2_ENST00000536884.1_Missense_Mutation_p.D87H NM_173527.2 NP_775798.2 Q8IYK8 REM2_HUMAN RAS (RAD and GEM)-like GTP binding 2 87 regulation of transcription, DNA-dependent|small GTPase mediated signal transduction intracellular|plasma membrane ATP binding|GTP binding|transcription factor binding breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1) 5 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.012) AGATGAACTTGACTGGCCACC 0.622000 7 81 0 0 0.004482 0 0 SYNJ2 8871 broad.mit.edu 37 6 158454617 158454617 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:158454617G>T ENST00000355585.4 + 4 691 c.616G>T c.(616-618)Gtc>Ttc p.V206F SYNJ2_ENST00000367122.2_Missense_Mutation_p.V206F|SYNJ2_ENST00000367121.3_Missense_Mutation_p.V206F|SYNJ2_ENST00000449859.2_Missense_Mutation_p.V155F NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 206 SAC. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) GGCCTGCCTCGTCTCTCGCGT 0.622000 23 32 4.72057e-08 5.51227e-08 0.003954 1 0 NSMAF 8439 broad.mit.edu 37 8 59514633 59514633 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:59514633C>A ENST00000038176.3 - 14 1321 c.1109G>T c.(1108-1110)cGg>cTg p.R370L NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Missense_Mutation_p.R401L NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor 370 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) TCTCTCCAGCCGTTCCTTATT 0.413000 39 112 1.7489e-18 2.45374e-18 0.011902 1 0 OR52A5 390054 broad.mit.edu 37 11 5153170 5153170 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:5153170C>T ENST00000307388.1 - 1 702 c.703G>A c.(703-705)Gag>Aag p.E235K NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, member 5 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AATCGTGCCTCCTTCTGGGGC 0.418000 48 47 0 0 0.013114 0 0 SLCO1B7 338821 broad.mit.edu 37 12 21168707 21168707 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:21168707C>A ENST00000421593.2 + 1 78 c.78C>A c.(76-78)ttC>ttA p.F26L LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron NM_001009562.4 NP_001009562.3 solute carrier organic anion transporter family, member 1B7 (non-functional) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 ATGGAAGCTTCGAAATAGGTA 0.308000 10 15 3.86212e-05 4.16393e-05 0.008291 1 0 INADL 10207 broad.mit.edu 37 1 62340990 62340990 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:62340990G>T ENST00000371158.2 + 21 3025 c.2911G>T c.(2911-2913)Gac>Tac p.D971Y INADL_ENST00000316485.6_Missense_Mutation_p.D971Y NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 971 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 AGGCAGATTTGACGACCTGGA 0.338000 34 13 7.83172e-31 1.22319e-30 0.004289 1 0 PRMT3 10196 broad.mit.edu 37 11 20483570 20483570 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:20483570G>A ENST00000331079.6 + 12 1334 c.1117G>A c.(1117-1119)Gtg>Atg p.V373M PRMT3_ENST00000437750.2_Missense_Mutation_p.V311M NM_001145167.1|NM_005788.3 NP_001138639.1|NP_005779.1 O60678 ANM3_HUMAN protein arginine methyltransferase 3 373 zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1) 17 AGTGAGTGATGTGAATAAACA 0.388000 43 91 0 0 0.011902 0 0 CCDC8 83987 broad.mit.edu 37 19 46914604 46914604 + Nonsense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:46914604C>T ENST00000307522.3 - 1 2237 c.1464G>A c.(1462-1464)tgG>tgA p.W488* NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 488 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) GCTTGCAAAACCACGAAAAGC 0.622000 37 57 0 0 0.003755 0 0 PORCN 64840 broad.mit.edu 37 X 48370283 48370283 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:48370283G>A ENST00000367574.4 + 4 625 c.120G>A c.(118-120)gaG>gaA p.E40E PORCN_ENST00000537758.1_Silent_p.E111E|PORCN_ENST00000359882.4_Silent_p.E111E|PORCN_ENST00000361988.3_Silent_p.E111E|PORCN_ENST00000355961.4_Silent_p.E111E|PORCN_ENST00000326194.6_Silent_p.E111E|PORCN_ENST00000355092.3_Silent_p.E111E Q9H237 PORCN_HUMAN porcupine homolog (Drosophila) 111 Leu-rich. Wnt receptor signaling pathway endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCCTCAGTGAGATGCACATGG 0.597000 OREG0019764 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 61 0 0 0.007413 0 0 NPTXR 23467 broad.mit.edu 37 22 39219124 39219124 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr22:39219124G>C ENST00000333039.2 - 4 1365 c.1242C>G c.(1240-1242)atC>atG p.I414M NM_014293.3 NP_055108.2 O95502 NPTXR_HUMAN neuronal pentraxin receptor 414 Pentaxin. integral to membrane metal ion binding central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Melanoma(58;0.04) CATGAGGCTTGATGGGGTGCC 0.602000 28 67 0 0 0.012213 0 0 ATP10B 23120 broad.mit.edu 37 5 160033898 160033898 + Nonsense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:160033898C>A ENST00000327245.5 - 19 3880 c.3034G>T c.(3034-3036)Gag>Tag p.E1012* NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1012 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AACTTCTTCTCTAGCTTTCCC 0.507000 51 40 4.86159e-25 7.37655e-25 0.014410 1 0 ADRA1A 148 broad.mit.edu 37 8 26721992 26721992 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:26721992C>G ENST00000380573.3 - 2 1518 c.495G>C c.(493-495)tgG>tgC p.W165C ADRA1A_ENST00000354550.4_Missense_Mutation_p.W165C|ADRA1A_ENST00000358857.5_Missense_Mutation_p.W165C|ADRA1A_ENST00000519229.1_Missense_Mutation_p.W165C|ADRA1A_ENST00000380581.2_Missense_Mutation_p.W165C|ADRA1A_ENST00000380582.3_Missense_Mutation_p.W165C|ADRA1A_ENST00000380586.1_Missense_Mutation_p.W165C|ADRA1A_ENST00000276393.4_Missense_Mutation_p.W165C|ADRA1A_ENST00000380572.3_Missense_Mutation_p.W165C|ADRA1A_ENST00000380587.1_Missense_Mutation_p.W165C P35348 ADA1A_HUMAN adrenoceptor alpha 1A 165 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) CCGGCTGCCTCCAGCCGAACA 0.637000 30 32 0 0 0.013726 0 0 DEDD 9191 broad.mit.edu 37 1 161093691 161093691 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:161093691C>G ENST00000392188.1 - 4 605 c.371G>C c.(370-372)cGc>cCc p.R124P DEDD_ENST00000368005.1_Missense_Mutation_p.R124P|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000458050.2_Missense_Mutation_p.R124P|DEDD_ENST00000545495.1_Missense_Mutation_p.R124P|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000368006.3_Missense_Mutation_p.R124P O75618 DEDD_HUMAN death effector domain containing 124 apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1) 10 all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GGTCACATAGCGAATTGATGT 0.483000 37 97 0 0 0.007835 0 0 REM2 161253 broad.mit.edu 37 14 23355356 23355356 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:23355356G>A ENST00000267396.4 + 4 766 c.643G>A c.(643-645)Gct>Act p.A215T REM2_ENST00000536884.1_Missense_Mutation_p.G190D NM_173527.2 NP_775798.2 Q8IYK8 REM2_HUMAN RAS (RAD and GEM)-like GTP binding 2 215 regulation of transcription, DNA-dependent|small GTPase mediated signal transduction intracellular|plasma membrane ATP binding|GTP binding|transcription factor binding breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1) 5 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.012) TCGGCTCCGGGCTGGGAGGCC 0.597000 7 61 0 0 0.003080 0 0 CHD3 1107 broad.mit.edu 37 17 7814256 7814256 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:7814256A>G ENST00000380358.4 + 39 6024 c.6023A>G c.(6022-6024)aAt>aGt p.N2008S CHD3_ENST00000330494.7_Missense_Mutation_p.N1949S|CHD3_ENST00000358181.4_Missense_Mutation_p.N1915S NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1949 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) GCAGGCGCCAATTACAGCCAG 0.632000 63 92 0 0 0.014410 0 0 BHLHE22 27319 broad.mit.edu 37 8 65493499 65493499 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:65493499G>A ENST00000321870.1 + 1 686 c.152G>A c.(151-153)cGg>cAg p.R51Q RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 51 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 CCGCCGCCTCGGGAACGCCCG 0.736000 8 5 0 0 0.006214 0 0 BIRC6 57448 broad.mit.edu 37 2 32740755 32740755 + Missense_Mutation SNP G G A rs138598333 byFrequency TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:32740755G>A ENST00000421745.2 + 55 11401 c.11267G>A c.(11266-11268)cGc>cAc p.R3756H NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 3756 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) ACTCAACAGCGCACAGCAATT 0.433000 11 47 0 0 0.008291 0 0 NOX5 79400 broad.mit.edu 37 15 69347810 69347810 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:69347810C>T ENST00000260364.5 + 16 2383 c.2082C>T c.(2080-2082)cgC>cgT p.R694R NOX5_ENST00000388866.3_Silent_p.R712R|NOX5_ENST00000455873.3_Silent_p.R677R|NOX5_ENST00000448182.3_Silent_p.R666R|NOX5_ENST00000530406.2_Silent_p.R684R Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 712 angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 TGCAGACGCGCACCCAGCCTG 0.607000 18 27 0 0 0.007413 0 0 TRIM8 81603 broad.mit.edu 37 10 104416663 104416663 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:104416663C>T ENST00000302424.6 + 6 1330 c.1208C>T c.(1207-1209)gCg>gTg p.A403V TRIM8_ENST00000487927.1_3'UTR NM_030912.2 NP_112174.2 Q9BZR9 TRIM8_HUMAN tripartite motif containing 8 403 cytoplasm|PML body ligase activity|protein homodimerization activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TACGGGGCGGCGGGCACAGCC 0.711000 38 23 0 0 0.004878 0 0 PALB2 79728 broad.mit.edu 37 16 23647270 23647270 + Silent SNP A A C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:23647270A>C ENST00000261584.4 - 4 749 c.597T>G c.(595-597)ctT>ctG p.L199L NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 199 Interaction with BRCA1.|Interaction with RAD51. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) TAAGACTTAAAAGGTGAGTTC 0.378000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 93 135 0 0 0.014410 0 0 CAMK1G 57172 broad.mit.edu 37 1 209781228 209781228 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:209781228C>A ENST00000009105.1 + 7 830 c.585C>A c.(583-585)ccC>ccA p.P195P CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Silent_p.P195P Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 195 Protein kinase. Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) CCCAGAAACCCTACAGCAAGG 0.597000 56 87 3.89483e-19 5.55871e-19 0.014410 1 0 CDH1 999 broad.mit.edu 37 16 68842735 68842735 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:68842735G>A ENST00000261769.5 + 5 862 c.671G>A c.(670-672)cGc>cAc p.R224H CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.R224H NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 224 Cadherin 1. adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(2) NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) GATAGAGAACGCATTGCCACA 0.483000 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 4 30 0 0 0.009096 0 0 UNC13C 440279 broad.mit.edu 37 15 54305610 54305610 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:54305610G>T ENST00000545554.1 + 1 510 c.510G>T c.(508-510)gaG>gaT p.E170D UNC13C_ENST00000537900.1_Missense_Mutation_p.E170D|UNC13C_ENST00000260323.11_Missense_Mutation_p.E170D Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 170 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CTGACGGGGAGCGTACTCTAC 0.473000 25 70 1.42536e-11 1.81831e-11 0.004656 1 0 CDKL5 6792 broad.mit.edu 37 X 18622489 18622489 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:18622489A>G ENST00000379989.3 + 13 1730 c.1445A>G c.(1444-1446)tAc>tGc p.Y482C CDKL5_ENST00000379996.3_Missense_Mutation_p.Y482C|CDKL5_ENST00000463994.1_3'UTR NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 482 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) AGTCCCTCCTACAGGACCAAG 0.532000 21 114 0 0 0.012319 0 0 FREM2 341640 broad.mit.edu 37 13 39262131 39262131 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr13:39262131G>T ENST00000280481.7 + 1 866 c.650G>T c.(649-651)cGc>cTc p.R217L NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 217 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) GAGGAGTGCCGCGTGGGCATC 0.682000 34 11 9.17885e-22 1.35143e-21 0.003271 1 0 SPEF2 79925 broad.mit.edu 37 5 35654802 35654802 + Nonsense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:35654802C>T ENST00000440995.2 + 7 952 c.952C>T c.(952-954)Cag>Tag p.Q318* SPEF2_ENST00000356031.3_Nonsense_Mutation_p.Q318*|SPEF2_ENST00000509059.1_Nonsense_Mutation_p.Q318*|SPEF2_ENST00000282469.6_Nonsense_Mutation_p.Q318* Q9C093 SPEF2_HUMAN sperm flagellar 2 318 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) GTTAATGGACCAGTTAATAGC 0.383000 45 43 0 0 0.014410 0 0 SGCD 6444 broad.mit.edu 37 5 156184595 156184595 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:156184595G>T ENST00000435422.3 + 7 1063 c.576G>T c.(574-576)ttG>ttT p.L192F SGCD_ENST00000447401.1_Missense_Mutation_p.L193F|SGCD_ENST00000517913.1_Missense_Mutation_p.L193F|SGCD_ENST00000337851.4_Missense_Mutation_p.L193F NM_001128209.1 NP_001121681.1 Q92629 SGCD_HUMAN sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 192 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1) 24 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTTTCAGGTTGGAGTCCCCAA 0.443000 9 2 2.80697e-09 3.38381e-09 0.010729 1 0 NRXN2 9379 broad.mit.edu 37 11 64415749 64415749 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:64415749C>A ENST00000265459.6 - 17 3806 c.3345G>T c.(3343-3345)tgG>tgT p.W1115C NRXN2_ENST00000377551.1_Missense_Mutation_p.W1115C|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.W1108C|NRXN2_ENST00000377559.3_Missense_Mutation_p.W1075C NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1115 EGF-like 3. cell adhesion integral to membrane metal ion binding 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 TGAAGCCATCCCACTGCTGCA 0.627000 34 62 1.62565e-12 2.12103e-12 0.012213 1 0 CRB1 23418 broad.mit.edu 37 1 197404354 197404354 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:197404354C>A ENST00000367397.1 + 5 2362 c.1504C>A c.(1504-1506)Cag>Aag p.Q502K CRB1_ENST00000535699.1_Missense_Mutation_p.Q1097K|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Missense_Mutation_p.Q1121K|CRB1_ENST00000367399.2_Missense_Mutation_p.Q1009K|CRB1_ENST00000544212.1_Missense_Mutation_p.Q602K P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1121 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TAATAAACCTCAGGAAGAGCA 0.398000 30 72 1.13719e-10 1.41911e-10 0.008361 1 0 MUC16 94025 broad.mit.edu 37 19 9074423 9074423 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:9074423G>T ENST00000397910.4 - 3 13226 c.13023C>A c.(13021-13023)acC>acA p.T4341T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4343 Ser-rich.|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 CTTGTGTCTTGGTGACATGAG 0.483000 4 26 1.06961e-07 1.23736e-07 0.003080 1 0 TSHZ1 10194 broad.mit.edu 37 18 72997606 72997606 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr18:72997606A>T ENST00000322038.5 + 2 693 c.109A>T c.(109-111)Agc>Tgc p.S37C TSHZ1_ENST00000580243.1_Missense_Mutation_p.S82C NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 82 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CAGTGAGAGCAGCGACCAGCT 0.597000 9 10 0 0 0.004482 0 0 NRG2 9542 broad.mit.edu 37 5 139231313 139231313 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:139231313G>T ENST00000541337.1 - 7 1679 c.1450C>A c.(1450-1452)Cca>Aca p.P484T NRG2_ENST00000289409.4_Missense_Mutation_p.P544T|NRG2_ENST00000340391.3_Missense_Mutation_p.P347T|NRG2_ENST00000289422.7_Missense_Mutation_p.P558T|NRG2_ENST00000394770.1_3'UTR|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000361474.1_Missense_Mutation_p.P550T|NRG2_ENST00000545385.1_Missense_Mutation_p.P552T|NRG2_ENST00000358522.3_Missense_Mutation_p.P552T NM_001184935.1 NP_001171864.1 O14511 NRG2_HUMAN neuregulin 2 550 embryo development extracellular region|integral to membrane|plasma membrane growth factor activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACATGCTGGGCTGTTGCAT 0.627000 7 25 0.00198382 0.00207576 0.001984 1 0 IGKV1-9 28941 broad.mit.edu 37 2 89309940 89309940 + RNA SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:89309940G>T ENST00000493819.1 - 0 72 GCTGAGCGGGGACCCTCATGT 0.577000 33 94 1.6237e-14 2.17956e-14 0.013114 1 0 P4HA2 8974 broad.mit.edu 37 5 131533904 131533904 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:131533904T>A ENST00000401867.1 - 13 1934 c.1366A>T c.(1366-1368)Aac>Tac p.N456Y P4HA2_ENST00000379086.1_Intron|P4HA2_ENST00000379100.2_Intron|P4HA2_ENST00000379104.2_Missense_Mutation_p.N456Y|P4HA2_ENST00000166534.4_Missense_Mutation_p.N456Y|P4HA2_ENST00000360568.3_Intron O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha polypeptide II 456 Fe2OG dioxygenase. endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) CTCACGTAGTTTAAGAAAGTA 0.502000 31 11 0 0 0.005524 0 0 CEACAM5 1048 broad.mit.edu 37 19 42224051 42224051 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:42224051C>T ENST00000221992.6 + 7 1809 c.1695C>T c.(1693-1695)gaC>gaT p.D565D CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Silent_p.D564D|CEACAM5_ENST00000405816.1_Silent_p.D565D NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 565 Ig-like 6. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CAAGAAATGACGCAAGAGCCT 0.517000 99 125 0 0 0.014410 0 0 A4GNT 51146 broad.mit.edu 37 3 137850025 137850025 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:137850025A>T ENST00000236709.3 - 2 275 c.74T>A c.(73-75)cTg>cAg p.L25Q NM_016161.2 NP_057245.1 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 25 protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7) 16 GCTGGACTTCAGGGTGAACTG 0.567000 14 21 0 0 0.004007 0 0 SNAPC4 6621 broad.mit.edu 37 9 139282935 139282935 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:139282935G>T ENST00000298532.2 - 10 1452 c.1084C>A c.(1084-1086)Cag>Aag p.Q362K NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 362 Myb-like 2. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGCATCTCCTGCACCAGCTGC 0.622000 14 46 9.31168e-06 1.02621e-05 0.001855 1 0 SCN8A 6334 broad.mit.edu 37 12 52164414 52164414 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:52164414A>G ENST00000354534.5 + 19 3770 c.3592A>G c.(3592-3594)Aac>Gac p.N1198D SCN8A_ENST00000545061.1_Missense_Mutation_p.N1198D NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1198 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CGTGGAGCACAACTGGTTTGA 0.562000 7 44 0 0 0.001984 0 0 C17orf47 284083 broad.mit.edu 37 17 56620309 56620309 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:56620309C>T ENST00000321691.3 - 1 1420 c.1239G>A c.(1237-1239)ttG>ttA p.L413L RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA NM_001038704.2 NP_001033793.2 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 413 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACCGAGGAGGCAAGGGCCTAG 0.532000 21 80 0 0 0.014323 0 0 RARG 5916 broad.mit.edu 37 12 53621207 53621207 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:53621207C>G ENST00000425354.2 - 3 610 c.123G>C c.(121-123)atG>atC p.M41I RARG_ENST00000327550.3_Intron|RARG_ENST00000543762.1_Intron|RARG_ENST00000394426.1_Missense_Mutation_p.M41I NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 41 Modulating. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) TAGGGCTCAGCATCTCGAAAG 0.627000 62 29 0 0 0.014410 0 0 NAV3 89795 broad.mit.edu 37 12 78400833 78400833 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:78400833G>A ENST00000397909.2 + 8 1688 c.1515G>A c.(1513-1515)ttG>ttA p.L505L NAV3_ENST00000228327.6_Silent_p.L505L|NAV3_ENST00000266692.7_Silent_p.L505L|NAV3_ENST00000536525.2_Silent_p.L505L Q8IVL0 NAV3_HUMAN neuron navigator 3 505 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TTGCAAGCTTGATCCCTAAGG 0.428000 HNSCC(70;0.22) 35 29 0 0 0.003755 0 0 OR5B17 219965 broad.mit.edu 37 11 58126398 58126398 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:58126398G>C ENST00000357377.3 - 1 144 c.145C>G c.(145-147)Ctg>Gtg p.L49V NM_001005489.1 NP_001005489.1 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, member 17 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) TGAGAGTCCAGCAGGATTAAT 0.463000 40 71 0 0 0.009718 0 0 TRIOBP 11078 broad.mit.edu 37 22 38121264 38121264 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr22:38121264A>T ENST00000406386.3 + 7 2956 c.2701A>T c.(2701-2703)Aac>Tac p.N901Y RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 901 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CCATCGTACTAACAAAGACAT 0.547000 99 156 0 0 0.014410 0 0 WDR63 126820 broad.mit.edu 37 1 85561694 85561694 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:85561694C>G ENST00000294664.6 + 11 1434 c.1254C>G c.(1252-1254)atC>atG p.I418M WDR63_ENST00000326813.8_Missense_Mutation_p.I379M|WDR63_ENST00000370596.1_Missense_Mutation_p.I379M NM_145172.3 NP_660155.2 Q8IWG1 WDR63_HUMAN WD repeat domain 63 418 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3) 36 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) GAGGCTGTATCAATGGGCAGG 0.393000 31 19 0 0 0.010818 0 0 ZNF17 7565 broad.mit.edu 37 19 57931542 57931542 + Silent SNP A A C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:57931542A>C ENST00000307658.7 + 4 951 c.688A>C c.(688-690)Agg>Cgg p.R230R ZNF17_ENST00000601808.1_Silent_p.R228R|AC004076.7_ENST00000597410.1_Intron P17021 ZNF17_HUMAN zinc finger protein 17 228 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) CAAATTGTTTAGGTACAACTC 0.413000 5 91 0 0 0.001984 0 0 NSMAF 8439 broad.mit.edu 37 8 59548030 59548030 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:59548030G>C ENST00000038176.3 - 3 437 c.225C>G c.(223-225)atC>atG p.I75M NSMAF_ENST00000427130.2_Missense_Mutation_p.I106M NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor 75 ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) TATTTACCTTGATGATGGGCT 0.308000 12 227 0 0 0.013537 0 0 MRGPRE 116534 broad.mit.edu 37 11 3249862 3249862 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:3249862G>A ENST00000389832.5 - 2 474 c.168C>T c.(166-168)aaC>aaT p.N56N MRGPRE_ENST00000436689.2_Silent_p.N55N|AC109309.4_ENST00000418995.2_RNA Q86SM8 MRGRE_HUMAN MAS-related GPR, member E 55 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGCGAAGGGGTTTCTGTAGA 0.632000 41 65 0 0 0.010771 0 0 NDUFA5 4698 broad.mit.edu 37 7 123197486 123197486 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:123197486C>G ENST00000471770.1 - 2 172 c.38G>C c.(37-39)gGa>gCa p.G13A NDUFA5_ENST00000355749.2_Missense_Mutation_p.G13A|NDUFA5_ENST00000467117.1_5'UTR Q16718 NDUA5_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 13 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity large_intestine(1)|urinary_tract(1) 2 NADH(DB00157) CACAGCCAATCCCACAAGGCC 0.423000 5 54 0 0 0.000602 0 0 MMP12 4321 broad.mit.edu 37 11 102738033 102738033 + RNA SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:102738033G>C ENST00000532855.1 - 0 974 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TATTTCCCACGGTAGTGACAG 0.368000 7 3 0 0 0.001984 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43847820 43847820 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:43847820C>T ENST00000389420.3 - 12 1649 c.1650G>A c.(1648-1650)acG>acA p.T550T ADAMTS20_ENST00000553158.1_Silent_p.T550T NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 550 Disintegrin. 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) GACGTGTTTCCGTTTCTTTGT 0.398000 4 34 0 0 0.000602 0 0 TAS2R4 50832 broad.mit.edu 37 7 141478516 141478516 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:141478516G>A ENST00000247881.2 + 1 275 c.228G>A c.(226-228)agG>agA p.R76R SSBP1_ENST00000465582.1_Intron NM_016944.1 NP_058640.1 Q9NYW5 TA2R4_HUMAN taste receptor, type 2, member 4 76 sensory perception of taste cilium membrane taste receptor activity endometrium(1)|large_intestine(4)|lung(2) 7 Melanoma(164;0.0171) BRCA - Breast invasive adenocarcinoma(188;0.196) ATACGGAAAGGTCAGTCTACC 0.433000 65 116 0 0 0.014410 0 0 OR2L3 391192 broad.mit.edu 37 1 248224349 248224349 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:248224349C>T ENST00000359959.3 + 1 366 c.366C>T c.(364-366)taC>taT p.Y122Y OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ATGATCGTTACATTGCTATTT 0.448000 100 141 0 0 0.014410 0 0 SPTAN1 6709 broad.mit.edu 37 9 131331097 131331097 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:131331097A>T ENST00000372739.3 + 3 394 c.284A>T c.(283-285)aAc>aTc p.N95I SPTAN1_ENST00000372731.4_Missense_Mutation_p.N95I|SPTAN1_ENST00000358161.5_Missense_Mutation_p.N95I NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 95 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GTGCAGGCCAACTCAGGAGCC 0.488000 54 9 0 0 0.014410 0 0 NUTM1 256646 broad.mit.edu 37 15 34640393 34640393 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:34640393C>T ENST00000537011.1 + 3 706 c.324C>T c.(322-324)ctC>ctT p.L108L NUTM1_ENST00000333756.4_Silent_p.L80L|NUTM1_ENST00000438749.3_Silent_p.L98L NUT midline carcinoma, family member 1 GCCCTTGCCTCAGTGGGGCTG 0.557000 29 121 0 0 0.006320 0 0 KMT2B 9757 broad.mit.edu 37 19 36212275 36212275 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:36212275G>A ENST00000420124.1 + 3 2026 c.2026G>A c.(2026-2028)Gcc>Acc p.A676T KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000341701.1_Splice_Site|WBP7_ENST00000222270.7_Missense_Mutation_p.A676T GGCTCCTGAAGCCCCTGAGCC 0.642000 7 7 0 0 0.001984 0 0 PCLO 27445 broad.mit.edu 37 7 82584629 82584629 + Silent SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:82584629T>A ENST00000423517.2 - 5 5977 c.5640A>T c.(5638-5640)gtA>gtT p.V1880V PCLO_ENST00000333891.8_Silent_p.V1880V NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1811 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 AAACTTTTTGTACTTCTATTA 0.368000 22 34 0 0 0.014323 0 0 PRR12 57479 broad.mit.edu 37 19 50123642 50123642 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:50123642G>T ENST00000418929.2 + 10 5543 c.5531G>T c.(5530-5532)aGg>aTg p.R1844M NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 1023 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CTCAAAACCAGGGCGATGCGG 0.582000 3 16 0.004672 0.00481416 0.004672 1 0 DHX30 22907 broad.mit.edu 37 3 47890739 47890739 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:47890739C>T ENST00000446256.2 + 20 3442 c.2870C>T c.(2869-2871)tCg>tTg p.S957L DHX30_ENST00000457607.1_Missense_Mutation_p.S1024L|DHX30_ENST00000445061.1_Missense_Mutation_p.S996L|DHX30_ENST00000348968.4_Missense_Mutation_p.S968L NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 996 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GGGAAGCCCTCGGACTGCACC 0.597000 5 54 0 0 0.000602 0 0 OR2T10 127069 broad.mit.edu 37 1 248756557 248756557 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:248756557G>A ENST00000330500.2 - 1 543 c.513C>T c.(511-513)tcC>tcT p.S171S NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 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) GAATCTCATGGGATCTGCAGA 0.502000 49 94 0 0 0.014410 0 0 VEPH1 79674 broad.mit.edu 37 3 157099093 157099093 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:157099093G>T ENST00000362010.2 - 7 1286 c.979C>A c.(979-981)Ctc>Atc p.L327I VEPH1_ENST00000392832.2_Missense_Mutation_p.L327I|VEPH1_ENST00000392833.2_Missense_Mutation_p.L327I|VEPH1_ENST00000543418.1_Missense_Mutation_p.L327I NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 327 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TCCAGCAGGAGAATATGGTGA 0.498000 42 48 3.43241e-23 5.14517e-23 0.009718 1 0 COL8A1 1295 broad.mit.edu 37 3 99513341 99513341 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:99513341C>A ENST00000261037.3 + 5 976 c.596C>A c.(595-597)cCa>cAa p.P199Q COL8A1_ENST00000273342.4_Missense_Mutation_p.P199Q NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 199 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 CAAGGACCTCCAGGGCCTCAT 0.592000 23 27 2.27731e-05 2.46957e-05 0.012319 1 0 NLRP8 126205 broad.mit.edu 37 19 56487625 56487625 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:56487625G>T ENST00000291971.3 + 8 2903 c.2832G>T c.(2830-2832)ctG>ctT p.L944L NLRP8_ENST00000590542.1_Silent_p.L925L NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 944 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TGATCCTGCTGTGTGAGGCCC 0.463000 35 50 1.07121e-22 1.5993e-22 0.006999 1 0 OR2F1 26211 broad.mit.edu 37 7 143657597 143657597 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:143657597C>T ENST00000392899.1 + 1 571 c.534C>T c.(532-534)tcC>tcT p.S178S NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) ATCACATATCCTGTGAACTCC 0.498000 36 56 0 0 0.003755 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130220339 130220339 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:130220339G>T ENST00000276211.5 + 10 1663 c.1318G>T c.(1318-1320)Gtg>Ttg p.V440L ARHGAP36_ENST00000370921.1_Missense_Mutation_p.V304L|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.V428L NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 440 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 TGCTAAGCGCGTGTGGAAGTC 0.453000 27 27 2.08457e-15 2.83395e-15 0.010818 1 0 SLC28A1 9154 broad.mit.edu 37 15 85431063 85431063 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:85431063G>T ENST00000394573.1 + 3 274 c.72G>T c.(70-72)atG>atT p.M24I SLC28A1_ENST00000537216.1_Missense_Mutation_p.M24I|SLC28A1_ENST00000538177.1_Missense_Mutation_p.M24I|SLC28A1_ENST00000338602.2_Missense_Mutation_p.M24I|SLC28A1_ENST00000537703.1_5'UTR|SLC28A1_ENST00000286749.3_Missense_Mutation_p.M24I|SLC28A1_ENST00000537624.1_Missense_Mutation_p.M24I NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 24 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) TGGAGAACATGGGGGCTGATT 0.567000 31 50 1.82574e-34 2.88786e-34 0.013726 1 0 C5orf54 63920 broad.mit.edu 37 5 159821207 159821207 + Nonsense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:159821207C>A ENST00000408953.3 - 2 1798 c.1291G>T c.(1291-1293)Gaa>Taa p.E431* C5orf54_ENST00000523213.1_Nonsense_Mutation_p.E431* NM_022090.3 NP_071373.2 Q8IZ13 CE054_HUMAN chromosome 5 open reading frame 54 431 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 12 attatttcttcaagaaaagga 0.328000 38 20 1.414e-09 1.71848e-09 0.003755 1 0 JARID2 3720 broad.mit.edu 37 6 15468903 15468903 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:15468903G>T ENST00000341776.2 + 5 868 c.624G>T c.(622-624)tcG>tcT p.S208S JARID2_ENST00000541660.1_Silent_p.S170S|JARID2_ENST00000397311.3_Silent_p.S36S NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 208 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) CATGCCAGTCGACCCCCAGGA 0.468000 37 57 3.71624e-46 6.01869e-46 0.014410 1 0 RP1 6101 broad.mit.edu 37 8 55540739 55540739 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:55540739G>T ENST00000220676.1 + 4 4445 c.4297G>T c.(4297-4299)Gca>Tca p.A1433S NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1433 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) GGATGAAAATGCATATACTTC 0.363000 26 72 1.42536e-11 1.81831e-11 0.004656 1 0 MKRN3 7681 broad.mit.edu 37 15 23811593 23811593 + Nonsense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:23811593G>T ENST00000314520.3 + 1 1140 c.664G>T c.(664-666)Gag>Tag p.E222* MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 222 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding 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) ATCTGCCCCCGAGGCTCCTCT 0.597000 10 24 0.000978159 0.00102928 0.010729 1 0 COL11A1 1301 broad.mit.edu 37 1 103462681 103462681 + Splice_Site SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:103462681C>T ENST00000358392.2 - 26 2550 c.e26-1 COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 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) CAGGATGACCCTATATTTAGC 0.318000 100 51 0 0 0.014410 0 0 SCRN3 79634 broad.mit.edu 37 2 175287708 175287708 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:175287708T>A ENST00000272732.6 + 6 932 c.850T>A c.(850-852)Tct>Act p.S284T SCRN3_ENST00000548921.1_3'UTR|SCRN3_ENST00000409673.3_Missense_Mutation_p.S277T NM_001193528.1|NM_024583.4 NP_001180457.1|NP_078859.2 Q0VDG4 SCRN3_HUMAN secernin 3 284 proteolysis dipeptidase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3) 13 OV - Ovarian serous cystadenocarcinoma(117;0.229) AAGCATGGTTTCTATTTTACC 0.408000 42 46 0 0 0.014410 0 0 TRMT61B 55006 broad.mit.edu 37 2 29074027 29074027 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:29074027T>C ENST00000306108.5 - 5 1246 c.1223A>G c.(1222-1224)aAa>aGa p.K408R NM_017910.3 NP_060380.3 Q9BVS5 TR61B_HUMAN tRNA methyltransferase 61 homolog B (S. cerevisiae) 408 tRNA (adenine-N1-)-methyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 13 AGATTCTACTTTTTGAGCTAA 0.378000 7 39 0 0 0.001984 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79059741 79059741 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:79059741C>A ENST00000388820.4 - 18 3049 c.2839G>T c.(2839-2841)Gct>Tct p.A947S ADAMTS7_ENST00000566303.1_Intron NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 947 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 TTCCCCACAGCCCAGGTGGCC 0.652000 16 19 9.16793e-09 1.09107e-08 0.004990 1 0 CALB1 793 broad.mit.edu 37 8 91081386 91081386 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:91081386A>T ENST00000265431.3 - 4 492 c.311T>A c.(310-312)aTg>aAg p.M104K CALB1_ENST00000518457.1_Missense_Mutation_p.M47K NM_004929.2 NP_004920.1 P05937 CALB1_HUMAN calbindin 1, 28kDa 104 EF-hand 3. nucleus calcium ion binding|vitamin D binding breast(1)|kidney(1)|lung(8)|pancreas(1) 11 BRCA - Breast invasive adenocarcinoma(11;0.00953) TTATACCTTCATGAATTCCTC 0.378000 8 57 0 0 0.006214 0 0 OR4P4 81300 broad.mit.edu 37 11 55405873 55405873 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:55405873G>A ENST00000314612.2 + 1 40 c.40G>A c.(40-42)Ggg>Agg p.G14R NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G14W(1) autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 TATTCTCTTGGGGTTTTCCCA 0.313000 75 112 0 0 0.014410 0 0 IQSEC2 23096 broad.mit.edu 37 X 53276218 53276218 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:53276218G>A ENST00000396435.3 - 8 2882 c.2682C>T c.(2680-2682)gaC>gaT p.D894D IQSEC2_ENST00000375368.5_Silent_p.D884D|IQSEC2_ENST00000375365.2_Silent_p.D689D NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 884 SEC7. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 GACTGTACATGTCGGTATTGA 0.517000 9 46 0 0 0.004482 0 0 CPT1C 126129 broad.mit.edu 37 19 50204810 50204810 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:50204810C>A ENST00000392518.4 + 7 984 c.612C>A c.(610-612)gtC>gtA p.V204V CPT1C_ENST00000598293.1_Silent_p.V204V|CPT1C_ENST00000354199.5_Silent_p.V204V|CPT1C_ENST00000323446.5_Silent_p.V204V|CPT1C_ENST00000405931.2_Silent_p.V204V NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 204 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) GGACCGCGGTCCTGGCGCAGG 0.672000 27 31 2.12542e-12 2.76341e-12 0.006320 1 0 USH2A 7399 broad.mit.edu 37 1 215955411 215955411 + Silent SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:215955411C>G ENST00000366943.2 - 54 11099 c.10713G>C c.(10711-10713)acG>acC p.T3571T USH2A_ENST00000307340.3_Silent_p.T3571T O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3571 Fibronectin type-III 20. T -> M (in USH2A). 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) AGCCAGCAACCGTGCAAGCTT 0.443000 HNSCC(13;0.011) 37 62 0 0 0.006230 0 0 GLI2 2736 broad.mit.edu 37 2 121555035 121555035 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:121555035G>A ENST00000452319.1 + 2 199 c.139G>A c.(139-141)Gcc>Acc p.A47T GLI2_ENST00000361492.4_Missense_Mutation_p.A47T|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 47 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) AGCGGTAGCTGCCCAAGGAGG 0.572000 29 66 0 0 0.006320 0 0 FBXW10 10517 broad.mit.edu 37 17 18653137 18653137 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:18653137T>C ENST00000308799.4 + 3 992 c.773T>C c.(772-774)tTg>tCg p.L258S FBXW10_ENST00000395667.1_Missense_Mutation_p.L258S|FBXW10_ENST00000395665.4_Missense_Mutation_p.L258S|FBXW10_ENST00000301938.4_Missense_Mutation_p.L258S Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 258 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 TGCAATCTATTGGTTGACCTG 0.468000 50 162 0 0 0.014410 0 0 DDX56 54606 broad.mit.edu 37 7 44609415 44609415 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:44609415G>A ENST00000258772.5 - 9 1318 c.1212C>T c.(1210-1212)ctC>ctT p.L404L DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Silent_p.L364L NM_001257189.1|NM_019082.3 NP_001244118.1|NP_061955.1 Q9NY93 DDX56_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 56 404 Helicase C-terminal. rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1) 16 TACCTCCACTGAGAAGCTCCT 0.507000 12 12 0 0 0.013537 0 0 ABCB1 5243 broad.mit.edu 37 7 87173503 87173503 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:87173503G>T ENST00000265724.3 - 18 2570 c.2153C>A c.(2152-2154)gCc>gAc p.A718D ABCB1_ENST00000543898.1_Missense_Mutation_p.A654D NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 718 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) ATTTATAATGGCACAAAATAC 0.358000 33 55 1.39649e-27 2.154e-27 0.012213 1 0 NR0B1 190 broad.mit.edu 37 X 30326619 30326619 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:30326619G>T ENST00000378970.4 - 1 1096 c.862C>A c.(862-864)Cgc>Agc p.R288S NR0B1_ENST00000453287.1_Missense_Mutation_p.R288S NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 288 Ligand-binding (By similarity). adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) CAGCAGTTGCGCACCAGCACC 0.632000 OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 7 2.56e-06 2.87662e-06 0.009096 1 0 AMER1 139285 broad.mit.edu 37 X 63413127 63413127 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:63413127C>T ENST00000330258.3 - 2 312 c.40G>A c.(40-42)Gct>Act p.A14T AMER1_ENST00000374869.3_Missense_Mutation_p.A14T|AMER1_ENST00000403336.1_Missense_Mutation_p.A14T NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) GAGGCTGCAGCTCCCTTGGCC 0.557000 20 88 0 0 0.014323 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821198 5821198 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:5821198G>T ENST00000381095.3 - 5 2148 c.1521C>A c.(1519-1521)ctC>ctA p.L507L NLGN4X_ENST00000538097.1_Silent_p.L507L|NLGN4X_ENST00000275857.6_Silent_p.L507L|NLGN4X_ENST00000381092.1_Silent_p.L507L|NLGN4X_ENST00000381093.2_Silent_p.L527L NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 507 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 TACAACTGAAGAGCTCGGTGG 0.537000 17 53 3.45872e-05 3.74527e-05 0.004007 1 0 TUBGCP6 85378 broad.mit.edu 37 22 50665439 50665439 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr22:50665439C>A ENST00000439308.2 - 6 1972 c.1480G>T c.(1480-1482)Gcg>Tcg p.A494S TUBGCP6_ENST00000248846.5_Missense_Mutation_p.A494S NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 494 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) GTGGGAAACGCGGCCCTGGGG 0.687000 4 10 0.000602214 0.000636383 0.000602 1 0 ZNF649 65251 broad.mit.edu 37 19 52394076 52394076 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:52394076G>A ENST00000354957.3 - 5 1597 c.1313C>T c.(1312-1314)gCt>gTt p.A438V ZNF649_ENST00000600738.1_Missense_Mutation_p.A410V|CTC-429C10.2_ENST00000600329.1_RNA NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 438 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) ATAGAAGTAAGCTTTCTCACA 0.448000 99 195 0 0 0.014410 0 0 ZNF157 7712 broad.mit.edu 37 X 47272966 47272966 + Silent SNP T T G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:47272966T>G ENST00000377073.3 + 4 1580 c.1494T>G c.(1492-1494)cgT>cgG p.R498R NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 498 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 GGTCCTGGCGTTGTACAATGA 0.502000 20 79 0 0 0.014323 0 0 GYS1 2997 broad.mit.edu 37 19 49488819 49488819 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:49488819C>A ENST00000323798.3 - 5 918 c.722G>T c.(721-723)cGa>cTa p.R241L GYS1_ENST00000541188.1_Missense_Mutation_p.R161L|GYS1_ENST00000540532.1_Missense_Mutation_p.R161L|GYS1_ENST00000263276.6_Missense_Mutation_p.R177L|GYS1_ENST00000544287.1_Intron NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 241 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) CATGCAGTATCGGTGGTAGAT 0.577000 26 56 4.87955e-14 6.51482e-14 0.005443 1 0 ALX1 8092 broad.mit.edu 37 12 85677506 85677506 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:85677506C>T ENST00000316824.3 + 2 538 c.383C>T c.(382-384)tCc>tTc p.S128F NM_006982.2 NP_008913.2 Q15699 ALX1_HUMAN ALX homeobox 1 128 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.S128C(1) breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1) 26 GBM - Glioblastoma multiforme(134;0.134) AGCAATGTATCCAGCAGTAAG 0.478000 41 38 0 0 0.008740 0 0 MROH2B 133558 broad.mit.edu 37 5 41038946 41038946 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:41038946C>A ENST00000399564.4 - 21 2556 c.2106G>T c.(2104-2106)atG>atT p.M702I MROH2B_ENST00000506092.2_Missense_Mutation_p.M257I NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CATAGATGACCATGACATCTG 0.453000 19 57 7.41877e-09 8.84318e-09 0.012319 1 0 NAV3 89795 broad.mit.edu 37 12 78553062 78553062 + Missense_Mutation SNP A A C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:78553062A>C ENST00000397909.2 + 23 5038 c.4865A>C c.(4864-4866)cAa>cCa p.Q1622P NAV3_ENST00000228327.6_Missense_Mutation_p.Q1622P|NAV3_ENST00000266692.7_Missense_Mutation_p.Q1445P|NAV3_ENST00000536525.2_Missense_Mutation_p.Q1622P Q8IVL0 NAV3_HUMAN neuron navigator 3 1622 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ACAGCGGAACAAAAGGTATGT 0.388000 HNSCC(70;0.22) 13 42 0 0 0.002450 0 0 RHCG 51458 broad.mit.edu 37 15 90019999 90019999 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:90019999G>T ENST00000268122.4 - 9 1366 c.1298C>A c.(1297-1299)gCg>gAg p.A433E RHCG_ENST00000544600.1_Missense_Mutation_p.A433E NM_016321.1 NP_057405.1 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 433 amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(78;0.0237)|all_lung(78;0.0478) CCAGTAGACCGCATCCTCAAA 0.562000 26 50 2.08973e-25 3.18374e-25 0.005443 1 0 ERVW-1 30816 broad.mit.edu 37 7 92099669 92099669 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:92099669G>A ENST00000493463.2 - 1 950 c.27C>T c.(25-27)ctC>ctT p.L9L AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000603053.1_Silent_p.L9L|ERVW-1_ENST00000604270.1_Intron NM_014590.3 NP_055405.3 Q9UQF0 ENW1_HUMAN 9 syncytium formation integral to membrane|plasma membrane|virion endometrium(1)|large_intestine(1)|lung(15) 17 gaacagtaaagagaaaaatat 0.458000 4 40 0 0 0.009096 0 0 FAT4 79633 broad.mit.edu 37 4 126336137 126336137 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:126336137G>T ENST00000394329.3 + 5 6032 c.6019G>T c.(6019-6021)Gat>Tat p.D2007Y FAT4_ENST00000335110.5_Missense_Mutation_p.D305Y NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2007 Cadherin 19. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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 AAAAGCTTTGGATCGGGAAAG 0.443000 75 48 2.15109e-50 3.5067e-50 0.014410 1 0 CEP104 9731 broad.mit.edu 37 1 3740094 3740094 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:3740094C>A ENST00000378230.3 - 19 2721 c.2397G>T c.(2395-2397)ttG>ttT p.L799F NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa 799 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 ATTCCGTCAGCAAGTGCTCCG 0.502000 35 30 1.30998e-17 1.81401e-17 0.005524 1 0 CA6 765 broad.mit.edu 37 1 9019024 9019024 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:9019024C>A ENST00000377443.2 + 4 468 c.464C>A c.(463-465)gCg>gAg p.A155E CA6_ENST00000377436.3_Missense_Mutation_p.A155E|CA6_ENST00000377442.2_Missense_Mutation_p.A95E|CA6_ENST00000476083.1_3'UTR NM_001215.3 NP_001206.2 P23280 CAH6_HUMAN carbonic anhydrase VI 155 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) GCCCAAGATGCGCCGGATGGT 0.428000 103 52 4.60726e-43 7.42946e-43 0.014410 1 0 S100A11 6282 broad.mit.edu 37 1 152005294 152005294 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:152005294C>G ENST00000271638.2 - 3 281 c.162G>C c.(160-162)caG>caC p.Q54H NBPF18P_ENST00000432386.1_RNA|S100A11_ENST00000478109.1_5'UTR NM_005620.1 NP_005611.1 P31949 S10AB_HUMAN S100 calcium binding protein A11 54 negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction cytoplasm|nucleus|ruffle calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding large_intestine(1)|lung(1)|prostate(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CAGGGTCCTTCTGGTTCTGCA 0.403000 29 52 0 0 0.010818 0 0 LARP4B 23185 broad.mit.edu 37 10 875449 875449 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:875449T>A ENST00000316157.3 - 10 1041 c.1001A>T c.(1000-1002)cAg>cTg p.Q334L NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 334 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 GTAGCGCTGCTGGGCATACAG 0.517000 38 19 0 0 0.005524 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628289 29628289 + Silent SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:29628289A>T ENST00000278882.3 + 6 671 c.291A>T c.(289-291)atA>atT p.I97I FRG1B_ENST00000439954.2_Silent_p.I102I|FRG1B_ENST00000358464.4_Silent_p.I97I endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CAGGGGACATAGAAGCAAAAA 0.378000 28 237 0 0 0.014410 0 0 OLIG3 167826 broad.mit.edu 37 6 137814953 137814953 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:137814953G>C ENST00000367734.2 - 1 578 c.355C>G c.(355-357)Cgc>Ggc p.R119G NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 119 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) GAGAGCTTGCGCACCGACGGC 0.602000 17 50 0 0 0.004990 0 0 IGSF9B 22997 broad.mit.edu 37 11 133790844 133790844 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:133790844G>T ENST00000321016.8 - 18 3006 c.2776C>A c.(2776-2778)Cca>Aca p.P926T IGSF9B_ENST00000533871.2_Missense_Mutation_p.P926T Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 926 Pro-rich. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CTGTATGCTGGTGGTGGCAGG 0.706000 32 21 2.80507e-11 3.55405e-11 0.012213 1 0 RGL2 5863 broad.mit.edu 37 6 33264212 33264212 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:33264212T>C ENST00000497454.1 - 5 944 c.449A>G c.(448-450)gAc>gGc p.D150G RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_Missense_Mutation_p.D68G|PFDN6_ENST00000463584.1_Intron NM_001243738.1|NM_004761.4 NP_001230667.1|NP_004752.1 O15211 RGL2_HUMAN ral guanine nucleotide dissociation stimulator-like 2 150 N-terminal Ras-GEF. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 34 CTCTAGTTCGTCGGTAGGATG 0.522000 33 18 0 0 0.005524 0 0 FOXP3 50943 broad.mit.edu 37 X 49108105 49108105 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:49108105G>A ENST00000557224.1 - 9 1060 c.1061C>T c.(1060-1062)gCg>gTg p.A354V FOXP3_ENST00000376207.4_Intron|FOXP3_ENST00000376197.1_Missense_Mutation_p.A339V|FOXP3_ENST00000455775.2_Intron|FOXP3_ENST00000518685.1_Intron|FOXP3_ENST00000376199.2_Intron Q9BZS1 FOXP3_HUMAN forkhead box P3 389 B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen cytoplasm|nucleus|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1) 10 Ovarian(276;0.236) CCCAGTCACCGCCACCTCAGA 0.572000 9 18 0 0 0.004482 0 0 CHDC2 286464 broad.mit.edu 37 X 36122647 36122647 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:36122647G>T ENST00000378660.1 + 8 1072 c.884G>T c.(883-885)tGc>tTc p.C295F CHDC2_ENST00000313548.4_Missense_Mutation_p.C295F calponin homology domain containing 2 GTGCCATACTGCAGCAATAAT 0.343000 23 92 6.07407e-21 8.83825e-21 0.007291 1 0 HFM1 164045 broad.mit.edu 37 1 91843694 91843694 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:91843694A>G ENST00000370425.3 - 11 1381 c.1283T>C c.(1282-1284)gTa>gCa p.V428A HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.V107A NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 428 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TCTGCTAACTACAACTTCAAG 0.323000 19 16 0 0 0.008871 0 0 HK3 3101 broad.mit.edu 37 5 176318482 176318482 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:176318482C>G ENST00000292432.5 - 3 257 c.166G>C c.(166-168)Ggt>Cgt p.G56R NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 56 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCATGGAACCCAAGAGGCTG 0.627000 30 28 0 0 0.009535 0 0 GGN 199720 broad.mit.edu 37 19 38876144 38876144 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:38876144G>T ENST00000334928.6 - 3 1890 c.1758C>A c.(1756-1758)ttC>ttA p.F586L GGN_ENST00000591809.1_Intron NM_152657.3 NP_689870.3 Q86UU5 GGN_HUMAN gametogenetin 586 Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity). cell differentiation|multicellular organismal development|spermatogenesis breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TAAGCACCTGGAAGGGCAGCC 0.667000 15 27 8.60227e-14 1.14237e-13 0.004007 1 0 IQSEC3 440073 broad.mit.edu 37 12 266858 266858 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:266858G>A ENST00000538872.1 + 7 2559 c.2441G>A c.(2440-2442)cGa>cAa p.R814Q IQSEC3_ENST00000326261.4_Missense_Mutation_p.R814Q|IQSEC3_ENST00000382841.2_Missense_Mutation_p.R511Q Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 814 SEC7. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CGAAACCTTCGAGGTGAGGAG 0.587000 5 57 0 0 0.000602 0 0 GTF2H3 2967 broad.mit.edu 37 12 124144433 124144433 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:124144433G>A ENST00000543341.2 + 11 807 c.776G>A c.(775-777)cGa>cAa p.R259Q GTF2H3_ENST00000228955.7_Missense_Mutation_p.R218Q NM_001271867.1|NM_001516.3 NP_001258796.1|NP_001507.2 Q13889 TF2H3_HUMAN general transcription factor IIH, polypeptide 3, 34kDa 259 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction core TFIIH complex|holo TFIIH complex damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362) TTCTGTCATCGAAATCTCATT 0.413000 Nucleotide excision repair (NER) 16 68 0 0 0.007413 0 0 RNF133 168433 broad.mit.edu 37 7 122338764 122338764 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:122338764C>A ENST00000340112.2 - 1 446 c.209G>T c.(208-210)aGa>aTa p.R70I CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 70 PA. endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 TCCTGCCACTCTCTTCAAAGT 0.433000 63 78 2.44918e-20 3.53613e-20 0.014410 1 0 GCC1 79571 broad.mit.edu 37 7 127224972 127224972 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:127224972T>A ENST00000321407.2 - 1 689 c.265A>T c.(265-267)Act>Tct p.T89S GCC1_ENST00000497650.1_Intron NM_024523.5 NP_078799.2 Q96CN9 GCC1_HUMAN GRIP and coiled-coil domain containing 1 89 Golgi membrane|plasma membrane protein binding breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TCGCTGTGAGTGGAGCACCGG 0.597000 26 44 0 0 0.003954 0 0 ZNF528 84436 broad.mit.edu 37 19 52919907 52919907 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:52919907G>T ENST00000360465.3 + 7 2228 c.1802G>T c.(1801-1803)gGa>gTa p.G601V ZNF528_ENST00000391788.2_3'UTR NM_032423.2 NP_115799.2 Q3MIS6 ZN528_HUMAN zinc finger protein 528 601 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G601A(1) breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) ATTCACATTGGAGAGAAACCT 0.418000 34 62 9.80977e-26 1.4976e-25 0.004289 1 0 NLRP12 91662 broad.mit.edu 37 19 54297343 54297343 + Missense_Mutation SNP G G T rs146786265 by1000genomes TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:54297343G>T ENST00000324134.6 - 10 3314 c.3146C>A c.(3145-3147)gCg>gAg p.A1049E NLRP12_ENST00000351894.4_Missense_Mutation_p.A937E|NLRP12_ENST00000345770.5_Missense_Mutation_p.A994E|NLRP12_ENST00000391773.1_Missense_Mutation_p.A1050E|NLRP12_ENST00000391772.1_Missense_Mutation_p.A880E|NLRP12_ENST00000535162.1_Missense_Mutation_p.A992E|NLRP12_ENST00000391775.3_Missense_Mutation_p.A992E|NLRP12_ENST00000354278.3_Missense_Mutation_p.A880E NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 1049 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TACTCGAAGCGCTGCCAACCT 0.463000 21 54 5.35356e-11 6.7258e-11 0.002780 1 0 PCDHGA12 26025 broad.mit.edu 37 5 140811002 140811002 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:140811002G>A ENST00000252085.3 + 1 818 c.676G>A c.(676-678)Gcg>Acg p.A226T PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACAGGCACCGCGCGCATCCG 0.657000 33 12 0 0 0.013726 0 0 SSFA2 6744 broad.mit.edu 37 2 182779977 182779977 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:182779977C>T ENST00000431877.2 + 11 1789 c.1610C>T c.(1609-1611)gCt>gTt p.A537V SSFA2_ENST00000320370.7_Missense_Mutation_p.A537V|SSFA2_ENST00000409001.1_Missense_Mutation_p.A537V|SSFA2_ENST00000428267.2_Missense_Mutation_p.A384V|SSFA2_ENST00000409136.1_Missense_Mutation_p.A46V NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 537 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) GGGAGTAGTGCTGATAGTTGT 0.423000 66 82 0 0 0.014410 0 0 DCC 1630 broad.mit.edu 37 18 50866223 50866223 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr18:50866223G>A ENST00000442544.2 + 15 2921 c.2305G>A c.(2305-2307)Gct>Act p.A769T DCC_ENST00000412726.1_Missense_Mutation_p.A617T|DCC_ENST00000581580.1_Missense_Mutation_p.A424T NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 769 Fibronectin type-III 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GAGCCCTTACGCTGAGACAGT 0.448000 10 31 0 0 0.006214 0 0 SCN3A 6328 broad.mit.edu 37 2 165956828 165956828 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:165956828C>A ENST00000360093.3 - 22 4441 c.3950G>T c.(3949-3951)cGg>cTg p.R1317L SCN3A_ENST00000283254.7_Missense_Mutation_p.R1317L|SCN3A_ENST00000409101.3_Missense_Mutation_p.R1268L NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1317 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) GCCTTCAAACCGGGATAAGGC 0.403000 39 56 6.33695e-27 9.75419e-27 0.007835 1 0 SCN11A 11280 broad.mit.edu 37 3 38951680 38951680 + Nonsense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:38951680A>T ENST00000450244.1 - 8 1176 c.978T>A c.(976-978)taT>taA p.Y326* SCN11A_ENST00000456224.3_Nonsense_Mutation_p.Y326*|SCN11A_ENST00000444237.2_Nonsense_Mutation_p.Y326*|SCN11A_ENST00000302328.3_Nonsense_Mutation_p.Y326* Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 326 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GCTTACATTCATATTGTATGG 0.383000 44 17 0 0 0.010771 0 0 GOLGA6L6 727832 broad.mit.edu 37 15 20743947 20743947 + Silent SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:20743947A>G ENST00000427390.2 - 3 435 c.345T>C c.(343-345)caT>caC p.H115H NM_001145004.1 NP_001138476.1 A8MZA4 GG6L6_HUMAN golgin A6 family-like 6 115 NS(3)|endometrium(4)|kidney(1)|skin(3) 11 CCTGATGTTGATGGCTTGCCT 0.512000 2 7 0 0 0.004672 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84609214 84609214 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:84609214T>A ENST00000344803.2 + 4 3876 c.3829T>A c.(3829-3831)Tgt>Agt p.C1277S NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 GGTCCCTACCTGTGTCTTACA 0.552000 38 46 0 0 0.004289 0 0 FAM98C 147965 broad.mit.edu 37 19 38899416 38899416 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:38899416G>T ENST00000252530.5 + 8 963 c.944G>T c.(943-945)cGg>cTg p.R315L FAM98C_ENST00000343358.7_Missense_Mutation_p.R233L|FAM98C_ENST00000588262.1_Silent_p.P181P NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 315 p.R315L(1) endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GTTCCAGACCGGGGGGGCCGC 0.562000 24 69 9.86323e-18 1.36836e-17 0.003954 1 0 SMYD5 10322 broad.mit.edu 37 2 73446061 73446061 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:73446061G>T ENST00000389501.4 + 2 214 c.169G>T c.(169-171)Gca>Tca p.A57S SMYD5_ENST00000474652.1_3'UTR NM_006062.2 NP_006053.2 Q6GMV2 SMYD5_HUMAN SMYD family member 5 57 metal ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 CCTGGTGGCTGCACAGTTTCT 0.557000 17 44 2.37509e-13 3.13731e-13 0.010504 1 0 RIMBP2 23504 broad.mit.edu 37 12 130926460 130926460 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:130926460C>A ENST00000261655.4 - 8 1549 c.1386G>T c.(1384-1386)ccG>ccT p.P462P RIMBP2_ENST00000535703.1_Silent_p.P370P|RIMBP2_ENST00000536002.1_Silent_p.P370P NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 462 Fibronectin type-III 2. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GGAGCTGCCACGGCATCTGGT 0.587000 22 32 2.39556e-15 3.25081e-15 0.002780 1 0 VNN2 8875 broad.mit.edu 37 6 133073775 133073775 + Silent SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:133073775A>G ENST00000326499.6 - 4 775 c.651T>C c.(649-651)taT>taC p.Y217Y VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Silent_p.Y164Y NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 217 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) CACCAGGATCATAGAAGAATA 0.443000 42 95 0 0 0.006999 0 0 GPKOW 27238 broad.mit.edu 37 X 48979050 48979050 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:48979050G>T ENST00000156109.5 - 2 331 c.253C>A c.(253-255)Cgg>Agg p.R85R NM_015698.4 NP_056513.2 Q92917 GPKOW_HUMAN G patch domain and KOW motifs 85 nucleus nucleic acid binding breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2) 21 CCAGGGGGCCGGGCTGGTGGC 0.627000 12 23 1.08611e-07 1.24676e-07 0.010729 1 0 DDB1 1642 broad.mit.edu 37 11 61094321 61094321 + Silent SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:61094321T>A ENST00000301764.7 - 5 991 c.594A>T c.(592-594)cgA>cgT p.R198R DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 198 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 ATTCCTTTTCTCGGAGAGACA 0.522000 Nucleotide excision repair (NER) 97 158 0 0 0.014410 0 0 PDE4DIP 9659 broad.mit.edu 37 1 145075791 145075791 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:145075791G>T ENST00000369359.4 - 1 110 c.72C>A c.(70-72)cgC>cgA p.R24R PDE4DIP_ENST00000369345.4_Silent_p.R24R|PDE4DIP_ENST00000530740.1_Silent_p.R24R|PDE4DIP_ENST00000369348.3_Silent_p.R24R Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|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) AGTGAGCCCGGCGGGACGCGC 0.716000 T PDGFRB MPD 17 85 1.36565e-18 1.92326e-18 0.002780 1 0 CHRDL2 25884 broad.mit.edu 37 11 74408263 74408263 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:74408263A>G ENST00000263671.5 - 11 1541 c.1255T>C c.(1255-1257)Tgg>Cgg p.W419R CHRDL2_ENST00000376332.3_Silent_p.A400A NM_015424.3 NP_056239.3 Q6WN34 CRDL2_HUMAN chordin-like 2 0 cartilage development|cell differentiation|ossification extracellular region|mitochondrion endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2) 15 Hepatocellular(1;0.098) CGTGGGGGCCAGCGAGCAGTC 0.587000 40 68 0 0 0.006999 0 0 FRMD1 79981 broad.mit.edu 37 6 168457935 168457935 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:168457935G>T ENST00000283309.6 - 11 1556 c.1492C>A c.(1492-1494)Cca>Aca p.P498T FRMD1_ENST00000440994.2_Missense_Mutation_p.P430T|FRMD1_ENST00000537786.1_Missense_Mutation_p.P269T|FRMD1_ENST00000432403.1_5'UTR NM_024919.3 NP_079195.3 Q8N878 FRMD1_HUMAN FERM domain containing 1 498 cytoskeleton binding endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 19 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GTGGGCGCTGGGTGCAGGGCC 0.672000 8 3 5.18039e-06 5.73461e-06 0.003080 1 0 ZNF592 9640 broad.mit.edu 37 15 85326320 85326320 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:85326320C>T ENST00000299927.3 + 1 436 c.414C>T c.(412-414)ttC>ttT p.F138F ZNF592_ENST00000560079.2_Silent_p.F138F Q92610 ZN592_HUMAN zinc finger protein 592 138 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) TACCCACCTTCAACCAGTTCA 0.478000 42 139 0 0 0.010771 0 0 TTN 7273 broad.mit.edu 37 2 179598401 179598401 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:179598401T>C ENST00000589042.1 - 53 15939 c.15715A>G c.(15715-15717)Acg>Gcg p.T5239A TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T3995A|TTN_ENST00000591111.1_Missense_Mutation_p.T4922A|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4922 Ig-like 33. 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) GCCAGGCACGTGTATTTGCCT 0.383000 48 119 0 0 0.014410 0 0 EPG5 57724 broad.mit.edu 37 18 43492360 43492360 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr18:43492360C>A ENST00000282041.5 - 22 3912 c.3878G>T c.(3877-3879)cGc>cTc p.R1293L EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1293 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 GTGGGCCCAGCGATAAATCAG 0.537000 6 75 1.06961e-07 1.23736e-07 0.003080 1 0 ISL2 64843 broad.mit.edu 37 15 76630854 76630854 + Splice_Site SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:76630854C>A ENST00000290759.4 + 3 670 c.511_splice c.e3+1 p.P170_splice NM_145805.1 NP_665804.1 Q96A47 ISL2_HUMAN ISL LIM homeobox 2 170 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 TGCATCTGCCCGGTAAGCGCG 0.726000 18 22 3.52763e-06 3.92838e-06 0.004990 1 0 PXDN 7837 broad.mit.edu 37 2 1652817 1652817 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:1652817G>A ENST00000252804.4 - 17 2785 c.2735C>T c.(2734-2736)gCa>gTa p.A912V NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 912 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CACGTTGGATGCGTCTATGTA 0.672000 18 22 0 0 0.014323 0 0 OR4S1 256148 broad.mit.edu 37 11 48327915 48327915 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:48327915C>A ENST00000319988.1 + 1 141 c.141C>A c.(139-141)atC>atA p.I47I NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 TCATCACCATCAATGCTAGAA 0.448000 69 88 6.12789e-21 8.89918e-21 0.014410 1 0 MYO15A 51168 broad.mit.edu 37 17 18030103 18030103 + Splice_Site SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:18030103A>G ENST00000205890.5 + 6 4204 c.e6-1 NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CTGTCTCCCCAGGCACCTCTT 0.552000 52 97 0 0 0.014410 0 0 ZNF479 90827 broad.mit.edu 37 7 57194381 57194381 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:57194381C>T ENST00000331162.4 - 3 354 c.84G>A c.(82-84)gaG>gaA p.E28E NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 28 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) ATTGCCATTCCTCCAGAGAGA 0.438000 30 46 0 0 0.012213 0 0 SPTA1 6708 broad.mit.edu 37 1 158582607 158582607 + Splice_Site SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:158582607C>T ENST00000368148.3 - 51 7314 c.7134_splice c.e51+1 p.Q2378_splice SPTA1_ENST00000368147.3_Splice_Site_p.Q2375_splice NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2378 EF-hand 3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.Q2378H(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AGAATCGGACCTGCTTCATGT 0.458000 26 51 0 0 0.006320 0 0 SNHG14 104472715 broad.mit.edu 37 15 25423729 25423729 + RNA SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:25423729C>A ENST00000441592.2 + 0 300 TGCTTTGGGACCGCTGGCCCC 0.617000 7 21 0.00198382 0.00207576 0.001984 1 0 TINAG 27283 broad.mit.edu 37 6 54214671 54214671 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:54214671C>A ENST00000259782.4 + 7 1153 c.1057C>A c.(1057-1059)Cct>Act p.P353T NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 353 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) TCAATGTTCTCCTCCATACAG 0.408000 11 51 7.93312e-07 8.9684e-07 0.002450 1 0 ABI3BP 25890 broad.mit.edu 37 3 100621495 100621495 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:100621495C>A ENST00000471714.1 - 3 425 c.316G>T c.(316-318)Gct>Tct p.A106S ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000284322.5_Missense_Mutation_p.A106S|ABI3BP_ENST00000495063.1_Missense_Mutation_p.A106S Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 106 extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 GGAGGTGGAGCAGGTCGCACA 0.398000 17 27 2.70639e-06 3.03654e-06 0.014323 1 0 RASSF3 283349 broad.mit.edu 37 12 65088583 65088583 + Missense_Mutation SNP G G T rs147804503 TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:65088583G>T ENST00000542104.1 + 5 728 c.608G>T c.(607-609)cGc>cTc p.R203L RASSF3_ENST00000336061.2_Missense_Mutation_p.R203L NM_178169.3 NP_835463.1 Q86WH2 RASF3_HUMAN Ras association (RalGDS/AF-6) domain family member 3 203 SARAH. signal transduction cytoplasm|microtubule identical protein binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132) GBM - Glioblastoma multiforme(28;0.0611) AATTTCTTGCGCATCTTGGAC 0.473000 39 56 2.26627e-22 3.37001e-22 0.007835 1 0 PCDHGB6 56100 broad.mit.edu 37 5 140789266 140789266 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:140789266G>T ENST00000520790.1 + 1 1497 c.1497G>T c.(1495-1497)ctG>ctT p.L499L PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 p.L499L(1) breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAGAGCCCCTGGCGGTGTCGT 0.642000 15 7 2.35188e-11 2.98493e-11 0.006122 1 0 FRG1 2483 broad.mit.edu 37 4 190878615 190878615 + Silent SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:190878615A>T ENST00000226798.4 + 6 717 c.495A>T c.(493-495)atA>atT p.I165I FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 165 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) CAGGGGACATAGAAGCAAAAA 0.378000 22 113 0 0 0.014410 0 0 LAMB4 22798 broad.mit.edu 37 7 107704266 107704266 + Missense_Mutation SNP C C T rs142967094 TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:107704266C>T ENST00000388781.3 - 22 3084 c.3001G>A c.(3001-3003)Gca>Aca p.A1001T LAMB4_ENST00000388780.3_Missense_Mutation_p.A1001T|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1001T NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1001 Laminin EGF-like 10. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TGGCAGTTTGCGCCCTGAGTG 0.527000 51 107 0 0 0.014410 0 0 USP2 9099 broad.mit.edu 37 11 119229766 119229766 + Silent SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:119229766A>T ENST00000260187.2 - 6 1434 c.1140T>A c.(1138-1140)ccT>ccA p.P380P USP2_ENST00000525735.1_Silent_p.P171P|USP2_ENST00000455332.2_Silent_p.P137P NM_004205.4 NP_004196.4 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 380 cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) GGTTGGACTTAGGTCTCAGTG 0.483000 39 15 0 0 0.010771 0 0 MAP1B 4131 broad.mit.edu 37 5 71492252 71492252 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:71492252G>A ENST00000296755.7 + 5 3368 c.3070G>A c.(3070-3072)Gac>Aac p.D1024N NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1024 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TGATGAGGAGGACAAAGCTGA 0.532000 37 11 0 0 0.004878 0 0 MMP16 4325 broad.mit.edu 37 8 89128829 89128829 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:89128829G>A ENST00000286614.6 - 6 1271 c.990C>T c.(988-990)acC>acT p.T330T MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 330 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 AGGGTCTGCCGGTTGGAGGCC 0.532000 78 56 0 0 0.014410 0 0 CDC37 11140 broad.mit.edu 37 19 10505718 10505718 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:10505718C>A ENST00000222005.2 - 5 758 c.705G>T c.(703-705)cgG>cgT p.R235R NM_007065.3 NP_008996.1 Q16543 CDC37_HUMAN cell division cycle 37 235 protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway unfolded protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06) GBM - Glioblastoma multiforme(1328;0.0318) TGAAGAACTGCCGGAAGCAGG 0.587000 78 22 4.97629e-18 6.9296e-18 0.014410 1 0 PCDHGA1 56114 broad.mit.edu 37 5 140712446 140712446 + Nonsense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:140712446T>A ENST00000517417.1 + 1 2195 c.2195T>A c.(2194-2196)tTa>tAa p.L732* PCDHGA1_ENST00000378105.3_Nonsense_Mutation_p.L732* NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGGCGGCTTAGCGAGCATG 0.652000 50 35 0 0 0.014410 0 0 PRSS8 5652 broad.mit.edu 37 16 31143906 31143906 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:31143906C>T ENST00000317508.6 - 5 812 c.549G>A c.(547-549)ctG>ctA p.L183L PRSS8_ENST00000568261.1_Silent_p.L129L NM_002773.3 NP_002764.1 Q16651 PRSS8_HUMAN protease, serine, 8 183 Peptidase S1. proteolysis extracellular space|integral to membrane|plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1) 8 GCTTGGGCGTCAGGAGGCTCA 0.612000 37 40 0 0 0.006230 0 0 WDPCP 51057 broad.mit.edu 37 2 63380060 63380060 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:63380060C>A ENST00000409120.1 - 11 5153 c.1603G>T c.(1603-1605)Ggc>Tgc p.G535C WDPCP_ENST00000272321.7_Missense_Mutation_p.G727C|WDPCP_ENST00000409199.1_Missense_Mutation_p.G535C|WDPCP_ENST00000398544.3_Missense_Mutation_p.G568C O95876 FRITZ_HUMAN WD repeat containing planar cell polarity effector 727 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1) 35 TGTTCTCTGCCGTCTTCTCTC 0.274000 10 29 1.05317e-09 1.28414e-09 0.002450 1 0 GFRA1 2674 broad.mit.edu 37 10 117885028 117885028 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:117885028C>T ENST00000439649.3 - 5 826 c.459G>A c.(457-459)gcG>gcA p.A153A GFRA1_ENST00000544592.1_Silent_p.A37A|GFRA1_ENST00000369236.1_Silent_p.A153A|GFRA1_ENST00000355422.6_Silent_p.A158A NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 158 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) TGCAGGCCTTCGCTGCATCCA 0.557000 4 14 0 0 0.009096 0 0 C6orf203 51250 broad.mit.edu 37 6 107361208 107361208 + Missense_Mutation SNP G G A rs150832095 byFrequency TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:107361208G>A ENST00000443043.1 + 3 934 c.259G>A c.(259-261)Gta>Ata p.V87I C6orf203_ENST00000405204.2_Missense_Mutation_p.V82I|C6orf203_ENST00000311381.5_Missense_Mutation_p.V82I|C6orf203_ENST00000489790.1_3'UTR NM_001142470.1 NP_001135942.1 Q9P0P8 CF203_HUMAN chromosome 6 open reading frame 203 82 large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1) 8 Breast(9;0.00124)|all_epithelial(6;0.0729) all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23) BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244) BRCA - Breast invasive adenocarcinoma(108;0.117) TCCTTTTTCCGTAAGACTCAA 0.333000 25 55 0 0 0.005443 0 0 NOL11 25926 broad.mit.edu 37 17 65722658 65722658 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:65722658G>A ENST00000253247.4 + 7 862 c.747G>A c.(745-747)ctG>ctA p.L249L NOL11_ENST00000535137.1_Silent_p.L67L NM_015462.3 NP_056277.2 Q9H8H0 NOL11_HUMAN nucleolar protein 11 249 nucleolus haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 11 all_cancers(12;1.54e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24) TTAAATCACTGCTGCTCAAGG 0.458000 33 42 0 0 0.013726 0 0 LILRA1 11024 broad.mit.edu 37 19 55106360 55106360 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:55106360G>T ENST00000453777.1 + 4 471 c.301G>T c.(301-303)Ggt>Tgt p.G101C LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.G101C|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 101 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CTGTTTCTACGGTAGCCACAC 0.607000 42 63 4.01765e-15 5.43222e-15 0.009718 1 0 KCNH1 3756 broad.mit.edu 37 1 211093374 211093374 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:211093374C>A ENST00000367007.4 - 7 1158 c.989G>T c.(988-990)cGg>cTg p.R330L KCNH1_ENST00000271751.4_Missense_Mutation_p.R357L NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 357 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) ACGGAGCAGCCGGACAACTTT 0.567000 29 62 6.38683e-12 8.26075e-12 0.008361 1 0 OPCML 4978 broad.mit.edu 37 11 132306621 132306621 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:132306621C>T ENST00000331898.7 - 5 1295 c.717G>A c.(715-717)aaG>aaA p.K239K OPCML_ENST00000541867.1_Silent_p.K239K|OPCML_ENST00000524381.1_Silent_p.K232K|OPCML_ENST00000374778.4_Silent_p.K198K|OPCML_ENST00000529038.1_5'UTR NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 239 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) TCAGGATGCCCTTCTGACCGA 0.502000 21 21 0 0 0.012319 0 0 GPKOW 27238 broad.mit.edu 37 X 48979051 48979051 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:48979051G>T ENST00000156109.5 - 2 330 c.252C>A c.(250-252)gcC>gcA p.A84A NM_015698.4 NP_056513.2 Q92917 GPKOW_HUMAN G patch domain and KOW motifs 84 nucleus nucleic acid binding breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2) 21 CAGGGGGCCGGGCTGGTGGCT 0.632000 12 23 1.08611e-07 1.24676e-07 0.010729 1 0 DZIP1L 199221 broad.mit.edu 37 3 137822454 137822454 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:137822454G>A ENST00000327532.2 - 2 722 c.360C>T c.(358-360)ggC>ggT p.G120G DZIP1L_ENST00000469243.1_Silent_p.G120G NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like 120 intracellular zinc ion binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 GCTGCTGCTGGCCCAGGCTGG 0.662000 10 14 0 0 0.008291 0 0 SNHG14 104472715 broad.mit.edu 37 15 25322271 25322271 + RNA SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:25322271C>A ENST00000549804.2 + 0 1243 SNORD116-12_ENST00000384468.1_RNA ATACCATCATCCTCATTGAAC 0.428000 24 76 1.66031e-10 2.06155e-10 0.003954 1 0 P4HA3 283208 broad.mit.edu 37 11 74013546 74013546 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:74013546G>T ENST00000331597.4 - 3 480 c.435C>A c.(433-435)gaC>gaA p.D145E P4HA3_ENST00000427714.2_Missense_Mutation_p.D145E NM_182904.3 NP_878907.1 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha polypeptide III 145 endoplasmic reticulum lumen iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) GCATGTACACGTCCTGCAGCC 0.552000 56 109 5.82218e-30 9.05537e-30 0.014410 1 0 USP32 84669 broad.mit.edu 37 17 58258936 58258936 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:58258936T>A ENST00000300896.4 - 32 4491 c.4297A>T c.(4297-4299)Aat>Tat p.N1433Y USP32_ENST00000592339.1_Missense_Mutation_p.N1103Y NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 1433 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) CCAGCCCCATTTTCTTTGCTG 0.552000 17 55 0 0 0.004007 0 0 TPTE 7179 broad.mit.edu 37 21 10959762 10959762 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr21:10959762G>T ENST00000298232.7 - 7 525 c.158C>A c.(157-159)gCt>gAt p.A53D TPTE_ENST00000342420.5_Intron|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.A71D NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 71 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) AACATTTTCAGCATCTTCAAC 0.363000 9 192 2.74318e-10 3.38917e-10 0.006214 1 0 IGKV1-5 28299 broad.mit.edu 37 2 89246879 89246879 + RNA SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:89246879G>T ENST00000496168.1 - 0 471 GCAGGCTGCTGATGGTGAGAG 0.478000 56 132 2.40265e-35 3.80845e-35 0.014410 1 0 PITPNC1 26207 broad.mit.edu 37 17 65628289 65628289 + Nonsense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:65628289A>T ENST00000580974.1 + 6 1093 c.397A>T c.(397-399)Aga>Tga p.R133* PITPNC1_ENST00000581322.1_Nonsense_Mutation_p.R133*|PITPNC1_ENST00000299954.9_Nonsense_Mutation_p.R133*|PITPNC1_ENST00000335257.6_Nonsense_Mutation_p.R133* NM_012417.3|NM_181671.2 NP_036549.2|NP_858057.1 Q9UKF7 PITC1_HUMAN phosphatidylinositol transfer protein, cytoplasmic 1 133 signal transduction cytoplasm lipid binding|phosphatidylinositol transporter activity|protein binding breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3) 17 all_cancers(12;3.03e-10) BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198) AGACGTGGAGAGAGAAGTTTG 0.433000 22 32 0 0 0.005443 0 0 CDH7 1005 broad.mit.edu 37 18 63547683 63547683 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr18:63547683C>A ENST00000397968.2 + 12 2337 c.1911C>A c.(1909-1911)ccC>ccA p.P637P CDH7_ENST00000323011.3_Silent_p.P637P NM_004361.2 NP_004352.2 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 637 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) AAAAAGAGCCCCTTATTTTTG 0.458000 10 18 0.000442599 0.000469042 0.006214 1 0 CCL1 6346 broad.mit.edu 37 17 32690143 32690143 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:32690143A>T ENST00000225842.3 - 1 107 c.38T>A c.(37-39)cTa>cAa p.L13Q NM_002981.1 NP_002972.1 P22362 CCL1_HUMAN chemokine (C-C motif) ligand 1 13 cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction extracellular space chemokine activity Ovarian(249;0.0443)|Breast(31;0.133) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155) CATCCCAGCTAGCAGCAAGCA 0.562000 20 30 0 0 0.003954 0 0 ATRX 546 broad.mit.edu 37 X 76939151 76939151 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:76939151C>G ENST00000373344.5 - 9 1811 c.1597G>C c.(1597-1599)Gag>Cag p.E533Q ATRX_ENST00000395603.3_Missense_Mutation_p.E495Q|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 533 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ATAGCAGTCTCAAGATTCTCA 0.393000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 159 124 0 0 0.014410 0 0 COL22A1 169044 broad.mit.edu 37 8 139603718 139603718 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:139603718C>T ENST00000303045.6 - 64 5088 c.4642G>A c.(4642-4644)Ggt>Agt p.G1548S COL22A1_ENST00000435777.1_Missense_Mutation_p.G1528S|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1548 Collagen-like 15.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCAGGTGCACCTGGGTCACCT 0.602000 HNSCC(7;0.00092) 3 19 0 0 0.004672 0 0 RIC3 79608 broad.mit.edu 37 11 8132424 8132424 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:8132424C>T ENST00000396677.2 - 3 444 c.445G>A c.(445-447)Gag>Aag p.E149K RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000309737.6_Missense_Mutation_p.E311K|RIC3_ENST00000539720.1_Missense_Mutation_p.E262K|RIC3_ENST00000425599.2_Missense_Mutation_p.E230K|RIC3_ENST00000335425.7_Missense_Mutation_p.E129K|RIC3_ENST00000343202.4_Missense_Mutation_p.E310K Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone 311 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) GCAGGATCCTCGTCTTCATGA 0.483000 80 94 0 0 0.014410 0 0 G6PC 2538 broad.mit.edu 37 17 41052904 41052904 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:41052904G>A ENST00000253801.2 + 1 90 c.11G>A c.(10-12)gGa>gAa p.G4E G6PC_ENST00000592383.1_Missense_Mutation_p.G4E|G6PC_ENST00000585489.1_Missense_Mutation_p.G4E NM_000151.3 NP_000142.2 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 4 gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) ATGGAGGAAGGAATGAATGTT 0.498000 10 46 0 0 0.008291 0 0 EP400 57634 broad.mit.edu 37 12 132510276 132510276 + Silent SNP G G T rs79827647 by1000genomes TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:132510276G>T ENST00000333577.4 + 26 5158 c.5049G>T c.(5047-5049)gcG>gcT p.A1683A EP400_ENST00000389561.2_Silent_p.A1647A|EP400_ENST00000332482.4_Silent_p.A1610A|EP400_ENST00000330386.6_Silent_p.A1566A|EP400_ENST00000389562.2_Silent_p.A1646A Q96L91 EP400_HUMAN E1A binding protein p400 1683 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TGTCTCAGGCGGGCGCTGTGC 0.692000 5 24 1.23904e-05 1.35948e-05 0.000602 1 0 ROS1 6098 broad.mit.edu 37 6 117665282 117665282 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:117665282C>A ENST00000368508.3 - 27 4663 c.4465G>T c.(4465-4467)Gtt>Ttt p.V1489F ROS1_ENST00000368507.3_Missense_Mutation_p.V1483F|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1489 Fibronectin type-III 6. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GCATAATAAACCAGGTATGTT 0.398000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 17 32 5.35267e-07 6.07887e-07 0.007413 1 0 MUC4 4585 broad.mit.edu 37 3 195479980 195479980 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:195479980G>A ENST00000463781.3 - 20 15909 c.15450C>T c.(15448-15450)gcC>gcT p.A5150A MUC4_ENST00000346145.4_Silent_p.A914A|MUC4_ENST00000349607.4_Silent_p.A863A|MUC4_ENST00000475231.1_Silent_p.A5098A NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1907 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGTCAGTGAAGGCTGGGGGGC 0.592000 77 191 0 0 0.014410 0 0 NCCRP1 342897 broad.mit.edu 37 19 39691333 39691333 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:39691333G>C ENST00000339852.4 + 6 787 c.765G>C c.(763-765)gaG>gaC p.E255D NM_001001414.1 NP_001001414.1 Q6ZVX7 NCRP1_HUMAN non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) 255 FBA. protein catabolic process kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 10 ACCGCATGGAGCCTGGTGGGC 0.632000 121 196 0 0 0.014410 0 0 PEG3 5178 broad.mit.edu 37 19 57325220 57325220 + Missense_Mutation SNP C C G rs140891968 TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:57325220C>G ENST00000326441.9 - 10 4953 c.4590G>C c.(4588-4590)atG>atC p.M1530I ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.M1530I|PEG3_ENST00000598410.1_Missense_Mutation_p.M1406I|PEG3_ENST00000593695.1_Missense_Mutation_p.M1404I|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1530 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) CAAATATGATCATGCTGGCAT 0.478000 44 69 0 0 0.009718 0 0 FAM9B 171483 broad.mit.edu 37 X 8997416 8997416 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:8997416G>A ENST00000362066.3 - 5 633 c.445C>T c.(445-447)Ctt>Ttt p.L149F FAM9B_ENST00000428477.1_Missense_Mutation_p.L109F|FAM9B_ENST00000327220.5_Missense_Mutation_p.L109F Q8IZU0 FAM9B_HUMAN family with sequence similarity 9, member B 109 nucleus breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1) 11 Hepatocellular(5;0.219) TATTCTTCAAGGACATTTAGC 0.363000 4 25 0 0 0.009096 0 0 AHNAK 79026 broad.mit.edu 37 11 62296993 62296993 + Silent SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:62296993T>C ENST00000378024.4 - 5 5170 c.4896A>G c.(4894-4896)ccA>ccG p.P1632P AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1632 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) ACTTCCCTTCTGGACCTTCAA 0.473000 99 142 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179610817 179610817 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:179610817G>T ENST00000360870.5 - 46 16532 c.16310C>A c.(16309-16311)aCt>aAt p.T5437N TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8944 Ig-like 35. 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) AATTTTAAGAGTGTGACTTCC 0.418000 96 101 5.71645e-57 9.3599e-57 0.014410 1 0 MAGEB4 4115 broad.mit.edu 37 X 30260834 30260834 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:30260834C>A ENST00000378982.2 + 1 778 c.582C>A c.(580-582)acC>acA p.T194T NM_002367.3 NP_002358.1 O15481 MAGB4_HUMAN melanoma antigen family B, 4 194 MAGE. breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 GTGCCTGGACCCTTCCAAGGA 0.522000 16 17 0.00316338 0.00328234 0.003163 1 0 OR10K1 391109 broad.mit.edu 37 1 158435444 158435444 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:158435444C>T ENST00000289451.2 + 1 173 c.93C>T c.(91-93)ttC>ttT p.F31F NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) TTGTTATCTTCCTGCTCCTCT 0.517000 40 65 0 0 0.006999 0 0 DMD 1756 broad.mit.edu 37 X 33146266 33146266 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:33146266G>A ENST00000378677.2 - 1 211 c.17C>T c.(16-18)tCt>tTt p.S6F DMD_ENST00000357033.4_Intron|DMD_ENST00000288447.4_Intron NM_004009.3|NM_004010.3|NM_004011.3|NM_004012.3|NM_004014.2 NP_004000.1|NP_004001.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 0 Actin-binding. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTACTCACCAGATGAGACCTC 0.418000 4 17 0 0 0.000602 0 0 ZNF568 374900 broad.mit.edu 37 19 37440567 37440567 + Nonsense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:37440567C>A ENST00000415168.1 + 5 696 c.320C>A c.(319-321)tCa>tAa p.S107* ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Nonsense_Mutation_p.S171* NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 171 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATTGTTACTTCAAGACAAAGC 0.338000 8 93 0.000157383 0.000168463 0.003080 1 0 COL11A1 1301 broad.mit.edu 37 1 103487279 103487279 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:103487279G>T ENST00000358392.2 - 9 1645 c.1328C>A c.(1327-1329)cCa>cAa p.P443Q COL11A1_ENST00000512756.1_Missense_Mutation_p.P315Q|COL11A1_ENST00000353414.4_Missense_Mutation_p.P392Q|COL11A1_ENST00000370096.3_Missense_Mutation_p.P431Q NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 431 Triple-helical region (interrupted). 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) AACCACTGCTGGTTCTCCTTT 0.363000 29 20 1.99505e-19 2.85281e-19 0.012213 1 0 TEX2 55852 broad.mit.edu 37 17 62291328 62291328 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:62291328C>A ENST00000258991.3 - 2 334 c.250G>T c.(250-252)Gac>Tac p.D84Y TEX2_ENST00000584379.1_Missense_Mutation_p.D84Y|TEX2_ENST00000583097.1_Missense_Mutation_p.D84Y Q8IWB9 TEX2_HUMAN testis expressed 2 84 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) CCGGCGGGGTCATGGCCAACT 0.577000 97 160 1.26289e-39 2.02334e-39 0.014410 1 0 ACE 1636 broad.mit.edu 37 17 61557822 61557822 + Silent SNP C C T rs4302 byFrequency TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:61557822C>T ENST00000290866.4 + 5 804 c.780C>T c.(778-780)cgC>cgT p.R260R ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Silent_p.R260R|ACE_ENST00000428043.1_Silent_p.R260R NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 260 Peptidase M2 1. R -> C (in dbSNP:rs4302).|R -> L (in dbSNP:rs4303). arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) TCGTCCGCCGCGCACTGCATC 0.607000 31 65 0 0 0.008361 0 0 XKR6 286046 broad.mit.edu 37 8 10782284 10782284 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:10782284C>T ENST00000416569.2 - 2 847 c.821G>A c.(820-822)cGa>cAa p.R274Q XKR6_ENST00000304437.2_5'UTR NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 274 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) GTAGAAGCGTCGCTGGTGTTC 0.582000 7 117 0 0 0.006214 0 0 CSMD1 64478 broad.mit.edu 37 8 3226842 3226842 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:3226842C>A ENST00000520002.1 - 20 3391 c.2836G>T c.(2836-2838)Ggg>Tgg p.G946W CSMD1_ENST00000400186.3_Missense_Mutation_p.G946W|CSMD1_ENST00000539096.1_Missense_Mutation_p.G945W|CSMD1_ENST00000602723.1_Missense_Mutation_p.G946W|CSMD1_ENST00000537824.1_Missense_Mutation_p.G945W|CSMD1_ENST00000602557.1_Missense_Mutation_p.G946W|CSMD1_ENST00000542608.1_Missense_Mutation_p.G945W Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 946 CUB 6. 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) TCTGGAAACCCAGGAGAAAGG 0.393000 17 14 6.94344e-10 8.49403e-10 0.006122 1 0 LIN28B 389421 broad.mit.edu 37 6 105406156 105406156 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:105406156C>G ENST00000345080.4 + 2 396 c.193C>G c.(193-195)Cac>Gac p.H65D NM_001004317.3 NP_001004317.1 Q6ZN17 LN28B_HUMAN lin-28 homolog B (C. elegans) 65 CSD. miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing cytoplasm|nucleus DNA binding|protein binding|RNA binding|zinc ion binding large_intestine(1)|lung(10)|ovary(1) 12 all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204) TGTATTTGTACACCAAGTAAG 0.453000 36 56 0 0 0.004878 0 0 MYH3 4621 broad.mit.edu 37 17 10554888 10554888 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:10554888T>A ENST00000583535.1 - 5 533 c.446A>T c.(445-447)cAg>cTg p.Q149L MYH3_ENST00000226209.7_Missense_Mutation_p.Q149L NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 149 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TGGGGCCTCCTGGCGCTTTTT 0.577000 86 180 0 0 0.014410 0 0 MYH4 4622 broad.mit.edu 37 17 10366498 10366498 + Silent SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:10366498T>C ENST00000255381.2 - 10 923 c.813A>G c.(811-813)ctA>ctG p.L271L CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 271 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.L271L(1) 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 GGGACTTCTCTAGCAGATCTG 0.353000 26 43 0 0 0.005443 0 0 FRMD1 79981 broad.mit.edu 37 6 168464370 168464370 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:168464370C>A ENST00000283309.6 - 6 779 c.715G>T c.(715-717)Ggc>Tgc p.G239C FRMD1_ENST00000440994.2_Missense_Mutation_p.G171C|FRMD1_ENST00000537786.1_Missense_Mutation_p.G10C|FRMD1_ENST00000432403.1_5'UTR NM_024919.3 NP_079195.3 Q8N878 FRMD1_HUMAN FERM domain containing 1 239 FERM. cytoskeleton binding endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 19 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GGGCTCAGGCCCTGGCGCTCA 0.642000 15 31 1.02788e-11 1.31576e-11 0.004990 1 0 MYH4 4622 broad.mit.edu 37 17 10364260 10364260 + Nonsense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:10364260C>A ENST00000255381.2 - 12 1230 c.1120G>T c.(1120-1122)Gag>Tag p.E374* CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 374 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TCTGCCTGCTCTTCCCTTTGC 0.493000 50 89 9.22156e-22 1.35504e-21 0.014410 1 0 INTU 27152 broad.mit.edu 37 4 128637585 128637585 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:128637585C>T ENST00000335251.5 + 16 2926 c.2823C>T c.(2821-2823)acC>acT p.T941T NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 941 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 TTGGGTTAACCTTGTAGCTGT 0.358000 22 17 0 0 0.010504 0 0 ZNF300 91975 broad.mit.edu 37 5 150275854 150275854 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:150275854T>C ENST00000446148.2 - 7 1422 c.995A>G c.(994-996)cAg>cGg p.Q332R ZNF300_ENST00000394226.2_Missense_Mutation_p.Q316R|ZNF300_ENST00000274599.5_Missense_Mutation_p.Q316R|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.Q280R NM_001172831.1 NP_001166302.1 Q96RE9 ZN300_HUMAN zinc finger protein 300 316 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATGAGTTCTCTGATGTACAAC 0.398000 69 43 0 0 0.014410 0 0 SKP2 6502 broad.mit.edu 37 5 36184011 36184011 + Silent SNP T T G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:36184011T>G ENST00000274254.5 + 10 1405 c.1131T>G c.(1129-1131)acT>acG p.T377T SKP2_ENST00000274255.6_3'UTR NM_032637.3 NP_116026.1 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2, E3 ubiquitin protein ligase 0 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding breast(1)|central_nervous_system(2)|ovary(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CATACAGAACTTCCAAACTCA 0.363000 7 71 0 0 0.001984 0 0 PKDREJ 10343 broad.mit.edu 37 22 46657867 46657867 + Silent SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr22:46657867G>C ENST00000253255.5 - 1 1352 c.1353C>G c.(1351-1353)ctC>ctG p.L451L NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 451 REJ. 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) TTGGTCCTTGGAGCACGTGGA 0.408000 43 40 0 0 0.009718 0 0 C16orf93 90835 broad.mit.edu 37 16 30770417 30770417 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:30770417C>T ENST00000543610.1 - 8 1694 c.733G>A c.(733-735)Gaa>Aaa p.E245K C16orf93_ENST00000541260.1_Missense_Mutation_p.E310K|PHKG2_ENST00000424889.3_Intron|PHKG2_ENST00000563588.1_3'UTR NM_001014979.2 NP_001014979.2 A1A4V9 CP093_HUMAN chromosome 16 open reading frame 93 245 breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6) 11 TTGCTTTCTTCTTTCTCTGCA 0.597000 163 144 0 0 0.014410 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178770807 178770807 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:178770807G>A ENST00000251582.7 - 2 596 c.495C>T c.(493-495)gcC>gcT p.A165A ADAMTS2_ENST00000274609.5_Silent_p.A165A NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 165 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) AGGAGGCTTCGGCTAGGCCGG 0.652000 6 8 0 0 0.001984 0 0 CHML 1122 broad.mit.edu 37 1 241798273 241798273 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:241798273G>C ENST00000366553.1 - 1 959 c.796C>G c.(796-798)Ctt>Gtt p.L266V OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) 266 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) CGAAATGCAAGAATCCTAGTG 0.358000 19 36 0 0 0.006122 0 0 GALNT15 117248 broad.mit.edu 37 3 16254215 16254215 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:16254215G>T ENST00000339732.5 + 6 1840 c.1337G>T c.(1336-1338)gGg>gTg p.G446V GALNT15_ENST00000437509.1_Missense_Mutation_p.G446V NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 ACCTGGCTGGGGTCATTCAAA 0.557000 41 25 5.44703e-19 7.7149e-19 0.009718 1 0 TTC27 55622 broad.mit.edu 37 2 32859031 32859031 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:32859031C>G ENST00000317907.4 + 3 586 c.355C>G c.(355-357)Cag>Gag p.Q119E NM_001193509.1|NM_017735.4 NP_001180438.1|NP_060205.3 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 119 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 CTTACACCCTCAGGACTTTTT 0.363000 23 64 0 0 0.003330 0 0 PIH1D2 120379 broad.mit.edu 37 11 111938637 111938637 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:111938637G>C ENST00000280350.4 - 6 1128 c.906C>G c.(904-906)atC>atG p.I302M PIH1D2_ENST00000528775.1_Intron|PIH1D2_ENST00000532211.1_Missense_Mutation_p.I302M|PIH1D2_ENST00000431456.1_Intron NM_138789.3 NP_620144.1 Q8WWB5 PIHD2_HUMAN PIH1 domain containing 2 302 endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 11 all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508) ATTTTTCTTTGATAAATTTTG 0.333000 38 33 0 0 0.006230 0 0 L3HYPDH 112849 broad.mit.edu 37 14 59950740 59950740 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:59950740C>A ENST00000247194.4 - 1 408 c.295G>T c.(295-297)Ggc>Tgc p.G99C RP11-701B16.2_ENST00000554253.1_RNA NM_144581.1 NP_653182.1 L-3-hydroxyproline dehydratase (trans-) GAGCTGTAGCCCTCGTTGTGC 0.711000 OREG0022712 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 21 0.00307968 0.00320441 0.003080 1 0 MAT1A 4143 broad.mit.edu 37 10 82039969 82039969 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:82039969G>C ENST00000372213.3 - 5 769 c.509C>G c.(508-510)tCc>tGc p.S170C NM_000429.2 NP_000420.1 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 170 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) GAGGAGGCCGGAGCGCCTGAG 0.577000 48 29 0 0 0.014410 0 0 PDE1C 5137 broad.mit.edu 37 7 31864484 31864484 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:31864484G>C ENST00000396184.3 - 14 1607 c.1403C>G c.(1402-1404)tCg>tGg p.S468W PDE1C_ENST00000396182.2_Missense_Mutation_p.S468W|PDE1C_ENST00000396193.1_Missense_Mutation_p.S528W|PDE1C_ENST00000396191.1_Missense_Mutation_p.S468W|PDE1C_ENST00000321453.7_Missense_Mutation_p.S468W NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 468 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 p.S468*(2) 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) CACTGACCTCGAACGCCTCTG 0.512000 42 94 0 0 0.014410 0 0 TRAJ37 28718 broad.mit.edu 37 14 22972794 22972794 + RNA SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:22972794C>A ENST00000390500.1 + 0 60 CCAAGTAAAACCAGGTAGGTC 0.393000 16 4 2.4624e-09 2.97806e-09 0.008871 1 0 PSMF1 9491 broad.mit.edu 37 20 1144966 1144966 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:1144966C>T ENST00000335877.6 + 6 786 c.610C>T c.(610-612)Cgg>Tgg p.R204W PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Missense_Mutation_p.R116W|PSMF1_ENST00000438768.2_Missense_Mutation_p.R142W|PSMF1_ENST00000333082.3_Missense_Mutation_p.R204W|PSMF1_ENST00000246015.4_Missense_Mutation_p.R204W NM_006814.3 NP_006805.2 Q92530 PSMF1_HUMAN proteasome (prosome, macropain) inhibitor subunit 1 (PI31) 204 Pro-rich. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome core complex endopeptidase inhibitor activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(8) 13 CCTCAGGCCTCGGAGAGGTGG 0.552000 209 236 0 0 0.014410 0 0 C12orf50 160419 broad.mit.edu 37 12 88381702 88381702 + Nonsense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:88381702G>A ENST00000298699.2 - 9 922 c.742C>T c.(742-744)Cga>Tga p.R248* C12orf50_ENST00000550553.1_Intron NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 248 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 GGTACTAGTCGGGTAGTTAGG 0.343000 23 31 0 0 0.006320 0 0 BMP2 650 broad.mit.edu 37 20 6759467 6759467 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:6759467G>A ENST00000378827.4 + 3 2141 c.922G>A c.(922-924)Gtg>Atg p.V308M NM_001200.2 NP_001191.1 P12643 BMP2_HUMAN bone morphogenetic protein 2 308 BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 13 Simvastatin(DB00641) CTTCAGTGACGTGGGGTGGAA 0.507000 26 87 0 0 0.010818 0 0 PARP9 83666 broad.mit.edu 37 3 122277281 122277281 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:122277281C>A ENST00000360356.2 - 3 276 c.49G>T c.(49-51)Ggt>Tgt p.G17C PARP9_ENST00000462315.1_Splice_Site_p.E17_splice|PARP9_ENST00000492382.1_Splice_Site_p.D17_splice|PARP9_ENST00000471785.1_Splice_Site_p.E17_splice|PARP9_ENST00000477522.2_Splice_Site_p.E17_splice NM_001146102.1|NM_031458.2 NP_001139574.1|NP_113646.2 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 17 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) GTAATCCTACCTGATTTTTCA 0.423000 40 42 1.07121e-22 1.5993e-22 0.006999 1 0 DOCK9 23348 broad.mit.edu 37 13 99481561 99481561 + Splice_Site SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr13:99481561C>G ENST00000376460.1 - 43 4976 c.4896_splice c.e43+1 p.E1632_splice DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Splice_Site_p.E1633_splice NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1633 DHR-2. 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) GGGCTACTACCTCTGAGAGAT 0.488000 4 2 0 0 0.000602 0 0 C1orf173 127254 broad.mit.edu 37 1 75072536 75072536 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:75072536C>A ENST00000326665.5 - 10 1456 c.1238G>T c.(1237-1239)aGg>aTg p.R413M C1orf173_ENST00000420661.2_Missense_Mutation_p.R216M|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 413 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CTTTTCTTTCCTAGATTTCGG 0.408000 47 34 2.47907e-22 3.67909e-22 0.014410 1 0 SNHG14 104472715 broad.mit.edu 37 15 25423728 25423728 + RNA SNP A A C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:25423728A>C ENST00000441592.2 + 0 299 TTGCTTTGGGACCGCTGGCCC 0.617000 7 21 0 0 0.001984 0 0 ZNF83 55769 broad.mit.edu 37 19 53122257 53122257 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:53122257A>T ENST00000600714.1 - 4 356 c.74T>A c.(73-75)cTg>cAg p.L25Q ZNF83_ENST00000597161.1_Missense_Mutation_p.L25Q|ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000597597.1_Intron|ZNF83_ENST00000596930.1_Missense_Mutation_p.L25Q|ZNF83_ENST00000536937.1_5'UTR|ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000544146.1_5'UTR|ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000601257.1_Missense_Mutation_p.L25Q P51522 ZNF83_HUMAN zinc finger protein 83 0 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) AGCAGGGTCCAGGCATTTCCA 0.468000 36 135 0 0 0.014410 0 0 RYR2 6262 broad.mit.edu 37 1 237817705 237817705 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:237817705G>T ENST00000366574.2 + 52 8273 c.7956G>T c.(7954-7956)ctG>ctT p.L2652L RYR2_ENST00000542537.1_Silent_p.L2636L|RYR2_ENST00000360064.6_Silent_p.L2650L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2652 4 X approximate repeats.|Modulator (Potential). 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) TTGATGCCCTGTCTCAAAAGG 0.378000 11 24 2.80697e-09 3.38381e-09 0.010729 1 0 IGKV1D-16 28901 broad.mit.edu 37 2 90139107 90139107 + RNA SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:90139107G>T ENST00000492446.1 + 0 30 GACACAGCATGGACATGAGGG 0.537000 63 235 6.8682e-38 1.09568e-37 0.014410 1 0 CCT6P3 643180 broad.mit.edu 37 7 64525420 64525420 + RNA SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:64525420C>T ENST00000426828.1 + 0 250 NR_033416.1 AAGGTAGCAACAGCCCAGGAT 0.393000 22 68 0 0 0.004656 0 0 SCN11A 11280 broad.mit.edu 37 3 38889201 38889201 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:38889201G>T ENST00000450244.1 - 26 4558 c.4360C>A c.(4360-4362)Cac>Aac p.H1454N SCN11A_ENST00000456224.3_Missense_Mutation_p.H1416N|SCN11A_ENST00000302328.3_Missense_Mutation_p.H1454N Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1454 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AAAGGAATGTGCTCCTGATTT 0.502000 19 10 4.30721e-22 6.37946e-22 0.010504 1 0 CCDC126 90693 broad.mit.edu 37 7 23682551 23682551 + Splice_Site SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:23682551G>T ENST00000307471.3 + 4 697 c.238_splice c.e4-1 p.A80_splice CCDC126_ENST00000409765.1_Splice_Site_p.A80_splice|CCDC126_ENST00000410069.1_Splice_Site_p.A80_splice NM_138771.3 NP_620126.2 Q96EE4 CC126_HUMAN coiled-coil domain containing 126 80 extracellular region endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1) 7 TTCCCCTAGCGGATCTGAAAA 0.368000 25 35 3.7963e-18 5.29634e-18 0.003330 1 0 RIPK2 8767 broad.mit.edu 37 8 90777691 90777691 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:90777691G>A ENST00000220751.4 + 3 764 c.450G>A c.(448-450)caG>caA p.Q150Q RIPK2_ENST00000540020.1_Silent_p.Q13Q NM_003821.5 NP_003812.1 O43353 RIPK2_HUMAN receptor-interacting serine-threonine kinase 2 150 Protein kinase. activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 10 BRCA - Breast invasive adenocarcinoma(11;0.0474) TGAAGACTCAGAATATCTTAT 0.313000 7 90 0 0 0.004482 0 0 ASIC2 40 broad.mit.edu 37 17 31340990 31340990 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:31340990G>T ENST00000225823.2 - 10 2557 c.1685C>A c.(1684-1686)gCc>gAc p.A562D ASIC2_ENST00000359872.6_Missense_Mutation_p.A511D NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 511 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) GTGTCAGCAGGCAATCTCCTC 0.572000 4 6 1.23904e-05 1.35948e-05 0.000602 1 0 KRTAP5-9 3846 broad.mit.edu 37 11 71260116 71260116 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:71260116C>T ENST00000528743.2 + 1 651 c.413C>T c.(412-414)tCa>tTa p.S138L NM_005553.3 NP_005544.4 P26371 KRA59_HUMAN keratin associated protein 5-9 138 8 X 4 AA repeats of C-C-X-P. epidermis development keratin filament kidney(1)|large_intestine(1)|lung(6)|prostate(3) 11 TGCTCATCCTCAGGCTGTGGG 0.612000 93 163 0 0 0.014410 0 0 MASP1 5648 broad.mit.edu 37 3 186944202 186944202 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:186944202G>T ENST00000337774.5 - 12 1937 c.1548C>A c.(1546-1548)atC>atA p.I516I NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 516 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CACCCAGGATGATTTTGAAGT 0.567000 6 21 5.9392e-07 6.73471e-07 0.001168 1 0 OR2M2 391194 broad.mit.edu 37 1 248343675 248343675 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:248343675C>A ENST00000359682.2 + 1 388 c.388C>A c.(388-390)Cta>Ata p.L130I NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 130 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TTGCCACCCTCTAAGATATAC 0.403000 133 263 1.14977e-51 1.87846e-51 0.014410 1 0 NSUN2 54888 broad.mit.edu 37 5 6609987 6609987 + Silent SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:6609987T>A ENST00000264670.6 - 12 1586 c.1275A>T c.(1273-1275)gcA>gcT p.A425A NSUN2_ENST00000506139.1_Silent_p.A390A|NSUN2_ENST00000539938.1_Silent_p.A189A NM_017755.5 NP_060225.4 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 425 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 TCACCAATACTGCCACAAAAA 0.328000 35 40 0 0 0.009718 0 0 PCDH17 27253 broad.mit.edu 37 13 58298958 58298958 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr13:58298958G>C ENST00000377918.3 + 4 3036 c.3010G>C c.(3010-3012)Gac>Cac p.D1004H NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1004 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) ATTTGGAAAAGACAAGCGAGA 0.433000 55 23 0 0 0.014410 0 0 CNTN4 152330 broad.mit.edu 37 3 3081938 3081938 + Missense_Mutation SNP T T G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:3081938T>G ENST00000397461.1 + 19 2765 c.2381T>G c.(2380-2382)gTg>gGg p.V794G CNTN4_ENST00000418658.1_Missense_Mutation_p.V794G|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Missense_Mutation_p.V466G|CNTN4_ENST00000427331.1_Missense_Mutation_p.V794G|CNTN4_ENST00000358480.3_Missense_Mutation_p.V575G|CNTN4_ENST00000397459.2_Missense_Mutation_p.V466G NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 794 Fibronectin type-III 2. 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) ACCACGGTGGTGTATTCTGCA 0.428000 25 17 0 0 0.003330 0 0 ATP10B 23120 broad.mit.edu 37 5 160029629 160029629 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:160029629G>A ENST00000327245.5 - 21 4164 c.3318C>T c.(3316-3318)taC>taT p.Y1106Y NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1106 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCAGGCGCGAGTAACACCAGT 0.567000 22 10 0 0 0.010504 0 0 FLRT2 23768 broad.mit.edu 37 14 86088031 86088031 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:86088031C>G ENST00000330753.4 + 2 940 c.173C>G c.(172-174)cCt>cGt p.P58R FLRT2_ENST00000554746.1_Missense_Mutation_p.P58R NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 58 LRRNT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) ACCTCAGTGCCTCTTGGGATC 0.522000 157 48 0 0 0.014410 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188217 140188217 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:140188217C>A ENST00000530339.1 + 1 1445 c.1445C>A c.(1444-1446)gCg>gAg p.A482E PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A482E|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A482E|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGTGGGACGCGGACGCGCAG 0.657000 36 28 1.71298e-08 2.03536e-08 0.003755 1 0 TTN 7273 broad.mit.edu 37 2 179443986 179443986 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:179443986G>C ENST00000589042.1 - 320 67995 c.67771C>G c.(67771-67773)Cta>Gta p.L22591V TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L13526V|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L13651V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L13718V|TTN_ENST00000342992.6_Missense_Mutation_p.L20023V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L20950V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20950 Fibronectin type-III 64. 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) TCAGTTGCTAGAGGATCTTCC 0.438000 55 65 0 0 0.014410 0 0 TMC4 147798 broad.mit.edu 37 19 54666867 54666867 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:54666867G>C ENST00000376591.4 - 9 1452 c.1321C>G c.(1321-1323)Ctg>Gtg p.L441V TMC4_ENST00000416963.1_Missense_Mutation_p.L23V|TMC4_ENST00000301187.4_Missense_Mutation_p.L435V NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 441 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) AGGACCACCAGGGAGGCGAGG 0.577000 15 30 0 0 0.003163 0 0 TRHDE 29953 broad.mit.edu 37 12 72936127 72936127 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:72936127G>A ENST00000261180.4 + 7 1740 c.1644G>A c.(1642-1644)agG>agA p.R548R NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 548 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TTTTCCAGAGGGGTTTGCAAG 0.308000 16 20 0 0 0.004007 0 0 RBFOX1 54715 broad.mit.edu 37 16 7102088 7102088 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:7102088G>A ENST00000547372.1 + 4 451 c.145G>A c.(145-147)Gag>Aag p.E49K RBFOX1_ENST00000422070.4_Missense_Mutation_p.E49K|RBFOX1_ENST00000550418.1_Missense_Mutation_p.E6K|RBFOX1_ENST00000547427.1_3'UTR|RBFOX1_ENST00000547338.1_Missense_Mutation_p.E6K|RBFOX1_ENST00000553186.1_Missense_Mutation_p.E6K|RBFOX1_ENST00000535565.2_Missense_Mutation_p.E42K|RBFOX1_ENST00000552089.1_Missense_Mutation_p.E42K Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 6 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 TTGTGAAAGAGAGCAGCTAAG 0.398000 8 17 0 0 0.006214 0 0 ZNF425 155054 broad.mit.edu 37 7 148800930 148800930 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:148800930C>T ENST00000378061.2 - 4 2165 c.2033G>A c.(2032-2034)aGg>aAg p.R678K NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 678 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CAAGCTGCCCCTGATGCAGTA 0.547000 56 95 0 0 0.014410 0 0 FMN2 56776 broad.mit.edu 37 1 240370334 240370334 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:240370334C>T ENST00000319653.9 + 5 2452 c.2222C>T c.(2221-2223)gCg>gTg p.A741V NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 741 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) ATTTTAGAGGCGAAATCGATA 0.567000 10 27 0 0 0.008291 0 0 TAF1L 138474 broad.mit.edu 37 9 32633172 32633172 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:32633172G>A ENST00000242310.4 - 1 2495 c.2406C>T c.(2404-2406)ggC>ggT p.G802G NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 802 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GACACTGCTGGCCAACCACAA 0.423000 53 112 0 0 0.014410 0 0 MS4A4E 643680 broad.mit.edu 37 11 59997435 59997435 + Nonsense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:59997435A>T ENST00000427611.2 - 2 240 c.21T>A c.(19-21)tgT>tgA p.C7* MS4A4E_ENST00000398986.2_Missense_Mutation_p.C32S|MS4A4E_ENST00000398984.2_Missense_Mutation_p.C32S|MS4A4E_ENST00000526086.1_Missense_Mutation_p.C32S|MS4A4E_ENST00000528394.1_Missense_Mutation_p.C32S|MS4A4E_ENST00000425663.1_Missense_Mutation_p.C32S membrane-spanning 4-domains, subfamily A, member 4E ovary(1) 1 AATCCTTTACACAGATATGAA 0.463000 12 15 0 0 0.010729 0 0 STEAP2 261729 broad.mit.edu 37 7 89856546 89856546 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:89856546A>G ENST00000287908.3 + 3 1147 c.754A>G c.(754-756)Ata>Gta p.I252V STEAP2_ENST00000394632.1_Missense_Mutation_p.I252V|STEAP2_ENST00000402625.2_Missense_Mutation_p.I252V|STEAP2_ENST00000394629.2_Missense_Mutation_p.I252V|STEAP2_ENST00000394622.2_Missense_Mutation_p.I252V|STEAP2_ENST00000394626.1_Missense_Mutation_p.I252V|STEAP2_ENST00000394621.2_Missense_Mutation_p.I252V NM_001244944.1|NM_152999.3 NP_001231873.1|NP_694544.2 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 252 electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) CAAAATTCCTATAGAGATTGT 0.378000 36 62 0 0 0.005524 0 0 NXPE1 120400 broad.mit.edu 37 11 114393726 114393726 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:114393726G>A ENST00000536271.1 - 3 1374 c.131C>T c.(130-132)aCa>aTa p.T44I NXPE1_ENST00000251921.2_Missense_Mutation_p.T186I|NXPE1_ENST00000424269.1_Missense_Mutation_p.T328I neurexophilin and PC-esterase domain family, member 1 GTTGCAAAATGTTGTTATCCA 0.403000 19 12 0 0 0.007413 0 0 NUP62 23636 broad.mit.edu 37 19 50412135 50412135 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:50412135C>A ENST00000596217.1 - 2 2817 c.930G>T c.(928-930)gtG>gtT p.V310V IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Silent_p.V310V|NUP62_ENST00000352066.3_Silent_p.V310V|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000413454.1_Silent_p.V310V|NUP62_ENST00000597029.1_Silent_p.V310V|NUP62_ENST00000597723.1_Intron P37198 NUP62_HUMAN nucleoporin 62kDa 310 Ala-rich. carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2) 19 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GTGGAGCGGTCACGGCAGCTG 0.652000 25 54 4.22769e-11 5.34742e-11 0.006320 1 0 PXDN 7837 broad.mit.edu 37 2 1652098 1652098 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:1652098G>T ENST00000252804.4 - 17 3504 c.3454C>A c.(3454-3456)Ctg>Atg p.L1152M NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1152 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GCCAGGTCCAGAGCCACCGTG 0.647000 24 42 1.37878e-21 2.01806e-21 0.003330 1 0 PIGR 5284 broad.mit.edu 37 1 207106357 207106357 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:207106357C>A ENST00000356495.4 - 7 2043 c.1860G>T c.(1858-1860)ggG>ggT p.G620G NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 620 extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 ATGCTCTGCTCCCATCGGCTT 0.557000 25 63 3.65163e-15 4.9463e-15 0.006320 1 0 FAN1 22909 broad.mit.edu 37 15 31197880 31197880 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:31197880G>A ENST00000362065.4 + 2 1305 c.1014G>A c.(1012-1014)gaG>gaA p.E338E FAN1_ENST00000561594.1_Silent_p.E338E|FAN1_ENST00000565466.1_Silent_p.E338E|FAN1_ENST00000561607.1_Silent_p.E338E NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 338 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 ACATCCAAGAGGCTCCTCTGC 0.458000 Direct reversal of damage 30 68 0 0 0.007291 0 0 PSMB2 5690 broad.mit.edu 37 1 36068886 36068886 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:36068886G>A ENST00000373237.3 - 6 999 c.588C>T c.(586-588)ttC>ttT p.F196F NM_002794.4 NP_002785.1 P49721 PSB2_HUMAN proteasome (prosome, macropain) subunit, beta type, 2 196 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|large_intestine(2) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) Bortezomib(DB00188) CCTGTTTGGGGAAGGAAATGT 0.458000 12 54 0 0 0.001855 0 0 SEL1L 6400 broad.mit.edu 37 14 81953772 81953772 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:81953772C>T ENST00000336735.4 - 16 1710 c.1594G>A c.(1594-1596)Ggc>Agc p.G532S NM_005065.5 NP_005056.3 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like (C. elegans) 532 Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 28 BRCA - Breast invasive adenocarcinoma(234;0.0299) ACGCCGGTGCCACTGGCATGC 0.478000 60 17 0 0 0.014410 0 0 CDH22 64405 broad.mit.edu 37 20 44839176 44839176 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:44839176G>T ENST00000372262.3 - 6 1456 c.1056C>A c.(1054-1056)ccC>ccA p.P352P CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Silent_p.P352P NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 352 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) CGGTGTGCACGGGCTGGGATT 0.677000 16 11 2.94398e-08 3.47036e-08 0.007413 1 0 SNHG14 104472715 broad.mit.edu 37 15 25488662 25488662 + RNA SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:25488662G>T ENST00000453082.2 + 0 2290 NR_003343.1 AGGCGCTGAAGCTCAGGCCCT 0.627000 15 50 3.27435e-08 3.84156e-08 0.002450 1 0 SLC9B1 150159 broad.mit.edu 37 4 103870556 103870556 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:103870556C>A ENST00000296422.7 - 4 381 c.240G>T c.(238-240)atG>atT p.M80I SLC9B1_ENST00000394789.3_Missense_Mutation_p.M80I NM_139173.3 NP_631912.2 Q4ZJI4 NHDC1_HUMAN solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 80 integral to membrane solute:hydrogen antiporter activity TTGACCAGGTCATACACCATA 0.338000 37 35 9.14704e-12 1.1729e-11 0.008740 1 0 CWH43 80157 broad.mit.edu 37 4 49000563 49000563 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:49000563C>T ENST00000226432.4 + 6 983 c.800C>T c.(799-801)aCa>aTa p.T267I CWH43_ENST00000513409.1_Missense_Mutation_p.T240I NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 267 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 TGGTGGGTTACAGGTATGTGG 0.453000 48 20 0 0 0.014410 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713407 142713407 + RNA SNP C C T rs142431664 by1000genomes TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:142713407C>T ENST00000369381.2 - 0 1198 CAGTAAGAAACTCATTCTTAT 0.318000 4 8 0 0 0.000602 0 0 POTEC 388468 broad.mit.edu 37 18 14542920 14542920 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr18:14542920C>T ENST00000358970.5 - 1 225 c.226G>A c.(226-228)Ggc>Agc p.G76S POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 76 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TTGCTCGTGCCGCTCCCCCTG 0.572000 14 402 0 0 0.006122 0 0 GIMAP8 155038 broad.mit.edu 37 7 150164299 150164299 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:150164299G>A ENST00000307271.3 + 2 1087 c.513G>A c.(511-513)aaG>aaA p.K171K NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 171 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) TCAACAACAAGACCAATAGTA 0.443000 8 142 0 0 0.004482 0 0 OR2AT4 341152 broad.mit.edu 37 11 74800700 74800700 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:74800700C>T ENST00000305159.3 - 1 99 c.59G>A c.(58-60)gGc>gAc p.G20D NM_001005285.1 NP_001005285.1 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, member 4 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 12 AGAGGGGATGCCCAATAGATA 0.507000 28 39 0 0 0.007291 0 0 KANTR 102723508 broad.mit.edu 37 X 53172355 53172355 + RNA SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:53172355G>A ENST00000604849.1 + 0 918 GTTGCCGATGGTGATGACCTG 0.572000 16 35 0 0 0.003163 0 0 EEF2K 29904 broad.mit.edu 37 16 22271832 22271832 + Missense_Mutation SNP T T G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:22271832T>G ENST00000263026.5 + 11 1755 c.1281T>G c.(1279-1281)gaT>gaG p.D427E NM_013302.3 NP_037434.1 O00418 EF2K_HUMAN eukaryotic elongation factor-2 kinase 427 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) GAGACCATGATCATCTAGACA 0.542000 60 91 0 0 0.014410 0 0 MROH5 389690 broad.mit.edu 37 8 142486153 142486153 + RNA SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:142486153C>G ENST00000430863.1 - 0 1620 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 GTGTGCTTCTCCAGGGCATCC 0.642000 6 19 0 0 0.001168 0 0 SPRED2 200734 broad.mit.edu 37 2 65540979 65540979 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:65540979C>G ENST00000356388.4 - 6 1102 c.913G>C c.(913-915)Gag>Cag p.E305Q SPRED2_ENST00000443619.2_Missense_Mutation_p.E302Q NM_181784.2 NP_861449.2 Q7Z698 SPRE2_HUMAN sprouty-related, EVH1 domain containing 2 305 inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 CGCGAGCGCTCTCCGTCCTCC 0.682000 20 94 0 0 0.012319 0 0 ZNF709 163051 broad.mit.edu 37 19 12577309 12577309 + Missense_Mutation SNP A A C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:12577309A>C ENST00000397732.3 - 3 326 c.155T>G c.(154-156)aTt>aGt p.I52S ZNF709_ENST00000428311.1_Missense_Mutation_p.I52S|CTD-3105H18.18_ENST00000598753.1_Missense_Mutation_p.I52S NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 52 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 GTGATCTTCAATGTTCTTCTC 0.338000 7 113 0 0 0.003080 0 0 L3HYPDH 112849 broad.mit.edu 37 14 59950741 59950741 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:59950741C>A ENST00000247194.4 - 1 407 c.294G>T c.(292-294)gaG>gaT p.E98D RP11-701B16.2_ENST00000554253.1_RNA NM_144581.1 NP_653182.1 L-3-hydroxyproline dehydratase (trans-) AGCTGTAGCCCTCGTTGTGCA 0.706000 OREG0022712 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 21 0.00307968 0.00320441 0.003080 1 0 SYT11 23208 broad.mit.edu 37 1 155837912 155837912 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:155837912T>C ENST00000368324.4 + 2 444 c.191T>C c.(190-192)aTa>aCa p.I64T SYT11_ENST00000539162.1_Intron NM_152280.4 NP_689493.3 Q9BT88 SYT11_HUMAN synaptotagmin XI 64 cell junction|synaptic vesicle membrane protein binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) GGCATCAGCATATACCCAGAG 0.502000 33 70 0 0 0.003755 0 0 BMX 660 broad.mit.edu 37 X 15543445 15543445 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:15543445C>G ENST00000357607.2 + 8 975 c.787C>G c.(787-789)Caa>Gaa p.Q263E BMX_ENST00000342014.6_Missense_Mutation_p.Q263E|BMX_ENST00000348343.6_Missense_Mutation_p.Q263E P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 263 cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) AAGCAGTAACCAAAAAGAAAG 0.313000 15 68 0 0 0.004007 0 0 FAM135B 51059 broad.mit.edu 37 8 139149455 139149455 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:139149455C>G ENST00000395297.1 - 19 4120 c.3950G>C c.(3949-3951)cGt>cCt p.R1317P NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1317 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGGCACATAACGGTCTTGGGG 0.413000 HNSCC(54;0.14) 24 117 0 0 0.008361 0 0 CIB2 10518 broad.mit.edu 37 15 78398049 78398049 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:78398049C>T ENST00000560618.1 - 4 586 c.445G>A c.(445-447)Ggg>Agg p.G149R CIB2_ENST00000258930.3_Intron|CIB2_ENST00000557846.1_Intron|CIB2_ENST00000539011.1_Intron O75838 CIB2_HUMAN calcium and integrin binding family member 2 0 EF-hand 3. calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 11 CTGCTCTGCCCTGCCCAAGCC 0.632000 17 34 0 0 0.006122 0 0 TPPP 11076 broad.mit.edu 37 5 677917 677917 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:677917C>A ENST00000360578.5 - 2 380 c.259G>T c.(259-261)Gac>Tac p.D87Y NM_007030.2 NP_008961.1 O94811 TPPP_HUMAN tubulin polymerization promoting protein 87 Mediates interaction with LIMK1. microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization nucleus|perinuclear region of cytoplasm|soluble fraction calcium ion binding|microtubule binding kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 Ovarian(839;0.0563) Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GBM - Glioblastoma multiforme(108;0.0191) TTCCTGCCGTCGATCACCTGG 0.642000 33 56 8.4185e-14 1.11996e-13 0.012213 1 0 KIF13B 23303 broad.mit.edu 37 8 29037627 29037627 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:29037627C>T ENST00000524189.1 - 8 752 c.714G>A c.(712-714)aaG>aaA p.K238K KIF13B_ENST00000521515.1_Silent_p.K238K NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 238 Kinesin-motor. microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) CTACCCCAGACTTCACATCGT 0.408000 52 135 0 0 0.014410 0 0 DACT1 51339 broad.mit.edu 37 14 59112862 59112862 + Silent SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:59112862A>G ENST00000395153.3 + 4 1557 c.1410A>G c.(1408-1410)aaA>aaG p.K470K DACT1_ENST00000556859.1_Silent_p.K226K|DACT1_ENST00000335867.4_Silent_p.K507K|DACT1_ENST00000395151.3_Silent_p.K226K|DACT1_ENST00000541264.2_Silent_p.K226K NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 507 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 AGCCCCTGAAAAAGATGTCAC 0.592000 159 29 0 0 0.014410 0 0 SPTA1 6708 broad.mit.edu 37 1 158627344 158627344 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:158627344C>G ENST00000368148.3 - 19 2908 c.2728G>C c.(2728-2730)Gaa>Caa p.E910Q SPTA1_ENST00000368147.3_Missense_Mutation_p.E910Q NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 910 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GTTTCTGCTTCATGCAGGTCA 0.473000 71 111 0 0 0.014410 0 0 GAPDH 2597 broad.mit.edu 37 12 6646845 6646845 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:6646845C>A ENST00000229239.5 + 8 1287 c.621C>A c.(619-621)atC>atA p.I207I GAPDH_ENST00000396859.1_Silent_p.I207I|GAPDH_ENST00000396861.1_Silent_p.I207I|GAPDH_ENST00000396856.1_Silent_p.I132I|GAPDH_ENST00000396858.1_Silent_p.I165I NM_002046.4 NP_002037.2 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 207 gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4) 7 NADH(DB00157) AGAACATCATCCCTGCCTCTA 0.622000 OREG0021628 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 16 0.000308642 0.000328015 0.003163 1 0 LAIR2 3904 broad.mit.edu 37 19 55019221 55019221 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:55019221G>T ENST00000301202.2 + 3 308 c.186G>T c.(184-186)agG>agT p.R62S LAIR2_ENST00000351841.2_Missense_Mutation_p.R62S NM_002288.4 NP_002279.2 Q6ISS4 LAIR2_HUMAN leukocyte-associated immunoglobulin-like receptor 2 62 Ig-like C2-type. extracellular region receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1) 18 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) GCCTGGAGAGGGAGGATAGAG 0.527000 50 76 1.23713e-20 1.79311e-20 0.014410 1 0 RHEBL1 121268 broad.mit.edu 37 12 49460759 49460759 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:49460759C>T ENST00000301068.6 - 3 423 c.184G>A c.(184-186)Gca>Aca p.A62T NM_144593.1 NP_653194.1 Q8TAI7 REBL1_HUMAN Ras homolog enriched in brain like 1 62 positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding breast(2)|large_intestine(2)|lung(5) 9 ACCTGCCCTGCTGTGTCCACC 0.453000 5 66 0 0 0.001168 0 0 BSN 8927 broad.mit.edu 37 3 49690362 49690362 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:49690362G>C ENST00000296452.4 + 5 3487 c.3373G>C c.(3373-3375)Gag>Cag p.E1125Q NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1125 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CTCCTGCTCTGAGTACTCACC 0.612000 36 27 0 0 0.004289 0 0 TENM2 57451 broad.mit.edu 37 5 167655022 167655022 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:167655022A>G ENST00000519204.1 + 24 5162 c.5044A>G c.(5044-5046)Att>Gtt p.I1682V TENM2_ENST00000518659.1_Missense_Mutation_p.I1803V|TENM2_ENST00000520394.1_Missense_Mutation_p.I1564V|TENM2_ENST00000403607.2_Missense_Mutation_p.I1627V|TENM2_ENST00000545108.1_Missense_Mutation_p.I1802V teneurin transmembrane protein 2 CACCCCCACCATTGGACGCTG 0.512000 14 5 0 0 0.002450 0 0 DEGS2 123099 broad.mit.edu 37 14 100615483 100615483 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:100615483G>C ENST00000305631.5 - 2 1222 c.647C>G c.(646-648)tCc>tGc p.S216C DEGS2_ENST00000557117.1_5'UTR|DEGS2_ENST00000553834.1_Intron NM_206918.2 NP_996801.2 Q6QHC5 DEGS2_HUMAN delta(4)-desaturase, sphingolipid 2 216 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane sphingosine hydroxylase activity breast(1)|lung(6)|skin(1) 8 Melanoma(154;0.212) GCCCAGGAAGGAGCTGGCCAG 0.647000 83 17 0 0 0.014410 0 0 FAM65C 140876 broad.mit.edu 37 20 49221286 49221286 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:49221286C>G ENST00000327979.2 - 12 1381 c.970G>C c.(970-972)Gtg>Ctg p.V324L FAM65C_ENST00000535356.1_Missense_Mutation_p.V328L|FAM65C_ENST00000045083.2_Missense_Mutation_p.V324L Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 324 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTGGGTGACACCAGGAAGCTC 0.602000 10 13 0 0 0.006214 0 0 TCTN2 79867 broad.mit.edu 37 12 124191294 124191294 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:124191294G>T ENST00000303372.5 + 16 1919 c.1791G>T c.(1789-1791)caG>caT p.Q597H TCTN2_ENST00000426174.2_Missense_Mutation_p.Q596H NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 597 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) TGAACTGGCAGTACCAGTGTG 0.502000 39 61 2.26627e-22 3.37001e-22 0.007835 1 0 KCNJ12 3768 broad.mit.edu 37 17 21318731 21318731 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:21318731C>T ENST00000583088.1 + 3 972 c.77C>T c.(76-78)tCg>tTg p.S26L KCNJ12_ENST00000331718.5_Missense_Mutation_p.S26L NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) GTCACCATGTCGGGCGCCAAC 0.662000 Prostate(3;0.18) 4 45 0 0 0.009096 0 0 OTOGL 283310 broad.mit.edu 37 12 80655759 80655759 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:80655759G>A ENST00000458043.2 + 18 1879 c.1873G>A c.(1873-1875)Ggc>Agc p.G625S OTOGL_ENST00000547103.1_Missense_Mutation_p.G625S NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTCTCCATCAGGCATGATAGA 0.393000 9 43 0 0 0.010729 0 0 DDR2 4921 broad.mit.edu 37 1 162731083 162731083 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:162731083G>T ENST00000367922.2 + 10 1376 c.938G>T c.(937-939)tGg>tTg p.W313L DDR2_ENST00000367921.3_Missense_Mutation_p.W313L NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 313 cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) GCCAGTGAGTGGGAACCTAAT 0.527000 28 30 2.12542e-12 2.76341e-12 0.006320 1 0 C1R 715 broad.mit.edu 37 12 7188341 7188341 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:7188341C>A ENST00000542285.1 - 11 1606 c.1457G>T c.(1456-1458)cGc>cTc p.R486L P00736 C1R_HUMAN complement component 1, r subcomponent 538 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GCTGACCCTGCGGATGGGGTG 0.552000 30 98 2.46105e-21 3.59507e-21 0.010818 1 0 GPR112 139378 broad.mit.edu 37 X 135431250 135431250 + Silent SNP T T G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:135431250T>G ENST00000394143.1 + 6 5676 c.5385T>G c.(5383-5385)acT>acG p.T1795T GPR112_ENST00000412101.1_Silent_p.T1590T|GPR112_ENST00000287534.4_Silent_p.T1732T|GPR112_ENST00000394141.1_Silent_p.T1590T|GPR112_ENST00000370652.1_Silent_p.T1795T NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1795 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTTCTAATACTAGAAAGATGA 0.398000 31 111 0 0 0.003271 0 0 GPR6 2830 broad.mit.edu 37 6 110301114 110301114 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:110301114G>T ENST00000414000.2 + 3 1083 c.844G>T c.(844-846)Gcg>Tcg p.A282S GPR6_ENST00000275169.3_Missense_Mutation_p.A267S P46095 GPR6_HUMAN G protein-coupled receptor 6 267 integral to plasma membrane breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) GCACTGCCTGGCGCCACCCCA 0.637000 7 37 5.4927e-09 6.55779e-09 0.004482 1 0 OR52D1 390066 broad.mit.edu 37 11 5510563 5510563 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:5510563C>A ENST00000322641.5 + 1 649 c.627C>A c.(625-627)gcC>gcA p.A209A HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCTGCTGGCCATGGGACTGG 0.483000 93 167 1.10192e-24 1.66856e-24 0.014410 1 0 IREB2 3658 broad.mit.edu 37 15 78765606 78765606 + Silent SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:78765606A>G ENST00000258886.8 + 8 1055 c.906A>G c.(904-906)gaA>gaG p.E302E IREB2_ENST00000560440.1_Silent_p.E302E NM_004136.2 NP_004127.1 P48200 IREB2_HUMAN iron-responsive element binding protein 2 302 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) TTGAAACAGAAGCAGTTATGC 0.388000 50 117 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179439363 179439363 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:179439363G>T ENST00000589042.1 - 326 71720 c.71496C>A c.(71494-71496)acC>acA p.T23832T TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.T14767T|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.T14892T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.T14959T|TTN_ENST00000342992.6_Silent_p.T21264T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Silent_p.T22191T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22191 Fibronectin type-III 73. 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) TTACCTGAGGGGTACCAGGAG 0.448000 18 87 3.51602e-12 4.55553e-12 0.008871 1 0 TRPC5 7224 broad.mit.edu 37 X 111090412 111090412 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:111090412T>A ENST00000262839.2 - 6 2548 c.1630A>T c.(1630-1632)Acc>Tcc p.T544S NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 544 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 ATAGCTCTGGTTTCATAATAG 0.433000 54 36 0 0 0.014410 0 0 IREB2 3658 broad.mit.edu 37 15 78758820 78758820 + Silent SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:78758820A>G ENST00000258886.8 + 5 767 c.618A>G c.(616-618)caA>caG p.Q206Q IREB2_ENST00000560440.1_Silent_p.Q206Q|IREB2_ENST00000559427.1_3'UTR NM_004136.2 NP_004127.1 P48200 IREB2_HUMAN iron-responsive element binding protein 2 206 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) TTCATTTGCAACCAGTGCCTG 0.383000 23 51 0 0 0.003954 0 0 OR10A4 283297 broad.mit.edu 37 11 6898647 6898647 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:6898647A>T ENST00000379829.2 + 1 792 c.769A>T c.(769-771)Atc>Ttc p.I257F NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TAGCACTGCCATCCTCACGTA 0.527000 52 72 0 0 0.014410 0 0 TAF3 83860 broad.mit.edu 37 10 8006089 8006089 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:8006089G>A ENST00000344293.5 + 3 822 c.616G>A c.(616-618)Gat>Aat p.D206N NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 206 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 GGACACGCTAGATGTTGTGTT 0.478000 36 28 0 0 0.004878 0 0 CDH6 1004 broad.mit.edu 37 5 31323142 31323142 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:31323142C>A ENST00000265071.2 + 12 2365 c.2100C>A c.(2098-2100)ccC>ccA p.P700P NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 700 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TTTTCCTACCCCGACGGACTC 0.517000 15 50 0.000308642 0.000328015 0.003163 1 0 TNRC6A 27327 broad.mit.edu 37 16 24800997 24800997 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:24800997G>C ENST00000395799.3 + 6 1163 c.1034G>C c.(1033-1035)tGg>tCg p.W345S TNRC6A_ENST00000315183.7_Missense_Mutation_p.W345S NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 345 Ser-rich.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) ATGAATGCTTGGGGCACTGTA 0.438000 45 101 0 0 0.014410 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188563 140188563 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:140188563G>A ENST00000530339.1 + 1 1791 c.1791G>A c.(1789-1791)gtG>gtA p.V597V PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Silent_p.V597V|PCDHA4_ENST00000356878.4_Silent_p.V597V|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGCGCGGTGGATGCTGACT 0.692000 41 21 0 0 0.011902 0 0 NOS2 4843 broad.mit.edu 37 17 26084314 26084314 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:26084314C>A ENST00000313735.6 - 27 3653 c.3420G>T c.(3418-3420)agG>agT p.R1140S NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 1140 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) GCACCGCCACCCTGTCCTTCT 0.537000 OREG0024267 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 57 4.527e-37 7.20644e-37 0.005524 1 0 SLFN13 146857 broad.mit.edu 37 17 33768373 33768373 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:33768373G>A ENST00000285013.6 - 6 2210 c.1935C>T c.(1933-1935)atC>atT p.I645I SLFN13_ENST00000526861.1_Silent_p.I645I|SLFN13_ENST00000534689.1_Silent_p.I327I|SLFN13_ENST00000533791.1_Silent_p.I645I|SLFN13_ENST00000542635.1_Silent_p.I645I|SLFN13_ENST00000360502.2_Silent_p.I327I NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 645 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CTGCTCGGCAGATATTTCTAT 0.388000 26 53 0 0 0.004656 0 0 ALDH8A1 64577 broad.mit.edu 37 6 135239568 135239568 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:135239568G>T ENST00000265605.2 - 7 1517 c.1449C>A c.(1447-1449)atC>atA p.I483I ALDH8A1_ENST00000367847.2_Silent_p.I433I|ALDH8A1_ENST00000367845.2_Silent_p.I429I NM_022568.3 NP_072090.1 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8 family, member A1 483 retinal metabolic process cytoplasm retinal dehydrogenase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) GTTTAACGGTGATGGTTTTGA 0.478000 13 30 1.49906e-05 1.64235e-05 0.002450 1 0 REG1A 5967 broad.mit.edu 37 2 79349979 79349979 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:79349979C>T ENST00000233735.1 + 5 437 c.334C>T c.(334-336)Cac>Tac p.H112Y NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 112 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 CCGCCGCTGGCACTGGAGCAG 0.557000 34 120 0 0 0.007835 0 0 IFRD1 3475 broad.mit.edu 37 7 112097034 112097034 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:112097034A>G ENST00000403825.3 + 4 611 c.350A>G c.(349-351)gAa>gGa p.E117G IFRD1_ENST00000005558.4_Missense_Mutation_p.E117G|IFRD1_ENST00000429071.1_Missense_Mutation_p.E117G|IFRD1_ENST00000535603.1_Missense_Mutation_p.E67G NM_001550.3 NP_001541.2 O00458 IFRD1_HUMAN interferon-related developmental regulator 1 117 multicellular organismal development|myoblast cell fate determination binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1) 15 ATGCTGTATGAATTTATTCTG 0.368000 26 40 0 0 0.005443 0 0 TBX10 347853 broad.mit.edu 37 11 67399229 67399229 + Silent SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:67399229C>G ENST00000335385.3 - 8 1092 c.1005G>C c.(1003-1005)ccG>ccC p.P335P NM_005995.4 NP_005986.2 O75333 TBX10_HUMAN T-box 10 335 anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|lung(4)|ovary(1) 7 CTAGGTGGCTCGGGGCTCCAG 0.652000 7 12 0 0 0.001984 0 0 ATP13A3 79572 broad.mit.edu 37 3 194149602 194149602 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:194149602C>T ENST00000439040.1 - 28 3710 c.2919G>A c.(2917-2919)ctG>ctA p.L973L ATP13A3_ENST00000256031.4_Silent_p.L973L Q9H7F0 AT133_HUMAN ATPase type 13A3 973 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) AAATGATTGCCAGATCAATGA 0.274000 12 94 0 0 0.003163 0 0 COL6A2 1292 broad.mit.edu 37 21 47545908 47545908 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr21:47545908G>T ENST00000300527.4 + 26 2283 c.2179G>T c.(2179-2181)Gcg>Tcg p.A727S COL6A2_ENST00000409416.1_Missense_Mutation_p.A727S|COL6A2_ENST00000397763.1_Missense_Mutation_p.A727S|COL6A2_ENST00000310645.5_Missense_Mutation_p.A727S|COL6A2_ENST00000357838.4_Missense_Mutation_p.A727S NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 727 Nonhelical region.|VWFA 2. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ACGTGTGTTTGCGGTGGTCAT 0.657000 12 31 3.03607e-14 4.06812e-14 0.013537 1 0 GRIN2A 2903 broad.mit.edu 37 16 9923430 9923430 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:9923430G>T ENST00000396573.2 - 10 2166 c.1857C>A c.(1855-1857)gtC>gtA p.V619V GRIN2A_ENST00000535259.1_Silent_p.V462V|GRIN2A_ENST00000330684.3_Silent_p.V619V|GRIN2A_ENST00000404927.2_Silent_p.V619V|GRIN2A_ENST00000562109.1_Silent_p.V619V|GRIN2A_ENST00000396575.2_Silent_p.V619V NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 619 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding 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) TAGGATTCTGGACAGGCACGG 0.488000 34 64 4.3181e-19 6.13928e-19 0.013726 1 0 RPL8 6132 broad.mit.edu 37 8 146017246 146017246 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:146017246C>A ENST00000262584.3 - 3 424 c.192G>T c.(190-192)cgG>cgT p.R64R RPL8_ENST00000527914.1_Intron|RPL8_ENST00000528957.1_Silent_p.R64R|RPL8_ENST00000394920.2_Silent_p.R64R|RPL8_ENST00000529163.1_Intron NM_000973.3 NP_000964.1 P62917 RL8_HUMAN ribosomal protein L8 64 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit rRNA binding|structural constituent of ribosome kidney(12)|lung(7)|prostate(1) 20 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.191) GATACGGATCCCGGAAGACCA 0.657000 33 171 3.28013e-08 3.84229e-08 0.004878 1 0 CDKN2A 1029 broad.mit.edu 37 9 21971035 21971035 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:21971035T>A ENST00000304494.5 - 2 593 c.323A>T c.(322-324)gAt>gTt p.D108V RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57V|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57V|CDKN2A_ENST00000530628.2_Silent_p.R122R|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108V|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57V|CDKN2A_ENST00000361570.3_Silent_p.R163R|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108V|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57V|CDKN2A_ENST00000579755.1_Silent_p.R122R NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 108 D -> H (in a bladder tumor).|D -> Y (in a head and neck tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.D108G(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R163R(1)|p.R107fs*33(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) GCCCCAGGCATCGCGCACGTC 0.741000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 23 4 0 0 0.012319 0 0 OR10A4 283297 broad.mit.edu 37 11 6898646 6898646 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:6898646C>A ENST00000379829.2 + 1 791 c.768C>A c.(766-768)gcC>gcA p.A256A NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ATAGCACTGCCATCCTCACGT 0.527000 53 71 4.88482e-21 7.12171e-21 0.014410 1 0 PLSCR4 57088 broad.mit.edu 37 3 145917674 145917674 + Nonsense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:145917674G>A ENST00000354952.2 - 6 790 c.550C>T c.(550-552)Cga>Tga p.R184* PLSCR4_ENST00000446574.2_Nonsense_Mutation_p.R184*|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000493382.1_Nonsense_Mutation_p.R184*|PLSCR4_ENST00000383083.2_Intron NM_020353.2 NP_065086.2 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 184 blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1) 17 ATGATTTCTCGGCCCATACAA 0.502000 15 15 0 0 0.003163 0 0 TLR4 7099 broad.mit.edu 37 9 120476132 120476132 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:120476132C>A ENST00000355622.6 + 3 1827 c.1726C>A c.(1726-1728)Ctt>Att p.L576I TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.L536I NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 576 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 TTTCTTAAATCTTACTCAGAA 0.413000 17 34 0.000422831 0.000448731 0.004007 1 0 PCDH11X 27328 broad.mit.edu 37 X 91133291 91133291 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:91133291G>T ENST00000373094.1 + 2 2897 c.2052G>T c.(2050-2052)ttG>ttT p.L684F PCDH11X_ENST00000504220.1_Missense_Mutation_p.L684F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.L684F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.L684F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.L684F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.L684F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.L684F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.L684F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.L684F NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 684 Cadherin 7. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CTTATGAATTGGTTCTACCGT 0.423000 73 53 8.87156e-34 1.39437e-33 0.014410 1 0 BRINP2 57795 broad.mit.edu 37 1 177226407 177226407 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:177226407A>T ENST00000361539.4 + 4 868 c.556A>T c.(556-558)Agc>Tgc p.S186C FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 186 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CAGTGGGAACAGCACAGCTGT 0.557000 16 33 0 0 0.004990 0 0 CD1E 913 broad.mit.edu 37 1 158325824 158325824 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:158325824G>C ENST00000444681.2 + 3 829 c.536G>C c.(535-537)gGg>gCg p.G179A CD1E_ENST00000434258.1_Missense_Mutation_p.G276A|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000452291.2_Missense_Mutation_p.G89A|CD1E_ENST00000368166.3_Missense_Mutation_p.G89A|CD1E_ENST00000368156.1_Missense_Mutation_p.G188A|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.G278A|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.G278A|CD1E_ENST00000368165.3_Missense_Mutation_p.G188A|CD1E_ENST00000368163.3_Intron NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 278 antigen processing and presentation|immune response early endosome|Golgi membrane|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) GTGGCGGCTGGGGAGGCAGCT 0.607000 39 64 0 0 0.008740 0 0 CSMD2 114784 broad.mit.edu 37 1 34123627 34123627 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:34123627C>T ENST00000373381.4 - 27 4542 c.4366G>A c.(4366-4368)Gcg>Acg p.A1456T CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.A329T NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1416 CUB 9. 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) CCCTGCAGCGCGTAGCCAGGG 0.592000 44 22 0 0 0.009718 0 0 KIAA1257 57501 broad.mit.edu 37 3 128695838 128695838 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:128695838C>T ENST00000265068.5 - 6 1047 c.880G>A c.(880-882)Gat>Aat p.D294N KIAA1257_ENST00000511438.1_Missense_Mutation_p.D294N|KIAA1257_ENST00000515659.1_Missense_Mutation_p.D182N NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 294 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 GTGGAAGAATCGTCCATTTTG 0.443000 18 21 0 0 0.008871 0 0 ZBTB4 57659 broad.mit.edu 37 17 7366417 7366417 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:7366417C>A ENST00000311403.4 - 4 2223 c.1884G>T c.(1882-1884)ctG>ctT p.L628L ZBTB4_ENST00000380599.4_Silent_p.L628L NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 628 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) cctcTCCGCTCAGCTCCCCAG 0.607000 6 7 0.00307968 0.00320441 0.003080 1 0 SHANK2 22941 broad.mit.edu 37 11 70332941 70332941 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:70332941G>T ENST00000338508.4 - 32 3459 c.3460C>A c.(3460-3462)Ccc>Acc p.P1154T SHANK2_ENST00000449833.2_Missense_Mutation_p.P558T|SHANK2_ENST00000423696.2_Missense_Mutation_p.P774T|SHANK2_ENST00000409161.1_Missense_Mutation_p.P557T Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 774 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TGGTTTTCGGGCTCCCTGGGC 0.677000 34 49 2.20262e-25 3.34888e-25 0.013726 1 0 R3HDM1 23518 broad.mit.edu 37 2 136467633 136467633 + Silent SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:136467633A>G ENST00000264160.4 + 22 2833 c.2463A>G c.(2461-2463)ggA>ggG p.G821G R3HDM1_ENST00000329971.3_Silent_p.G692G|R3HDM1_ENST00000409606.1_Silent_p.G822G|R3HDM1_ENST00000409478.1_Silent_p.G693G|R3HDM1_ENST00000410054.1_Silent_p.G766G NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 821 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) TTTCAGCTGGACCACCACCGC 0.443000 OREG0014997 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 73 0 0 0.007835 0 0 PCDHA12 56137 broad.mit.edu 37 5 140257259 140257259 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:140257259G>T ENST00000398631.2 + 1 2202 c.2202G>T c.(2200-2202)ccG>ccT p.P734P PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGCGCGCCGGGCAAGCCCA 0.682000 13 2 4.36969e-10 5.37198e-10 0.001855 1 0 SH3BGRL3 83442 broad.mit.edu 37 1 26607338 26607338 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:26607338A>G ENST00000270792.5 + 2 1111 c.131A>G c.(130-132)aAc>aGc p.N44S SH3BGRL3_ENST00000319041.6_Missense_Mutation_p.N44S NM_031286.3 NP_112576.1 Q9H299 SH3L3_HUMAN SH3 domain binding glutamic acid-rich protein like 3 44 Glutaredoxin. cell redox homeostasis cytoplasm|nucleus electron carrier activity|protein disulfide oxidoreductase activity all_cancers(24;1.16e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.22e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00751)|READ - Rectum adenocarcinoma(331;0.0649) TCCCAGGACAACGCCCTGAGG 0.617000 18 10 0 0 0.007413 0 0 RASGRP1 10125 broad.mit.edu 37 15 38852064 38852064 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:38852064C>T ENST00000310803.5 - 2 355 c.178G>A c.(178-180)Gcc>Acc p.A60T RASGRP1_ENST00000561180.1_Missense_Mutation_p.A111T|RASGRP1_ENST00000539159.1_Missense_Mutation_p.A12T|RASGRP1_ENST00000450598.2_Missense_Mutation_p.A60T|RASGRP1_ENST00000558164.1_Missense_Mutation_p.A60T|RASGRP1_ENST00000559830.1_Missense_Mutation_p.A60T NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 60 N-terminal Ras-GEF.|Ras exchanger motif region; required for transforming activity (By similarity). cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi 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 11 34 0 0 0.001855 0 0 PTPRM 5797 broad.mit.edu 37 18 8113617 8113617 + Nonsense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr18:8113617G>T ENST00000332175.8 + 12 3027 c.1990G>T c.(1990-1992)Gaa>Taa p.E664* PTPRM_ENST00000444013.1_Nonsense_Mutation_p.E451*|PTPRM_ENST00000580170.1_Nonsense_Mutation_p.E664*|PTPRM_ENST00000400053.4_Nonsense_Mutation_p.E602*|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400060.4_Nonsense_Mutation_p.E664* NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 664 Fibronectin type-III 4. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) CTTTGCTGCAGAATTTCCTGC 0.428000 125 37 2.60151e-83 4.30694e-83 0.014410 1 0 PCDHGA2 56113 broad.mit.edu 37 5 140720611 140720611 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:140720611G>T ENST00000394576.2 + 1 2073 c.2073G>T c.(2071-2073)ctG>ctT p.L691L PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTCACTCTGTACCTGGTGG 0.677000 84 53 1.52804e-57 2.50746e-57 0.014410 1 0 CACNG7 59284 broad.mit.edu 37 19 54418659 54418659 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:54418659C>A ENST00000391767.1 + 4 536 c.324C>A c.(322-324)ctC>ctA p.L108L CACNG7_ENST00000222212.2_Silent_p.L108L|CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Silent_p.L108L P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 108 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) TGGTCAGCCTCTTCCTCGTGT 0.607000 22 32 1.85244e-09 2.24767e-09 0.003330 1 0 C1QTNF4 114900 broad.mit.edu 37 11 47611622 47611622 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:47611622C>T ENST00000302514.3 - 2 1257 c.741G>A c.(739-741)ctG>ctA p.L247L NM_031909.2 NP_114115.2 Q9BXJ3 C1QT4_HUMAN C1q and tumor necrosis factor related protein 4 247 C1q 2. extracellular region breast(2)|endometrium(1)|kidney(1)|lung(2) 6 GGTTCTTCATCAGCTTAACCG 0.677000 11 20 0 0 0.010729 0 0 IGKV2-30 28919 broad.mit.edu 37 2 89544345 89544345 + RNA SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:89544345G>T ENST00000468494.1 - 0 308 TGAAATCAGTGCCTGACCCAC 0.537000 60 133 1.12115e-39 1.80013e-39 0.014410 1 0 MTRR 4552 broad.mit.edu 37 5 7897181 7897181 + Silent SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:7897181A>G ENST00000264668.2 + 14 1884 c.1854A>G c.(1852-1854)aaA>aaG p.K618K MTRR_ENST00000440940.2_Silent_p.K591K NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 618 methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) ATTTCAGAAAAGAGCTCAGAC 0.388000 15 20 0 0 0.004007 0 0 TOP2A 7153 broad.mit.edu 37 17 38564238 38564238 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:38564238C>A ENST00000423485.1 - 12 1639 c.1481G>T c.(1480-1482)cGa>cTa p.R494L NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 494 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) AGAAGCTTCTCGAACATTGAG 0.373000 36 68 1.59932e-28 2.47198e-28 0.007835 1 0 KLHL4 56062 broad.mit.edu 37 X 86919890 86919890 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:86919890G>A ENST00000373119.4 + 10 2197 c.2052G>A c.(2050-2052)ttG>ttA p.L684L KLHL4_ENST00000373114.4_Silent_p.L684L NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 684 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 ATACTTATTTGAACACAGTTG 0.383000 23 18 0 0 0.006320 0 0 LYN 4067 broad.mit.edu 37 8 56879420 56879420 + Nonsense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:56879420G>T ENST00000520220.2 + 9 1148 c.874G>T c.(874-876)Gag>Tag p.E292* LYN_ENST00000519728.1_Nonsense_Mutation_p.E313*|LYN_ENST00000420292.1_3'UTR NM_001111097.2 NP_001104567.1 P07948 LYN_HUMAN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 313 Protein kinase. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) CACCAGGGAGGAGCCCATTTA 0.512000 15 57 1.5739e-10 1.95752e-10 0.004007 1 0 PRX 57716 broad.mit.edu 37 19 40909731 40909731 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:40909731C>G ENST00000291825.7 - 5 334 c.66G>C c.(64-66)gaG>gaC p.E22D PRX_ENST00000324001.7_Missense_Mutation_p.E22D NM_020956.2 NP_066007.1 Q9BXM0 PRAX_HUMAN periaxin 22 PDZ. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCGCCTCCGTCTCCACGATAA 0.692000 6 15 0 0 0.001168 0 0 ANKRD13D 338692 broad.mit.edu 37 11 67068516 67068516 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:67068516G>T ENST00000447274.2 + 11 2043 c.868G>T c.(868-870)Gtg>Ttg p.V290L ANKRD13D_ENST00000514166.1_Missense_Mutation_p.V290L|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.V290L|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.V377L|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.V27L Q6ZTN6 AN13D_HUMAN ankyrin repeat domain 13 family, member D 290 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GGGTGACCAGGTGACCCCCAT 0.607000 16 29 3.52763e-06 3.92838e-06 0.004990 1 0 IRF7 3665 broad.mit.edu 37 11 613308 613308 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:613308C>T ENST00000397566.1 - 7 1583 c.1174G>A c.(1174-1176)Gag>Aag p.E392K IRF7_ENST00000525445.1_Missense_Mutation_p.E273K|IRF7_ENST00000397562.3_Missense_Mutation_p.E86K|IRF7_ENST00000397570.1_Missense_Mutation_p.E350K|IRF7_ENST00000397574.2_Missense_Mutation_p.E379K|IRF7_ENST00000330243.5_Missense_Mutation_p.E392K|IRF7_ENST00000348655.6_Missense_Mutation_p.E350K NM_004031.2 NP_004022.2 Q92985 IRF7_HUMAN interferon regulatory factor 7 379 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCGCCCACCTCCCAGTACACC 0.677000 13 32 0 0 0.001855 0 0 RXRA 6256 broad.mit.edu 37 9 137293648 137293648 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:137293648G>T ENST00000481739.1 + 2 251 c.199G>T c.(199-201)Gtc>Ttc p.V67F RXRA_ENST00000356384.4_3'UTR NM_002957.4 NP_002948.1 P19793 RXRA_HUMAN retinoid X receptor, alpha 67 Modulating (By similarity). cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) GCCTTTCTCGGTCATCAGCTC 0.697000 124 40 4.56963e-79 7.53179e-79 0.014410 1 0 MAP2K3 5606 broad.mit.edu 37 17 21205550 21205550 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:21205550C>A ENST00000342679.4 + 6 744 c.495C>A c.(493-495)atC>atA p.I165I MAP2K3_ENST00000361818.5_Silent_p.I136I|MAP2K3_ENST00000316920.6_Silent_p.I136I NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 165 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) CAGAGGACATCCTTGGGGAGA 0.582000 16 52 6.49762e-13 8.53744e-13 0.006122 1 0 LMLN 89782 broad.mit.edu 37 3 197707351 197707351 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:197707351G>A ENST00000330198.4 + 6 726 c.704G>A c.(703-705)tGt>tAt p.C235Y LMLN_ENST00000420910.2_Missense_Mutation_p.C235Y|LMLN_ENST00000332636.5_Missense_Mutation_p.C183Y|LMLN_ENST00000482695.1_Missense_Mutation_p.C183Y NM_033029.3 NP_149018.2 Q96KR4 LMLN_HUMAN leishmanolysin-like (metallopeptidase M8 family) 235 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) GCAGCCTATTGTCAGCAGGAA 0.433000 13 277 0 0 0.004007 0 0 TARS 6897 broad.mit.edu 37 5 33461070 33461070 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:33461070G>A ENST00000265112.3 + 12 1625 c.1314G>A c.(1312-1314)ggG>ggA p.G438G TARS_ENST00000502553.1_Silent_p.G438G|TARS_ENST00000541634.1_Silent_p.G334G|TARS_ENST00000414361.2_Silent_p.G317G|TARS_ENST00000455217.2_Silent_p.G471G NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase 438 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) CTGATTTTGGGGTACTTCATA 0.502000 18 48 0 0 0.006122 0 0 PDHA2 5161 broad.mit.edu 37 4 96762223 96762223 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:96762223G>A ENST00000295266.4 + 1 985 c.922G>A c.(922-924)Gta>Ata p.V308I NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 308 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity 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) AATTCAGGAAGTAAGAAGTAA 0.438000 38 22 0 0 0.005524 0 0 TRIM51 84767 broad.mit.edu 37 11 55658943 55658943 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:55658943G>T ENST00000449290.2 + 7 1286 c.1194G>T c.(1192-1194)gtG>gtT p.V398V TRIM51_ENST00000244891.3_Silent_p.V255V NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 398 B30.2/SPRY. intracellular zinc ion binding CCCCACTTGTGGTGCAATATG 0.448000 24 41 7.26314e-15 9.78488e-15 0.007291 1 0 FOXB2 442425 broad.mit.edu 37 9 79634859 79634859 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:79634859T>A ENST00000376708.1 + 1 289 c.289T>A c.(289-291)Ttc>Atc p.F97I NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 97 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|lung(8)|ovary(1) 10 CGGGGACATGTTCGAGAACGG 0.652000 26 35 0 0 0.004656 0 0 C1orf110 339512 broad.mit.edu 37 1 162824618 162824618 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:162824618G>A ENST00000367910.1 - 4 966 c.846C>T c.(844-846)tcC>tcT p.S282S C1orf110_ENST00000367912.1_Intron|C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000524691.1_Intron NM_178550.4 NP_848645.3 Q86UF4 CA110_HUMAN chromosome 1 open reading frame 110 282 endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 12 TGGATGATGAGGATTCCCCAT 0.473000 50 71 0 0 0.014410 0 0 ZNF32 7580 broad.mit.edu 37 10 44140211 44140211 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:44140211C>T ENST00000395797.1 - 3 297 c.109G>A c.(109-111)Gag>Aag p.E37K ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000485351.1_5'UTR|ZNF32_ENST00000374433.2_Missense_Mutation_p.E37K|ZNF32-AS1_ENST00000453284.1_RNA NM_001005368.1 NP_001005368.1 P17041 ZNF32_HUMAN zinc finger protein 32 37 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 14 all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157) Lung(62;0.179) CCTGTAGCCTCAGAGTGGTCA 0.418000 14 90 0 0 0.002450 0 0 DUPD1 338599 broad.mit.edu 37 10 76803730 76803730 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:76803730C>T ENST00000338487.5 - 2 245 c.246G>A c.(244-246)acG>acA p.T82T NM_001003892.1 NP_001003892.1 Q68J44 DUPD1_HUMAN dual specificity phosphatase and pro isomerase domain containing 1 82 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1) 11 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) TCAGCACGTGCGTGAACCCCG 0.711000 13 13 0 0 0.001855 0 0 GRID1 2894 broad.mit.edu 37 10 87614373 87614373 + Splice_Site SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:87614373C>A ENST00000327946.7 - 8 1199 c.e8-1 NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) TGATGTGGCCCTGCAGAAGAG 0.498000 Multiple Myeloma(13;0.14) 23 9 5.35356e-11 6.7258e-11 0.002780 1 0 KMT2C 58508 broad.mit.edu 37 7 151877135 151877135 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:151877135T>C ENST00000355193.2 - 37 7444 c.7226A>G c.(7225-7227)cAg>cGg p.Q2409R KMT2C_ENST00000262189.6_Missense_Mutation_p.Q2409R lysine (K)-specific methyltransferase 2C GGGTGAGTCCTGTGACCCCTT 0.517000 99 190 0 0 0.014410 0 0 PARP3 10039 broad.mit.edu 37 3 51982442 51982442 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:51982442C>T ENST00000417220.2 + 12 2036 c.1548C>T c.(1546-1548)ctC>ctT p.L516L PARP3_ENST00000486510.1_3'UTR|PARP3_ENST00000398755.3_Silent_p.L523L|PARP3_ENST00000431474.1_Silent_p.L516L Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 516 PARP catalytic. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GCGAGTACCTCATCTACCAGG 0.642000 38 15 0 0 0.009718 0 0 RYR2 6262 broad.mit.edu 37 1 237843850 237843850 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:237843850C>G ENST00000366574.2 + 62 9307 c.8990C>G c.(8989-8991)tCc>tGc p.S2997C RYR2_ENST00000542537.1_Missense_Mutation_p.S2981C|RYR2_ENST00000360064.6_Missense_Mutation_p.S2995C NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2997 Calmodulin-binding (Potential).|Modulator (Potential). 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) GGACATGCTTCCAACAAAGAG 0.388000 9 8 0 0 0.006214 0 0 FBXO34 55030 broad.mit.edu 37 14 55818402 55818402 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:55818402G>A ENST00000313833.4 + 2 1539 c.1294G>A c.(1294-1296)Gtt>Att p.V432I FBXO34_ENST00000440021.1_Missense_Mutation_p.V432I NM_017943.3 NP_060413.2 Q9NWN3 FBX34_HUMAN F-box protein 34 432 V -> A (in dbSNP:rs35070799). breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3) 22 CACAGATGCTGTTGATTGTAT 0.418000 16 282 0 0 0.007413 0 0 EXOC1 55763 broad.mit.edu 37 4 56744196 56744196 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:56744196G>A ENST00000381295.2 + 9 1536 c.1188G>A c.(1186-1188)aaG>aaA p.K396K EXOC1_ENST00000349598.6_Silent_p.K396K|EXOC1_ENST00000346134.7_Silent_p.K396K NM_001024924.1 NP_001020095.1 Q9NV70 EXOC1_HUMAN exocyst complex component 1 396 exocytosis|protein transport exocyst protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 35 Glioma(25;0.08)|all_neural(26;0.101) AGTGGCTAAAGAGTACAGATT 0.383000 46 31 0 0 0.014410 0 0 MYLK2 85366 broad.mit.edu 37 20 30408307 30408307 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:30408307C>T ENST00000375994.2 + 2 704 c.431C>T c.(430-432)cCt>cTt p.P144L MYLK2_ENST00000375985.4_Missense_Mutation_p.P144L Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 144 P -> A (in dbSNP:rs34396614). cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AGGGGCTCACCTGCCTTTCTG 0.637000 39 40 0 0 0.006999 0 0 KCNT2 343450 broad.mit.edu 37 1 196227558 196227558 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:196227558G>T ENST00000367433.5 - 25 3006 c.2905C>A c.(2905-2907)Cgc>Agc p.R969S KCNT2_ENST00000367431.4_Missense_Mutation_p.R927S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.R993S|KCNT2_ENST00000451324.2_3'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 993 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TGGTTGCTGCGGTGGTGCCCT 0.468000 40 79 6.48837e-15 8.75694e-15 0.010771 1 0 TP53 7157 broad.mit.edu 37 17 7577569 7577569 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:7577569A>T ENST00000420246.2 - 7 844 c.712T>A c.(712-714)Tgt>Agt p.C238S TP53_ENST00000269305.4_Missense_Mutation_p.C238S|TP53_ENST00000413465.2_Missense_Mutation_p.C238S|TP53_ENST00000445888.2_Missense_Mutation_p.C238S|TP53_ENST00000455263.2_Missense_Mutation_p.C238S|TP53_ENST00000359597.4_Missense_Mutation_p.C238S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 238 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C238R(14)|p.C238S(12)|p.0?(8)|p.?(5)|p.C238G(4)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.C238fs*2(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.C145G(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.M237fs*1(1)|p.C238fs*9(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) GAACTGTTACACATGTAGTTG 0.567000 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) 23 54 0 0 0.003954 0 0 STAB2 55576 broad.mit.edu 37 12 104152959 104152959 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:104152959T>C ENST00000388887.2 + 65 7360 c.7156T>C c.(7156-7158)Ttt>Ctt p.F2386L RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2386 FAS1 7. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TGTCAGCATGTTTTTCTACAA 0.507000 58 51 0 0 0.014410 0 0 ECEL1 9427 broad.mit.edu 37 2 233349956 233349956 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:233349956G>T ENST00000304546.1 - 3 1018 c.808C>A c.(808-810)Ctg>Atg p.L270M ECEL1_ENST00000409941.1_Missense_Mutation_p.L270M NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 270 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) CTCTCTGGCAGGGTGAGCCCA 0.632000 16 5 2.21704e-12 2.87751e-12 0.002780 1 0 OR8J1 219477 broad.mit.edu 37 11 56128446 56128446 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:56128446G>A ENST00000303039.3 + 1 756 c.724G>A c.(724-726)Gct>Act p.A242T NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) TTCTACCTGTGCTTCACATAT 0.348000 49 79 0 0 0.014410 0 0 DARC 2532 broad.mit.edu 37 1 159175930 159175930 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:159175930C>A ENST00000537147.1 + 3 1544 c.701C>A c.(700-702)gCa>gAa p.A234E DARC_ENST00000368121.2_Missense_Mutation_p.A236E|DARC_ENST00000368122.2_Missense_Mutation_p.A234E Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 234 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) CTGAAGAAGGCATTGGGTATG 0.542000 26 62 6.12954e-19 8.64868e-19 0.004656 1 0 PROM2 150696 broad.mit.edu 37 2 95952298 95952298 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:95952298C>A ENST00000317620.9 + 17 2152 c.2019C>A c.(2017-2019)gtC>gtA p.V673V PROM2_ENST00000403131.2_Silent_p.V673V|PROM2_ENST00000317668.4_Silent_p.V673V|PROM2_ENST00000542147.1_Silent_p.V624V NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 673 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 AGGAGAAGGTCGTCCCCCAGC 0.612000 34 44 2.87052e-16 3.93113e-16 0.005524 1 0 VRTN 55237 broad.mit.edu 37 14 74825284 74825284 + Missense_Mutation SNP G G A rs45447993 by1000genomes TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:74825284G>A ENST00000256362.4 + 2 2039 c.1798G>A c.(1798-1800)Gag>Aag p.E600K NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 600 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 AGAAGATGTAGAGGGAGGGCC 0.662000 52 20 0 0 0.014410 0 0 IMMP1L 196294 broad.mit.edu 37 11 31484808 31484808 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:31484808G>A ENST00000278200.1 - 3 211 c.16C>T c.(16-18)Ctg>Ttg p.L6L IMMP1L_ENST00000526776.1_Silent_p.L6L|IMMP1L_ENST00000533642.1_Intron|IMMP1L_ENST00000528161.1_Intron|IMMP1L_ENST00000534812.1_Intron|IMMP1L_ENST00000532287.1_Silent_p.L6L NM_144981.1 NP_659418.1 Q96LU5 IMP1L_HUMAN IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) 6 proteolysis mitochondrial inner membrane serine-type peptidase activity breast(1)|cervix(1)|large_intestine(1)|lung(4) 7 Lung SC(675;0.225) GTTTTCCCCAGAACACCACGA 0.363000 6 79 0 0 0.001984 0 0 DNAH2 146754 broad.mit.edu 37 17 7662908 7662908 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:7662908C>G ENST00000572933.1 + 16 4077 c.2617C>G c.(2617-2619)Ctg>Gtg p.L873V DNAH2_ENST00000389173.2_Missense_Mutation_p.L873V Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 873 Stem (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) GAAGAATGATCTGCAAGGAAG 0.448000 10 98 0 0 0.008291 0 0 HDAC6 10013 broad.mit.edu 37 X 48681696 48681696 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:48681696G>C ENST00000334136.5 + 25 3065 c.2887G>C c.(2887-2889)Gac>Cac p.D963H HDAC6_ENST00000444343.2_Missense_Mutation_p.D977H|HDAC6_ENST00000376619.2_Missense_Mutation_p.D963H Q9UBN7 HDAC6_HUMAN histone deacetylase 6 963 aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) AGCCATTCTGGACCAGACCAC 0.647000 3 14 0 0 0.004672 0 0 KIF1A 547 broad.mit.edu 37 2 241661290 241661290 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:241661290C>T ENST00000498729.2 - 44 4923 c.4677G>A c.(4675-4677)ctG>ctA p.L1559L KIF1A_ENST00000320389.7_Silent_p.L1458L NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 1458 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) TGTGCGTGAGCAGGCGCAAGC 0.657000 6 2 0 0 0.001984 0 0 NBAS 51594 broad.mit.edu 37 2 15415825 15415825 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:15415825T>A ENST00000281513.5 - 44 5532 c.5507A>T c.(5506-5508)aAg>aTg p.K1836M NBAS_ENST00000441750.1_Missense_Mutation_p.K1716M NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1836 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 CTGTCCATCCTTTTCAGGGAT 0.433000 17 54 0 0 0.006122 0 0 C16orf93 90835 broad.mit.edu 37 16 30770423 30770423 + Splice_Site SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:30770423C>T ENST00000543610.1 - 8 1689 c.e8-1 C16orf93_ENST00000541260.1_Splice_Site|PHKG2_ENST00000424889.3_Intron|PHKG2_ENST00000563588.1_3'UTR NM_001014979.2 NP_001014979.2 A1A4V9 CP093_HUMAN chromosome 16 open reading frame 93 breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6) 11 TCTTCTTTCTCTGCAAACCAG 0.587000 148 139 0 0 0.014410 0 0 RBM34 23029 broad.mit.edu 37 1 235324273 235324273 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:235324273G>A ENST00000408888.3 - 2 393 c.163C>T c.(163-165)Cgg>Tgg p.R55W RBM34_ENST00000366606.3_Missense_Mutation_p.R50W P42696 RBM34_HUMAN RNA binding motif protein 34 55 nucleolus nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) GACGCCAGCCGACCGGTGCCA 0.587000 16 61 0 0 0.004007 0 0 TTN 7273 broad.mit.edu 37 2 179613353 179613353 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:179613353C>T ENST00000360870.5 - 46 13996 c.13774G>A c.(13774-13776)Gaa>Aaa p.E4592K TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 717 Ig-like 26. 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) CTATCTAATTCTTGGAATTTC 0.318000 11 234 0 0 0.013537 0 0 ZP1 22917 broad.mit.edu 37 11 60637115 60637115 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:60637115C>A ENST00000278853.5 + 3 424 c.424C>A c.(424-426)Cgg>Agg p.R142R NM_207341.2 NP_997224.2 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 (sperm receptor) 142 single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 TGACCCCTCCCGGACTCTGGA 0.597000 20 27 3.08376e-08 3.62366e-08 0.003330 1 0 DSCAM 1826 broad.mit.edu 37 21 41539196 41539196 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr21:41539196C>A ENST00000400454.1 - 16 3444 c.2967G>T c.(2965-2967)caG>caT p.Q989H NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 989 Fibronectin type-III 2. 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) GGTGAACTTCCTGAGGTGGAC 0.532000 18 42 7.45023e-12 9.58621e-12 0.010504 1 0 RUNX1T1 862 broad.mit.edu 37 8 93027017 93027017 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:93027017G>A ENST00000523629.1 - 4 712 c.258C>T c.(256-258)gcC>gcT p.A86A RUNX1T1_ENST00000265814.3_Silent_p.A86A|RUNX1T1_ENST00000360348.2_Silent_p.A49A|RUNX1T1_ENST00000396218.1_Silent_p.A59A|RUNX1T1_ENST00000436581.2_Silent_p.A97A|RUNX1T1_ENST00000520724.1_Silent_p.A49A|RUNX1T1_ENST00000422361.2_Silent_p.A49A|RUNX1T1_ENST00000518844.1_Silent_p.A59A|RUNX1T1_ENST00000521553.1_Silent_p.A49A NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 86 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) CGCCATTCAAGGCTGTAGGAG 0.512000 8 51 0 0 0.006214 0 0 ALX4 60529 broad.mit.edu 37 11 44286554 44286554 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:44286554C>T ENST00000329255.3 - 4 1189 c.1086G>A c.(1084-1086)acG>acA p.T362T NM_021926.3 NP_068745.2 Q9H161 ALX4_HUMAN ALX homeobox 4 362 hair follicle development central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 TGCCCATGTGCGTCTGGCCCA 0.677000 12 41 0 0 0.013537 0 0 USP27X 389856 broad.mit.edu 37 X 49646067 49646067 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:49646067G>A ENST00000508866.2 + 1 1598 c.1157G>A c.(1156-1158)cGg>cAg p.R386Q NM_001145073.1 NP_001138545.1 A6NNY8 UBP27_HUMAN ubiquitin specific peptidase 27, X-linked 386 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(7) 7 AGCTTCATCCGGCACCACAAG 0.458000 15 18 0 0 0.010504 0 0 ATP6V0D2 245972 broad.mit.edu 37 8 87126074 87126074 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:87126074C>A ENST00000285393.3 + 2 409 c.267C>A c.(265-267)tcC>tcA p.S89S CTD-3118D11.2_ENST00000522679.1_RNA NM_152565.1 NP_689778.1 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 89 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1) 27 GGAATCATTCCCTGGAGCCCC 0.423000 25 121 4.59853e-10 5.64399e-10 0.005443 1 0 DNAH11 8701 broad.mit.edu 37 7 21747362 21747362 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:21747362C>T ENST00000328843.6 + 41 6644 c.6613C>T c.(6613-6615)Ccg>Tcg p.P2205S DNAH11_ENST00000409508.3_Missense_Mutation_p.P2198S Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2205 AAA 2 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity 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 GAAACAGAAGCCGGTTTGGAA 0.383000 Kartagener syndrome 13 25 0 0 0.003163 0 0 PEX1 5189 broad.mit.edu 37 7 92143172 92143172 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:92143172C>G ENST00000248633.4 - 6 1444 c.1349G>C c.(1348-1350)aGa>aCa p.R450T PEX1_ENST00000428214.1_Missense_Mutation_p.R450T|PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Missense_Mutation_p.R128T NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 450 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TAAATTCTCTCTAGGTTGTAA 0.328000 41 70 0 0 0.007835 0 0 SGCZ 137868 broad.mit.edu 37 8 13959908 13959908 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:13959908G>T ENST00000382080.1 - 7 1436 c.721C>A c.(721-723)Cat>Aat p.H241N SGCZ_ENST00000421524.2_Missense_Mutation_p.H194N NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 228 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) GATTGCAGATGGAGCTCCTTC 0.512000 24 63 1.10513e-12 1.44951e-12 0.014323 1 0 ACHE 43 broad.mit.edu 37 7 100490790 100490790 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:100490790A>G ENST00000302913.4 - 2 1202 c.1064T>C c.(1063-1065)cTg>cCg p.L355P ACHE_ENST00000428317.1_Missense_Mutation_p.L355P|ACHE_ENST00000419336.2_Missense_Mutation_p.L355P|ACHE_ENST00000412389.1_Missense_Mutation_p.L355P|ACHE_ENST00000411582.1_Missense_Mutation_p.L355P|ACHE_ENST00000241069.5_Missense_Mutation_p.L355P NM_015831.2 NP_056646.1 P22303 ACES_HUMAN acetylcholinesterase 355 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity large_intestine(3)|lung(7)|skin(3)|urinary_tract(3) 16 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) AGTTACCTGCAGGCCGTGGAA 0.622000 7 19 0 0 0.001984 0 0 CEP350 9857 broad.mit.edu 37 1 180006140 180006140 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:180006140G>T ENST00000367607.3 + 17 4444 c.4026G>T c.(4024-4026)tcG>tcT p.S1342S NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1342 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 TTGAGGAGTCGGTGCGCCAAC 0.468000 7 7 5.4927e-09 6.55779e-09 0.004482 1 0 ZNF346 23567 broad.mit.edu 37 5 176489129 176489129 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:176489129C>T ENST00000503039.1 + 7 853 c.849C>T c.(847-849)gtC>gtT p.V283V ZNF346_ENST00000506693.1_Silent_p.V160V|ZNF346_ENST00000503425.1_Silent_p.V226V|ZNF346_ENST00000512315.1_Silent_p.V82V|ZNF346_ENST00000358149.3_Silent_p.V258V|ZNF346_ENST00000261948.4_Silent_p.V283V|ZNF346_ENST00000511834.1_Silent_p.V274V Q9UL40 ZN346_HUMAN zinc finger protein 346 258 cytoplasm|nucleolus double-stranded RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 14 all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) 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) AAGCTCATGTCAGCGGCTTCA 0.423000 66 48 0 0 0.014410 0 0 PXN 5829 broad.mit.edu 37 12 120652757 120652757 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:120652757G>T ENST00000397506.3 - 6 1638 c.585C>A c.(583-585)gtC>gtA p.V195V PXN_ENST00000458477.2_Silent_p.V216V|PXN_ENST00000267257.7_Silent_p.V397V|PXN_ENST00000228307.7_Silent_p.V383V|PXN_ENST00000536957.1_Silent_p.V381V|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000424649.2_Silent_p.V349V P49023 PAXI_HUMAN paxillin 383 cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGTGGGTGCAGACGAAGTGCT 0.632000 4 23 0.00024832 0.000265421 0.009096 1 0 CROCC 9696 broad.mit.edu 37 1 17295649 17295649 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:17295649G>T ENST00000375541.5 + 32 5184 c.5115G>T c.(5113-5115)ctG>ctT p.L1705L NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 1705 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CCCTGCAGCTGACCGTGGAGC 0.667000 3 11 0.004672 0.00481416 0.004672 1 0 CCDC22 28952 broad.mit.edu 37 X 49099871 49099871 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:49099871C>T ENST00000376227.3 + 6 827 c.657C>T c.(655-657)ggC>ggT p.G219G CCDC22_ENST00000496651.1_3'UTR NM_014008.3 NP_054727.1 O60826 CCD22_HUMAN coiled-coil domain containing 22 219 NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 18 AGCAGACGGGCCGGGACCGGC 0.682000 7 13 0 0 0.003080 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42117604 42117604 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:42117604C>T ENST00000457542.2 + 31 4783 c.4497C>T c.(4495-4497)gcC>gcT p.A1499A MAPKBP1_ENST00000514566.1_Silent_p.A1222A|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000221214.6_Silent_p.A1382A|MAPKBP1_ENST00000456763.2_Silent_p.A1505A|MAPKBP1_ENST00000260357.7_Silent_p.A1338A NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 1505 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) TGCTTCGAGCCGTGGAACGGC 0.607000 13 22 0 0 0.003163 0 0 PITPNM2 57605 broad.mit.edu 37 12 123485364 123485364 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:123485364G>A ENST00000280562.5 - 9 1390 c.1185C>T c.(1183-1185)ttC>ttT p.F395F PITPNM2_ENST00000546049.1_Silent_p.F433F|PITPNM2_ENST00000542749.1_Silent_p.F395F|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000392428.1_Silent_p.F116F|PITPNM2_ENST00000320201.4_Silent_p.F395F Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 395 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) AGGCCACCCTGAACTCAGGGG 0.652000 4 26 0 0 0.009096 0 0 AKAP4 8852 broad.mit.edu 37 X 49958928 49958928 + Nonsense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:49958928C>A ENST00000376056.2 - 5 559 c.409G>T c.(409-411)Gaa>Taa p.E137* AKAP4_ENST00000376064.3_Nonsense_Mutation_p.E137*|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Nonsense_Mutation_p.E146*|AKAP4_ENST00000376058.2_Nonsense_Mutation_p.E137* Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 146 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) CTGTGATATTCGCCCTCTGTG 0.448000 55 46 5.39261e-20 7.77078e-20 0.014410 1 0 FOXP3 50943 broad.mit.edu 37 X 49108103 49108103 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:49108103C>T ENST00000557224.1 - 9 1062 c.1063G>A c.(1063-1065)Gtg>Atg p.V355M FOXP3_ENST00000376207.4_Intron|FOXP3_ENST00000376197.1_Missense_Mutation_p.V340M|FOXP3_ENST00000455775.2_Intron|FOXP3_ENST00000518685.1_Intron|FOXP3_ENST00000376199.2_Intron Q9BZS1 FOXP3_HUMAN forkhead box P3 390 B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen cytoplasm|nucleus|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1) 10 Ovarian(276;0.236) ATCCCAGTCACCGCCACCTCA 0.577000 9 18 0 0 0.004482 0 0 LAIR2 3904 broad.mit.edu 37 19 55019222 55019222 + Nonsense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:55019222G>T ENST00000301202.2 + 3 309 c.187G>T c.(187-189)Gag>Tag p.E63* LAIR2_ENST00000351841.2_Nonsense_Mutation_p.E63* NM_002288.4 NP_002279.2 Q6ISS4 LAIR2_HUMAN leukocyte-associated immunoglobulin-like receptor 2 63 Ig-like C2-type. extracellular region receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1) 18 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) CCTGGAGAGGGAGGATAGAGC 0.527000 51 76 2.24722e-20 3.25083e-20 0.014410 1 0 SP140L 93349 broad.mit.edu 37 2 231248247 231248247 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:231248247G>T ENST00000243810.6 + 8 660 c.660G>T c.(658-660)tgG>tgT p.W220C SP140L_ENST00000396563.4_Missense_Mutation_p.W220C|SP140L_ENST00000415673.2_Missense_Mutation_p.W220C|SP140L_ENST00000444636.1_Missense_Mutation_p.W220C Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 220 nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 GGCATGGCTGGAGCAGAATGG 0.358000 8 15 2.17888e-05 2.36973e-05 0.006214 1 0 KIF12 113220 broad.mit.edu 37 9 116858353 116858353 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:116858353G>C ENST00000374118.3 - 6 696 c.459C>G c.(457-459)atC>atG p.I153M KIF12_ENST00000473174.1_Intron NM_138424.1 NP_612433.1 Q96FN5 KIF12_HUMAN kinesin family member 12 286 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 GGCTTCGGTTGATGCTGTTAG 0.617000 39 68 0 0 0.009718 0 0 CIT 11113 broad.mit.edu 37 12 120173008 120173008 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:120173008C>A ENST00000392521.2 - 25 3168 c.3113G>T c.(3112-3114)cGg>cTg p.R1038L CIT_ENST00000261833.7_Missense_Mutation_p.R996L|CIT_ENST00000537607.1_5'UTR NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 996 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CGTGATCTCCCGGCGGAGATG 0.498000 31 88 4.3181e-19 6.13928e-19 0.013726 1 0 XXbac-BPG308J9.3 0 broad.mit.edu 37 6 29230585 29230585 + RNA SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:29230585A>T ENST00000441381.1 + 0 79 ACCTATATCTAACAGTCCCAT 0.438000 29 19 0 0 0.008361 0 0 NCOA6 23054 broad.mit.edu 37 20 33337564 33337564 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:33337564C>A ENST00000374796.2 - 10 5004 c.2434G>T c.(2434-2436)Gtc>Ttc p.V812F NCOA6_ENST00000359003.2_Missense_Mutation_p.V812F Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 812 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 GATAAACTGACATCGTTATTT 0.542000 48 71 1.56793e-16 2.15517e-16 0.014410 1 0 DNMT3A 1788 broad.mit.edu 37 2 25464448 25464448 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:25464448T>A ENST00000264709.3 - 17 2402 c.2065A>T c.(2065-2067)Agc>Tgc p.S689C DNMT3A_ENST00000380746.4_Missense_Mutation_p.S500C|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.S689C|DNMT3A_ENST00000402667.1_Missense_Mutation_p.S466C NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 689 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTGTGACGCTGCGGACGTCC 0.612000 """Mis, F, N, S""" AML 9 43 0 0 0.006214 0 0 DPP10 57628 broad.mit.edu 37 2 116598360 116598360 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:116598360C>G ENST00000410059.1 + 25 2697 c.2217C>G c.(2215-2217)atC>atG p.I739M DPP10_ENST00000393147.2_Missense_Mutation_p.I743M|DPP10_ENST00000409163.1_Missense_Mutation_p.I689M|DPP10_ENST00000310323.8_Missense_Mutation_p.I732M NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 739 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 CAGAATTAATCAAGCACCTAA 0.343000 37 52 0 0 0.008740 0 0 AP3B1 8546 broad.mit.edu 37 5 77385258 77385258 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:77385258G>T ENST00000255194.6 - 22 2711 c.2536C>A c.(2536-2538)Ctt>Att p.L846I AP3B1_ENST00000519295.1_Missense_Mutation_p.L797I NM_001271769.1 NP_001258698.1 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 subunit 846 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) AAACCTTCAAGATCAGCCATC 0.393000 Hermansky-Pudlak syndrome 28 14 1.5548e-18 2.18552e-18 0.005443 1 0 CHAT 1103 broad.mit.edu 37 10 50863176 50863176 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:50863176C>T ENST00000395562.2 + 13 1893 c.1424C>T c.(1423-1425)gCg>gTg p.A475V CHAT_ENST00000455728.2_Missense_Mutation_p.A439V|CHAT_ENST00000339797.1_Missense_Mutation_p.A439V|CHAT_ENST00000351556.3_Missense_Mutation_p.A439V|CHAT_ENST00000337653.2_Missense_Mutation_p.A557V|CHAT_ENST00000395559.2_Missense_Mutation_p.A439V NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 557 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity p.A557V(1) central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) TACGAGAGCGCGTCCATCCGC 0.547000 15 45 0 0 0.002450 0 0 PRSS1 5644 broad.mit.edu 37 7 142459743 142459743 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:142459743G>A ENST00000486171.1 + 4 378 c.361G>A c.(361-363)Gac>Aac p.D121N PRSS1_ENST00000311737.7_Missense_Mutation_p.D107N P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 107 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) TCTGAACAATGACATCATGTT 0.552000 11 165 0 0 0.010729 0 0 SPATA17 128153 broad.mit.edu 37 1 217822275 217822275 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:217822275A>T ENST00000366933.4 + 2 175 c.120A>T c.(118-120)caA>caT p.Q40H NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 40 IQ 1. cytoplasm calmodulin binding endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) TTAAAATCCAAAGCTGGTTTC 0.303000 25 60 0 0 0.010818 0 0 ECEL1 9427 broad.mit.edu 37 2 233349955 233349955 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:233349955A>T ENST00000304546.1 - 3 1019 c.809T>A c.(808-810)cTg>cAg p.L270Q ECEL1_ENST00000409941.1_Missense_Mutation_p.L270Q NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 270 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) CCTCTCTGGCAGGGTGAGCCC 0.632000 15 5 0 0 0.002780 0 0 SFMBT1 51460 broad.mit.edu 37 3 52945182 52945182 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:52945182C>A ENST00000394752.3 - 17 2125 c.1743G>T c.(1741-1743)aaG>aaT p.K581N SFMBT1_ENST00000394750.1_Missense_Mutation_p.K581N|SFMBT1_ENST00000358080.2_Missense_Mutation_p.K581N|SFMBT1_ENST00000296295.6_Missense_Mutation_p.K581N NM_016329.3 NP_057413.2 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 581 regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) CCCGATAACTCTTTCCTTTAT 0.388000 41 22 1.6237e-14 2.17956e-14 0.013114 1 0 DST 667 broad.mit.edu 37 6 56481471 56481471 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:56481471G>A ENST00000370765.6 - 24 6901 c.6794C>T c.(6793-6795)cCa>cTa p.P2265L DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1607 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AGCAATTTCTGGAGGAACACG 0.438000 26 93 0 0 0.005443 0 0 CACNA1E 777 broad.mit.edu 37 1 181690908 181690908 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:181690908G>A ENST00000526775.1 + 16 2136 c.1971G>A c.(1969-1971)gaG>gaA p.E657E CACNA1E_ENST00000367567.4_Silent_p.E264E|CACNA1E_ENST00000357570.5_Silent_p.E608E|CACNA1E_ENST00000358338.5_Silent_p.E608E|CACNA1E_ENST00000367570.1_Silent_p.E657E|CACNA1E_ENST00000367573.2_Silent_p.E657E|CACNA1E_ENST00000360108.3_Silent_p.E657E NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 657 Calcium ion selectivity and permeability (By similarity). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TGACGGGTGAGGACTGGAATG 0.542000 54 122 0 0 0.014410 0 0 ANKRD50 57182 broad.mit.edu 37 4 125591844 125591844 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:125591844C>T ENST00000504087.1 - 4 3625 c.2588G>A c.(2587-2589)tGt>tAt p.C863Y ANKRD50_ENST00000515641.1_Missense_Mutation_p.C684Y NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 863 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 AAGTGCTTCACATATCAATCT 0.408000 63 29 0 0 0.014410 0 0 PTTG1IP 754 broad.mit.edu 37 21 46271460 46271460 + Missense_Mutation SNP T T C rs2236442 by1000genomes TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr21:46271460T>C ENST00000445724.2 - 3 325 c.251A>G c.(250-252)gAg>gGg p.E84G PTTG1IP_ENST00000397887.3_3'UTR|PTTG1IP_ENST00000397886.3_3'UTR|PTTG1IP_ENST00000330938.3_3'UTR P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 0 PSI. protein import into nucleus cytoplasm|integral to membrane|nucleus p.E84G(1) ovary(1)|prostate(1) 2 Colorectal(79;0.0659) AGCGTGCACCTCACAGGAAGC 0.557000 4 56 0 0 0.009096 0 0 USH2A 7399 broad.mit.edu 37 1 216258127 216258127 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:216258127G>T ENST00000366943.2 - 25 5466 c.5080C>A c.(5080-5082)Cag>Aag p.Q1694K RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.Q1694K|RP11-22M7.2_ENST00000446411.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1694 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) TCAGAACTCTGCCAATCCAGA 0.433000 HNSCC(13;0.011) 54 88 3.4597e-24 5.22815e-24 0.014410 1 0 BRS3 680 broad.mit.edu 37 X 135574475 135574475 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:135574475G>A ENST00000370648.3 + 3 1369 c.1141G>A c.(1141-1143)Gaa>Aaa p.E381K NM_001727.1 NP_001718.1 P32247 BRS3_HUMAN bombesin-like receptor 3 381 adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1) 23 Acute lymphoblastic leukemia(192;0.000127) ACAGATGTCTGAAATTAGTGT 0.542000 13 77 0 0 0.013537 0 0 MYO16 23026 broad.mit.edu 37 13 109793638 109793638 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr13:109793638C>A ENST00000356711.2 + 32 5138 c.5012C>A c.(5011-5013)cCc>cAc p.P1671H MYO16_ENST00000357550.2_Missense_Mutation_p.P1671H NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1671 Pro-rich. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CTCAGCAGCCCCCTGGACGAG 0.672000 6 4 8.12818e-05 8.7255e-05 0.001984 1 0 PIK3R2 5296 broad.mit.edu 37 19 18271316 18271316 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:18271316C>T ENST00000593731.1 + 3 918 c.358C>T c.(358-360)Cca>Tca p.P120S PIK3R2_ENST00000222254.7_Missense_Mutation_p.P120S O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 (beta) 120 Rho-GAP. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1) 24 GCAGTTCTCCCCACCTGATGT 0.602000 29 34 0 0 0.009535 0 0 WDR52 55779 broad.mit.edu 37 3 113099870 113099870 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:113099870T>C ENST00000393845.2 - 16 1994 c.1928A>G c.(1927-1929)tAt>tGt p.Y643C WDR52_ENST00000295868.2_Missense_Mutation_p.Y643C|WDR52_ENST00000475568.1_5'UTR NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 643 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 TTCAAGAATATAGCCATTTTC 0.299000 30 47 0 0 0.010818 0 0 MED12L 116931 broad.mit.edu 37 3 151082807 151082807 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:151082807G>C ENST00000474524.1 + 20 2931 c.2893G>C c.(2893-2895)Gtg>Ctg p.V965L MED12L_ENST00000273432.4_Missense_Mutation_p.V825L|P2RY12_ENST00000302632.3_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 965 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATATAATAACGTGATGCCTGC 0.363000 68 97 0 0 0.014410 0 0 IGKV2D-24 28885 broad.mit.edu 37 2 90044350 90044350 + RNA SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:90044350G>T ENST00000462693.1 + 0 301 CAGTGGCAGTGGGGCAGGGAC 0.512000 107 151 5.87034e-48 9.54892e-48 0.014410 1 0 CUL7 9820 broad.mit.edu 37 6 43020081 43020081 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:43020081C>T ENST00000535468.1 - 2 688 c.602G>A c.(601-603)aGc>aAc p.S201N CUL7_ENST00000265348.3_Missense_Mutation_p.S149N NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 149 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GGGCTCAATGCTGGCATAGGC 0.557000 4 35 0 0 0.009096 0 0 SLC12A6 9990 broad.mit.edu 37 15 34543234 34543234 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:34543234G>T ENST00000354181.3 - 11 1850 c.1358C>A c.(1357-1359)cCc>cAc p.P453H SLC12A6_ENST00000558667.1_Missense_Mutation_p.P453H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.P444H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.P453H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.P438H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.P394H|SLC12A6_ENST00000451844.2_Missense_Mutation_p.P265H|SLC12A6_ENST00000560164.1_Missense_Mutation_p.P265H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.P402H|SLC12A6_ENST00000397702.2_Missense_Mutation_p.P394H Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 453 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) CTCTCCCTTGGGTAGGTAATT 0.383000 28 53 2.48696e-23 3.73545e-23 0.003271 1 0 GLP2R 9340 broad.mit.edu 37 17 9792910 9792910 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:9792910C>A ENST00000262441.5 + 13 2063 c.1550C>A c.(1549-1551)cCc>cAc p.P517H GLP2R_ENST00000574745.1_Missense_Mutation_p.P337H NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 517 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) GGCGCCCAGCCCCAACAGGAC 0.632000 24 29 1.10923e-09 1.35029e-09 0.002780 1 0 ATXN2 6311 broad.mit.edu 37 12 111923529 111923529 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:111923529G>A ENST00000377617.3 - 17 3086 c.2925C>T c.(2923-2925)agC>agT p.S975S ATXN2_ENST00000389153.4_Silent_p.S710S|ATXN2_ENST00000550104.1_Silent_p.S975S|ATXN2_ENST00000542287.2_Silent_p.S710S|ATXN2_ENST00000535949.1_Silent_p.S686S NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 975 Pro-rich. cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 GCACGCCTGGGCTCACTGGGA 0.453000 16 56 0 0 0.007413 0 0 ZFAND6 54469 broad.mit.edu 37 15 80423525 80423525 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:80423525C>T ENST00000261749.6 + 6 790 c.368C>T c.(367-369)tCa>tTa p.S123L ZFAND6_ENST00000561060.1_Missense_Mutation_p.S123L|ZFAND6_ENST00000559157.1_Missense_Mutation_p.S111L|ZFAND6_ENST00000558494.1_Missense_Mutation_p.S123L|ZFAND6_ENST00000558087.1_Missense_Mutation_p.S123L|ZFAND6_ENST00000559835.1_Missense_Mutation_p.S123L|ZFAND6_ENST00000558688.1_Missense_Mutation_p.S123L|ZFAND6_ENST00000559775.1_Missense_Mutation_p.S123L NM_001242913.1|NM_001242914.1|NM_019006.3 NP_001229842.1|NP_001229843.1|NP_061879.2 Q6FIF0 ZFAN6_HUMAN zinc finger, AN1-type domain 6 123 DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 TTGTTAGCTTCAGTATCAGAC 0.393000 9 94 0 0 0.006214 0 0 ISM2 145501 broad.mit.edu 37 14 77948965 77948965 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:77948965C>A ENST00000393684.3 - 5 800 c.409G>T c.(409-411)Gac>Tac p.D137Y ISM2_ENST00000429906.1_Missense_Mutation_p.D144Y|ISM2_ENST00000412904.1_Missense_Mutation_p.D144Y|ISM2_ENST00000342219.4_Missense_Mutation_p.D225Y|ISM2_ENST00000493585.1_Intron Q6H9L7 ISM2_HUMAN isthmin 2 225 extracellular region endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 GCCAACAGGTCTATCGACACC 0.612000 107 151 1.07149e-41 1.72411e-41 0.014410 1 0 ANK2 287 broad.mit.edu 37 4 114275560 114275560 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:114275560C>T ENST00000357077.4 + 38 5839 c.5786C>T c.(5785-5787)tCg>tTg p.S1929L ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S1896L NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1896 Repeat-rich region. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.S1929L(1) 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) CCGCCAGTATCGCCTGGGAGA 0.522000 12 27 0 0 0.003163 0 0 MKRN3 7681 broad.mit.edu 37 15 23811411 23811411 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:23811411C>A ENST00000314520.3 + 1 958 c.482C>A c.(481-483)cCg>cAg p.P161Q MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 161 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding 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) GAAGCCCCCCCGGCTGCATCC 0.642000 17 24 1.15088e-07 1.31706e-07 0.004007 1 0 LRAT 9227 broad.mit.edu 37 4 155665906 155665906 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:155665906G>A ENST00000336356.3 + 2 681 c.428G>A c.(427-429)cGg>cAg p.R143Q LRAT_ENST00000507827.1_Missense_Mutation_p.R143Q NM_004744.3 NP_004735.2 O95237 LRAT_HUMAN lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) 143 response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum phosphatidylcholine-retinol O-acyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9) 16 all_hematologic(180;0.215) Renal(120;0.0458) Vitamin A(DB00162) GAGGTGGCGCGGAGGGCTGAA 0.582000 33 19 0 0 0.003271 0 0 FIGN 55137 broad.mit.edu 37 2 164466811 164466811 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:164466811C>A ENST00000333129.3 - 3 1845 c.1531G>T c.(1531-1533)Gcg>Tcg p.A511S FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 511 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 CCACTGAACGCGTCTGACCTC 0.532000 54 60 9.10829e-22 1.3437e-21 0.014410 1 0 SGCZ 137868 broad.mit.edu 37 8 13959909 13959909 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:13959909G>T ENST00000382080.1 - 7 1435 c.720C>A c.(718-720)ctC>ctA p.L240L SGCZ_ENST00000421524.2_Silent_p.L193L NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 227 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) ATTGCAGATGGAGCTCCTTCC 0.517000 23 62 5.26018e-13 6.93599e-13 0.012319 1 0 PCDH20 64881 broad.mit.edu 37 13 61985813 61985813 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr13:61985813C>T ENST00000409186.1 - 5 4524 c.2419G>A c.(2419-2421)Gaa>Aaa p.E807K PCDH20_ENST00000409204.4_Missense_Mutation_p.E807K Q8N6Y1 PCD20_HUMAN protocadherin 20 780 Cadherin 6. 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) AATGCCTCTTCCAAAGTAATG 0.488000 81 30 0 0 0.014410 0 0 LRP5 4041 broad.mit.edu 37 11 68181317 68181317 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:68181317C>T ENST00000294304.7 + 12 2770 c.2664C>T c.(2662-2664)ttC>ttT p.F888F NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 888 Beta-propeller 3. 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|Wnt receptor signaling pathway involved in dorsal/ventral axis specification 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 ACCTGGACTTCGTGATGGACA 0.592000 27 33 0 0 0.006320 0 0 TFEB 7942 broad.mit.edu 37 6 41653831 41653831 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:41653831G>T ENST00000230323.4 - 9 1249 c.948C>A c.(946-948)atC>atA p.I316I TFEB_ENST00000403298.4_Silent_p.I316I|TFEB_ENST00000420312.1_Silent_p.I231I|TFEB_ENST00000358871.2_Silent_p.I330I|TFEB_ENST00000373033.1_Silent_p.I316I NM_001271945.1|NM_007162.2 NP_001258874.1|NP_009093.1 P19484 TFEB_HUMAN transcription factor EB 316 Leucine-zipper. embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 11 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) ACCAGACCTGGATACGGAGCC 0.537000 T ALPHA renal (childhood epithelioid) 15 61 3.41278e-10 4.20252e-10 0.004990 1 0 SYNE1 23345 broad.mit.edu 37 6 152652521 152652521 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:152652521G>T ENST00000367255.5 - 78 13900 c.13299C>A c.(13297-13299)caC>caA p.H4433Q SYNE1_ENST00000423061.1_Missense_Mutation_p.H4362Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.H4433Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.H4298Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.H4362Q NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4433 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GACAATTCACGTGGCTTTGTG 0.493000 HNSCC(10;0.0054) 35 29 9.80977e-26 1.4976e-25 0.004289 1 0 RNF133 168433 broad.mit.edu 37 7 122338457 122338457 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:122338457G>A ENST00000340112.2 - 1 753 c.516C>T c.(514-516)ctC>ctT p.L172L CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 172 endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 CGGCTGTAATGAGAACTCCCT 0.398000 51 96 0 0 0.014410 0 0 RAB19 401409 broad.mit.edu 37 7 140125809 140125809 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:140125809C>T ENST00000275874.5 + 5 852 c.654C>T c.(652-654)gtC>gtT p.V218V RAB19_ENST00000356407.3_Silent_p.V171V|RAB19_ENST00000537763.1_Silent_p.V171V A4D1S5 RAB19_HUMAN RAB19, member RAS oncogene family 171 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 9 Melanoma(164;0.0142) TAGAAGAAGTCTTCGTGCTCA 0.582000 31 92 0 0 0.010818 0 0 FRMPD4 9758 broad.mit.edu 37 X 12632926 12632926 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:12632926G>A ENST00000380682.1 + 4 854 c.348G>A c.(346-348)ccG>ccA p.P116P NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 116 PDZ. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 AGCTGATCCCGGGAGATCAGA 0.517000 21 73 0 0 0.003330 0 0 EPB41L3 23136 broad.mit.edu 37 18 5397201 5397201 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr18:5397201C>A ENST00000341928.2 - 18 3037 c.2697G>T c.(2695-2697)gaG>gaT p.E899D EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.E677D|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E677D|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E899D|EPB41L3_ENST00000544123.1_Missense_Mutation_p.E730D|EPB41L3_ENST00000542146.1_Missense_Mutation_p.E204D|EPB41L3_ENST00000427684.2_Missense_Mutation_p.E196D NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 899 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 CTTTAGCCCCCTCCGTCAAGG 0.602000 175 53 2.60769e-80 4.3076e-80 0.014410 1 0 TGFB1 7040 broad.mit.edu 37 19 41854358 41854358 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:41854358T>C ENST00000221930.5 - 2 1224 c.358A>G c.(358-360)Atc>Gtc p.I120V NM_000660.4 NP_000651.3 P01137 TGFB1_HUMAN transforming growth factor, beta 1 120 active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix growth factor activity|type II transforming growth factor beta receptor binding endometrium(1)|large_intestine(2)|lung(4)|skin(1) 8 Hyaluronidase(DB00070) TTGTCATAGATTTCTAGCAGG 0.527000 45 68 0 0 0.014410 0 0 COG5 10466 broad.mit.edu 37 7 107198559 107198559 + Splice_Site SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:107198559C>T ENST00000393603.2 - 2 460 c.187_splice c.e2-1 p.G63_splice COG5_ENST00000347053.3_Splice_Site_p.G63_splice|COG5_ENST00000297135.3_Splice_Site_p.G63_splice NM_001161520.1 NP_001154992.1 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 63 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 CACTATAACACCCTGGATTGG 0.308000 10 33 0 0 0.010729 0 0 C17orf47 284083 broad.mit.edu 37 17 56620307 56620307 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:56620307G>T ENST00000321691.3 - 1 1422 c.1241C>A c.(1240-1242)cCt>cAt p.P414H RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA NM_001038704.2 NP_001033793.2 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 414 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGACCGAGGAGGCAAGGGCCT 0.527000 24 79 4.7796e-09 5.73398e-09 0.004656 1 0 NCOA6 23054 broad.mit.edu 37 20 33345322 33345322 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:33345322C>A ENST00000374796.2 - 8 3799 c.1229G>T c.(1228-1230)gGg>gTg p.G410V NCOA6_ENST00000359003.2_Missense_Mutation_p.G410V Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 410 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CCTAGAGGGCCCTCCCTGCAA 0.597000 23 51 2.27731e-05 2.46957e-05 0.012319 1 0 URGCP 55665 broad.mit.edu 37 7 43917780 43917780 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:43917780C>A ENST00000336086.6 - 4 3389 c.1153G>T c.(1153-1155)Gtg>Ttg p.V385L RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000443736.1_Missense_Mutation_p.V385L|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Missense_Mutation_p.V419L|URGCP_ENST00000453200.1_Missense_Mutation_p.V428L|URGCP_ENST00000223341.7_Missense_Mutation_p.V385L|URGCP_ENST00000447717.3_Missense_Mutation_p.V385L Q8TCY9 URGCP_HUMAN upregulator of cell proliferation 428 cell cycle centrosome|nucleus GTP binding breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ATCCTCTTCACGAAGCTGTCG 0.537000 46 110 1.48734e-19 2.13912e-19 0.013114 1 0 CCDC138 165055 broad.mit.edu 37 2 109408221 109408221 + Silent SNP G G A rs36034137 byFrequency TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:109408221G>A ENST00000295124.4 + 4 417 c.357G>A c.(355-357)tcG>tcA p.S119S CCDC138_ENST00000412964.2_Silent_p.S119S|CCDC138_ENST00000470608.1_3'UTR NM_144978.1 NP_659415.1 Q96M89 CC138_HUMAN coiled-coil domain containing 138 119 endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 14 TTAGTACCTCGAAAATAACCA 0.284000 18 101 0 0 0.010504 0 0 TMEM44 93109 broad.mit.edu 37 3 194344010 194344010 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:194344010C>A ENST00000392432.2 - 5 760 c.555G>T c.(553-555)ctG>ctT p.L185L TMEM44_ENST00000473092.1_Silent_p.L185L|TMEM44_ENST00000347147.4_Silent_p.L185L|TMEM44_ENST00000381975.3_Silent_p.L185L|TMEM44_ENST00000330115.3_Silent_p.L82L|TMEM44_ENST00000273580.7_Silent_p.L185L NM_001166305.1 NP_001159777.1 Q2T9K0 TMM44_HUMAN transmembrane protein 44 185 integral to membrane breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1) 8 all_cancers(143;1.41e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;9.06e-06) CAACGCTACCCAGCAGGTAGC 0.572000 28 17 4.15321e-07 4.72388e-07 0.009535 1 0 OTOA 146183 broad.mit.edu 37 16 21696600 21696600 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:21696600T>A ENST00000388958.3 + 6 318 c.317T>A c.(316-318)cTg>cAg p.L106Q OTOA_ENST00000388956.4_Missense_Mutation_p.L27Q|OTOA_ENST00000286149.4_Missense_Mutation_p.L106Q NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 106 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) CCCCAGAAGCTGCTGGAGGAC 0.577000 28 32 0 0 0.006320 0 0 LILRB4 11006 broad.mit.edu 37 19 55177324 55177324 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:55177324C>A ENST00000391736.1 + 9 1131 c.816C>A c.(814-816)ctC>ctA p.L272L LILRB4_ENST00000391733.3_Silent_p.L272L|LILRB4_ENST00000430952.2_Silent_p.L272L|LILRB4_ENST00000270452.2_Silent_p.L272L|LILRB4_ENST00000391734.3_Silent_p.L272L NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 272 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) tcctgcttctctccctcctcc 0.557000 9 19 0.00621372 0.00638513 0.006214 1 0 MYH8 4626 broad.mit.edu 37 17 10310220 10310220 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:10310220G>A ENST00000403437.2 - 18 2136 c.2042C>T c.(2041-2043)aCc>aTc p.T681I CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 681 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 AGGAGTTTTGGTTTCATTGGG 0.388000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 8 65 0 0 0.004482 0 0 NR0B1 190 broad.mit.edu 37 X 30327199 30327199 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:30327199C>T ENST00000378970.4 - 1 516 c.282G>A c.(280-282)ccG>ccA p.P94P NR0B1_ENST00000453287.1_Silent_p.P94P NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 94 4 X 67 AA tandem repeats. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding p.P94P(1) central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) CGGGCGCCTTCGGTGCCGCGT 0.687000 16 18 0 0 0.004990 0 0 MOXD1 26002 broad.mit.edu 37 6 132722446 132722446 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:132722446G>T ENST00000367963.3 - 1 238 c.120C>A c.(118-120)ggC>ggA p.G40G MOXD1_ENST00000392401.3_Silent_p.G40G NM_015529.2 NP_056344.2 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 40 DOMON. catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity p.W41fs*59(1) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) GCTGGCTCCAGCCCAGCCAGT 0.736000 6 7 1.06961e-07 1.23736e-07 0.003080 1 0 ANKRD24 170961 broad.mit.edu 37 19 4216937 4216937 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:4216937G>T ENST00000600132.1 + 18 2056 c.1780G>T c.(1780-1782)Gcc>Tcc p.A594S ANKRD24_ENST00000262970.5_Missense_Mutation_p.A684S|ANKRD24_ENST00000318934.4_Missense_Mutation_p.A594S NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 594 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) GGCCACAGGAGCCAAGGTCAC 0.562000 3 11 0.004672 0.00481416 0.004672 1 0 DSCAML1 57453 broad.mit.edu 37 11 117299175 117299175 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:117299175G>A ENST00000321322.6 - 33 6212 c.6211C>T c.(6211-6213)Cca>Tca p.P2071S DSCAML1_ENST00000527706.1_Missense_Mutation_p.P1801S NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 2011 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) CCGGCTCGTGGAGGCTCGGTG 0.746000 7 6 0 0 0.003080 0 0 BMPER 168667 broad.mit.edu 37 7 34009964 34009964 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:34009964G>A ENST00000297161.2 + 6 800 c.426G>A c.(424-426)ggG>ggA p.G142G BMPER_ENST00000426693.1_Silent_p.G142G NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 142 VWFC 2. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 CAGAGTCTGGGGTGCGCTGTG 0.488000 44 77 0 0 0.014410 0 0 PROX1 5629 broad.mit.edu 37 1 214170119 214170119 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:214170119G>A ENST00000366958.4 + 2 849 c.241G>A c.(241-243)Gaa>Aaa p.E81K PROX1_ENST00000261454.4_Missense_Mutation_p.E81K|PROX1_ENST00000435016.1_Missense_Mutation_p.E81K|PROX1_ENST00000498508.2_Missense_Mutation_p.E81K NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 81 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) GAACTCGTATGAAGATGCCAT 0.478000 9 71 0 0 0.008291 0 0 MYH13 8735 broad.mit.edu 37 17 10206572 10206572 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:10206572C>A ENST00000418404.3 - 38 5771 c.5608G>T c.(5608-5610)Gac>Tac p.D1870Y MYH13_ENST00000570743.1_Missense_Mutation_p.D1870Y|MYH13_ENST00000252172.4_Missense_Mutation_p.D1870Y Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1870 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP 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 TCCACCAGGTCCTGGAGCCTA 0.582000 92 154 1.11883e-47 1.81596e-47 0.014410 1 0 GBF1 8729 broad.mit.edu 37 10 104120033 104120033 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:104120033G>A ENST00000369983.3 + 12 1530 c.1270G>A c.(1270-1272)Gag>Aag p.E424K GBF1_ENST00000476019.1_Intron NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 424 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CCATAACTCAGAGGTTATGAT 0.562000 183 89 0 0 0.014410 0 0 MAPK8IP2 23542 broad.mit.edu 37 22 51041671 51041671 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr22:51041671G>T ENST00000329492.3 + 3 308 c.191G>T c.(190-192)cGc>cTc p.R64L MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.R64L|MAPK8IP2_ENST00000399912.1_5'UTR|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.R37L|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.R64L|MAPK8IP2_ENST00000399908.2_5'UTR NM_012324.3 NP_036456.1 Q13387 JIP2_HUMAN mitogen-activated protein kinase 8 interacting protein 2 64 behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TCCCTGGGGCGCTCGGAGCAG 0.612000 16 14 2.32078e-09 2.81136e-09 0.003163 1 0 COL5A2 1290 broad.mit.edu 37 2 189918902 189918902 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:189918902C>A ENST00000374866.3 - 36 2702 c.2428G>T c.(2428-2430)Ggt>Tgt p.G810C NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 810 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCAGTAGGACCTGCCGGACCT 0.393000 55 71 3.63617e-18 5.08246e-18 0.014410 1 0 RELN 5649 broad.mit.edu 37 7 103389906 103389906 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:103389906G>T ENST00000428762.1 - 6 782 c.623C>A c.(622-624)tCc>tAc p.S208Y RELN_ENST00000343529.5_Missense_Mutation_p.S208Y|RELN_ENST00000424685.2_Missense_Mutation_p.S208Y NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 208 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TTGGTGGTAGGAGTCAAAGTC 0.343000 57 70 2.165e-29 3.35327e-29 0.014410 1 0 MSN 4478 broad.mit.edu 37 X 64957172 64957172 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:64957172G>T ENST00000360270.5 + 10 1395 c.1223G>T c.(1222-1224)cGg>cTg p.R408L MSN_ENST00000486030.1_3'UTR NM_002444.2 NP_002435.1 P26038 MOES_HUMAN moesin 408 leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 43 CAGGCCTCCCGGGACCAGAAA 0.542000 T ALK ALCL 5 13 1.23904e-05 1.35948e-05 0.000602 1 0 PKDREJ 10343 broad.mit.edu 37 22 46658330 46658330 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr22:46658330G>A ENST00000253255.5 - 1 889 c.890C>T c.(889-891)tCg>tTg p.S297L NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 297 REJ. 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) CCACTGTAACGAATTATTGGG 0.572000 125 132 0 0 0.014410 0 0 PDE10A 10846 broad.mit.edu 37 6 165752772 165752772 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:165752772C>A ENST00000366882.1 - 21 2297 c.2143G>T c.(2143-2145)Ggc>Tgc p.G715C PDE10A_ENST00000539869.2_Missense_Mutation_p.G725C|PDE10A_ENST00000354448.4_Missense_Mutation_p.G715C Q9Y233 PDE10_HUMAN phosphodiesterase 10A 715 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) CATACCTGGCCTTGGGGGACT 0.353000 23 92 5.35356e-11 6.7258e-11 0.002780 1 0 TNIP3 79931 broad.mit.edu 37 4 122075747 122075747 + Nonsense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:122075747C>A ENST00000454328.1 - 7 678 c.451G>T c.(451-453)Gaa>Taa p.E151* TNIP3_ENST00000057513.3_Nonsense_Mutation_p.E151*|TNIP3_ENST00000509841.1_Nonsense_Mutation_p.E228*|TNIP3_ENST00000507879.1_Nonsense_Mutation_p.E221* Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 151 NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 TGTTCCTTTTCCTTGTTCGCA 0.343000 19 14 4.96729e-08 5.79128e-08 0.008871 1 0 FARP1 10160 broad.mit.edu 37 13 99092244 99092244 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr13:99092244G>T ENST00000376586.2 + 23 2892 c.2556G>T c.(2554-2556)gtG>gtT p.V852V FARP1_ENST00000595437.1_Silent_p.V852V|FARP1_ENST00000319562.6_Silent_p.V821V Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 821 PH 1. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) AGTGGGGGGTGCCCCACTGCC 0.617000 157 65 1.46131e-73 2.40326e-73 0.014410 1 0 OR5J2 282775 broad.mit.edu 37 11 55944656 55944656 + Nonsense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:55944656C>A ENST00000312298.1 + 1 563 c.563C>A c.(562-564)tCa>tAa p.S188* NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 188 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) CTAAAGCTGTCATGTTCTGAC 0.438000 47 77 2.13384e-23 3.21154e-23 0.014410 1 0 GCOM1 145781 broad.mit.edu 37 15 57929944 57929944 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:57929944G>A ENST00000574161.1 + 9 1104 c.985G>A c.(985-987)Ggg>Agg p.G329R GCOM1_ENST00000380560.2_Missense_Mutation_p.G260R|MYZAP_ENST00000380565.4_Missense_Mutation_p.G329R|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380568.3_Missense_Mutation_p.G329R|GCOM1_ENST00000380569.2_Missense_Mutation_p.G329R|MYZAP_ENST00000267853.5_Missense_Mutation_p.G329R|GCOM1_ENST00000380561.2_Missense_Mutation_p.G298R|GCOM1_ENST00000396180.1_Missense_Mutation_p.G298R|GCOM1_ENST00000587652.1_Missense_Mutation_p.G329R|GCOM1_ENST00000572390.1_Missense_Mutation_p.G329R NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 329 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 AGAAATGTCTGGGGAGTTAAC 0.383000 6 9 0 0 0.001984 0 0 RAB12 201475 broad.mit.edu 37 18 8609872 8609872 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr18:8609872C>A ENST00000329286.6 + 1 430 c.147C>A c.(145-147)ggC>ggA p.G49G NM_001025300.2 NP_001020471.2 Q6IQ22 RAB12_HUMAN RAB12, member RAS oncogene family 49 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding p.G49G(1) breast(1)|lung(4)|prostate(1)|urinary_tract(1) 7 TCATTATCGGCTCCCGCGGCG 0.711000 5 29 0.00116845 0.00122777 0.001168 1 0 SUPT6H 6830 broad.mit.edu 37 17 27008409 27008409 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:27008409G>T ENST00000314616.6 + 12 1768 c.1485G>T c.(1483-1485)gaG>gaT p.E495D SUPT6H_ENST00000347486.4_Missense_Mutation_p.E495D NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 495 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TCAGGGAAGAGGGAGATGAAG 0.468000 24 41 6.12954e-19 8.64868e-19 0.004656 1 0 FBXO24 26261 broad.mit.edu 37 7 100192139 100192139 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:100192139C>A ENST00000241071.6 + 6 1249 c.927C>A c.(925-927)aaC>aaA p.N309K FBXO24_ENST00000427939.2_Missense_Mutation_p.N347K|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Missense_Mutation_p.N295K|FBXO24_ENST00000468962.1_Missense_Mutation_p.N297K|FBXO24_ENST00000465843.1_Missense_Mutation_p.N295K NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 309 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TGACTTCCAACCAGAGCAGCA 0.602000 18 22 5.01169e-05 5.39554e-05 0.004990 1 0 OPALIN 93377 broad.mit.edu 37 10 98105775 98105775 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:98105775C>T ENST00000419479.1 - 7 826 c.319G>A c.(319-321)Gac>Aac p.D107N OPALIN_ENST00000371172.3_Missense_Mutation_p.D117N|OPALIN_ENST00000393870.2_Missense_Mutation_p.D106N|OPALIN_ENST00000536387.1_Missense_Mutation_p.D107N|OPALIN_ENST00000393871.1_Missense_Mutation_p.D94N NM_001040103.1 NP_001035192.1 Q96PE5 OPALI_HUMAN oligodendrocytic myelin paranodal and inner loop protein 117 Golgi apparatus|integral to membrane|plasma membrane breast(1)|large_intestine(1)|lung(5)|prostate(2) 9 CGGTAACGGTCATGCACAGGT 0.507000 59 41 0 0 0.014410 0 0 ZNF878 729747 broad.mit.edu 37 19 12154763 12154763 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:12154763C>G ENST00000602107.1 - 5 1593 c.1594G>C c.(1594-1596)Ggg>Cgg p.G532R CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.G485R C9JN71 ZN878_HUMAN zinc finger protein 878 485 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AAGGCTTTCCCACACTGTTTA 0.383000 49 13 0 0 0.014410 0 0 AGAP3 116988 broad.mit.edu 37 7 150784095 150784095 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:150784095G>T ENST00000397238.2 + 1 267 c.267G>T c.(265-267)ctG>ctT p.L89L AGAP3_ENST00000473312.1_Silent_p.L89L|AGAP3_ENST00000479901.1_Silent_p.L89L|AGAP3_ENST00000463381.1_Intron NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 53 Small GTPase-like. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 TCTACGACCTGATCGAGCGCA 0.667000 7 12 1.76689e-08 2.09274e-08 0.006214 1 0 MAP3K19 80122 broad.mit.edu 37 2 135744037 135744037 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:135744037G>A ENST00000375845.3 - 7 2435 c.2405C>T c.(2404-2406)cCt>cTt p.P802L MAP3K19_ENST00000358371.4_Missense_Mutation_p.P689L|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.P819L|MAP3K19_ENST00000392918.3_Intron NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 TGAGACAGGAGGGAATTCATT 0.388000 54 56 0 0 0.014410 0 0 CACNA1G 8913 broad.mit.edu 37 17 48676874 48676874 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:48676874G>T ENST00000352832.5 + 16 3647 c.3275G>T c.(3274-3276)cGt>cTt p.R1092L CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1115L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1115L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1092L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1092L|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1092L|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1092L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1092L|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1092L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1115L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1092L|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1115L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1115L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1115L NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1115 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) AGCCTCGGCCGTGCACCCAGC 0.677000 10 9 4.68919e-08 5.48422e-08 0.008291 1 0 RIBC1 158787 broad.mit.edu 37 X 53455483 53455483 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:53455483C>G ENST00000457095.1 + 5 656 c.452C>G c.(451-453)aCa>aGa p.T151R RIBC1_ENST00000490702.1_3'UTR|RIBC1_ENST00000414955.2_Intron|RIBC1_ENST00000375327.3_Missense_Mutation_p.T151R NM_144968.2 NP_659405.1 Q8N443 RIBC1_HUMAN RIB43A domain with coiled-coils 1 151 lung(2) 2 GACAGGGACACACGGCTGAGA 0.507000 14 18 0 0 0.003163 0 0 SI 6476 broad.mit.edu 37 3 164737463 164737463 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:164737463A>T ENST00000264382.3 - 28 3412 c.3350T>A c.(3349-3351)gTg>gAg p.V1117E NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1117 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|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) TGTATGTTCCACTTCCCCAAA 0.438000 HNSCC(35;0.089) 19 76 0 0 0.007413 0 0 AKAP3 10566 broad.mit.edu 37 12 4747326 4747326 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:4747326C>T ENST00000545990.2 - 4 561 c.37G>A c.(37-39)Gga>Aga p.G13R AKAP3_ENST00000228850.1_Missense_Mutation_p.G13R NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 13 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding p.G13*(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 TTGCATACTCCATTTTGGCTT 0.408000 44 149 0 0 0.011902 0 0 KRT10 3858 broad.mit.edu 37 17 38975866 38975866 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:38975866C>G ENST00000269576.5 - 6 1285 c.1276G>C c.(1276-1278)Gag>Cag p.E426Q TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 426 Coil 2.|Gly-rich.|Rod. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) TTCTGGCACTCGGTTTCAGCT 0.483000 6 135 0 0 0.001984 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43846439 43846439 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:43846439G>C ENST00000389420.3 - 13 1819 c.1820C>G c.(1819-1821)aCt>aGt p.T607S ADAMTS20_ENST00000553158.1_Missense_Mutation_p.T607S NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 607 TSP type-1 1. 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) ACATGAATCAGTATTACATGA 0.403000 3 20 0 0 0.004672 0 0 STRN3 29966 broad.mit.edu 37 14 31405784 31405784 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:31405784C>A ENST00000355683.5 - 6 978 c.763G>T c.(763-765)Gat>Tat p.D255Y STRN3_ENST00000357479.5_Missense_Mutation_p.D255Y NM_014574.3 NP_055389.3 Q13033 STRN3_HUMAN striatin, calmodulin binding protein 3 255 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) TCACTGTCATCGGCATTTTCT 0.363000 58 17 2.37032e-18 3.31934e-18 0.014410 1 0 T 6862 broad.mit.edu 37 6 166581041 166581041 + Silent SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:166581041C>G ENST00000296946.2 - 2 507 c.39G>C c.(37-39)ctG>ctC p.L13L T_ENST00000366871.3_Silent_p.L13L NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 13 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) CTCGGTACTGCAGGCTCTTTC 0.697000 Chordoma, Familial Clustering of 5 8 0 0 0.000602 0 0 HDAC6 10013 broad.mit.edu 37 X 48678561 48678561 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:48678561G>T ENST00000334136.5 + 23 2414 c.2236G>T c.(2236-2238)Ggg>Tgg p.G746W HDAC6_ENST00000444343.2_Missense_Mutation_p.G760W|HDAC6_ENST00000376619.2_Missense_Mutation_p.G746W Q9UBN7 HDAC6_HUMAN histone deacetylase 6 746 Histone deacetylase 2. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) TGCTGCACGGGGGGATCCGCT 0.572000 15 74 1.15088e-07 1.31706e-07 0.004007 1 0 DIEXF 27042 broad.mit.edu 37 1 210006693 210006693 + Silent SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:210006693A>G ENST00000491415.2 + 4 609 c.552A>G c.(550-552)aaA>aaG p.K184K NM_014388.6 NP_055203.4 Q68CQ4 DIEXF_HUMAN digestive organ expansion factor homolog (zebrafish) 184 multicellular organismal development nucleus breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2) 53 CTTCTTTGAAAGCCTCTCAAG 0.398000 44 85 0 0 0.013114 0 0 ARPP21 10777 broad.mit.edu 37 3 35778754 35778754 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:35778754G>A ENST00000187397.4 + 16 2000 c.1544G>A c.(1543-1545)gGg>gAg p.G515E ARPP21_ENST00000417925.1_Missense_Mutation_p.G481E|ARPP21_ENST00000444190.1_Missense_Mutation_p.G461E|ARPP21_ENST00000458225.1_Missense_Mutation_p.G481E|ARPP21_ENST00000337271.5_Missense_Mutation_p.G461E NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 515 Gln-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 GCCATGGTGGGGCAGTCCCAA 0.627000 30 27 0 0 0.008361 0 0 ENTPD4 9583 broad.mit.edu 37 8 23243466 23243466 + Missense_Mutation SNP T T G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:23243466T>G ENST00000356206.6 - 13 1926 c.1691A>C c.(1690-1692)cAc>cCc p.H564P LOXL2_ENST00000389131.3_Intron Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 0 UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 25 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) acattgcaagtgtttggtggc 0.448000 35 92 0 0 0.003755 0 0 GAGE10 643832 broad.mit.edu 37 X 49173663 49173663 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:49173663G>C ENST00000407599.3 + 4 317 c.224G>C c.(223-225)aGc>aCc p.S75T NM_001098413.2 NP_001091883.2 A6NGK3 GAG10_HUMAN G antigen 10 75 p.S75I(1) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 Ovarian(276;0.236) GAAGCTGATAGCCAGGAACAG 0.423000 68 152 0 0 0.014410 0 0 PLCH1 23007 broad.mit.edu 37 3 155218533 155218533 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:155218533G>T ENST00000460012.1 - 14 2022 c.1665C>A c.(1663-1665)gaC>gaA p.D555E PLCH1_ENST00000494598.1_Missense_Mutation_p.D573E|PLCH1_ENST00000414191.1_Missense_Mutation_p.D555E|PLCH1_ENST00000340059.7_Missense_Mutation_p.D573E|PLCH1_ENST00000334686.6_Missense_Mutation_p.D555E|PLCH1_ENST00000447496.2_Missense_Mutation_p.D573E Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 573 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TCTGCTGTGTGTCTTCCTCAT 0.428000 14 129 1.5739e-10 1.95752e-10 0.004007 1 0 PRDM9 56979 broad.mit.edu 37 5 23522738 23522738 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:23522738A>G ENST00000296682.3 + 8 808 c.626A>G c.(625-627)cAg>cGg p.Q209R NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 209 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GAGATGTGTCAGAACTTCTTC 0.483000 HNSCC(3;0.000094) 20 15 0 0 0.008871 0 0 SPTB 6710 broad.mit.edu 37 14 65268548 65268548 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:65268548G>A ENST00000389722.3 - 5 624 c.571C>T c.(571-573)Cct>Tct p.P191S SPTB_ENST00000389720.3_Missense_Mutation_p.P191S|SPTB_ENST00000389721.5_Missense_Mutation_p.P191S|SPTB_ENST00000542895.1_Missense_Mutation_p.P191S|SPTB_ENST00000556626.1_Missense_Mutation_p.P191S NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 191 Actin-binding.|CH 2. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TTAACATGAGGGTAGCTGCAT 0.463000 OREG0022735 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 129 17 0 0 0.014410 0 0 SEMA5A 9037 broad.mit.edu 37 5 9202224 9202224 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:9202224C>A ENST00000382496.5 - 9 1440 c.775G>T c.(775-777)Ggt>Tgt p.G259C NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 259 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 AAGCGCCCACCAATATCGTTC 0.507000 30 59 4.02929e-09 4.84946e-09 0.010818 1 0 FASTKD3 79072 broad.mit.edu 37 5 7867502 7867502 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:7867502C>T ENST00000264669.5 - 2 831 c.695G>A c.(694-696)gGt>gAt p.G232D FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron NM_024091.3 NP_076996.2 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 232 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TGTCACACAACCTGAACTGTG 0.418000 22 74 0 0 0.010504 0 0 RYR2 6262 broad.mit.edu 37 1 237774236 237774236 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:237774236C>A ENST00000366574.2 + 36 5175 c.4858C>A c.(4858-4860)Cag>Aag p.Q1620K RYR2_ENST00000542537.1_Missense_Mutation_p.Q1604K|RYR2_ENST00000360064.6_Missense_Mutation_p.Q1618K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1620 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) CTGGTTGGTGCAGTGTTTGGA 0.502000 5 14 2.0095e-06 2.26486e-06 0.001984 1 0 ARMC3 219681 broad.mit.edu 37 10 23248003 23248003 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:23248003T>A ENST00000298032.5 + 5 381 c.297T>A c.(295-297)gaT>gaA p.D99E ARMC3_ENST00000409049.3_Missense_Mutation_p.D99E|ARMC3_ENST00000376528.4_5'UTR|ARMC3_ENST00000464017.1_3'UTR|ARMC3_ENST00000409983.3_Missense_Mutation_p.D99E NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 99 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TTGTAGATGATGTTAAAAAAT 0.373000 30 27 0 0 0.009535 0 0 PPM1A 5494 broad.mit.edu 37 14 60756619 60756619 + Nonsense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:60756619G>T ENST00000395076.4 + 4 1478 c.1048G>T c.(1048-1050)Gaa>Taa p.E350* PPM1A_ENST00000325642.3_Nonsense_Mutation_p.E423*|PPM1A_ENST00000529574.1_Nonsense_Mutation_p.E350* NM_021003.4 NP_066283.1 P35813 PPM1A_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1A 350 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.046) ACCAGGGGGTGAATTGGCAAG 0.438000 28 37 8.58068e-18 1.19265e-17 0.007291 1 0 OR52K2 119774 broad.mit.edu 37 11 4470788 4470788 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:4470788G>T ENST00000325719.4 + 1 264 c.219G>T c.(217-219)ctG>ctT p.L73L NM_001005172.2 NP_001005172.2 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, member 2 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) CCATCGACCTGGTCCTTTCCT 0.527000 74 107 4.12397e-46 6.66456e-46 0.014410 1 0 LRFN2 57497 broad.mit.edu 37 6 40399511 40399511 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:40399511G>A ENST00000338305.6 - 2 1884 c.1342C>T c.(1342-1344)Cgg>Tgg p.R448W NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 448 Fibronectin type-III. cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) ATCTTCACCCGGGGTGCTGAC 0.592000 11 37 0 0 0.013537 0 0 HTR3C 170572 broad.mit.edu 37 3 183776244 183776244 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:183776244G>A ENST00000318351.1 + 6 623 c.589G>A c.(589-591)Gag>Aag p.E197K NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 197 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CATGGACAAGGAGGTGTGGGA 0.582000 9 108 0 0 0.004482 0 0 LCT 3938 broad.mit.edu 37 2 136566979 136566979 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:136566979A>T ENST00000264162.2 - 8 2948 c.2938T>A c.(2938-2940)Tgg>Agg p.W980R NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 980 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) ATCCGAGACCAGGAGATAGAG 0.498000 40 50 0 0 0.008740 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43769237 43769237 + Silent SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:43769237A>G ENST00000389420.3 - 36 5390 c.5391T>C c.(5389-5391)gcT>gcC p.A1797A NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1797 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) CAGTGTATCCAGCAGCTAAGT 0.338000 15 57 0 0 0.002450 0 0 C11orf16 56673 broad.mit.edu 37 11 8947492 8947492 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:8947492G>A ENST00000326053.5 - 5 828 c.722C>T c.(721-723)cCt>cTt p.P241L C11orf16_ENST00000525780.1_Missense_Mutation_p.P241L NM_020643.2 NP_065694.2 Q9NQ32 CK016_HUMAN chromosome 11 open reading frame 16 241 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 22 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) AGAGCAGCAAGGGGCCCAGTG 0.612000 14 91 0 0 0.002450 0 0 CSMD2 114784 broad.mit.edu 37 1 34174731 34174731 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:34174731C>T ENST00000373381.4 - 22 3710 c.3534G>A c.(3532-3534)ctG>ctA p.L1178L CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.L51L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1138 CUB 7. 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) CCCTGGCTTTCAGCTGAATTC 0.443000 8 60 0 0 0.008291 0 0 WIZ 58525 broad.mit.edu 37 19 15537872 15537872 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:15537872C>A ENST00000389282.4 - 6 3786 c.3573G>T c.(3571-3573)ccG>ccT p.P1191P WIZ_ENST00000263381.6_Silent_p.P334P|WIZ_ENST00000599910.1_Silent_p.P508P|WIZ_ENST00000599686.2_Silent_p.P375P|WIZ_ENST00000545156.1_Silent_p.P505P O95785 WIZ_HUMAN widely interspaced zinc finger motifs 1191 nucleus zinc ion binding p.E331fs*9(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 GAAGGGCCCCCGGCAGCATCT 0.607000 75 22 5.02462e-34 7.93081e-34 0.014410 1 0 DPH1 1801 broad.mit.edu 37 17 1936719 1936719 + Translation_Start_Site SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:1936719C>A ENST00000570477.1 + 0 33 DPH1_ENST00000263083.6_Intron Q9BZG8 DPH1_HUMAN diphthamide biosynthesis 1 peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation cytoplasm|nucleus endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 17 accggcaggccctgaaaaggg 0.512000 22 29 0.000295444 0.000314886 0.014323 1 0 HUWE1 10075 broad.mit.edu 37 X 53658553 53658553 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:53658553G>C ENST00000342160.3 - 9 1116 c.659C>G c.(658-660)aCa>aGa p.T220R HUWE1_ENST00000218328.8_Missense_Mutation_p.T220R|HUWE1_ENST00000262854.6_Missense_Mutation_p.T220R Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 220 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 ATAATGTAGTGTGTTACTAGT 0.378000 18 63 0 0 0.010504 0 0 AP2A1 160 broad.mit.edu 37 19 50305113 50305113 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:50305113C>T ENST00000354293.5 + 14 2086 c.1920C>T c.(1918-1920)atC>atT p.I640I AP2A1_ENST00000359032.5_Silent_p.I640I NM_130787.2 NP_570603.2 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 subunit 640 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2) 19 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) GCAACGACATCAACGGGGGCA 0.716000 6 4 0 0 0.001168 0 0 GABRA5 2558 broad.mit.edu 37 15 27128609 27128609 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:27128609C>T ENST00000335625.5 + 6 1290 c.402C>T c.(400-402)ttC>ttT p.F134F GABRA5_ENST00000355395.5_Silent_p.F134F|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Silent_p.F134F NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 134 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CAGACACGTTCTTCCACAACG 0.577000 6 47 0 0 0.001168 0 0 BEST3 144453 broad.mit.edu 37 12 70087573 70087573 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:70087573C>A ENST00000330891.5 - 4 588 c.362G>T c.(361-363)gGg>gTg p.G121V BEST3_ENST00000266661.4_Missense_Mutation_p.G15V|BEST3_ENST00000331471.4_Missense_Mutation_p.G121V|BEST3_ENST00000393365.1_Missense_Mutation_p.G15V|BEST3_ENST00000553096.1_Missense_Mutation_p.G15V|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000551160.1_Missense_Mutation_p.G15V|BEST3_ENST00000476098.1_5'UTR NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 121 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) AAGCAGGCGCCCGTGCTCGTC 0.532000 15 30 1.52009e-12 1.98679e-12 0.003163 1 0 MXRA5 25878 broad.mit.edu 37 X 3235181 3235181 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:3235181T>A ENST00000217939.6 - 6 6695 c.6541A>T c.(6541-6543)Agg>Tgg p.R2181W NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2181 Ig-like C2-type 6. 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) GACGGCAGCCTCCAGAGGATG 0.652000 3 8 0 0 0.004672 0 0 TRIM36 55521 broad.mit.edu 37 5 114472790 114472790 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:114472790A>G ENST00000513154.1 - 7 1443 c.1117T>C c.(1117-1119)Ttt>Ctt p.F373L TRIM36_ENST00000514154.1_Missense_Mutation_p.F230L|TRIM36_ENST00000282369.3_Missense_Mutation_p.F385L Q9NQ86 TRI36_HUMAN tripartite motif containing 36 385 COS. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) GCAGGTCTAAAGCTCTTCAAA 0.333000 12 13 0 0 0.002450 0 0 NOS1 4842 broad.mit.edu 37 12 117685212 117685212 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:117685212C>T ENST00000317775.6 - 18 3449 c.2764G>A c.(2764-2766)Ggg>Agg p.G922R NOS1_ENST00000338101.4_Missense_Mutation_p.G956R|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 922 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) AGCTCATCCCCTTCCCTCATC 0.552000 54 61 0 0 0.014410 0 0 OTOGL 283310 broad.mit.edu 37 12 80655760 80655760 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:80655760G>T ENST00000458043.2 + 18 1880 c.1874G>T c.(1873-1875)gGc>gTc p.G625V OTOGL_ENST00000547103.1_Missense_Mutation_p.G625V NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TCTCCATCAGGCATGATAGAA 0.393000 9 45 3.07112e-06 3.44058e-06 0.010729 1 0 TBC1D2 55357 broad.mit.edu 37 9 101017708 101017708 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:101017708C>G ENST00000375066.5 - 1 207 c.116G>C c.(115-117)cGg>cCg p.R39P TBC1D2_ENST00000375064.1_Missense_Mutation_p.R39P|TBC1D2_ENST00000342112.5_5'UTR NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 39 Interaction with CADH1. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) CTCCAGGGACCGGGCGCAGTC 0.637000 14 30 0 0 0.002450 0 0 RAB39B 116442 broad.mit.edu 37 X 154493403 154493403 + Silent SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:154493403G>C ENST00000369454.3 - 1 471 c.171C>G c.(169-171)cgC>cgG p.R57R NM_171998.2 NP_741995.1 Q96DA2 RB39B_HUMAN RAB39B, member RAS oncogene family 57 R -> T (in Ref. 1; AAL12244). protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport Golgi apparatus|plasma membrane GTP binding breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12) 19 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GGAGCTTGATGCGTTTTCCTG 0.622000 34 24 0 0 0.003755 0 0 ZNF341 84905 broad.mit.edu 37 20 32378871 32378871 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:32378871C>T ENST00000375200.1 + 15 2478 c.2113C>T c.(2113-2115)Cac>Tac p.H705Y RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.H698Y Q9BYN7 ZN341_HUMAN zinc finger protein 341 705 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 TCAGCGCGCCCACACGGGCAA 0.612000 17 44 0 0 0.004007 0 0 OR2G3 81469 broad.mit.edu 37 1 247769784 247769784 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:247769784G>C ENST00000320002.2 + 1 929 c.897G>C c.(895-897)gaG>gaC p.E299D RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 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) ATATGAAAGAGGCTCTGAGGA 0.408000 39 76 0 0 0.009718 0 0 NR2F1 7025 broad.mit.edu 37 5 92923837 92923837 + Silent SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:92923837G>C ENST00000327111.3 + 2 2365 c.678G>C c.(676-678)ctG>ctC p.L226L NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 226 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) CCGCGCGCCTGCTCTTCAGCG 0.652000 40 28 0 0 0.009718 0 0 SLC26A9 115019 broad.mit.edu 37 1 205900999 205900999 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:205900999C>G ENST00000367135.3 - 5 654 c.541G>C c.(541-543)Gcc>Ccc p.A181P SLC26A9_ENST00000340781.4_Missense_Mutation_p.A181P|SLC26A9_ENST00000367134.2_Missense_Mutation_p.A181P NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 181 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) TGGATGATGGCGGTGAGGCAG 0.562000 21 31 0 0 0.010504 0 0 HTR3C 170572 broad.mit.edu 37 3 183776222 183776222 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:183776222C>A ENST00000318351.1 + 6 601 c.567C>A c.(565-567)agC>agA p.S189R NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 189 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CAGTGGACAGCATGCTGCTGG 0.567000 6 90 0.00198382 0.00207576 0.001984 1 0 OR2M7 391196 broad.mit.edu 37 1 248487047 248487047 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:248487047G>A ENST00000317965.2 - 1 852 c.824C>T c.(823-825)tCt>tTt p.S275F NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 275 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) GTAGAATACAGACACCATCTT 0.463000 43 64 0 0 0.007835 0 0 CTSG 1511 broad.mit.edu 37 14 25043923 25043923 + Silent SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:25043923T>C ENST00000216336.2 - 3 333 c.297A>G c.(295-297)caA>caG p.Q99Q NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 99 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) GCTGATTATATTGAGGGTGGC 0.537000 104 28 0 0 0.014410 0 0 DDX43 55510 broad.mit.edu 37 6 74116174 74116174 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:74116174C>A ENST00000370336.4 + 7 1053 c.895C>A c.(895-897)Cct>Act p.P299T DDX43_ENST00000539829.1_3'UTR NM_018665.2 NP_061135.2 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 299 Helicase ATP-binding. 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 TTATTTAATGCCTGGATTTAT 0.378000 23 20 9.57634e-11 1.19704e-10 0.003330 1 0 SHROOM2 357 broad.mit.edu 37 X 9862691 9862691 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:9862691G>T ENST00000380913.3 + 4 833 c.743G>T c.(742-744)gGt>gTt p.G248V NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 248 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) CCCAGGCAGGGTGGCCGGCAG 0.667000 3 13 2.56e-06 2.87662e-06 0.009096 1 0 TELO2 9894 broad.mit.edu 37 16 1552736 1552736 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:1552736G>T ENST00000262319.6 + 14 2023 c.1744G>T c.(1744-1746)Gcc>Tcc p.A582S TELO2_ENST00000564507.1_3'UTR NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 582 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) AGCCCTGGTGGCCGTCACGGT 0.672000 33 92 1.58521e-26 2.43501e-26 0.005524 1 0 ANK2 287 broad.mit.edu 37 4 114238907 114238907 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:114238907C>T ENST00000357077.4 + 25 2791 c.2738C>T c.(2737-2739)gCc>gTc p.A913V ANK2_ENST00000394537.3_Missense_Mutation_p.A913V|ANK2_ENST00000506722.1_Missense_Mutation_p.A892V|ANK2_ENST00000509550.1_Missense_Mutation_p.A122V|ANK2_ENST00000264366.6_Missense_Mutation_p.A913V NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 913 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) CTGAGCCATGCCTCCTACCTG 0.527000 26 18 0 0 0.009535 0 0 GMPS 8833 broad.mit.edu 37 3 155632262 155632262 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:155632262A>G ENST00000496455.1 + 8 1276 c.941A>G c.(940-942)gAt>gGt p.D314G GMPS_ENST00000295920.7_Missense_Mutation_p.D215G NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase 314 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCAATATCAGATGAAGATAGA 0.358000 T MLL AML 8 84 0 0 0.003080 0 0 RB1 5925 broad.mit.edu 37 13 48941688 48941688 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr13:48941688C>T ENST00000267163.4 + 10 1136 c.998C>T c.(997-999)gCa>gTa p.A333V NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 333 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(7) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GATCTAGATGCAAGATTATTT 0.284000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 48 29 0 0 0.014410 0 0 ZNF415 55786 broad.mit.edu 37 19 53612438 53612438 + Missense_Mutation SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:53612438A>G ENST00000455735.2 - 7 1324 c.1004T>C c.(1003-1005)cTt>cCt p.L335P ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.L57P|ZNF415_ENST00000243643.4_Missense_Mutation_p.L287P|ZNF415_ENST00000440291.1_Missense_Mutation_p.L274P|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.L299P|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000500065.4_Missense_Mutation_p.L287P|ZNF415_ENST00000448501.1_Missense_Mutation_p.L335P Q09FC8 ZN415_HUMAN zinc finger protein 415 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding p.L287H(1) breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) ATGTAGTGCAAGGCATGAGTT 0.413000 11 75 0 0 0.008291 0 0 BPIFC 254240 broad.mit.edu 37 22 32828502 32828502 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr22:32828502G>T ENST00000397452.1 - 11 1117 c.1007C>A c.(1006-1008)cCc>cAc p.P336H BPIFC_ENST00000300399.3_Missense_Mutation_p.P336H|BPIFC_ENST00000432451.2_Intron|BPIFC_ENST00000534972.1_Missense_Mutation_p.P60H Q8NFQ6 BPIL2_HUMAN BPI fold containing family C 336 extracellular region lipopolysaccharide binding|phospholipid binding CACCATGAAGGGCTGGGACAA 0.488000 33 66 4.4194e-11 5.58043e-11 0.013726 1 0 GCAT 23464 broad.mit.edu 37 22 38212669 38212669 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr22:38212669G>T ENST00000323205.6 + 9 1345 c.1282G>T c.(1282-1284)Gac>Tac p.D428Y GCAT_ENST00000248924.6_Missense_Mutation_p.D402Y NM_001171690.1 NP_001165161.1 O75600 KBL_HUMAN glycine C-acetyltransferase 402 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 12 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) GGAAGACATTGACCGCTGCGT 0.627000 43 60 7.53189e-24 1.13588e-23 0.007835 1 0 GRID2 2895 broad.mit.edu 37 4 94377028 94377028 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:94377028G>C ENST00000282020.4 + 11 2019 c.1761G>C c.(1759-1761)ttG>ttC p.L587F GRID2_ENST00000510992.1_Missense_Mutation_p.L492F NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 587 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TCTACCTCTTGAACTGGCTTA 0.453000 8 74 0 0 0.003080 0 0 FUT9 10690 broad.mit.edu 37 6 96651708 96651708 + Missense_Mutation SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:96651708T>A ENST00000302103.5 + 3 1003 c.677T>A c.(676-678)gTc>gAc p.V226D NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 226 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) GGAGAATATGTCAATGATAAA 0.353000 8 20 0 0 0.006214 0 0 NXPE4 54827 broad.mit.edu 37 11 114453199 114453199 + Missense_Mutation SNP T T G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:114453199T>G ENST00000375478.3 - 3 821 c.641A>C c.(640-642)cAa>cCa p.Q214P NXPE4_ENST00000424261.2_Intron NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 AGAGTGGACTTGGGAAGTGCC 0.512000 36 28 0 0 0.005524 0 0 LIMA1 51474 broad.mit.edu 37 12 50594642 50594642 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:50594642T>C ENST00000341247.4 - 7 1039 c.890A>G c.(889-891)gAa>gGa p.E297G LIMA1_ENST00000552909.1_Missense_Mutation_p.E137G|LIMA1_ENST00000552823.1_Missense_Mutation_p.E137G|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000547825.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.E297G|LIMA1_ENST00000552783.1_Missense_Mutation_p.E137G NM_001113546.1|NM_016357.4 NP_001107018.1|NP_057441.1 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 297 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2) 44 AATTTTGATTTCGCCACCACT 0.388000 110 123 0 0 0.014410 0 0 GPR112 139378 broad.mit.edu 37 X 135429618 135429618 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:135429618C>A ENST00000394143.1 + 6 4044 c.3753C>A c.(3751-3753)acC>acA p.T1251T GPR112_ENST00000412101.1_Silent_p.T1046T|GPR112_ENST00000287534.4_Silent_p.T1188T|GPR112_ENST00000394141.1_Silent_p.T1046T|GPR112_ENST00000370652.1_Silent_p.T1251T NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1251 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TGACTAGCACCTCTGTCTTAT 0.433000 16 123 0.00498961 0.00513433 0.004990 1 0 ESPL1 9700 broad.mit.edu 37 12 53684657 53684657 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:53684657G>T ENST00000257934.4 + 25 5488 c.5397G>T c.(5395-5397)ctG>ctT p.L1799L ESPL1_ENST00000552462.1_Silent_p.L1799L NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 1799 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 AGTCTGTGCTGGGCTGCTGGA 0.592000 8 11 1.06961e-07 1.23736e-07 0.003080 1 0 CHFR 55743 broad.mit.edu 37 12 133433063 133433063 + Nonsense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:133433063G>C ENST00000266880.7 - 11 1319 c.1256C>G c.(1255-1257)tCa>tGa p.S419* CHFR_ENST00000432561.2_Nonsense_Mutation_p.S419*|CHFR_ENST00000315585.7_Nonsense_Mutation_p.S378*|CHFR_ENST00000450056.2_Nonsense_Mutation_p.S407*|CHFR_ENST00000443047.2_Nonsense_Mutation_p.S327*|CHFR_ENST00000537522.1_Nonsense_Mutation_p.S41*|CHFR_ENST00000541837.2_5'UTR Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase 419 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) CCTAATGTCTGAGGACTCACT 0.537000 31 108 0 0 0.008361 0 0 TCN1 6947 broad.mit.edu 37 11 59626621 59626621 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:59626621C>G ENST00000257264.3 - 5 780 c.676G>C c.(676-678)Gaa>Caa p.E226Q TCN1_ENST00000532419.1_Intron NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 226 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGAATCTTTTCTACCAGTGAC 0.413000 56 105 0 0 0.014410 0 0 OR5W2 390148 broad.mit.edu 37 11 55681386 55681386 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:55681386C>T ENST00000344514.1 - 1 672 c.673G>A c.(673-675)Gtc>Atc p.V225I NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 ATCTCCAAGACTGATAGGATG 0.403000 20 45 0 0 0.012319 0 0 COL11A2 1302 broad.mit.edu 37 6 33146751 33146751 + Splice_Site SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:33146751C>A ENST00000341947.2 - 17 1839 c.e17-1 COL11A2_ENST00000361917.1_Splice_Site|COL11A2_ENST00000395197.1_Splice_Site|COL11A2_ENST00000357486.1_Splice_Site|COL11A2_ENST00000374712.1_Splice_Site|COL11A2_ENST00000374714.1_Splice_Site|COL11A2_ENST00000374713.1_Splice_Site|COL11A2_ENST00000374708.4_Splice_Site NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 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 CTGCCCGGCCCTGGGAGAACA 0.647000 16 11 0.00400662 0.00415151 0.004007 1 0 UCHL5 51377 broad.mit.edu 37 1 193028325 193028325 + Translation_Start_Site SNP A A C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:193028325A>C ENST00000530098.2 - 0 142 UCHL5_ENST00000367452.4_Intron|UCHL5_ENST00000367451.4_Missense_Mutation_p.I22M|UCHL5_ENST00000367455.3_Missense_Mutation_p.I22M|UCHL5_ENST00000367454.1_Missense_Mutation_p.I22M|UCHL5_ENST00000483156.1_5'UTR|UCHL5_ENST00000367449.1_Missense_Mutation_p.I22M|UCHL5_ENST00000367448.1_Missense_Mutation_p.I22M Q9Y5K5 UCHL5_HUMAN ubiquitin carboxyl-terminal hydrolase L5 DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytosol|Ino80 complex|proteasome complex endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1) 19 CGAATCCTTTAATGAGCTCGG 0.677000 14 7 0 0 0.002450 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92848626 92848626 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:92848626G>A ENST00000394468.2 - 2 295 c.218C>T c.(217-219)cCc>cTc p.P73L HEPACAM2_ENST00000341723.4_Missense_Mutation_p.P61L|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.P61L|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P96L NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 73 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 CATTGTGTGGGGTCTCTCAAA 0.498000 38 55 0 0 0.004878 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161618 90161618 + RNA SNP C C T rs13338202 by1000genomes TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:90161618C>T ENST00000567960.1 + 0 354 TUBB8P7_ENST00000564451.1_RNA p.D118D(2) CAGTGATGGACGTTGTCAGAA 0.607000 5 38 0 0 0.006214 0 0 ENOSF1 55556 broad.mit.edu 37 18 677394 677394 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr18:677394G>A ENST00000319815.6 - 6 1673 c.409C>T c.(409-411)Cac>Tac p.H137Y ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000340116.7_Missense_Mutation_p.H374Y|ENOSF1_ENST00000383578.3_Missense_Mutation_p.H285Y|ENOSF1_ENST00000580982.1_Missense_Mutation_p.H291Y|ENOSF1_ENST00000251101.7_Missense_Mutation_p.H367Y Q7L5Y1 ENOF1_HUMAN enolase superfamily member 1 367 cellular amino acid catabolic process mitochondrion isomerase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 10 ATAATCAGGTGCTGCACCAGT 0.433000 6 129 0 0 0.001984 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209620 140209620 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:140209620G>T ENST00000529310.1 + 1 2058 c.1944G>T c.(1942-1944)ctG>ctT p.L648L PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCGGCTGCTGGTGCTGGTGA 0.667000 37 16 3.6622e-26 5.61386e-26 0.003755 1 0 DLGAP2 9228 broad.mit.edu 37 8 1497720 1497720 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:1497720G>A ENST00000421627.2 + 2 995 c.861G>A c.(859-861)aaG>aaA p.K287K NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 366 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) AGTACCTGAAGCGCAGCTCCT 0.642000 11 40 0 0 0.010729 0 0 TRIM67 440730 broad.mit.edu 37 1 231335944 231335944 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:231335944C>T ENST00000444294.3 + 4 2172 c.1314C>T c.(1312-1314)acC>acT p.T438T TRIM67_ENST00000366652.2_Silent_p.T438T|TRIM67_ENST00000449018.3_Silent_p.T376T|TRIM67_ENST00000366653.5_Silent_p.T438T NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 438 cytoplasm|cytoskeleton zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) GTCAGTCCACCGGACTGATGG 0.522000 14 147 0 0 0.004990 0 0 SNRPB2 6629 broad.mit.edu 37 20 16719498 16719498 + Splice_Site SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:16719498G>A ENST00000246071.6 + 5 596 c.378_splice c.e5-1 p.G127_splice SNRPB2_ENST00000377943.5_Splice_Site_p.G127_splice NM_003092.4 NP_003083.1 P08579 RU2B_HUMAN small nuclear ribonucleoprotein polypeptide B 127 catalytic step 2 spliceosome|nucleoplasm|U2 snRNP nucleotide binding|protein binding|RNA binding large_intestine(2)|lung(2)|urinary_tract(1) 5 TTTGCTTAGGGAACTCCAAAT 0.299000 7 22 0 0 0.001984 0 0 AHNAK2 113146 broad.mit.edu 37 14 105419983 105419983 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:105419983C>A ENST00000333244.5 - 7 1924 c.1805G>T c.(1804-1806)aGa>aTa p.R602I AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 602 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGCTTTTTCTCTGCCTGTCTT 0.502000 49 546 6.03219e-31 9.44114e-31 0.014410 1 0 STEAP4 79689 broad.mit.edu 37 7 87910388 87910388 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:87910388G>A ENST00000380079.4 - 4 1092 c.991C>T c.(991-993)Ctc>Ttc p.L331F AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.L155F|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 331 Ferric oxidoreductase. fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) TCCTTCTTGAGTATTGCCTAA 0.368000 13 23 0 0 0.013537 0 0 PXDN 7837 broad.mit.edu 37 2 1668820 1668820 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:1668820G>C ENST00000252804.4 - 11 1368 c.1318C>G c.(1318-1320)Cag>Gag p.Q440E NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 440 Ig-like C2-type 3. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) ACTCTGTCCTGAGGCGTCACA 0.532000 9 8 0 0 0.010729 0 0 NEURL3 93082 broad.mit.edu 37 2 97165148 97165148 + RNA SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:97165148C>T ENST00000310865.3 - 0 790 neuralized E3 ubiquitin protein ligase 3 TTGCTGAGGTCCCATGGCATG 0.642000 21 69 0 0 0.012319 0 0 GPR139 124274 broad.mit.edu 37 16 20043241 20043241 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:20043241C>T ENST00000570682.1 - 2 1178 c.878G>A c.(877-879)cGc>cAc p.R293H NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 293 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 TGCCATGGTGCGGAACCGCTT 0.512000 51 98 0 0 0.014410 0 0 RELB 5971 broad.mit.edu 37 19 45540703 45540703 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:45540703C>A ENST00000221452.8 + 12 1545 c.1395C>A c.(1393-1395)gaC>gaA p.D465E RELB_ENST00000505236.1_Missense_Mutation_p.D462E|RELB_ENST00000540120.1_Missense_Mutation_p.D465E NM_006509.3 NP_006500.2 Q01201 RELB_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog B 465 nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1) 12 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00986) CAGACCCTGACTTCTTCTCTG 0.632000 41 193 5.44703e-19 7.7149e-19 0.009718 1 0 PPP1R3A 5506 broad.mit.edu 37 7 113518193 113518193 + Nonsense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:113518193G>T ENST00000284601.3 - 4 3022 c.2954C>A c.(2953-2955)tCa>tAa p.S985* NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 985 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TCTACTACCTGATGTCACTAT 0.368000 12 90 1.08611e-07 1.24676e-07 0.010729 1 0 ATP13A5 344905 broad.mit.edu 37 3 193042775 193042775 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:193042775C>A ENST00000342358.4 - 14 1669 c.1552G>T c.(1552-1554)Ggc>Tgc p.G518C NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 518 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) ACAGCCTGGCCTGAGGCAAAG 0.502000 36 284 2.42023e-17 3.33902e-17 0.003271 1 0 PTK7 5754 broad.mit.edu 37 6 43109969 43109969 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:43109969G>T ENST00000230419.4 + 13 2200 c.1979G>T c.(1978-1980)gGc>gTc p.G660V PTK7_ENST00000352931.2_Intron|PTK7_ENST00000345201.2_Missense_Mutation_p.G620V|PTK7_ENST00000481273.1_Missense_Mutation_p.G668V|PTK7_ENST00000349241.2_Missense_Mutation_p.G530V NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 660 Ig-like C2-type 7. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GAGGACTCAGGCCGCTACACC 0.607000 27 40 4.74835e-14 6.35103e-14 0.010818 1 0 NPAP1 23742 broad.mit.edu 37 15 24922301 24922301 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:24922301G>T ENST00000329468.2 + 1 1761 c.1287G>T c.(1285-1287)ttG>ttT p.L429F NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TCCCTGACTTGGCTGACCTGG 0.542000 32 56 2.08457e-15 2.83395e-15 0.010818 1 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532518 84532518 + RNA SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:84532518C>T ENST00000527857.1 + 0 2540 NR_026851.1 CCTGACAGTACGTTTGAGCAA 0.443000 34 17 0 0 0.005524 0 0 BAZ2B 29994 broad.mit.edu 37 2 160257124 160257124 + Nonsense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:160257124G>A ENST00000392783.2 - 17 3379 c.2884C>T c.(2884-2886)Cag>Tag p.Q962* BAZ2B_ENST00000355831.2_Nonsense_Mutation_p.Q928*|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000392782.1_Nonsense_Mutation_p.Q926*|BAZ2B_ENST00000343439.5_Nonsense_Mutation_p.Q862*|AC008277.1_ENST00000594921.1_RNA NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 962 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 AGAATTTGCTGAGCTCGAAGT 0.264000 11 26 0 0 0.010729 0 0 TTN 7273 broad.mit.edu 37 2 179401131 179401131 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:179401131C>G ENST00000589042.1 - 357 100567 c.100343G>C c.(100342-100344)cGa>cCa p.R33448P TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R24383P|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24508P|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24575P|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R30880P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R31807P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31807 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) GACAGTTTCTCGAATTTCTTC 0.388000 23 61 0 0 0.004656 0 0 CCL28 56477 broad.mit.edu 37 5 43382139 43382139 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:43382139G>T ENST00000537013.1 - 4 304 c.305C>A c.(304-306)gCa>gAa p.A102E CCL28_ENST00000361115.4_Silent_p.R69R|CCL28_ENST00000513525.1_Silent_p.R22R Q9NRJ3 CCL28_HUMAN chemokine (C-C motif) ligand 28 0 chemotaxis|immune response extracellular space chemokine activity kidney(3)|lung(3)|ovary(1) 7 AGATTCTTCTGCGCTTGACAT 0.398000 12 60 6.40141e-05 6.88175e-05 0.010729 1 0 GRIA1 2890 broad.mit.edu 37 5 153077675 153077675 + Silent SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:153077675A>T ENST00000285900.5 + 9 1549 c.1206A>T c.(1204-1206)tcA>tcT p.S402S GRIA1_ENST00000518142.1_Silent_p.S322S|GRIA1_ENST00000521843.2_Silent_p.S333S|GRIA1_ENST00000448073.4_Silent_p.S412S|GRIA1_ENST00000340592.5_Silent_p.S402S|GRIA1_ENST00000518783.1_Silent_p.S412S NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 402 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 alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding 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) GCGATAATTCAAGTGTTCAGA 0.458000 16 15 0 0 0.006122 0 0 C16orf93 90835 broad.mit.edu 37 16 30771764 30771764 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:30771764C>G ENST00000543610.1 - 4 1271 c.310G>C c.(310-312)Gag>Cag p.E104Q C16orf93_ENST00000545825.1_Missense_Mutation_p.E104Q|C16orf93_ENST00000541260.1_Missense_Mutation_p.E104Q|PHKG2_ENST00000563588.1_3'UTR NM_001014979.2 NP_001014979.2 A1A4V9 CP093_HUMAN chromosome 16 open reading frame 93 104 breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6) 11 TCCAGCAGCTCAGCCAGCACC 0.597000 33 40 0 0 0.010818 0 0 ZNF615 284370 broad.mit.edu 37 19 52496176 52496176 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:52496176G>A ENST00000602063.1 - 6 2502 c.2153C>T c.(2152-2154)gCg>gTg p.A718V ZNF615_ENST00000376716.5_Missense_Mutation_p.A718V|ZNF615_ENST00000594083.1_Missense_Mutation_p.A729V|ZNF615_ENST00000391795.3_Missense_Mutation_p.A723V|ZNF615_ENST00000598071.1_Missense_Mutation_p.A729V Q8N8J6 ZN615_HUMAN zinc finger protein 615 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) AGACAAGTGCGCAAAAGCTTT 0.438000 76 103 0 0 0.014410 0 0 PARD3 56288 broad.mit.edu 37 10 34671813 34671813 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:34671813T>C ENST00000374789.3 - 9 1379 c.1054A>G c.(1054-1056)Atc>Gtc p.I352V PARD3_ENST00000340077.5_Missense_Mutation_p.I352V|PARD3_ENST00000544292.1_Missense_Mutation_p.I82V|PARD3_ENST00000350537.4_Missense_Mutation_p.I352V|PARD3_ENST00000374773.1_Missense_Mutation_p.I352V|PARD3_ENST00000545693.1_Missense_Mutation_p.I352V|PARD3_ENST00000374776.1_Missense_Mutation_p.I352V|PARD3_ENST00000374788.3_Missense_Mutation_p.I352V|PARD3_ENST00000545260.1_Missense_Mutation_p.I308V|PARD3_ENST00000346874.4_Missense_Mutation_p.I352V|PARD3_ENST00000374790.3_Missense_Mutation_p.I308V|PARD3_ENST00000374794.3_Missense_Mutation_p.I308V NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 352 PDZ 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) AACCAAATGATGGGTGTACGC 0.398000 66 50 0 0 0.014410 0 0 SERPING1 710 broad.mit.edu 37 11 57379390 57379390 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:57379390C>A ENST00000403558.1 + 6 1725 c.1359C>A c.(1357-1359)ctC>ctA p.L453L SERPING1_ENST00000378323.4_Silent_p.L415L|SERPING1_ENST00000378324.2_Silent_p.L358L|SERPING1_ENST00000278407.4_Silent_p.L410L|SERPING1_ENST00000340687.6_Silent_p.L373L NM_001032295.1 NP_001027466.1 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 410 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 AGGATATGCTCTCAATCATGG 0.502000 28 49 3.70037e-05 4.00113e-05 0.009535 1 0 TAAR2 9287 broad.mit.edu 37 6 132938351 132938351 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:132938351C>T ENST00000275191.2 - 1 966 c.859G>A c.(859-861)Ggt>Agt p.G287S TAAR2_ENST00000367931.1_Missense_Mutation_p.G332S|TAAR2_ENST00000537809.1_Missense_Mutation_p.G287S NM_014626.3 NP_055441.2 Q9P1P5 TAAR2_HUMAN trace amine associated receptor 2 332 plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1) 23 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) AAAATTTTACCTAGCAAAATG 0.343000 23 20 0 0 0.002780 0 0 PPFIA2 8499 broad.mit.edu 37 12 82147793 82147793 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:82147793G>T ENST00000550584.2 - 2 503 c.208C>A c.(208-210)Cga>Aga p.R70R PPFIA2_ENST00000549325.1_Silent_p.R70R|PPFIA2_ENST00000552948.1_Silent_p.R70R|PPFIA2_ENST00000549396.1_Silent_p.R70R|PPFIA2_ENST00000548586.1_Silent_p.R70R|PPFIA2_ENST00000333447.7_Silent_p.R70R NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 329 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 AGTGAGTCTCGGTCATAGATG 0.468000 6 20 2.0095e-06 2.26486e-06 0.001984 1 0 ST18 9705 broad.mit.edu 37 8 53025853 53025853 + Missense_Mutation SNP T T G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:53025853T>G ENST00000276480.7 - 26 3732 c.3049A>C c.(3049-3051)Aca>Cca p.T1017P NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 1017 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TACATATCTGTGAGTGTATTT 0.433000 31 88 0 0 0.008361 0 0 TDO2 6999 broad.mit.edu 37 4 156831334 156831334 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:156831334C>A ENST00000536354.2 + 6 653 c.589C>A c.(589-591)Cag>Aag p.Q197K NM_005651.3 NP_005642.1 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 197 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) TAAATCTGAGCAGGAAAAGAC 0.328000 34 26 3.2961e-07 3.75473e-07 0.004878 1 0 C3orf20 84077 broad.mit.edu 37 3 14745912 14745912 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:14745912C>T ENST00000253697.3 + 7 1399 c.947C>T c.(946-948)gCa>gTa p.A316V C3orf20_ENST00000412910.1_Missense_Mutation_p.A194V|C3orf20_ENST00000435614.1_Missense_Mutation_p.A194V|C3orf20_ENST00000495387.1_3'UTR NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 316 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 AACTACAAGGCAAAGATGCCC 0.512000 46 26 0 0 0.013114 0 0 NIM1K 167359 broad.mit.edu 37 5 43280809 43280809 + Missense_Mutation SNP C C G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:43280809C>G ENST00000512796.1 + 4 2788 c.1289C>G c.(1288-1290)tCc>tGc p.S430C NIM1_ENST00000326035.2_Missense_Mutation_p.S430C Q8IY84 NIM1_HUMAN 430 ATP binding|magnesium ion binding|protein serine/threonine kinase activity AGACACACATCCAAATTTTGC 0.403000 25 33 0 0 0.008361 0 0 SCG3 29106 broad.mit.edu 37 15 51984366 51984366 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:51984366C>A ENST00000220478.3 + 7 1104 c.701C>A c.(700-702)gCa>gAa p.A234E SCG3_ENST00000542355.2_Missense_Mutation_p.A2E NM_013243.3 NP_037375.2 Q8WXD2 SCG3_HUMAN secretogranin III 234 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) ACTCCAATGGCAGCAATTCAA 0.378000 17 98 1.64113e-05 1.79273e-05 0.010504 1 0 GFRA3 2676 broad.mit.edu 37 5 137593402 137593402 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:137593402G>T ENST00000274721.3 - 4 957 c.711C>A c.(709-711)ccC>ccA p.P237P GFRA3_ENST00000378362.3_Silent_p.P206P NM_001496.3 NP_001487.2 O60609 GFRA3_HUMAN GDNF family receptor alpha 3 237 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GCGCGCAGTTGGGGGCGATGG 0.711000 16 6 3.52763e-06 3.92838e-06 0.004990 1 0 PAX1 5075 broad.mit.edu 37 20 21687098 21687098 + Silent SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:21687098C>T ENST00000398485.2 + 2 363 c.309C>T c.(307-309)aaC>aaT p.N103N PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Silent_p.N79N NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 103 Paired. regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 GCGAGGTGAACCAGCTGGGCG 0.662000 23 76 0 0 0.008361 0 0 PCDH11X 27328 broad.mit.edu 37 X 91133292 91133292 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:91133292G>T ENST00000373094.1 + 2 2898 c.2053G>T c.(2053-2055)Gtt>Ttt p.V685F PCDH11X_ENST00000504220.1_Missense_Mutation_p.V685F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V685F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V685F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V685F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V685F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V685F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V685F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V685F NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 685 Cadherin 7. homophilic cell adhesion integral to plasma membrane calcium ion binding p.V685L(3) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 TTATGAATTGGTTCTACCGTC 0.428000 73 54 8.87156e-34 1.39437e-33 0.014410 1 0 TNIP3 79931 broad.mit.edu 37 4 122075748 122075748 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:122075748C>A ENST00000454328.1 - 7 677 c.450G>T c.(448-450)aaG>aaT p.K150N TNIP3_ENST00000057513.3_Missense_Mutation_p.K150N|TNIP3_ENST00000509841.1_Missense_Mutation_p.K227N|TNIP3_ENST00000507879.1_Missense_Mutation_p.K220N Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 150 NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 GTTCCTTTTCCTTGTTCGCAA 0.348000 17 14 3.52763e-06 3.92838e-06 0.004990 1 0 MYH10 4628 broad.mit.edu 37 17 8451705 8451705 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:8451705G>A ENST00000360416.3 - 11 1223 c.1085C>T c.(1084-1086)tCa>tTa p.S362L MYH10_ENST00000379980.4_Missense_Mutation_p.S368L|MYH10_ENST00000269243.4_Missense_Mutation_p.S352L|MYH10_ENST00000396239.1_Missense_Mutation_p.S352L NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 352 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 CTGTAGCACTGAAGATACTAC 0.299000 52 49 0 0 0.014410 0 0 RGS17 26575 broad.mit.edu 37 6 153347653 153347653 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:153347653C>A ENST00000367225.2 - 2 169 c.145G>T c.(145-147)Ggg>Tgg p.G49W RGS17_ENST00000206262.1_Missense_Mutation_p.G49W Q9UGC6 RGS17_HUMAN regulator of G-protein signaling 17 49 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 14 Ovarian(120;0.126) OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429) GCATTTTCCCCTCTTTCTTCA 0.398000 23 89 1.75199e-13 2.31835e-13 0.007291 1 0 MUC17 140453 broad.mit.edu 37 7 100679156 100679156 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:100679156G>A ENST00000306151.4 + 3 4523 c.4459G>A c.(4459-4461)Gtc>Atc p.V1487I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1487 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) CAGTCCTGTGGTCACTTCTAC 0.468000 100 238 0 0 0.014410 0 0 CYP46A1 10858 broad.mit.edu 37 14 100157458 100157458 + Nonsense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:100157458G>T ENST00000261835.3 + 2 264 c.160G>T c.(160-162)Gag>Tag p.E54* CYP46A1_ENST00000423126.2_5'UTR NM_006668.1 NP_006659.1 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46, subfamily A, polypeptide 1 54 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1) 25 Melanoma(154;0.0866)|all_epithelial(191;0.179) GAAAAAGGATGAGGTTGGTGG 0.502000 76 115 3.64303e-30 5.67794e-30 0.014410 1 0 DNAH7 56171 broad.mit.edu 37 2 196825030 196825030 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:196825030T>C ENST00000312428.6 - 18 2945 c.2845A>G c.(2845-2847)Act>Gct p.T949A NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 949 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 CCTCGCATAGTTTGTGTTTTA 0.323000 11 157 0 0 0.010729 0 0 ACOT9 23597 broad.mit.edu 37 X 23723192 23723192 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:23723192G>A ENST00000379303.5 - 14 1153 c.1025C>T c.(1024-1026)tCt>tTt p.S342F ACOT9_ENST00000379295.1_Missense_Mutation_p.S273F|ACOT9_ENST00000336430.7_Missense_Mutation_p.S333F NM_001037171.1 NP_001032248.1 Q9Y305 ACOT9_HUMAN acyl-CoA thioesterase 9 333 acyl-CoA metabolic process mitochondrion acetyl-CoA hydrolase activity|carboxylesterase activity breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1) 15 AAACGGTCGAGAACCACTGTT 0.408000 46 68 0 0 0.014410 0 0 TINAG 27283 broad.mit.edu 37 6 54191661 54191661 + Missense_Mutation SNP C C T rs115438249 byFrequency TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:54191661C>T ENST00000259782.4 + 4 667 c.571C>T c.(571-573)Cgc>Tgc p.R191C TINAG_ENST00000370869.3_Missense_Mutation_p.R187C|TINAG_ENST00000370864.3_Missense_Mutation_p.R173C NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 191 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity p.R191C(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) TTTTAAATTTCGCCTTGGCAC 0.373000 26 38 0 0 0.008361 0 0 ZNF408 79797 broad.mit.edu 37 11 46726538 46726538 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:46726538G>C ENST00000311764.2 + 5 1518 c.1288G>C c.(1288-1290)Gta>Cta p.V430L NM_001184751.1|NM_024741.2 NP_001171680.1|NP_079017.1 Q9H9D4 ZN408_HUMAN zinc finger protein 408 430 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GCACCAGGTGGTACATTCAGG 0.647000 26 66 0 0 0.003330 0 0 SLC35A2 7355 broad.mit.edu 37 X 48762559 48762559 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:48762559G>A ENST00000376521.1 - 4 948 c.627C>T c.(625-627)tcC>tcT p.S209S SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000452555.2_Silent_p.S237S|SLC35A2_ENST00000247138.5_Silent_p.S209S|SLC35A2_ENST00000413561.2_Silent_p.S148S|SLC35A2_ENST00000376515.3_Intron NM_001042498.2 NP_001035963.1 P78381 S35A2_HUMAN solute carrier family 35 (UDP-galactose transporter), member A2 209 galactose metabolic process Golgi membrane|integral to membrane|nucleus sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2) 15 AGGAGAGACAGGAGGCCACGA 0.647000 9 7 0 0 0.004482 0 0 C17orf47 284083 broad.mit.edu 37 17 56620308 56620308 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:56620308G>T ENST00000321691.3 - 1 1421 c.1240C>A c.(1240-1242)Cct>Act p.P414T RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA NM_001038704.2 NP_001033793.2 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 414 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) GACCGAGGAGGCAAGGGCCTA 0.527000 22 79 3.08376e-08 3.62366e-08 0.003330 1 0 OR51B6 390058 broad.mit.edu 37 11 5373014 5373014 + Nonsense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:5373014G>T ENST00000380219.1 + 1 277 c.277G>T c.(277-279)Gga>Tga p.G93* HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron NM_001004750.1 NP_001004750.1 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, member 6 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GATTGGCCATGGAGCCTGCTT 0.483000 52 62 7.06795e-37 1.12273e-36 0.014410 1 0 NSUN5 55695 broad.mit.edu 37 7 72718297 72718297 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr7:72718297C>A ENST00000428206.1 - 7 763 c.750G>T c.(748-750)gcG>gcT p.A250A NSUN5_ENST00000438747.2_Silent_p.A288A|NSUN5_ENST00000310326.8_Silent_p.A288A|NSUN5_ENST00000252594.6_Silent_p.A288A NM_001168348.1 NP_001161820.1 Q96P11 NSUN5_HUMAN NOP2/Sun domain family, member 5 288 methyltransferase activity p.A288A(1) breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 Lung NSC(55;0.163) AGGGGGAGACCGCCAGGAAGT 0.632000 17 33 5.3912e-06 5.95912e-06 0.006122 1 0 CEACAM7 1087 broad.mit.edu 37 19 42187790 42187790 + Missense_Mutation SNP A A T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:42187790A>T ENST00000006724.3 - 3 833 c.632T>A c.(631-633)aTa>aAa p.I211K CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000401731.1_Missense_Mutation_p.I211K|CEACAM7_ENST00000338196.4_Intron NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 211 Ig-like C2-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) ATAGGGTCCTATGTCATTCTT 0.542000 93 131 0 0 0.014410 0 0 UPP2 151531 broad.mit.edu 37 2 158962720 158962720 + Missense_Mutation SNP G G C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:158962720G>C ENST00000605860.1 + 5 389 c.343G>C c.(343-345)Gat>Cat p.D115H UPP2_ENST00000005756.4_Missense_Mutation_p.D58H|UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000409859.4_Missense_Mutation_p.D115H O95045 UPP2_HUMAN uridine phosphorylase 2 58 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 AATGTTTGGAGATGTAAAGGT 0.328000 15 27 0 0 0.004990 0 0 OLFM1 10439 broad.mit.edu 37 9 137998625 137998625 + Missense_Mutation SNP C C A rs146984036 TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr9:137998625C>A ENST00000252854.4 + 5 840 c.653C>A c.(652-654)cCc>cAc p.P218H OLFM1_ENST00000371793.3_Missense_Mutation_p.P236H|OLFM1_ENST00000371796.3_Missense_Mutation_p.P209H NM_014279.4 NP_055094.1 Q99784 NOE1_HUMAN olfactomedin 1 236 nervous system development endoplasmic reticulum lumen protein binding p.P218L(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) ATCAGTGACCCCGTGACTGTC 0.637000 15 10 3.41278e-10 4.20252e-10 0.004990 1 0 LOXL3 84695 broad.mit.edu 37 2 74763195 74763195 + Silent SNP T T A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:74763195T>A ENST00000264094.3 - 7 1247 c.1176A>T c.(1174-1176)acA>acT p.T392T LOXL3_ENST00000393937.2_Silent_p.T247T|LOXL3_ENST00000409986.1_Silent_p.T247T|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Silent_p.T392T NM_032603.2 NP_115992.1 P58215 LOXL3_HUMAN lysyl oxidase-like 3 392 SRCR 3. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 AATCCTCAGCTGTGATGTTCT 0.567000 39 46 0 0 0.008740 0 0 PTGER4 5734 broad.mit.edu 37 5 40681505 40681505 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr5:40681505G>T ENST00000302472.3 + 2 1434 c.410G>T c.(409-411)gGc>gTc p.G137V PTGER4_ENST00000514343.1_3'UTR NM_000958.2 NP_000949.1 P35408 PE2R4_HUMAN prostaglandin E receptor 4 (subtype EP4) 137 G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CGATTGGCGGGCCTCACGCTC 0.597000 OREG0016588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 58 74 9.59835e-30 1.48974e-29 0.014410 1 0 RNF217-AS1 7955 broad.mit.edu 37 6 125231810 125231810 + RNA SNP A A G TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:125231810A>G ENST00000439075.1 - 0 2935 NR_026876.1 cagagatgagacaatgttctt 0.313000 5 8 0 0 0.000602 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32893986 32893986 + RNA SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr16:32893986G>A ENST00000330048.5 - 0 1271 NR_003083.2 GGCCACATGTGGCCCAGGGCA 0.567000 9 94 0 0 0.008291 0 0 DDIT4L 115265 broad.mit.edu 37 4 101111077 101111077 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:101111077C>A ENST00000273990.2 - 2 278 c.64G>T c.(64-66)Ggc>Tgc p.G22C RP11-15B17.1_ENST00000515026.1_RNA NM_145244.3 NP_660287.1 Q96D03 DDT4L_HUMAN DNA-damage-inducible transcript 4-like 22 negative regulation of signal transduction cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2) 12 OV - Ovarian serous cystadenocarcinoma(123;5.75e-09) GGGTGATAGCCACAGTCCAGC 0.592000 27 16 1.08312e-15 1.47788e-15 0.009535 1 0 LAMA2 3908 broad.mit.edu 37 6 129704301 129704301 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:129704301G>T ENST00000421865.2 + 35 5043 c.4994G>T c.(4993-4995)gGa>gTa p.G1665V NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1665 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GAGCAGACCGGACAGGATGCT 0.448000 10 17 0.000978159 0.00102928 0.010729 1 0 SIGLEC9 27180 broad.mit.edu 37 19 51633327 51633327 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:51633327C>A ENST00000250360.3 + 7 1450 c.1383C>A c.(1381-1383)atC>atA p.I461I SIGLEC9_ENST00000440804.3_Intron NM_014441.2 NP_055256.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 461 cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) AGATCAAGATCCACAGATGAG 0.542000 22 50 1.28384e-07 1.46696e-07 0.012319 1 0 PCSK9 255738 broad.mit.edu 37 1 55518372 55518372 + Missense_Mutation SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:55518372G>A ENST00000302118.5 + 5 997 c.707G>A c.(706-708)gGc>gAc p.G236D PCSK9_ENST00000452118.2_3'UTR|PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.G36D NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 236 Peptidase S8. cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 GTGGTCAGCGGCCGGGATGCC 0.637000 25 11 0 0 0.002780 0 0 RUNX1T1 862 broad.mit.edu 37 8 93003956 93003956 + Missense_Mutation SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:93003956C>T ENST00000523629.1 - 7 1356 c.902G>A c.(901-903)cGt>cAt p.R301H RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R301H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R264H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R274H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R312H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R264H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R264H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R274H NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 301 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) ATCATCCAAACGGTAATGCTG 0.552000 20 124 0 0 0.008871 0 0 SHF 90525 broad.mit.edu 37 15 45491299 45491299 + Splice_Site SNP C C T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:45491299C>T ENST00000318390.6 - 2 145 c.e2-1 RP11-519G16.2_ENST00000560034.1_RNA|CTD-2651B20.7_ENST00000568314.1_RNA|SHF_ENST00000290894.8_5'UTR B3KTY1 B3KTY1_HUMAN Src homology 2 domain containing F endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2) 12 all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06) AATGCCGCCTCTGTGGAGATT 0.597000 OREG0023105 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 8 0 0 0.004672 0 0 ULBP1 80329 broad.mit.edu 37 6 150290448 150290448 + Missense_Mutation SNP T T C TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:150290448T>C ENST00000229708.2 + 3 620 c.577T>C c.(577-579)Tgg>Cgg p.W193R ULBP1_ENST00000367345.1_Missense_Mutation_p.W193R NM_025218.2 NP_079494.1 Q9BZM6 N2DL1_HUMAN UL16 binding protein 1 193 MHC class I alpha-2 like. antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response anchored to membrane|endoplasmic reticulum|MHC class I protein complex MHC class I receptor activity large_intestine(3)|lung(5)|pancreas(1)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.14e-11) TTGTAAGATGTGGCTTGAAGA 0.448000 52 65 0 0 0.014410 0 0 CYP27A1 1593 broad.mit.edu 37 2 219677074 219677074 + Silent SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr2:219677074G>T ENST00000258415.4 + 3 1003 c.576G>T c.(574-576)ctG>ctT p.L192L NM_000784.3 NP_000775.1 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, polypeptide 1 192 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1) 26 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) TGGACCAGCTGCGGGCAGAGA 0.557000 11 173 1.08611e-07 1.24676e-07 0.010729 1 0 SLC28A2 9153 broad.mit.edu 37 15 45560574 45560574 + Nonsense_Mutation SNP C C T rs142426040 byFrequency TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr15:45560574C>T ENST00000347644.3 + 13 1431 c.1366C>T c.(1366-1368)Cag>Tag p.Q456* CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA NM_004212.3 NP_004203.2 O43868 S28A2_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 2 456 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) GCTCACTTTCCAGGTAAAGGA 0.493000 65 97 0 0 0.014410 0 0 ANO5 203859 broad.mit.edu 37 11 22242683 22242683 + Missense_Mutation SNP G G T TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:22242683G>T ENST00000324559.8 + 5 538 c.221G>T c.(220-222)cGa>cTa p.R74L NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 74 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ATCTTCTTCCGAGATGGGATT 0.353000 23 32 1.17739e-12 1.54158e-12 0.005443 1 0 ACACB 32 broad.mit.edu 37 12 109684049 109684049 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:109684049C>A ENST00000338432.7 + 39 5486 c.5367C>A c.(5365-5367)atC>atA p.I1789I ACACB_ENST00000377854.5_Silent_p.I1719I|ACACB_ENST00000543201.1_Silent_p.I455I|ACACB_ENST00000377848.3_Silent_p.I1789I O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1789 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GGGATGTGATCGTCATCGGCA 0.552000 39 33 1.57019e-19 2.25394e-19 0.007835 1 0 LOC101927209 101927209 broad.mit.edu 37 1 142713977 142713977 + RNA DEL T T - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:142713977delT ENST00000369381.2 - 0 628 ATCCATATACTAAAAAGGTTA 0.294 3 4 --- --- --- --- CNST 163882 broad.mit.edu 37 1 246784843 246784844 + Frame_Shift_Ins INS - - GC TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:246784843_246784844insGC ENST00000366513.4 + 3 761_762 c.492_493insGC c.(490-495)gacgccfs p.DA164fs CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Frame_Shift_Ins_p.DA164fs NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 164 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 AGCAGCCAGAGGCGCCAAAGCT 0.441 134 214 --- --- --- --- OR2T12 127064 broad.mit.edu 37 1 248458101 248458101 + Frame_Shift_Del DEL G G - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr1:248458101delG ENST00000317996.1 - 1 779 c.780delC c.(778-780)ccfs p.P260fs NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 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;0.0201) TGTGGGATTTGGGTCTCATAT 0.483 52 96 --- --- --- --- TFDP2 7029 broad.mit.edu 37 3 141682777 141682777 + Frame_Shift_Del DEL C C - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr3:141682777delC ENST00000499676.2 - 10 1252 c.581delG c.(580-582)aafs p.R194fs TFDP2_ENST00000310282.6_Frame_Shift_Del_p.R194fs|TFDP2_ENST00000495310.1_Frame_Shift_Del_p.R157fs|TFDP2_ENST00000467072.1_Frame_Shift_Del_p.R194fs|TFDP2_ENST00000489671.1_Frame_Shift_Del_p.R254fs|TFDP2_ENST00000486111.1_Frame_Shift_Del_p.R194fs|TFDP2_ENST00000397991.4_Frame_Shift_Del_p.R226fs|TFDP2_ENST00000479040.1_Frame_Shift_Del_p.R193fs|TFDP2_ENST00000477292.1_Frame_Shift_Del_p.R118fs|TFDP2_ENST00000317104.7_Frame_Shift_Del_p.R178fs NM_001178139.1 NP_001171610.1 Q14188 TFDP2_HUMAN transcription factor Dp-2 (E2F dimerization partner 2) 254 cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding kidney(1)|upper_aerodigestive_tract(2) 3 TTGTCGATTTCTCTGTACCAG 0.368 47 64 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187629115 187629116 + Frame_Shift_Del DEL CC CC - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr4:187629115_187629116delCC ENST00000441802.2 - 2 2075_2076 c.1866_1867delGG c.(1864-1869)ggtafs p.GV622fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 622 Cadherin 5. 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 AATGACAATACCCCCGAGTTGG 0.426 HNSCC(5;0.00058) 29 27 --- --- --- --- GPRC6A 222545 broad.mit.edu 37 6 117130668 117130668 + Frame_Shift_Del DEL A A - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:117130668delA ENST00000310357.3 - 2 328 c.307delT c.(307-309)gtfs p.C103fs GPRC6A_ENST00000530250.1_Frame_Shift_Del_p.C103fs|GPRC6A_ENST00000368549.3_Frame_Shift_Del_p.C103fs NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 103 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) ACTTCTGTACAAGTGTCATAG 0.408 13 34 --- --- --- --- RNF217-AS1 7955 broad.mit.edu 37 6 125231565 125231565 + RNA DEL A A - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr6:125231565delA ENST00000439075.1 - 0 3180 NR_026876.1 TTTTTAATCTAAAAAAAGTAC 0.279 4 8 --- --- --- --- ZFHX4 79776 broad.mit.edu 37 8 77767550 77767550 + Frame_Shift_Del DEL C C - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr8:77767550delC ENST00000521891.2 + 10 8841 c.8393delC c.(8392-8394)acfs p.T2798fs ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.T2753fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.T2772fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.T2753fs NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2753 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) CAAAATAAAACCGATTTTGAT 0.438 HNSCC(33;0.089) 24 21 --- --- --- --- NET1 10276 broad.mit.edu 37 10 5498668 5498668 + Frame_Shift_Del DEL C C - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr10:5498668delC ENST00000355029.4 + 12 1644 c.1502delC c.(1501-1503)gcfs p.A501fs NET1_ENST00000542715.1_Frame_Shift_Del_p.A320fs|NET1_ENST00000380359.3_Frame_Shift_Del_p.A447fs NM_001047160.1 NP_001040625.1 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming 1 501 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity p.F503fs*9(1)|p.F449fs*9(1) breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1) 23 GCGGCCATTGCCCCCTTCCAG 0.602 42 25 --- --- --- --- MRGPRX3 117195 broad.mit.edu 37 11 18158862 18158862 + Frame_Shift_Del DEL C C - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr11:18158862delC ENST00000396275.2 + 3 474 c.113delC c.(112-114)tcfs p.S38fs NM_054031.3 NP_473372.3 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 38 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 TGCATCGTTTCCCTTGTCGCG 0.592 78 164 --- --- --- --- RP11-114H23.1 0 broad.mit.edu 37 12 76082490 76082491 + RNA INS - - T rs141632958 TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr12:76082490_76082491insT ENST00000552856.1 - 0 401 cattctTTTTCTTTTTTTTTTT 0.361 2 4 --- --- --- --- MCF2L 23263 broad.mit.edu 37 13 113729415 113729415 + Frame_Shift_Del DEL G G - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr13:113729415delG ENST00000397030.1 + 11 1356 c.1319delG c.(1318-1320)cgfs p.R440fs MCF2L_ENST00000434480.2_Frame_Shift_Del_p.R413fs|MCF2L_ENST00000421756.1_Frame_Shift_Del_p.R411fs|MCF2L_ENST00000375608.3_Frame_Shift_Del_p.R437fs|MCF2L_ENST00000375601.3_Frame_Shift_Del_p.R411fs|MCF2L_ENST00000535094.2_Frame_Shift_Del_p.R407fs|MCF2L_ENST00000423482.2_Frame_Shift_Del_p.R405fs|MCF2L_ENST00000375604.2_Frame_Shift_Del_p.R464fs|MCF2L_ENST00000442652.2_Frame_Shift_Del_p.R437fs|MCF2L_ENST00000375597.4_Frame_Shift_Del_p.R405fs O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 437 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) CAGGAGCTCCGGCACCTCTGT 0.667 45 26 --- --- --- --- TRAV24 28659 broad.mit.edu 37 14 22573825 22573826 + RNA INS - - A rs33991650 by1000genomes TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:22573825_22573826insA ENST00000390453.1 + 0 55 GACTCTTTTTTAAAAAAACAGG 0.450 10 18 --- --- --- --- EFS 10278 broad.mit.edu 37 14 23826490 23826491 + Frame_Shift_Del DEL TC TC - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr14:23826490_23826491delTC ENST00000216733.3 - 6 2237_2238 c.1630_1631delGA c.(1630-1632)afs p.E544fs EFS_ENST00000429593.2_Frame_Shift_Del_p.E375fs|EFS_ENST00000351354.3_Frame_Shift_Del_p.E451fs NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 544 cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) CCCTGCCAGTTCTGTTACACAC 0.619 26 127 --- --- --- --- MYH4 4622 broad.mit.edu 37 17 10351938 10351938 + Frame_Shift_Del DEL G G - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr17:10351938delG ENST00000255381.2 - 32 4638 c.4528delC c.(4528-4530)aafs p.Q1511fs CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1511 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GACTCACGTTGTAAGTTCTTA 0.378 44 93 --- --- --- --- ZNF66 7617 broad.mit.edu 37 19 20988980 20988981 + Frame_Shift_Ins INS - - TT TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:20988980_20988981insTT ENST00000344519.8 + 4 597_598 c.574_575insTT c.(574-576)gaafs p.E192fs ZNF66_ENST00000425625.1_Frame_Shift_Ins_p.E238fs tactacacataagaaaattcat 0.361 11 60 --- --- --- --- DPY19L3 147991 broad.mit.edu 37 19 32954307 32954307 + Frame_Shift_Del DEL A A - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:32954307delA ENST00000342179.5 + 13 1573 c.1358delA c.(1357-1359)gafs p.E453fs DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000586987.1_Frame_Shift_Del_p.E453fs|DPY19L3_ENST00000392250.2_Frame_Shift_Del_p.E453fs NM_207325.2 NP_997208.2 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 (C. elegans) 453 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) GGTAAAATGGAAAAAGGCACA 0.333 46 60 --- --- --- --- SIGLEC14 100049587 broad.mit.edu 37 19 52149112 52149112 + Frame_Shift_Del DEL C C - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr19:52149112delC ENST00000360844.6 - 3 664 c.623delG c.(622-624)gcfs p.G208fs SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron NM_001098612.1 NP_001092082.1 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 208 Ig-like C2-type 1. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding p.G208A(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) GAGGTTGGTGCCATGGTCCTC 0.637 35 54 --- --- --- --- RAB22A 57403 broad.mit.edu 37 20 56929251 56929254 + Frame_Shift_Del DEL TATT TATT - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr20:56929251_56929254delTATT ENST00000244040.3 + 6 698_701 c.417_420delTATT c.(415-420)tcfs p.SI139fs NM_020673.2 NP_065724.1 Q9UL26 RB22A_HUMAN RAB22A, member RAS oncogene family 139 endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction early endosome|endosome membrane|plasma membrane GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1) 6 all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07) ACGCCGACTCTATTCATGCAATTT 0.402 16 27 --- --- --- --- DOPEY2 9980 broad.mit.edu 37 21 37586451 37586452 + Frame_Shift_Ins INS - - T rs147590869 byFrequency TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr21:37586451_37586452insT ENST00000399151.3 + 8 1062_1063 c.977_978insT c.(976-978)tttfs p.F326fs NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 326 endoplasmic reticulum organization|Golgi to endosome transport|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 CAGTCGTCTTATTTTTTTGAAA 0.396 13 99 --- --- --- --- KRTAP10-9 386676 broad.mit.edu 37 21 46047615 46047615 + Frame_Shift_Del DEL C C - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr21:46047615delC ENST00000397911.3 + 1 576 c.527delC c.(526-528)tcfs p.S176fs KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198690.2 NP_941963.2 P60411 KR109_HUMAN keratin associated protein 10-9 176 25 X 5 AA repeats of C-C-X(3). keratin filament endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 TGCACTTCCTCCCCCTGCCAG 0.587 97 251 --- --- --- --- MICAL3 57553 broad.mit.edu 37 22 18300912 18300912 + Frame_Shift_Del DEL G G - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chr22:18300912delG ENST00000441493.2 - 26 4867 c.4515delC c.(4513-4515)ccfs p.P1505fs NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1505 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) CCTCCTCTCTGGGGGGCTGAG 0.652 10 10 --- --- --- --- KLHL4 56062 broad.mit.edu 37 X 86890748 86890754 + Frame_Shift_Del DEL GCTCCAG GCTCCAG - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:86890748_86890754delGCTCCAG ENST00000373119.4 + 9 2043_2049 c.1898_1904delGCTCCAG c.(1897-1905)tgfs p.CSR633fs KLHL4_ENST00000373114.4_Frame_Shift_Del_p.CSR633fs NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 633 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 TCCAACCATTGCTCCAGGCTTTCTGAC 0.382 11 22 --- --- --- --- DCX 1641 broad.mit.edu 37 X 110653517 110653517 + Frame_Shift_Del DEL A A - TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f8ec337-85f7-4b01-a2b6-5db9a9e62f30 dd17d255-c853-4d2d-ad5e-cbec1719ca9d g.chrX:110653517delA ENST00000338081.3 - 2 524 c.353delT c.(352-354)tcfs p.F118fs DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Frame_Shift_Del_p.F37fs|DCX_ENST00000371993.2_Frame_Shift_Del_p.F37fs|DCX_ENST00000488120.1_Frame_Shift_Del_p.F37fs|DCX_ENST00000356220.3_Frame_Shift_Del_p.F37fs NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 118 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 GGTTCGGTAGAAGCTACAGTG 0.512 55 47 --- --- --- ---