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 FBLIM1 54751 broad.mit.edu 37 1 16093947 16093947 + Silent SNP G G A rs138682032 TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr1:16093947G>A uc001axd.1 + 4 770 c.327G>A c.(325-327)ccG>ccA p.P109P FBLIM1_uc001axe.1_Silent_p.P109P|FBLIM1_uc001axg.1_Silent_p.P109P|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron NM_017556 NP_060026 Q8WUP2 FBLI1_HUMAN Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA. 109 Pro-rich. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 16 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) CCCCTCCACCGCCCCCTCCAG 0.657 AKR7A3 22977 broad.mit.edu 37 1 19615062 19615062 + Missense_Mutation SNP C C G TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr1:19615062C>G uc001bbv.1 - 0 219 c.142G>C c.(142-144)Gtg>Ctg p.V48L NM_012067 NP_036199 O95154 ARK73_HUMAN Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA. 48 cellular aldehyde metabolic process cytosol aldo-keto reductase (NADP) activity|electron carrier activity NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2) 13 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTGTACACGAAGGCCGTG 0.711 LRIF1 55791 broad.mit.edu 37 1 111494470 111494470 + Nonsense_Mutation SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr1:111494470G>A uc001eaa.3 - 1 1292 c.1036C>T c.(1036-1038)Cga>Tga p.R346* LRIF1_uc001dzz.3_Intron|LRIF1_uc001eab.3_Intron NM_018372 NP_060842 Q5T3J3 LRIF1_HUMAN Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA. 346 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding p.R346Q(1) endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 TTTTTGGATCGCGTCCCACTA 0.353 HIPK1 204851 broad.mit.edu 37 1 114508833 114508833 + Missense_Mutation SNP G G T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr1:114508833G>T uc001eem.3 + 10 2481 c.2320G>T c.(2320-2322)Gtc>Ttc p.V774F HIPK1_uc001eel.3_Missense_Mutation_p.V774F|HIPK1_uc001een.3_Missense_Mutation_p.V774F|HIPK1_uc001eeo.3_Missense_Mutation_p.V400F|HIPK1_uc001eep.3_Missense_Mutation_p.V380F|HIPK1_uc001eeq.3_Missense_Mutation_p.V66F NM_198268 NP_938010 Q86Z02 HIPK1_HUMAN Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA. 774 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACACAACTCTGTCCAGCCCAC 0.542 HIPK1 204851 broad.mit.edu 37 1 114508840 114508840 + Missense_Mutation SNP C C A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr1:114508840C>A uc001eem.3 + 10 2488 c.2327C>A c.(2326-2328)cCc>cAc p.P776H HIPK1_uc001eel.3_Missense_Mutation_p.P776H|HIPK1_uc001een.3_Missense_Mutation_p.P776H|HIPK1_uc001eeo.3_Missense_Mutation_p.P402H|HIPK1_uc001eep.3_Missense_Mutation_p.P382H|HIPK1_uc001eeq.3_Missense_Mutation_p.P68H NM_198268 NP_938010 Q86Z02 HIPK1_HUMAN Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA. 776 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCTGTCCAGCCCACAGCAATG 0.552 GBA 2630 broad.mit.edu 37 1 155186783 155186783 + Missense_Mutation SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr1:155186783C>T uc001fjd.3 - 4 521 c.377G>A c.(376-378)cGt>cAt p.R126H GBA_uc001fjf.4_Missense_Mutation_p.R87H|GBA_uc001fje.4_Missense_Mutation_p.R48H|GBA_uc021pau.1_Missense_Mutation_p.R48H P04062 GLCM_HUMAN Homo sapiens glucosidase, beta, acid pseudogene 1 (GBAP1), non-coding RNA. 209 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) TGAAACGGGACGCTGGGCCAA 0.582 Gaucher disease type I SMG5 23381 broad.mit.edu 37 1 156235769 156235769 + Missense_Mutation SNP T T C rs151295845 byFrequency TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr1:156235769T>C uc001foc.4 - 11 1807 c.1658A>G c.(1657-1659)aAt>aGt p.N553S NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA. 553 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) CAGTGGGCCATTGAGGGAATC 0.607 CADM3 57863 broad.mit.edu 37 1 159162382 159162382 + Nonsense_Mutation SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr1:159162382C>T uc001ftl.2 + 2 423 c.244C>T c.(244-246)Cga>Tga p.R82* CADM3_uc009wsx.1_Nonsense_Mutation_p.R116*|CADM3_uc009wsy.1_Nonsense_Mutation_p.R82*|CADM3_uc001ftk.2_Nonsense_Mutation_p.R116* NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA. 82 Ig-like V-type. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) TCGAGATAATCGAATTCAGCT 0.512 PVRL4 81607 broad.mit.edu 37 1 161049728 161049728 + Missense_Mutation SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr1:161049728C>T uc001fxo.2 - 1 390 c.91G>A c.(91-93)Gcg>Acg p.A31T NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA. 31 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) AGCTCACCCGCGGGGCACCGG 0.627 XCL1 6375 broad.mit.edu 37 1 168550427 168550427 + Missense_Mutation SNP C C T rs141027416 TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr1:168550427C>T uc001gfo.2 + 2 479 c.314C>T c.(313-315)tCg>tTg p.S105L NM_002995 NP_002986 P47992 XCL1_HUMAN Homo sapiens chemokine (C motif) ligand 1 (XCL1), mRNA. 105 CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production extracellular space chemokine activity|protein homodimerization activity kidney(2)|lung(7)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.208) ACCCAGCAATCGACCAATACA 0.522 SELE 6401 broad.mit.edu 37 1 169697312 169697312 + Missense_Mutation SNP C C T rs139137736 TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr1:169697312C>T uc001ggm.4 - 7 1323 c.1166G>A c.(1165-1167)cGt>cAt p.R389H C1orf112_uc001ggj.3_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN Homo sapiens selectin E (SELE), mRNA. 389 Sushi 4. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) GGACCCATAACGGAAACTGCC 0.522 OR2M3 127062 broad.mit.edu 37 1 248367150 248367150 + Missense_Mutation SNP C C T rs147728074 byFrequency TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr1:248367150C>T uc010pzg.2 + 0 781 c.781C>T c.(781-783)Cgg>Tgg p.R261W NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA. 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R261W(2) endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 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) CATGTACATACGGCCCACATC 0.502 SLIT1 6585 broad.mit.edu 37 10 98808848 98808848 + Silent SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr10:98808848G>A uc001kmw.2 - 13 1581 c.1329C>T c.(1327-1329)tgC>tgT p.C443C SLIT1_uc009xvh.1_Silent_p.C453C NM_003061 NP_003052 O75093 SLIT1_HUMAN Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA. 443 LRRCT 2. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GGTTACAGTCGCAAATGAAAG 0.617 RBMXL2 27288 broad.mit.edu 37 11 7111073 7111073 + Missense_Mutation SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr11:7111073G>A uc001mfc.2 + 0 909 c.722G>A c.(721-723)cGc>cAc p.R241H NM_014469 NP_055284 O75526 HNRGT_HUMAN Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA. 241 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TACACCCACCGCGATTACGGC 0.662 ABCC8 6833 broad.mit.edu 37 11 17419338 17419338 + Missense_Mutation SNP T T C TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr11:17419338T>C uc001mnc.3 - 30 3886 c.3760A>G c.(3760-3762)Atc>Gtc p.I1254V NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 1254 ABC transmembrane type-1 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CATGCACCGATGTACTCCTGG 0.632 MS4A14 84689 broad.mit.edu 37 11 60183620 60183620 + Silent SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr11:60183620C>T uc001npj.3 + 4 1744 c.1179C>T c.(1177-1179)caC>caT p.H393H MS4A14_uc001npi.3_Silent_p.H281H|MS4A14_uc001npn.3_Silent_p.H131H|MS4A14_uc001npk.3_Silent_p.H376H|MS4A14_uc001npl.3_Silent_p.H131H|MS4A14_uc001npm.3_Silent_p.H131H NM_032597 NP_115986 Q96JA4 M4A14_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA. 393 integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 caccatcccacgccatgccac 0.448 LRP5 4041 broad.mit.edu 37 11 68177525 68177525 + Silent SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr11:68177525G>A uc001ont.3 + 9 2310 c.2235G>A c.(2233-2235)gcG>gcA p.A745A LRP5_uc009ysg.3_Silent_p.A155A NM_002335 NP_002326 O75197 LRP5_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA. 745 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 TCGAAGTGGCGCGGCTGGACG 0.617 CBL 867 broad.mit.edu 37 11 119148932 119148932 + Missense_Mutation SNP T T G TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr11:119148932T>G uc001pwe.3 + 7 1290 c.1152T>G c.(1150-1152)tgT>tgG p.C384W NM_005188 NP_005179 P22681 CBL_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA. 384 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.E366_Q409del(26)|p.C384R(8)|p.C384Y(5)|p.E366_K477del(2)|p.E369_D390del(2)|p.E369_Q409del(2)|p.?(1)|p.K322_D460del(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) GTAAAATATGTGCTGAAAATG 0.353 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies APOF 319 broad.mit.edu 37 12 56755294 56755294 + Missense_Mutation SNP C C A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr12:56755294C>A uc001sle.1 - 1 750 c.696G>T c.(694-696)atG>atT p.M232I NM_001638 NP_001629 Q13790 APOF_HUMAN Homo sapiens apolipoprotein F (APOF), mRNA. 232 cholesterol metabolic process high-density lipoprotein particle|low-density lipoprotein particle cholesterol binding|lipid transporter activity|receptor binding breast(1)|lung(3)|prostate(1)|stomach(1) 6 GCCCCCCTGACATCCCAGCCA 0.517 CAPS2 84698 broad.mit.edu 37 12 75678781 75678781 + Missense_Mutation SNP A A G TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr12:75678781A>G uc001sxl.3 - 14 1504 c.1475T>C c.(1474-1476)aTt>aCt p.I492T CAPS2_uc001sxm.3_Missense_Mutation_p.I279T|CAPS2_uc009zsa.2_Missense_Mutation_p.I101T|CAPS2_uc001sxi.4_Missense_Mutation_p.I247T|CAPS2_uc001sxj.4_Missense_Mutation_p.I422T|CAPS2_uc001sxk.4_Missense_Mutation_p.I511T NM_032606 NP_115995 Q9BXY5 CAYP2_HUMAN Homo sapiens calcyphosine 2 (CAPS2), mRNA. 511 EF-hand 2. calcium ion binding endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 10 CATTTCACCAATAATACCACG 0.313 TDG 6996 broad.mit.edu 37 12 104378553 104378553 + Missense_Mutation SNP T T A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr12:104378553T>A uc001tkg.3 + 7 1042 c.819T>A c.(817-819)agT>agA p.S273R TDG_uc009zuk.3_Missense_Mutation_p.S269R|TDG_uc010swi.2_Missense_Mutation_p.S130R|TDG_uc010swj.2_Missense_Mutation_p.S61R NM_003211 NP_003202 Q13569 TDG_HUMAN Homo sapiens thymine-DNA glycosylase (TDG), mRNA. 273 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity p.S273I(1) large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) CATCATCCAGTGCAAGATGTG 0.338 Base excision repair (BER), DNA glycosylases TMEM132D 121256 broad.mit.edu 37 12 129558525 129558525 + Silent SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr12:129558525G>A uc009zyl.1 - 8 3523 c.3195C>T c.(3193-3195)atC>atT p.I1065I TMEM132D_uc001uia.2_Silent_p.I603I NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 1065 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TACTCATCACGATGGAGTTCC 0.517 EFNB2 1948 broad.mit.edu 37 13 107187195 107187195 + Missense_Mutation SNP A A C TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr13:107187195A>C uc001vqi.3 - 0 194 c.118T>G c.(118-120)Tcc>Gcc p.S40A NM_004093 NP_004084 P52799 EFNB2_HUMAN Homo sapiens ephrin-B2 (EFNB2), mRNA. 40 cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development integral to plasma membrane ephrin receptor binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) ACTTACTTGGAGTTCGAGGAA 0.597 COL4A2 1284 broad.mit.edu 37 13 111134945 111134945 + Silent SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr13:111134945C>T uc001vqx.3 + 31 3130 c.2841C>T c.(2839-2841)ggC>ggT p.G947G NM_001846 NP_001837 P08572 CO4A2_HUMAN Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA. 947 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGAGCAAAGGCGAGGCTGGAT 0.527 KLHL28 54813 broad.mit.edu 37 14 45415013 45415013 + Missense_Mutation SNP C C A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr14:45415013C>A uc001wvq.3 - 1 365 c.119G>T c.(118-120)cGa>cTa p.R40L KLHL28_uc001wvr.3_Missense_Mutation_p.R40L|KLHL28_uc001wvt.4_Missense_Mutation_p.R40L NM_017658 NP_060128 Q9NXS3 KLH28_HUMAN Homo sapiens kelch-like 28 (Drosophila) (KLHL28), mRNA. 40 BTB. breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 ATCACCTACTCGAAGAATGAT 0.428 DLGAP5 9787 broad.mit.edu 37 14 55650334 55650334 + Missense_Mutation SNP C C G TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr14:55650334C>G uc001xbs.3 - 2 593 c.376G>C c.(376-378)Gat>Cat p.D126H DLGAP5_uc001xbt.3_Missense_Mutation_p.D126H NM_014750 NP_055565 Q15398 DLGP5_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA. 126 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 CAAGGCATATCAGGTCTATAA 0.323 KCNK10 54207 broad.mit.edu 37 14 88654322 88654322 + Missense_Mutation SNP T T C TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr14:88654322T>C uc001xwm.3 - 5 1122 c.1000A>G c.(1000-1002)Aca>Gca p.T334A KCNK10_uc001xwn.3_Missense_Mutation_p.T334A|KCNK10_uc001xwo.3_Missense_Mutation_p.T329A NM_138318 NP_612191 P57789 KCNKA_HUMAN Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA. 329 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 TCTTCTTTTGTCTTTTTGGAC 0.493 C15orf52 388115 broad.mit.edu 37 15 40629935 40629935 + Missense_Mutation SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr15:40629935C>T uc001zlh.4 - 5 821 c.805G>A c.(805-807)Gcc>Acc p.A269T C15orf52_uc001zli.1_Missense_Mutation_p.A201T|C15orf52_uc010ucn.2_Missense_Mutation_p.A59T NM_207380 NP_997263 Q6ZUT6 CO052_HUMAN Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA. 269 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) GTGGACTTGGCCTTGTCCAGG 0.701 CYP11A1 1583 broad.mit.edu 37 15 74636252 74636252 + Missense_Mutation SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr15:74636252G>A uc002axt.2 - 3 862 c.707C>T c.(706-708)gCc>gTc p.A236V CYP11A1_uc002axs.2_Missense_Mutation_p.A78V|CYP11A1_uc010bjm.1_Missense_Mutation_p.A78V|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjp.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_Missense_Mutation_p.A16V NM_000781 NP_001093243 P05108 CP11A_HUMAN Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 236 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) CTGGTAGATGGCATCAATGAA 0.572 HAPLN3 145864 broad.mit.edu 37 15 89421300 89421300 + Silent SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr15:89421300C>T uc002bnd.3 - 5 1251 c.1170G>A c.(1168-1170)ccG>ccA p.P390P HAPLN3_uc002bnc.3_Silent_p.P328P|HAPLN3_uc002bne.3_Non-coding_Transcript NM_178232 NP_839946 Q96S86 HPLN3_HUMAN Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA. 328 cell adhesion proteinaceous extracellular matrix hyaluronic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 17 Lung NSC(78;0.0392)|all_lung(78;0.077) AGTTAGGATGCGGGTGAACCA 0.642 CASKIN1 57524 broad.mit.edu 37 16 2231462 2231462 + Missense_Mutation SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr16:2231462G>A uc010bsg.1 - 17 1939 c.1907C>T c.(1906-1908)cCg>cTg p.P636L NM_020764 NP_065815 Q8WXD9 CSKI1_HUMAN Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA. 636 signal transduction cytoplasm breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3) 28 GGGCTCAGGCGGGGGCGGCGA 0.657 DNAH3 55567 broad.mit.edu 37 16 21080807 21080807 + Missense_Mutation SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr16:21080807C>T uc010vbe.2 - 22 3310 c.3310G>A c.(3310-3312)Gcc>Acc p.A1104T NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 1104 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GGCATCTGGGCTATGATGTCC 0.428 ITGAX 3687 broad.mit.edu 37 16 31382999 31382999 + Missense_Mutation SNP G G A rs146647978 byFrequency TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr16:31382999G>A uc002ebt.3 + 16 2121 c.2054G>A c.(2053-2055)cGc>cAc p.R685H ITGAX_uc002ebu.1_Missense_Mutation_p.R685H NM_000887 NP_000878 P20702 ITAX_HUMAN Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA. 685 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity p.R685H(4)|p.R685C(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 GACCCTGGCCGCCTGAGTCCC 0.607 PDP2 57546 broad.mit.edu 37 16 66918530 66918530 + Missense_Mutation SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr16:66918530G>A uc021tjw.1 + 0 343 c.343G>A c.(343-345)Gct>Act p.A115T PDP2_uc002eqk.2_Missense_Mutation_p.A115T NM_020786 NP_065837 Q9P2J9 PDP2_HUMAN Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA. 115 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) CAACCAGCTGGCTGCCAATTC 0.522 NF1 4763 broad.mit.edu 37 17 29541476 29541476 + Frame_Shift_Del DEL C C - TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr17:29541476delC uc002hgg.3 + 12 1783 c.1400delC c.(1399-1401)acafs p.T467fs NF1_uc002hge.2_Frame_Shift_Del_p.T467fs|NF1_uc002hgf.2_Frame_Shift_Del_p.T467fs|NF1_uc002hgh.3_Frame_Shift_Del_p.T467fs|NF1_uc010csn.2_Frame_Shift_Del_p.T327fs NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 467 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(5) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TAGAGTCTTACATTTAAAGAA 0.289 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) NF1 4763 broad.mit.edu 37 17 29652976 29652979 + Frame_Shift_Del DEL TCTC TCTC - TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr17:29652976_29652979delTCTC uc002hgg.3 + 36 5357_5360 c.4974_4977delTCTC c.(4972-4977)tttctcfs p.F1658fs NF1_uc002hgh.3_Frame_Shift_Del_p.F1637fs|NF1_uc002hgi.1_Frame_Shift_Del_p.F670fs|NF1_uc010cso.3_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 1658 CRAL-TRIO. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3)|p.S1660fs*37(2) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AAACAGACTTTCTCTCTAAGTGGT 0.422 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) KRTAP4-7 100132476 broad.mit.edu 37 17 39240729 39240729 + Missense_Mutation SNP A A G rs148949542 by1000genomes TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr17:39240729A>G uc010wfn.2 + 0 271 c.271A>G c.(271-273)Atg>Gtg p.M91V NM_033061 NP_149050 Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA. NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 cagctgctgtatgtccagctg 0.677 KRTAP4-11 653240 broad.mit.edu 37 17 39274150 39274150 + Missense_Mutation SNP T T A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr17:39274150T>A uc002hvz.3 - 0 457 c.418A>T c.(418-420)Agc>Tgc p.S140C NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA. 140 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.S140C(4)|p.C139F(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ctggagatgctgcagctgggg 0.672 RNF43 54894 broad.mit.edu 37 17 56435337 56435337 + Missense_Mutation SNP T T G TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr17:56435337T>G uc002iwf.3 - 7 3756 c.1800A>C c.(1798-1800)agA>agC p.R600S RNF43_uc010wnv.2_Missense_Mutation_p.R559S|RNF43_uc002iwh.4_Missense_Mutation_p.R600S|RNF43_uc002iwg.4_Missense_Mutation_p.R600S|RNF43_uc010dcw.3_Missense_Mutation_p.R473S NM_017763 NP_060233 Q68DV7 RNF43_HUMAN Homo sapiens ring finger protein 43 (RNF43), mRNA. 600 Pro-rich. R -> G (in Ref. 1; BAD51435 and 2; BAA91085). endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGAGTTGGATCTGGTGACTT 0.657 RGS9 8787 broad.mit.edu 37 17 63173876 63173876 + Silent SNP C C T rs61739619 TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr17:63173876C>T uc002jfe.3 + 8 812 c.609C>T c.(607-609)taC>taT p.Y203Y RGS9_uc021ubw.1_Silent_p.Y203Y|RGS9_uc010dem.3_Silent_p.Y203Y|RGS9_uc002jfd.3_Silent_p.Y203Y NM_003835 NP_003826 O75916 RGS9_HUMAN Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA. 203 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 TGCTGGACTACGGCCTGGACC 0.488 CDH7 1005 broad.mit.edu 37 18 63489429 63489429 + Silent SNP A A G TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr18:63489429A>G uc002lkb.3 + 4 1164 c.738A>G c.(736-738)acA>acG p.T246T CDH7_uc002ljz.3_Silent_p.T246T|CDH7_uc002lka.3_Silent_p.T246T NM_004361 NP_387450 Q9ULB5 CADH7_HUMAN Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA. 246 Cadherin 2. 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) CAGGAACTACATCAGTCACTG 0.433 ZNF407 55628 broad.mit.edu 37 18 72775604 72775604 + Missense_Mutation SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr18:72775604C>T uc002llw.2 + 7 5980 c.5927C>T c.(5926-5928)tCg>tTg p.S1976L NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA. 1976 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) TTAAACCTCTCGGAGGCTGGA 0.617 ZNF77 58492 broad.mit.edu 37 19 2933851 2933851 + Missense_Mutation SNP A A G TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr19:2933851A>G uc002lws.4 - 3 1405 c.1274T>C c.(1273-1275)aTc>aCc p.I425T NM_021217 NP_067040 Q15935 ZNF77_HUMAN Homo sapiens zinc finger protein 77 (ZNF77), mRNA. 425 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1) 17 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCACGTGGATTCGAAGGGA 0.502 MAG 4099 broad.mit.edu 37 19 35804318 35804318 + Silent SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr19:35804318G>A uc002nyy.2 + 10 2040 c.1842G>A c.(1840-1842)acG>acA p.T614T MAG_uc002nyx.2_3'UTR|MAG_uc010eds.2_Silent_p.T589T|MAG_uc002nyz.2_Silent_p.T614T NM_002361 NP_001186145 P20916 MAG_HUMAN Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA. 614 T -> S (in Ref. 2). blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) ACACGCTGACGGAGGAGCTAG 0.657 IL4I1 259307 broad.mit.edu 37 19 50392981 50392981 + Silent SNP T T G TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr19:50392981T>G uc002pqv.2 - 10 2506 c.1677A>C c.(1675-1677)ccA>ccC p.P559P IL4I1_uc002pqt.1_Silent_p.P550P|IL4I1_uc021uxy.1_Silent_p.P572P|IL4I1_uc002pqu.2_Silent_p.P572P|IL4I1_uc010eno.2_Silent_p.P558P NM_152899 NP_690863 Q96RQ9 OXLA_HUMAN Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA. 550 lysosome L-amino-acid oxidase activity endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169) GGCCTTGGACTGGAGGGTGGC 0.602 ADD2 119 broad.mit.edu 37 2 70901894 70901894 + Missense_Mutation SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr2:70901894C>T uc021vjc.1 - 13 1922 c.1657G>A c.(1657-1659)Gtg>Atg p.V553M ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.V553M|ADD2_uc002sgz.3_Missense_Mutation_p.V553M|ADD2_uc010fdt.2_Missense_Mutation_p.V553M NM_001185054 NP_001608 P35612 ADDB_HUMAN Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA. 553 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 GGGTTGGGCACCGTCTCCTCT 0.507 TTN 7273 broad.mit.edu 37 2 179446906 179446906 + Missense_Mutation SNP T T C TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr2:179446906T>C uc021vsy.1 - 263 58711 c.58486A>G c.(58486-58488)Att>Gtt p.I19496V MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I13191V|TTN_uc021vta.1_Missense_Mutation_p.I13124V|TTN_uc021vtb.1_Missense_Mutation_p.I12999V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 20423 Fibronectin type-III 41. 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) ATGTTGCTAATAACAGGAGGA 0.418 PLCB1 23236 broad.mit.edu 37 20 8628555 8628559 + Frame_Shift_Del DEL AACTT AACTT - TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr20:8628555_8628559delAACTT uc002wnb.3 + 5 476_480 c.473_477delAACTT c.(472-477)aaacttfs p.K158fs PLCB1_uc010zrb.1_Frame_Shift_Del_p.K57fs|PLCB1_uc010gbv.1_Frame_Shift_Del_p.K158fs|PLCB1_uc002wmz.1_Frame_Shift_Del_p.K158fs|PLCB1_uc002wna.3_Frame_Shift_Del_p.K158fs|PLCB1_uc002wnc.1_Frame_Shift_Del_p.K57fs NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA. 158 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 AGCTATACTAAACTTAAGCTGCAAG 0.332 SSTR4 6754 broad.mit.edu 37 20 23016341 23016341 + Missense_Mutation SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr20:23016341G>A uc002wsr.2 + 0 285 c.221G>A c.(220-222)cGc>cAc p.R74H NM_001052 NP_001043 P31391 SSR4_HUMAN Homo sapiens somatostatin receptor 4 (SSTR4), mRNA. 74 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) GTGATCCTTCGCTACGCCAAG 0.642 EIF2S2 8894 broad.mit.edu 37 20 32677582 32677582 + Missense_Mutation SNP T T C TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr20:32677582T>C uc002xaf.3 - 8 1125 c.956A>G c.(955-957)cAg>cGg p.Q319R NM_003908 NP_003899 P20042 IF2B_HUMAN Homo sapiens eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa (EIF2S2), mRNA. 319 cytosol|eukaryotic translation initiation factor 2 complex metal ion binding|protein binding|translation initiation factor activity p.F318L(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 11 CGTGACAGCCTGGAAGCCGGT 0.483 SLC12A5 57468 broad.mit.edu 37 20 44673744 44673744 + Missense_Mutation SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr20:44673744G>A uc010zxl.1 + 11 1679 c.1603G>A c.(1603-1605)Gcc>Acc p.A535T SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.A512T NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA. 535 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CCTGCTGCAGGCCATCTCGAG 0.632 TUBB1 81027 broad.mit.edu 37 20 57599544 57599544 + Silent SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr20:57599544C>T uc002yak.3 + 3 1331 c.1062C>T c.(1060-1062)tgC>tgT p.C354C NM_030773 NP_110400 Q9H4B7 TBB1_HUMAN Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA. 354 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2) 16 all_lung(29;0.00711) Colorectal(105;0.109) Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309) TGGCTGTCTGCGACATCCCGC 0.567 DGCR8 54487 broad.mit.edu 37 22 20074008 20074008 + Missense_Mutation SNP A A G TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr22:20074008A>G uc002zri.3 + 1 951 c.522A>G c.(520-522)atA>atG p.I174M DGCR8_uc010grz.3_Missense_Mutation_p.I174M|DGCR8_uc002zrj.3_5'Flank NM_022720 NP_073557 Q8WYQ5 DGCR8_HUMAN Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA. 174 Necessary for interaction with NCL.|Necessary for nuclear localization and retention. I -> V (in dbSNP:rs35987994). primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) GGGTAGGCATAGGGGGTGAGA 0.552 LZTR1 8216 broad.mit.edu 37 22 21340179 21340179 + Missense_Mutation SNP T T C TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr22:21340179T>C uc002zto.3 + 2 416 c.313T>C c.(313-315)Tgg>Cgg p.W105R LZTR1_uc002ztn.3_Missense_Mutation_p.W64R|LZTR1_uc011ahy.2_Intron|LZTR1_uc010gsr.1_5'Flank NM_006767 NP_006758 Q8N653 LZTR1_HUMAN Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA. 105 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity p.W105L(1) breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) AGACTGCTCCTGGTGCAGGTG 0.582 OR5H2 79310 broad.mit.edu 37 3 98002586 98002586 + Silent SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr3:98002586C>T uc003dsj.1 + 0 855 c.855C>T c.(853-855)atC>atT p.I285I NM_001005482 NP_001005482 Q8NGV7 OR5H2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA. 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 TTTATACAATCATAATTCCTT 0.328 HCLS1 3059 broad.mit.edu 37 3 121350755 121350755 + Missense_Mutation SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr3:121350755G>A uc003eeh.4 - 13 1524 c.1399C>T c.(1399-1401)Cgg>Tgg p.R467W HCLS1_uc011bjj.2_Missense_Mutation_p.R430W NM_005335 NP_005326 P14317 HCLS1_HUMAN Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA. 467 SH3. 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) CAACGTCCCCGCCACCAGCCC 0.507 GOLGB1 2804 broad.mit.edu 37 3 121413146 121413146 + Missense_Mutation SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr3:121413146C>T uc010hrc.3 - 12 6350 c.6224G>A c.(6223-6225)cGc>cAc p.R2075H GOLGB1_uc003eei.4_Missense_Mutation_p.R2070H|GOLGB1_uc003eej.4_Missense_Mutation_p.R2036H|GOLGB1_uc021xcy.1_Missense_Mutation_p.R1995H|GOLGB1_uc011bjm.1_Missense_Mutation_p.R1956H|GOLGB1_uc010hrd.1_Missense_Mutation_p.R2034H NM_004487 NP_004478 Q14789 GOGB1_HUMAN Homo sapiens golgin B1 (GOLGB1), mRNA. 2070 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TGCCTTTTTGCGGTGTTCAAC 0.403 ABTB1 80325 broad.mit.edu 37 3 127396603 127396603 + Missense_Mutation SNP G G T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr3:127396603G>T uc003ejt.3 + 9 1034 c.946G>T c.(946-948)Ggc>Tgc p.G316C ABTB1_uc003ejr.3_Missense_Mutation_p.G174C|ABTB1_uc003ejs.3_Missense_Mutation_p.G291C|ABTB1_uc003eju.3_Missense_Mutation_p.G174C|ABTB1_uc010hsm.3_Missense_Mutation_p.G43C NM_172027 NP_742024 Q969K4 ABTB1_HUMAN Homo sapiens ankyrin repeat and BTB (POZ) domain containing 1 (ABTB1), transcript variant 2, mRNA. 316 BTB 2. cytoplasm|nucleolus|plasma membrane translation elongation factor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 10 GACCTCAGGGGGCCCCCCAGC 0.642 EPHB1 2047 broad.mit.edu 37 3 134967277 134967277 + Silent SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr3:134967277G>A uc003eqt.3 + 13 2991 c.2616G>A c.(2614-2616)gcG>gcA p.A872A EPHB1_uc003equ.3_Silent_p.A433A NM_004441 NP_004432 P54762 EPHB1_HUMAN Homo sapiens EPH receptor B1 (EPHB1), mRNA. 872 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding p.A872G(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CCCGGTTTGCGGAGATTGTCA 0.582 ZIC4 84107 broad.mit.edu 37 3 147108751 147108751 + Missense_Mutation SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr3:147108751G>A uc011bno.2 - 3 1307 c.1121C>T c.(1120-1122)gCg>gTg p.A374V ZIC4_uc021xfc.1_Non-coding_Transcript|ZIC4_uc021xfd.1_Non-coding_Transcript|ZIC4_uc021xfe.1_Non-coding_Transcript|ZIC4_uc003ewc.2_Missense_Mutation_p.A254V|ZIC4_uc021xff.1_Missense_Mutation_p.A362V|ZIC4_uc003ewd.2_Missense_Mutation_p.A324V|ZIC4_uc021xfg.1_Missense_Mutation_p.A118V NM_001168378 NP_115529 Q8N9L1 ZIC4_HUMAN Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA. 324 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 CGCCGCCACCGCCGCCGAGGA 0.706 GAK 2580 broad.mit.edu 37 4 864620 864620 + Silent SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr4:864620C>T uc003gbm.4 - 18 2326 c.2127G>A c.(2125-2127)gtG>gtA p.V709V GAK_uc003gbn.4_Silent_p.V630V|GAK_uc010ibk.1_Silent_p.V603V|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Silent_p.V573V NM_005255 NP_005246 O14976 GAK_HUMAN Homo sapiens cyclin G associated kinase (GAK), mRNA. 709 C2 tensin-type. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) CCCTGGGCTCCACCTCCACTT 0.557 ATP8A1 10396 broad.mit.edu 37 4 42505527 42505527 + Missense_Mutation SNP G G C TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr4:42505527G>C uc003gwr.2 - 23 2323 c.2091C>G c.(2089-2091)caC>caG p.H697Q ATP8A1_uc003gwq.2_5'UTR|ATP8A1_uc003gws.2_Missense_Mutation_p.H682Q NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA. 697 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) GTTTGCAGGAGTGTCCTGTAT 0.274 SLC4A4 8671 broad.mit.edu 37 4 72316924 72316924 + Missense_Mutation SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr4:72316924G>A uc010iic.3 + 10 1345 c.1228G>A c.(1228-1230)Gga>Aga p.G410R SLC4A4_uc003hfy.3_Missense_Mutation_p.G410R|SLC4A4_uc010iib.3_Missense_Mutation_p.G410R|SLC4A4_uc003hfz.3_Missense_Mutation_p.G410R|SLC4A4_uc003hgc.4_Missense_Mutation_p.G366R|SLC4A4_uc010iid.3_5'UTR|SLC4A4_uc003hga.2_Missense_Mutation_p.G288R|SLC4A4_uc003hgb.3_Missense_Mutation_p.G366R NM_001134742 NP_001128214 Q9Y6R1 S4A4_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA. 410 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) GTACTCAGGTGGAGAGAATGT 0.443 PPEF2 5470 broad.mit.edu 37 4 76797562 76797562 + Missense_Mutation SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr4:76797562G>A uc003hix.3 - 10 1555 c.1198C>T c.(1198-1200)Cgg>Tgg p.R400W PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.R400W NM_006239 NP_006230 O14830 PPE2_HUMAN Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA. 400 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TGCCGGCACCGCTCTAGCTCC 0.667 SHROOM3 57619 broad.mit.edu 37 4 77661370 77661370 + Missense_Mutation SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr4:77661370C>T uc011cbx.2 + 4 2997 c.2044C>T c.(2044-2046)Cgg>Tgg p.R682W SHROOM3_uc011cbz.1_Missense_Mutation_p.R506W|SHROOM3_uc003hkf.1_Missense_Mutation_p.R557W|SHROOM3_uc003hkg.3_Missense_Mutation_p.R460W NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 682 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GGAGCTAGGCCGGGGAACCCA 0.607 FAM190A 401145 broad.mit.edu 37 4 91321221 91321221 + Missense_Mutation SNP A A G TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr4:91321221A>G uc003hsv.4 + 3 1884 c.1544A>G c.(1543-1545)gAt>gGt p.D515G FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.D515G NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA. 515 NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 TGTGAACTGGATGAAGATGAT 0.333 CTNND2 1501 broad.mit.edu 37 5 11565132 11565132 + Missense_Mutation SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr5:11565132C>T uc003jfa.1 - 2 356 c.211G>A c.(211-213)Gct>Act p.A71T CTNND2_uc010itt.2_5'UTR|CTNND2_uc011cmy.1_5'UTR|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 71 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TGCCGTTCAGCCTCCAGCTCT 0.502 PIK3R1 5295 broad.mit.edu 37 5 67591125 67591125 + Missense_Mutation SNP T T C TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr5:67591125T>C uc003jva.3 + 12 2298 c.1718T>C c.(1717-1719)cTg>cCg p.L573P PIK3R1_uc003jvc.3_Missense_Mutation_p.L273P|PIK3R1_uc003jvd.3_Missense_Mutation_p.L303P|PIK3R1_uc003jve.3_Missense_Mutation_p.L252P|PIK3R1_uc021xzn.1_Missense_Mutation_p.L210P|PIK3R1_uc011crb.2_Missense_Mutation_p.L243P NM_181523 NP_852664 P27986 P85A_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA. 573 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.L573P(4)|p.L570_D578del(2)|p.L303P(2)|p.L273P(2)|p.0?(1)|p.?(1)|p.L570_Q572del(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CTTATCCAGCTGAGAAAGACG 0.383 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) PRR16 51334 broad.mit.edu 37 5 120021968 120021968 + Missense_Mutation SNP C C A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr5:120021968C>A uc003ksq.3 + 1 642 c.479C>A c.(478-480)cCa>cAa p.P160Q PRR16_uc003ksp.3_Missense_Mutation_p.P137Q|PRR16_uc003ksr.3_Missense_Mutation_p.P90Q NM_016644 NP_057728 Q569H4 PRR16_HUMAN Homo sapiens proline rich 16 (PRR16), mRNA. 160 Pro-rich. p.P137Q(1) endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) GGAGGCTTACCAGGTGGACCT 0.468 SGCD 6444 broad.mit.edu 37 5 156186311 156186311 + Silent SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr5:156186311C>T uc003lwc.4 + 8 1302 c.783C>T c.(781-783)ttC>ttT p.F261F SGCD_uc003lwd.4_Silent_p.F260F NM_000337 NP_001121681 Q92629 SGCD_HUMAN Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA. 260 E -> K (in LGMD2F). cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma p.F261L(2) 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) AGAAGGTCTTCGAGATCTGCG 0.488 ADAMTS2 9509 broad.mit.edu 37 5 178552111 178552111 + Missense_Mutation SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr5:178552111G>A uc003mjw.3 - 18 2923 c.2821C>T c.(2821-2823)Cgc>Tgc p.R941C NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 941 TSP type-1 3. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R941H(1) 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) TGAATGCAGCGCACGGAGCGC 0.692 GMDS 2762 broad.mit.edu 37 6 1930436 1930436 + Silent SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr6:1930436G>A uc003mtq.3 - 6 884 c.672C>T c.(670-672)agC>agT p.S224S GMDS_uc021ykn.1_Silent_p.S194S NM_001500 NP_001491 O60547 GMDS_HUMAN Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA. 224 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) CTACTGACCGGCTAATTTTTC 0.428 ZSCAN23 222696 broad.mit.edu 37 6 28402496 28402496 + Missense_Mutation SNP G G C TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr6:28402496G>C uc003nli.4 - 3 1097 c.916C>G c.(916-918)Cag>Gag p.Q306E ZSCAN23_uc003nlh.2_Non-coding_Transcript|ZSCAN23_uc010jrf.1_Non-coding_Transcript|ZSCAN23_uc011dli.2_3'UTR NM_001012455 NP_001012458 Q3MJ62 ZSC23_HUMAN Homo sapiens zinc finger and SCAN domain containing 23 (ZSCAN23), mRNA. 306 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|prostate(1)|stomach(2) 4 ACACTGCACTGGTAGCGCTTC 0.542 PPP1R10 5514 broad.mit.edu 37 6 30570090 30570090 + Missense_Mutation SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr6:30570090C>T uc003nqn.1 - 18 2888 c.2336G>A c.(2335-2337)aGt>aAt p.S779N PPP1R10_uc010jsc.1_Missense_Mutation_p.S433N NM_002714 NP_002705 Q96QC0 PP1RA_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA. 779 Gly-rich. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 GCGATGCCCACTTCCCATGCC 0.672 PNISR 25957 broad.mit.edu 37 6 99856145 99856145 + Missense_Mutation SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr6:99856145C>T uc003ppo.4 - 6 904 c.676G>A c.(676-678)Gca>Aca p.A226T PNISR_uc003ppp.4_Missense_Mutation_p.A226T|PNISR_uc011eag.2_Missense_Mutation_p.A226T|PNISR_uc003ppr.2_Missense_Mutation_p.A226T NM_032870 NP_116259 Q8TF01 PNISR_HUMAN Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA. 226 nuclear speck breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 CGTTTTACTGCGTCTGTTTCA 0.358 ATG5 9474 broad.mit.edu 37 6 106764059 106764059 + Nonsense_Mutation SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr6:106764059G>A uc003prf.3 - 1 378 c.25C>T c.(25-27)Cga>Tga p.R9* ATG5_uc010kdb.3_Nonsense_Mutation_p.R9*|ATG5_uc003prg.3_5'UTR|ATG5_uc010kdc.3_Nonsense_Mutation_p.R9* NM_004849 NP_004840 Q9H1Y0 ATG5_HUMAN Homo sapiens ATG5 autophagy related 5 homolog (S. cerevisiae) (ATG5), mRNA. 9 apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification autophagic vacuole|pre-autophagosomal structure membrane protein binding endometrium(1)|large_intestine(5)|lung(1)|prostate(1) 8 Breast(9;0.0296) all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216) BRCA - Breast invasive adenocarcinoma(8;0.00802) OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18) CACACATCTCGAAGCACATCT 0.368 TXLNB 167838 broad.mit.edu 37 6 139564240 139564240 + Missense_Mutation SNP A A T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr6:139564240A>T uc021zfy.1 - 9 1643 c.1478T>A c.(1477-1479)gTt>gAt p.V493D NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN Homo sapiens taxilin beta (TXLNB), mRNA. 493 cytoplasm breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) GACACTATTAACCTCCTCTGC 0.478 PRPS1L1 221823 broad.mit.edu 37 7 18066565 18066565 + Missense_Mutation SNP T T C TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr7:18066565T>C uc003stz.3 - 0 922 c.841A>G c.(841-843)Atg>Gtg p.M281V NM_175886 NP_787082 P21108 PRPS3_HUMAN Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA. 281 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) CAATGCTTCATCTTCTCATCT 0.438 PKD1L1 168507 broad.mit.edu 37 7 47867036 47867036 + Missense_Mutation SNP G G C TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr7:47867036G>C uc003tny.2 - 44 6800 c.6766C>G c.(6766-6768)Ctg>Gtg p.L2256V C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_5'UTR NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 2256 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GCCCAGCGCAGGTGGCGAGCT 0.667 CALN1 83698 broad.mit.edu 37 7 71252855 71252855 + Missense_Mutation SNP C C T rs144352678 by1000genomes TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr7:71252855C>T uc003twb.4 - 6 1082 c.691G>A c.(691-693)Gtc>Atc p.V231I CALN1_uc003twa.4_Missense_Mutation_p.V189I|CALN1_uc003twc.4_Missense_Mutation_p.V189I NM_031468 NP_001017440 Q9BXU9 CABP8_HUMAN Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA. 189 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding p.V189I(1) biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) CTCTTCCGGACGCAGGTCTGT 0.537 ZAN 7455 broad.mit.edu 37 7 100336230 100336230 + Missense_Mutation SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr7:100336230C>T uc003uwj.3 + 6 925 c.760C>T c.(760-762)Cct>Tct p.P254S ZAN_uc003uwk.3_Missense_Mutation_p.P254S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 254 MAM 2. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CTTCTCTAGCCCTGGTAGTGA 0.577 OPN1SW 611 broad.mit.edu 37 7 128415497 128415497 + Silent SNP T T A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr7:128415497T>A uc003vnt.4 - 0 348 c.348A>T c.(346-348)gtA>gtT p.V116V NM_001708 NP_001699 P03999 OPSB_HUMAN Homo sapiens opsin 1 (cone pigments), short-wave-sensitive (OPN1SW), mRNA. 116 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1) 19 CAGTACCTGCTACAGTGCCCA 0.547 TTC26 79989 broad.mit.edu 37 7 138854079 138854079 + Silent SNP A A G TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr7:138854079A>G uc003vus.2 + 11 1164 c.1050A>G c.(1048-1050)ggA>ggG p.G350G TTC26_uc011kqn.1_Silent_p.G350G|TTC26_uc011kqo.1_Silent_p.G319G|TTC26_uc011kqp.1_Silent_p.G245G|TTC26_uc003vut.2_Silent_p.G210G|TTC26_uc011kqq.1_Silent_p.G219G NM_024926 NP_079202 A0AVF1 TTC26_HUMAN Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA. 350 binding breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 AGTTGGTGGGAGGATCAGCTA 0.368 GIMAP1-GIMAP5 55340 broad.mit.edu 37 7 150439564 150439564 + Missense_Mutation SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr7:150439564G>A uc022apw.1 + 5 1089 c.949G>A c.(949-951)Gtc>Atc p.V317I GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.V113I NM_001199577 NP_001186506 Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA. GGGGCCCCACGTCCTGCTTCT 0.587 PIP5K1B 8395 broad.mit.edu 37 9 71606125 71606125 + Silent SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr9:71606125C>T uc004agu.3 + 14 1877 c.1572C>T c.(1570-1572)aaC>aaT p.N524N PIP5K1B_uc011lrq.2_Intron|PIP5K1B_uc004agv.3_Non-coding_Transcript NM_003558 NP_003549 O14986 PI51B_HUMAN Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA. 524 endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) CTGAGCCCAACACTCTGGAAG 0.428 PALM2-AKAP2 445815 broad.mit.edu 37 9 112694260 112694260 + Nonsense_Mutation SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr9:112694260C>T uc004bei.2 + 5 640 c.448C>T c.(448-450)Cga>Tga p.R150* PALM2-AKAP2_uc004beg.3_Intron|PALM2-AKAP2_uc004beh.4_Nonsense_Mutation_p.R150*|PALM2-AKAP2_uc004bej.4_Nonsense_Mutation_p.R150*|PALM2-AKAP2_uc004bek.4_Nonsense_Mutation_p.R150*|PALM2-AKAP2_uc004bel.1_Intron NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA. 0 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 CCTCTGTTCACGAACAGCAGA 0.542 SLC46A2 57864 broad.mit.edu 37 9 115652657 115652657 + Missense_Mutation SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chr9:115652657C>T uc004bgk.3 - 0 537 c.305G>A c.(304-306)cGc>cAc p.R102H NM_033051 NP_149040 Q9BY10 TSCOT_HUMAN Homo sapiens solute carrier family 46, member 2 (SLC46A2), mRNA. 102 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1) 18 TCGGTGGTAGCGGTCGCTGAG 0.607 EDA 1896 broad.mit.edu 37 X 69253319 69253319 + Missense_Mutation SNP C C T TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chrX:69253319C>T uc004dxs.3 + 6 1107 c.865C>T c.(865-867)Cgc>Tgc p.R289C EDA_uc011mpj.2_Missense_Mutation_p.R286C|EDA_uc004dxr.3_Missense_Mutation_p.R289C NM_001399 NP_001390 Q92838 EDA_HUMAN Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA. 289 cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 GCTACATCCCCGCAGCGGGGA 0.498 OREG0019847 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MCF2 4168 broad.mit.edu 37 X 138679647 138679647 + Missense_Mutation SNP A A G TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6cb3467e-0ad8-4dd9-8b9b-9103629fd16f a99131bf-78b4-404b-9146-032998b71c38 g.chrX:138679647A>G uc011mwn.1 - 20 2468 c.2462T>C c.(2461-2463)aTg>aCg p.M821T MCF2_uc004fav.3_Missense_Mutation_p.M692T|MCF2_uc004fau.3_Missense_Mutation_p.M676T|MCF2_uc010nsh.2_Missense_Mutation_p.M676T|MCF2_uc011mwm.2_Missense_Mutation_p.M637T|MCF2_uc011mwl.2_Missense_Mutation_p.M653T|MCF2_uc011mwo.1_Missense_Mutation_p.M752T|MCF2_uc004faw.2_Missense_Mutation_p.M736T|Mir_548_uc022cfd.1_5'Flank NM_001171878 NP_001165349 P10911 MCF2_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA. 676 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) AATCTGATGCATAGAATCATT 0.388