Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut RP11-478B9.1 0 broad.mit.edu 37 12 45457598 45457598 + RNA SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr12:45457598G>A ENST00000548424.1 + 0 448 CTGTAACATCGTCACTGGTTC 0.502000 7 19 0 0 0.029380 0 0 LDLR 3949 broad.mit.edu 37 19 11224240 11224240 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:11224240C>G ENST00000558518.1 + 10 1575 c.1388C>G c.(1387-1389)tCt>tGt p.S463C LDLR_ENST00000558013.1_Missense_Mutation_p.S463C|LDLR_ENST00000557933.1_Missense_Mutation_p.S463C|LDLR_ENST00000545707.1_Missense_Mutation_p.S336C|LDLR_ENST00000535915.1_Missense_Mutation_p.S422C|LDLR_ENST00000455727.2_Missense_Mutation_p.S295C NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 463 cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CACGGCGTCTCTTCCTATGAC 0.632000 10 27 0 0 0.093190 0 0 CORO1B 57175 broad.mit.edu 37 11 67208498 67208498 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr11:67208498G>A ENST00000453768.2 - 6 924 c.854C>T c.(853-855)tCt>tTt p.S285F CORO1B_ENST00000341356.5_Intron|CORO1B_ENST00000393893.1_Intron Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 0 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) TCCAGGCAGAGAAGCTAGGAA 0.657000 5 20 0 0 0.021553 0 0 HIVEP1 3096 broad.mit.edu 37 6 12122650 12122650 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr6:12122650C>G ENST00000379388.2 + 4 2954 c.2622C>G c.(2620-2622)ttC>ttG p.F874L NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 874 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TTGGCACTTTCTATGATGATG 0.473000 24 134 0 0 0.083992 0 0 C16orf11 146325 broad.mit.edu 37 16 615181 615181 + Silent SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr16:615181C>G ENST00000409413.3 + 3 1869 c.1590C>G c.(1588-1590)ctC>ctG p.L530L NM_145270.2 NP_660313.1 P0CG20 CP011_HUMAN chromosome 16 open reading frame 11 530 central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 CCCCAGGGCTCCCCCTCGCAG 0.692000 11 16 0 0 0.020292 0 0 OLA1 29789 broad.mit.edu 37 2 175006625 175006625 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:175006625C>T ENST00000284719.3 - 5 723 c.477G>A c.(475-477)atG>atA p.M159I OLA1_ENST00000344357.5_Start_Codon_SNP_p.M1I|OLA1_ENST00000409546.1_Missense_Mutation_p.M179I|OLA1_ENST00000428402.2_Missense_Mutation_p.M159I NM_013341.3 NP_037473.3 Q9NTK5 OLA1_HUMAN Obg-like ATPase 1 159 ATP catabolic process cytoplasm ATP binding|GTP binding|hydrolase activity|protein binding breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 TGGGCCCAATCATTTCCTCAT 0.343000 16 87 0 0 0.033300 0 0 BCAM 4059 broad.mit.edu 37 19 45316587 45316587 + Silent SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:45316587C>G ENST00000391955.1 + 5 629 c.585C>G c.(583-585)ccC>ccG p.P195P BCAM_ENST00000270233.6_Silent_p.P195P P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 195 Ig-like V-type 2. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) TGGAGGTGCCCGTAGAGATGA 0.687000 18 41 0 0 0.049695 0 0 ORC2 4999 broad.mit.edu 37 2 201798698 201798698 + Splice_Site SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:201798698C>T ENST00000234296.2 - 10 958 c.e10-1 NM_006190.4 NP_006181.1 Q13416 ORC2_HUMAN origin recognition complex, subunit 2 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 20 CTAAGTCACTCTGAAAGTGAA 0.348000 14 73 0 0 0.020292 0 0 BRAF 673 broad.mit.edu 37 7 140501295 140501295 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr7:140501295G>C ENST00000288602.6 - 6 837 c.777C>G c.(775-777)ttC>ttG p.F259L NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 259 activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TTTGACAGCGGAAACCCTGGA 0.358000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 5 31 0 0 0.014758 0 0 BRCA2 675 broad.mit.edu 37 13 32913203 32913203 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr13:32913203G>A ENST00000544455.1 + 11 4938 c.4711G>A c.(4711-4713)Gag>Aag p.E1571K BRCA2_ENST00000380152.3_Missense_Mutation_p.E1571K NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 1571 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AAAGTACAGAGAGGCCTGTAA 0.383000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 45 31 0 0 0.048971 0 0 ATP2C1 27032 broad.mit.edu 37 3 130715584 130715584 + Silent SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr3:130715584C>G ENST00000510168.1 + 24 2737 c.2187C>G c.(2185-2187)ctC>ctG p.L729L ATP2C1_ENST00000533801.2_Silent_p.L724L|ATP2C1_ENST00000328560.8_Silent_p.L729L|ATP2C1_ENST00000359644.3_Silent_p.L729L|ATP2C1_ENST00000513801.1_Silent_p.L713L|ATP2C1_ENST00000504948.1_Silent_p.L713L|ATP2C1_ENST00000508532.1_Silent_p.L729L|ATP2C1_ENST00000422190.2_Silent_p.L729L|ATP2C1_ENST00000507488.2_Silent_p.L713L|ATP2C1_ENST00000505330.1_Silent_p.L713L|ATP2C1_ENST00000504381.1_Silent_p.L674L|ATP2C1_ENST00000428331.2_Silent_p.L729L|ATP2C1_ENST00000393221.4_Silent_p.L763L P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 729 actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) CTAATCCTCTCAATGCCATGC 0.363000 Hailey-Hailey disease 35 85 0 0 0.059317 0 0 PPL 5493 broad.mit.edu 37 16 4934903 4934903 + Silent SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr16:4934903G>C ENST00000345988.2 - 22 3842 c.3753C>G c.(3751-3753)ctC>ctG p.L1251L PPL_ENST00000590782.2_Silent_p.L1249L NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1251 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TCTCCTCCCTGAGCCGCTGAA 0.522000 14 59 0 0 0.024245 0 0 WDR47 22911 broad.mit.edu 37 1 109554140 109554140 + Silent SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:109554140G>T ENST00000357672.3 - 4 819 c.444C>A c.(442-444)atC>atA p.I148I WDR47_ENST00000369962.3_Silent_p.I176I|WDR47_ENST00000400794.3_Silent_p.I183I|WDR47_ENST00000369965.4_Silent_p.I176I|WDR47_ENST00000361054.3_Silent_p.I148I O94967 WDR47_HUMAN WD repeat domain 47 176 breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) TATCAGCAGGGATGAATTCTG 0.443000 42 100 6.45866e-13 7.3622e-13 0.104719 1 0 LRRC8A 56262 broad.mit.edu 37 9 131669481 131669481 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr9:131669481C>T ENST00000259324.5 + 3 561 c.38C>T c.(37-39)aCg>aTg p.T13M LRRC8A_ENST00000372600.4_Missense_Mutation_p.T13M|LRRC8A_ENST00000372599.3_Missense_Mutation_p.T13M NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 13 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 TTTGCGGACACGCAGCCAGCA 0.567000 9 20 0 0 0.047766 0 0 NBR1 4077 broad.mit.edu 37 17 41347008 41347008 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:41347008A>G ENST00000422280.1 + 14 2161 c.1702A>G c.(1702-1704)Ata>Gta p.I568V NBR1_ENST00000341165.6_Missense_Mutation_p.I568V|NBR1_ENST00000542611.1_Missense_Mutation_p.I547V|NBR1_ENST00000389312.4_Missense_Mutation_p.I568V|NBR1_ENST00000589872.1_Missense_Mutation_p.I568V|NBR1_ENST00000590996.1_Missense_Mutation_p.I568V NM_031858.2 NP_114064.1 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 568 ATG8 family protein-binding. macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) GCTGTTGGATATAAACATTGT 0.438000 8 26 0 0 0.047766 0 0 KCNV1 27012 broad.mit.edu 37 8 110984685 110984685 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr8:110984685G>A ENST00000524391.1 - 3 1825 c.793C>T c.(793-795)Cgg>Tgg p.R265W KCNV1_ENST00000297404.1_Missense_Mutation_p.R265W Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 265 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) CACCTGTCCCGCACACACAGG 0.532000 38 46 0 0 0.086207 0 0 CACYBP 27101 broad.mit.edu 37 1 174977767 174977767 + Missense_Mutation SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:174977767T>C ENST00000367681.2 + 5 966 c.326T>C c.(325-327)aTa>aCa p.I109T CACYBP_ENST00000367679.2_Missense_Mutation_p.I152T|CACYBP_ENST00000405362.1_Missense_Mutation_p.I109T NM_001007214.1 NP_001007215.1 Q9HB71 CYBP_HUMAN calcyclin binding protein 152 CS.|Interaction with SKP1. beta-catenin destruction complex protein homodimerization activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1) 11 ACAGTTCTTATATTGTGTAGA 0.338000 51 36 0 0 0.048971 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19315939 19315939 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr8:19315939G>A ENST00000454498.2 - 5 1862 c.849C>T c.(847-849)ttC>ttT p.F283F CSGALNACT1_ENST00000522854.1_Silent_p.F283F|CSGALNACT1_ENST00000311540.4_Silent_p.F283F|CSGALNACT1_ENST00000544602.1_Silent_p.F283F|CSGALNACT1_ENST00000332246.6_Silent_p.F283F|CSGALNACT1_ENST00000518542.1_5'UTR NM_001130518.1 NP_001123990.1 Q8TDX6 CGAT1_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 1 283 anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(111;0.182) AAACCAACCTGAAATTCTGCA 0.443000 46 141 0 0 0.045515 0 0 TRAV8-2 28684 broad.mit.edu 37 14 22315378 22315378 + RNA SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr14:22315378G>T ENST00000390434.3 + 0 541 GAGCGACGCGGCTGAGTACTT 0.507000 31 39 8.16721e-17 9.45677e-17 0.045705 1 0 GALNT11 63917 broad.mit.edu 37 7 151798008 151798008 + Splice_Site SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr7:151798008T>C ENST00000434507.1 + 5 856 c.e5+2 GALNT11_ENST00000430044.2_Splice_Site|GALNT11_ENST00000482812.1_Intron|GALNT11_ENST00000422997.2_Intron|GALNT11_ENST00000452146.2_Splice_Site|GALNT11_ENST00000320311.2_Splice_Site|GALNT11_ENST00000415421.1_Splice_Site Q8NCW6 GLT11_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) GAATGCAGCGTATGTGCCTTA 0.448000 3 123 0 0 0.004672 0 0 CACNA1D 776 broad.mit.edu 37 3 53834348 53834348 + Nonsense_Mutation SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr3:53834348G>T ENST00000288139.3 + 42 5174 c.5056G>T c.(5056-5058)Gag>Tag p.E1686* CACNA1D_ENST00000544977.1_Nonsense_Mutation_p.E45*|CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.E1666*|CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.E1651* NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1666 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GCAAGATGACGAGCCTGAGGA 0.463000 20 45 1.33834e-09 1.48704e-09 0.043863 1 0 HOXC4 3221 broad.mit.edu 37 12 54448755 54448755 + Silent SNP C C A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr12:54448755C>A ENST00000430889.2 + 2 607 c.561C>A c.(559-561)atC>atA p.I187I HOXC4_ENST00000303406.4_Silent_p.I187I NM_153633.2 NP_705897.1 P09017 HXC4_HUMAN homeobox C4 187 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 13 GGAGAAGGATCGAGATCGCCC 0.537000 13 8 3.45872e-05 3.65826e-05 0.028581 1 0 PRRC2C 23215 broad.mit.edu 37 1 171509614 171509614 + Silent SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:171509614A>G ENST00000367742.3 + 16 3251 c.3009A>G c.(3007-3009)agA>agG p.R1003R PRRC2C_ENST00000338920.4_Silent_p.R1001R|PRRC2C_ENST00000426496.2_Silent_p.R1001R|PRRC2C_ENST00000392078.3_Silent_p.R1003R Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 1001 protein C-terminus binding GCTCTAACAGAAGGGAAGAAG 0.403000 6 14 0 0 0.021553 0 0 PF4 5196 broad.mit.edu 37 4 74846999 74846999 + Silent SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr4:74846999C>T ENST00000296029.3 - 3 398 c.228G>A c.(226-228)ctG>ctA p.L76L NM_002619.3 NP_002610.1 P02776 PLF4_HUMAN platelet factor 4 76 cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production extracellular space|platelet alpha granule lumen chemokine activity|heparin binding kidney(1)|lung(1) 2 Breast(15;0.00136) all cancers(17;0.0034)|Lung(101;0.196) Drotrecogin alfa(DB00055) TTCCATTCTTCAGCGTGGCTC 0.488000 9 87 0 0 0.069234 0 0 KIAA1432 57589 broad.mit.edu 37 9 5763371 5763371 + Missense_Mutation SNP C C A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr9:5763371C>A ENST00000414202.2 + 19 2535 c.2344C>A c.(2344-2346)Ctg>Atg p.L782M KIAA1432_ENST00000418622.3_Missense_Mutation_p.L703M|KIAA1432_ENST00000381532.2_Missense_Mutation_p.L703M|KIAA1432_ENST00000251879.6_Missense_Mutation_p.L782M|KIAA1432_ENST00000449720.2_Missense_Mutation_p.L666M NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 782 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) GCTAGCTGTTCTGTTTGAAGA 0.478000 47 82 1.32667e-27 1.54427e-27 0.048971 1 0 GSG2 83903 broad.mit.edu 37 17 3629572 3629572 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:3629572G>A ENST00000325418.4 + 1 2362 c.2343G>A c.(2341-2343)atG>atA p.M781I ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron NM_031965.2 NP_114171.2 Q8TF76 HASP_HUMAN germ cell associated 2 (haspin) 781 Protein kinase. cell cycle|chromatin modification|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity ACAGGACAATGCTGAACTTCA 0.433000 11 34 0 0 0.080935 0 0 ZNF462 58499 broad.mit.edu 37 9 109688481 109688481 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr9:109688481G>C ENST00000277225.5 + 3 2577 c.2288G>C c.(2287-2289)aGa>aCa p.R763T ZNF462_ENST00000457913.1_Missense_Mutation_p.R763T Q96JM2 ZN462_HUMAN zinc finger protein 462 763 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 ATATGGGTAAGAGATACCAGT 0.488000 7 30 0 0 0.029380 0 0 CCDC170 80129 broad.mit.edu 37 6 151936765 151936765 + Missense_Mutation SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr6:151936765T>C ENST00000367290.5 + 10 2008 c.1919T>C c.(1918-1920)aTg>aCg p.M640T CCDC170_ENST00000239374.7_Missense_Mutation_p.M633T Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 633 ACCAGTGAAATGAAGACACTA 0.398000 38 45 0 0 0.098360 0 0 TTN 7273 broad.mit.edu 37 2 179449963 179449963 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:179449963C>T ENST00000589042.1 - 309 64732 c.64508G>A c.(64507-64509)gGa>gAa p.G21503E TTN_ENST00000359218.5_Missense_Mutation_p.G12563E|TTN_ENST00000460472.2_Missense_Mutation_p.G12438E|TTN_ENST00000342175.6_Missense_Mutation_p.G12630E|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G18935E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G19862E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19862 Fibronectin type-III 56. 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) TTCATCTTCTCCTTTTTTCCA 0.423000 32 189 0 0 0.050027 0 0 PAPPA2 60676 broad.mit.edu 37 1 176769219 176769219 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:176769219G>A ENST00000367662.3 + 21 6317 c.5153G>A c.(5152-5154)cGt>cAt p.R1718H NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1718 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.R1718H(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 ACTGGCCGGCGTCAATGGCAC 0.493000 25 86 0 0 0.037714 0 0 NET1 10276 broad.mit.edu 37 10 5498902 5498902 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr10:5498902G>A ENST00000355029.4 + 12 1878 c.1736G>A c.(1735-1737)cGa>cAa p.R579Q NET1_ENST00000380359.3_Missense_Mutation_p.R525Q|NET1_ENST00000542715.1_Missense_Mutation_p.R398Q NM_001047160.1 NP_001040625.1 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming 1 579 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1) 23 CCCGGCATCCGAAGAGCGAGG 0.493000 9 38 0 0 0.069234 0 0 HTR1E 3354 broad.mit.edu 37 6 87726086 87726086 + Missense_Mutation SNP C C A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr6:87726086C>A ENST00000305344.4 + 2 1737 c.1034C>A c.(1033-1035)aCg>aAg p.T345K HTR1E_ENST00000369584.1_Missense_Mutation_p.T345K NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 345 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CTGCTCTATACGAGTTTTAAT 0.438000 14 51 1.99824e-07 2.18712e-07 0.033300 1 0 PTPN14 5784 broad.mit.edu 37 1 214542824 214542824 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:214542824G>C ENST00000366956.5 - 17 3441 c.3247C>G c.(3247-3249)Cca>Gca p.P1083A PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 1083 Tyrosine-protein phosphatase. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) ACATCTTCTGGACAGCCGTGA 0.438000 37 74 0 0 0.086207 0 0 HIST1H2BD 3017 broad.mit.edu 37 6 26158508 26158508 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr6:26158508C>G ENST00000289316.2 + 1 135 c.111C>G c.(109-111)agC>agG p.S37R HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.S37R NM_138720.2 NP_619790.1 P58876 H2B1D_HUMAN histone cluster 1, H2bd 37 nucleosome assembly nucleosome|nucleus DNA binding breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 24 GCAAGGAGAGCTATTCAGTGT 0.542000 17 166 0 0 0.049695 0 0 TAF8 129685 broad.mit.edu 37 6 42036204 42036204 + Splice_Site SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr6:42036204G>A ENST00000372977.3 + 7 657 c.637_splice c.e7-1 p.L213_splice TAF8_ENST00000465926.1_Intron|TAF8_ENST00000372982.4_Splice_Site_p.L213_splice|TAF8_ENST00000494547.1_Splice_Site_p.L213_splice|TAF8_ENST00000456846.2_Splice_Site_p.L213_splice NM_138572.2 NP_612639.2 Q7Z7C8 TAF8_HUMAN TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa 213 cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent perinuclear region of cytoplasm|transcription factor TFIID complex DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179) ATTCGCCAGTGATTGCTGCCA 0.522000 54 395 0 0 0.048971 0 0 SLC17A6 57084 broad.mit.edu 37 11 22363086 22363086 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr11:22363086G>A ENST00000263160.3 + 2 536 c.99G>A c.(97-99)aaG>aaA p.K33K NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 33 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 TGCTGGAGAAGAAGCAAGACA 0.642000 11 45 0 0 0.093190 0 0 MAGEA11 4110 broad.mit.edu 37 X 148798058 148798058 + Silent SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chrX:148798058T>C ENST00000355220.5 + 5 1014 c.912T>C c.(910-912)tgT>tgC p.C304C MAGEA11_ENST00000333104.4_Silent_p.C275C NM_005366.4 NP_005357.2 P43364 MAGAB_HUMAN melanoma antigen family A, 11 304 MAGE. cytoplasm|nucleus protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GCATACAGTGTAATGAGCAGA 0.502000 23 101 0 0 0.083992 0 0 GAREM 64762 broad.mit.edu 37 18 29847915 29847915 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr18:29847915G>C ENST00000399218.4 - 6 2602 c.2547C>G c.(2545-2547)atC>atG p.I849M GAREM_ENST00000269209.6_Missense_Mutation_p.I850M NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 CCTCTGAGAGGATTTCTTCCG 0.418000 6 34 0 0 0.021553 0 0 NPHP3 27031 broad.mit.edu 37 3 132435736 132435736 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr3:132435736C>T ENST00000326682.8 - 4 764 c.688G>A c.(688-690)Gaa>Aaa p.E230K NPHP3_ENST00000337331.5_Missense_Mutation_p.E230K Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 230 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GTCCAATATTCACATTGGGTT 0.443000 15 74 0 0 0.024245 0 0 USH2A 7399 broad.mit.edu 37 1 215848775 215848775 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:215848775C>T ENST00000366943.2 - 63 12864 c.12478G>A c.(12478-12480)Gct>Act p.A4160T USH2A_ENST00000307340.3_Missense_Mutation_p.A4160T O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4160 Fibronectin type-III 27. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACAGTAGGAGCCAGCTGAGAG 0.542000 HNSCC(13;0.011) 12 46 0 0 0.105934 0 0 C10orf137 26098 broad.mit.edu 37 10 127429569 127429569 + Splice_Site SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr10:127429569G>C ENST00000337623.3 + 16 2173 c.e16-1 C10orf137_ENST00000356792.4_Splice_Site NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) TTTCTAAACAGATACTTATTG 0.378000 29 100 0 0 0.041601 0 0 TNFSF8 944 broad.mit.edu 37 9 117666585 117666585 + Missense_Mutation SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr9:117666585T>C ENST00000223795.2 - 4 444 c.331A>G c.(331-333)Acc>Gcc p.T111A TNFSF8_ENST00000474301.1_5'UTR NM_001244.3 NP_001235.1 P32971 TNFL8_HUMAN tumor necrosis factor (ligand) superfamily, member 8 111 cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1) 12 GACAACTTGGTTTTGTTTAGA 0.378000 48 46 0 0 0.048971 0 0 FCGR3B 2215 broad.mit.edu 37 1 161599568 161599568 + Splice_Site SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:161599568C>T ENST00000294800.3 - 3 592 c.319_splice c.e3+1 p.G107_splice FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR3B_ENST00000367964.2_Splice_Site_p.G107_splice|FCGR3B_ENST00000531221.1_Splice_Site_p.G143_splice|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000403078.3_Intron NM_001244753.1|NM_001271035.1 NP_001231682.1|NP_001257964.1 O75015 FCG3B_HUMAN Fc fragment of IgG, low affinity IIIb, receptor (CD16b) 107 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ATCAACTCACCGATATGGACT 0.468000 6 40 0 0 0.093190 0 0 MC4R 4160 broad.mit.edu 37 18 58038766 58038766 + Nonsense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr18:58038766G>A ENST00000299766.3 - 1 1235 c.817C>T c.(817-819)Cag>Tag p.Q273* NM_005912.2 NP_005903.2 P32245 MC4R_HUMAN melanocortin 4 receptor 273 feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(73;0.0946) TATGGATTCTGAGGACAAGAG 0.423000 13 51 0 0 0.105934 0 0 NEFL 4747 broad.mit.edu 37 8 24813613 24813613 + RNA SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr8:24813613G>C ENST00000221169.5 - 0 1011 P07196 NFL_HUMAN neurofilament, light polypeptide anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) TCTCCTGCTCGTACAGCGCCC 0.682000 4 11 0 0 0.009096 0 0 ZNF689 115509 broad.mit.edu 37 16 30621254 30621254 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr16:30621254A>G ENST00000287461.3 - 1 446 c.109T>C c.(109-111)Tac>Cac p.Y37H ZNF689_ENST00000566673.1_Intron NM_138447.1 NP_612456.1 Q96CS4 ZN689_HUMAN zinc finger protein 689 37 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1) 14 Colorectal(24;0.198) GGGGAGAAGTACACGGCCACG 0.692000 2 11 0 0 0.004672 0 0 PEAR1 375033 broad.mit.edu 37 1 156884446 156884446 + Silent SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:156884446C>T ENST00000338302.3 + 24 3195 c.2970C>T c.(2968-2970)gaC>gaT p.D990D PEAR1_ENST00000292357.7_Silent_p.D990D Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 990 Pro-rich. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CAGACCGAGACTCTGTGGGCT 0.607000 22 65 0 0 0.062417 0 0 NUDT12 83594 broad.mit.edu 37 5 102894586 102894586 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr5:102894586C>G ENST00000230792.2 - 3 886 c.790G>C c.(790-792)Gaa>Caa p.E264Q NUDT12_ENST00000507423.1_Missense_Mutation_p.E246Q NM_031438.2 NP_113626.1 Q9BQG2 NUD12_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 12 264 nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1) 12 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) TTACCAGCTTCTTTTTCTTTC 0.373000 3 7 0 0 0.009096 0 0 AP2M1 1173 broad.mit.edu 37 3 183894784 183894784 + Translation_Start_Site SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr3:183894784G>C ENST00000382456.3 + 2 317 c.3G>C c.(1-3)atG>atC p.M1I AP2M1_ENST00000411763.2_Start_Codon_SNP_p.M1I|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000439647.1_Start_Codon_SNP_p.M1I|AP2M1_ENST00000292807.5_Start_Codon_SNP_p.M1I NM_001025205.1 NP_001020376.1 Q96CW1 AP2M1_HUMAN adaptor-related protein complex 2, mu 1 subunit 1 axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane lipid binding|protein binding|transporter activity endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 18 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTGCCGCCATGATTGGAGGCT 0.582000 6 38 0 0 0.029380 0 0 ZNF675 171392 broad.mit.edu 37 19 23836955 23836955 + Silent SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:23836955T>C ENST00000359788.4 - 4 948 c.780A>G c.(778-780)gaA>gaG p.E260E ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron NM_138330.2 NP_612203.2 Q8TD23 ZN675_HUMAN zinc finger protein 675 260 bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) CTTTGCCACATTCTTCACATT 0.353000 10 31 0 0 0.058154 0 0 CREB3L3 84699 broad.mit.edu 37 19 4171169 4171169 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:4171169C>T ENST00000602147.1 + 7 945 c.865C>T c.(865-867)Cgc>Tgc p.R289C CREB3L3_ENST00000078445.2_Silent_p.V324V|CREB3L3_ENST00000595923.1_Silent_p.V323V|CREB3L3_ENST00000602257.1_Silent_p.V322V|CREB3L3_ENST00000252587.3_Intron Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 3 0 Leucine-zipper. response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) GCACCTGTGTCGCAGTGAGTC 0.602000 21 23 0 0 0.062417 0 0 GTF3C2 2976 broad.mit.edu 37 2 27566417 27566417 + Missense_Mutation SNP T T A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:27566417T>A ENST00000359541.2 - 2 434 c.5A>T c.(4-6)gAt>gTt p.D2V GTF3C2_ENST00000264720.3_Missense_Mutation_p.D2V Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 2 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCGCAGGTATCCATCAGCAC 0.517000 39 70 0 0 0.042209 0 0 HNF1A 6927 broad.mit.edu 37 12 121426777 121426777 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr12:121426777G>A ENST00000257555.6 + 2 694 c.468G>A c.(466-468)acG>acA p.T156T HNF1A_ENST00000400024.2_Silent_p.T156T|HNF1A_ENST00000402929.1_Silent_p.T156T|HNF1A_ENST00000541395.1_Silent_p.T156T|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Silent_p.T156T|HNF1A_ENST00000543427.1_Silent_p.T39T P20823 HNF1A_HUMAN HNF1 homeobox A 156 Interaction with DNA. glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCATGAAGACGCAGAAGCGGG 0.622000 Hepatic Adenoma, Familial Clustering of 10 19 0 0 0.069234 0 0 KIAA1432 57589 broad.mit.edu 37 9 5763345 5763345 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr9:5763345A>G ENST00000414202.2 + 19 2509 c.2318A>G c.(2317-2319)cAc>cGc p.H773R KIAA1432_ENST00000418622.3_Missense_Mutation_p.H694R|KIAA1432_ENST00000381532.2_Missense_Mutation_p.H694R|KIAA1432_ENST00000251879.6_Missense_Mutation_p.H773R|KIAA1432_ENST00000449720.2_Missense_Mutation_p.H657R NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 773 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) CTGCCTTTCCACATCAACATT 0.478000 41 67 0 0 0.092188 0 0 ACSM3 6296 broad.mit.edu 37 16 20781560 20781560 + Nonsense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr16:20781560G>A ENST00000289416.5 + 2 679 c.204G>A c.(202-204)tgG>tgA p.W68* ACSM3_ENST00000450120.2_Nonsense_Mutation_p.W23*|ACSM3_ENST00000440284.2_Nonsense_Mutation_p.W68* NM_005622.3 NP_005613.2 Q53FZ2 ACSM3_HUMAN acyl-CoA synthetase medium-chain family member 3 68 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 21 TGGACCAATGGACTGATAAGG 0.428000 4 30 0 0 0.009096 0 0 M6PR 4074 broad.mit.edu 37 12 9095069 9095069 + Silent SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr12:9095069T>C ENST00000000412.3 - 6 1122 c.654A>G c.(652-654)aaA>aaG p.K218K NM_002355.3 NP_002346.1 P20645 MPRD_HUMAN mannose-6-phosphate receptor (cation dependent) 218 endosome to lysosome transport|receptor-mediated endocytosis cell surface|endosome|integral to plasma membrane|lysosomal membrane mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1) 11 Hepatocellular(102;0.137) BRCA - Breast invasive adenocarcinoma(232;0.0146) GCTCCATTCCTTTGGCTCCCA 0.478000 47 269 0 0 0.048971 0 0 TAF7L 54457 broad.mit.edu 37 X 100547854 100547854 + Translation_Start_Site SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chrX:100547854G>A ENST00000372905.2 - 0 205 TAF7L_ENST00000372907.3_Silent_p.D60D Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 GAGTGTCCTCGTCGGCAGGAA 0.562000 7 175 0 0 0.047766 0 0 LRRC16B 90668 broad.mit.edu 37 14 24532038 24532038 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr14:24532038G>A ENST00000342740.5 + 29 2843 c.2689G>A c.(2689-2691)Gaa>Aaa p.E897K LRRC16B_ENST00000334420.7_5'UTR NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 897 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) CACAGATGATGAACTTGGGAC 0.597000 8 85 0 0 0.047766 0 0 FAT1 2195 broad.mit.edu 37 4 187538164 187538164 + Nonsense_Mutation SNP C C A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr4:187538164C>A ENST00000441802.2 - 11 9279 c.9070G>T c.(9070-9072)Gaa>Taa p.E3024* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3024 Cadherin 28. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CTTACCTTTTCACAAACTGGA 0.388000 HNSCC(5;0.00058) 13 22 7.93312e-07 8.55533e-07 0.020292 1 0 NUP210L 91181 broad.mit.edu 37 1 154067493 154067493 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:154067493C>G ENST00000368559.3 - 15 2176 c.2105G>C c.(2104-2106)gGa>gCa p.G702A NUP210L_ENST00000271854.3_Missense_Mutation_p.G702A NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 702 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TTGTGCTATTCCAATCTTCTC 0.443000 10 28 0 0 0.058154 0 0 NLRP1 22861 broad.mit.edu 37 17 5486123 5486123 + Silent SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:5486123C>T ENST00000345221.3 - 2 869 c.315G>A c.(313-315)ctG>ctA p.L105L NLRP1_ENST00000269280.4_Silent_p.L105L|NLRP1_ENST00000354411.3_Silent_p.L105L|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Silent_p.L105L|NLRP1_ENST00000577119.1_Silent_p.L105L|NLRP1_ENST00000572272.1_Silent_p.L105L NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 105 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) TGGGAGACCCCAGGTGGGGTT 0.602000 3 32 0 0 0.004672 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 4 68 0 0 0.021553 0 0 FOXE3 2301 broad.mit.edu 37 1 47882290 47882290 + Silent SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:47882290C>T ENST00000335071.2 + 1 547 c.303C>T c.(301-303)atC>atT p.I101I NM_012186.2 NP_036318.1 Q13461 FOXE3_HUMAN forkhead box E3 101 cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding lung(3)|prostate(1)|upper_aerodigestive_tract(1) 5 READ - Rectum adenocarcinoma(2;0.0908) ACCGCTTCATCACCGAACGCT 0.667000 9 20 0 0 0.058154 0 0 CHPF2 54480 broad.mit.edu 37 7 150935153 150935153 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr7:150935153G>C ENST00000035307.2 + 4 3218 c.1705G>C c.(1705-1707)Gag>Cag p.E569Q CHPF2_ENST00000495645.1_Missense_Mutation_p.E561Q NM_019015.1 NP_061888.1 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 569 Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3) 17 TGTGCGAGCAGAGGCCCCTTC 0.632000 6 43 0 0 0.047766 0 0 C1orf189 388701 broad.mit.edu 37 1 154171936 154171936 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:154171936C>G ENST00000368525.3 - 4 298 c.273G>C c.(271-273)caG>caC p.Q91H NM_001010979.1 NP_001010979.1 Q5VU69 CA189_HUMAN chromosome 1 open reading frame 189 91 kidney(1)|large_intestine(3)|lung(1)|skin(2) 7 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) CTTTGCCCATCTGATTTAGTT 0.478000 42 221 0 0 0.039052 0 0 GABRB3 2562 broad.mit.edu 37 15 26806279 26806279 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr15:26806279G>A ENST00000541819.2 - 9 1150 c.1048C>T c.(1048-1050)Cgg>Tgg p.R350W GABRB3_ENST00000545868.1_Missense_Mutation_p.R209W|GABRB3_ENST00000400188.3_Missense_Mutation_p.R223W|GABRB3_ENST00000299267.4_Missense_Mutation_p.R294W|GABRB3_ENST00000311550.5_Missense_Mutation_p.R294W P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 294 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AAGGTCTCCCGAAGGTGGGTG 0.473000 12 47 0 0 0.093190 0 0 DNAJC15 29103 broad.mit.edu 37 13 43643083 43643083 + Missense_Mutation SNP A A T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr13:43643083A>T ENST00000379221.2 + 3 602 c.178A>T c.(178-180)Atc>Ttc p.I60F DNAJC15_ENST00000474320.1_3'UTR NM_013238.2 NP_037370.2 Q9Y5T4 DJC15_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 15 60 integral to membrane heat shock protein binding endometrium(2)|kidney(1)|urinary_tract(1) 4 Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737) CGCATTTCGGATCTGGAAACC 0.333000 7 12 0 0 0.038147 0 0 DONSON 29980 broad.mit.edu 37 21 34950680 34950680 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr21:34950680G>C ENST00000453626.1 - 10 1493 c.1489C>G c.(1489-1491)Cgt>Ggt p.R497G DONSON_ENST00000303113.6_Missense_Mutation_p.P531R|DONSON_ENST00000432378.1_Missense_Mutation_p.P474R|DONSON_ENST00000303071.5_Missense_Mutation_p.P545R Q9NYP3 DONS_HUMAN downstream neighbor of SON 0 multicellular organismal development nucleus central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1) 11 CCCAAGTAACGGTATTTGACT 0.403000 9 71 0 0 0.058154 0 0 KLHL8 57563 broad.mit.edu 37 4 88106900 88106900 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr4:88106900G>A ENST00000273963.5 - 3 609 c.268C>T c.(268-270)Ccc>Tcc p.P90S KLHL8_ENST00000512111.1_Missense_Mutation_p.P90S|KLHL8_ENST00000425278.2_Intron|KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000498875.2_Intron NM_020803.3 NP_065854.3 Q9P2G9 KLHL8_HUMAN kelch-like family member 8 90 BTB. breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) CTAAAGTAGGGAATAACACAA 0.373000 6 11 0 0 0.021553 0 0 STRBP 55342 broad.mit.edu 37 9 125909210 125909210 + Missense_Mutation SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr9:125909210G>T ENST00000447404.2 - 12 1566 c.1262C>A c.(1261-1263)tCt>tAt p.S421Y STRBP_ENST00000348403.5_Missense_Mutation_p.S421Y|STRBP_ENST00000360998.3_Missense_Mutation_p.S407Y Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 421 DRBM 1. multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2) 26 CACATCTACAGACATTGTGAA 0.453000 27 56 2.65835e-16 3.06197e-16 0.034045 1 0 USH1G 124590 broad.mit.edu 37 17 72915717 72915717 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:72915717G>A ENST00000319642.1 - 2 1396 c.1214C>T c.(1213-1215)gCc>gTc p.A405V NM_173477.2 NP_775748.2 Q495M9 USH1G_HUMAN Usher syndrome 1G (autosomal recessive) 405 SAM. equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton HN1/USH1G(2) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3) 14 all_lung(278;0.172)|Lung NSC(278;0.207) CAGGAGGGCGGCAAAGTCCTC 0.627000 4 60 0 0 0.009096 0 0 EPHA7 2045 broad.mit.edu 37 6 94120310 94120310 + Silent SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr6:94120310C>T ENST00000369303.4 - 3 925 c.741G>A c.(739-741)agG>agA p.R247R EPHA7_ENST00000369297.1_Silent_p.R247R NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 247 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TGCAGTGCATCCTGGGGGCGT 0.473000 9 37 0 0 0.047766 0 0 VWA5A 4013 broad.mit.edu 37 11 123989062 123989062 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr11:123989062A>G ENST00000456829.2 + 5 664 c.413A>G c.(412-414)gAt>gGt p.D138G VWA5A_ENST00000361352.5_Missense_Mutation_p.D138G|VWA5A_ENST00000392744.4_Missense_Mutation_p.D154G|VWA5A_ENST00000392748.1_Missense_Mutation_p.D138G|VWA5A_ENST00000449321.1_Missense_Mutation_p.D138G|VWA5A_ENST00000360334.4_Missense_Mutation_p.D138G NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 138 autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 CTGGAAGCAGATGGGGCTCTG 0.537000 15 89 0 0 0.033300 0 0 HDHD3 81932 broad.mit.edu 37 9 116136274 116136274 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr9:116136274G>A ENST00000238379.5 - 2 1258 c.361C>T c.(361-363)Ctg>Ttg p.L121L HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_Silent_p.L121L NM_031219.2 NP_112496.1 Q9BSH5 HDHD3_HUMAN haloacid dehalogenase-like hydrolase domain containing 3 121 phosphoglycolate phosphatase activity|protein binding large_intestine(2)|liver(1) 3 CACTCCCTCAGGGTGTCCTCA 0.602000 27 102 0 0 0.108266 0 0 LTBP1 4052 broad.mit.edu 37 2 33588552 33588552 + Missense_Mutation SNP A A C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:33588552A>C ENST00000404816.2 + 29 4719 c.4366A>C c.(4366-4368)Acg>Ccg p.T1456P LTBP1_ENST00000354476.3_Missense_Mutation_p.T1457P|LTBP1_ENST00000390003.4_Missense_Mutation_p.T1131P|LTBP1_ENST00000418533.2_Missense_Mutation_p.T1088P|LTBP1_ENST00000407925.1_Missense_Mutation_p.T1130P|LTBP1_ENST00000272273.5_Missense_Mutation_p.T354P|LTBP1_ENST00000404525.1_Missense_Mutation_p.T1077P|LTBP1_ENST00000402934.1_Missense_Mutation_p.T1075P Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1456 EGF-like 15; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TAAGCAAGGGACGTACTATGA 0.398000 14 92 0 0 0.024245 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101573934 101573934 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr3:101573934A>G ENST00000326172.5 + 7 1587 c.1472A>G c.(1471-1473)aAt>aGt p.N491S NFKBIZ_ENST00000326151.5_Missense_Mutation_p.N369S|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.N391S NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 491 Interaction with NFKB1/p50 (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 GTGGCTGCCAATCAGCATCTC 0.458000 21 102 0 0 0.091800 0 0 TMC2 117532 broad.mit.edu 37 20 2621930 2621930 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr20:2621930A>G ENST00000358864.1 + 20 2669 c.2654A>G c.(2653-2655)cAc>cGc p.H885R NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 885 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 GATTCTGGCCACGCCCCATCT 0.617000 3 47 0 0 0.004672 0 0 ARID2 196528 broad.mit.edu 37 12 46245941 46245941 + Missense_Mutation SNP C C A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr12:46245941C>A ENST00000334344.6 + 15 4207 c.4035C>A c.(4033-4035)gaC>gaA p.D1345E ARID2_ENST00000422737.1_Missense_Mutation_p.D1196E|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.D955E NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1345 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AACAAATAGACATGCAAGATA 0.363000 """N, S, F""" hepatocellular carcinoma 11 35 0.0135373 0.0138521 0.093190 1 0 OBSCN 84033 broad.mit.edu 37 1 228509058 228509058 + Missense_Mutation SNP C C A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:228509058C>A ENST00000570156.2 + 66 17461 c.17387C>A c.(17386-17388)gCa>gAa p.A5796E OBSCN_ENST00000366707.4_Missense_Mutation_p.A2473E|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1958E|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4839E|OBSCN_ENST00000422127.1_Missense_Mutation_p.A4839E NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4839 DH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGGGCCCCAGCAGCCCCCTCT 0.622000 8 25 3.09899e-07 3.37513e-07 0.047766 1 0 FCGR3A 2214 broad.mit.edu 37 1 161518211 161518211 + Splice_Site SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:161518211C>T ENST00000367969.3 - 3 610 c.427_splice c.e3+1 p.G143_splice FCGR3A_ENST00000436743.1_Splice_Site_p.G107_splice|FCGR3A_ENST00000540048.1_Splice_Site_p.G107_splice|FCGR3A_ENST00000443193.1_Splice_Site_p.G142_splice|FCGR3A_ENST00000476031.1_5'UTR NM_000569.6 NP_000560.5 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor (CD16a) 107 Ig-like C2-type 2. immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ATCAACTCACCGATATGGACT 0.473000 4 59 0 0 0.038147 0 0 PKD1L1 168507 broad.mit.edu 37 7 47882701 47882701 + Silent SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr7:47882701G>T ENST00000289672.2 - 34 5354 c.5304C>A c.(5302-5304)gtC>gtA p.V1768V NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1768 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 TACTTTTAGCGACCAAAAATC 0.388000 10 21 2.17888e-05 2.32696e-05 0.058154 1 0 MYH3 4621 broad.mit.edu 37 17 10545560 10545560 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:10545560G>A ENST00000583535.1 - 17 2043 c.1956C>T c.(1954-1956)ttC>ttT p.F652F MYH3_ENST00000226209.7_Silent_p.F652F NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 652 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TTCTTACCCTGAAAAGGGCAG 0.388000 8 32 0 0 0.058154 0 0 TMEM64 169200 broad.mit.edu 37 8 91643854 91643854 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr8:91643854C>T ENST00000458549.2 - 2 1054 c.877G>A c.(877-879)Ggt>Agt p.G293S TMEM64_ENST00000418210.2_Intron|TMEM64_ENST00000519519.1_Missense_Mutation_p.G32S NM_001008495.3 NP_001008495.2 Q6YI46 TMM64_HUMAN transmembrane protein 64 293 integral to membrane endometrium(1)|large_intestine(1) 2 BRCA - Breast invasive adenocarcinoma(11;0.0598) AGGGTGGTACCCAAGTAAGAA 0.423000 106 51 0 0 0.048971 0 0 FOXO3 2309 broad.mit.edu 37 6 108984767 108984767 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr6:108984767G>C ENST00000406360.1 + 2 1074 c.731G>C c.(730-732)gGa>gCa p.G244A FOXO3_ENST00000343882.6_Missense_Mutation_p.G244A|FOXO3_ENST00000540898.1_Missense_Mutation_p.G24A NM_001455.3 NP_001446.1 O43524 FOXO3_HUMAN forkhead box O3 244 PDGGKSGKA -> LMGEERKT (in Ref. 5; CAA04860). antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) GGGAAGAGCGGAAAAGCCCCC 0.592000 9 19 0 0 0.058154 0 0 PEX1 5189 broad.mit.edu 37 7 92147568 92147568 + Splice_Site SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr7:92147568T>C ENST00000248633.4 - 4 454 c.357_splice c.e4-1 p.E120_splice PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Splice_Site_p.E120_splice NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 120 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) AGCATGCAGCTCCTAGAACCA 0.313000 24 36 0 0 0.091800 0 0 SGK1 6446 broad.mit.edu 37 6 134498960 134498960 + Translation_Start_Site SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr6:134498960T>C ENST00000528577.1 - 1 83 c.1A>G c.(1-3)Atg>Gtg p.M1V SGK1_ENST00000367858.5_Intron NM_001143677.1 NP_001137149.1 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 0 Necessary for localization to the cytoplasm. apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) TGAGATGACATGAGAGCACGA 0.493000 5 13 0 0 0.021553 0 0 MROH1 727957 broad.mit.edu 37 8 145235189 145235189 + Missense_Mutation SNP A A C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr8:145235189A>C ENST00000528919.1 + 5 530 c.409A>C c.(409-411)Acc>Ccc p.T137P MROH1_ENST00000326134.5_Missense_Mutation_p.T137P|MROH1_ENST00000534366.1_Missense_Mutation_p.T137P|MROH1_ENST00000423230.2_Missense_Mutation_p.T137P|MROH1_ENST00000398656.4_Missense_Mutation_p.T137P NM_032450.2 NP_115826.2 maestro heat-like repeat family member 1 GCACCCTGGGACCCTGCCACA 0.697000 6 52 0 0 0.043863 0 0 EWSR1 2130 broad.mit.edu 37 22 29695245 29695245 + Silent SNP C C T rs138837921 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr22:29695245C>T ENST00000397938.2 + 15 1921 c.1602C>T c.(1600-1602)ttC>ttT p.F534F EWSR1_ENST00000406548.1_Silent_p.F533F|EWSR1_ENST00000332035.6_Silent_p.F478F|EWSR1_ENST00000331029.7_Silent_p.F496F|EWSR1_ENST00000414183.2_Silent_p.F539F|EWSR1_ENST00000332050.6_Silent_p.F461F NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 534 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ACCAGAACTTCGCCTGGAGAA 0.512000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 27 102 0 0 0.041601 0 0 SLC43A1 8501 broad.mit.edu 37 11 57268800 57268800 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr11:57268800C>T ENST00000278426.3 - 3 512 c.157G>A c.(157-159)Gag>Aag p.E53K SLC43A1_ENST00000528450.1_Missense_Mutation_p.E53K NM_003627.5 NP_003618.1 O75387 LAT3_HUMAN solute carrier family 43 (amino acid system L transporter), member 1 53 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane neutral amino acid transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 GTGCTGCTCTCAGCTGAGGAG 0.607000 5 34 0 0 0.021553 0 0 ZNF616 90317 broad.mit.edu 37 19 52619847 52619847 + Silent SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:52619847A>G ENST00000600228.1 - 4 831 c.570T>C c.(568-570)tgT>tgC p.C190C ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) AGGCTTTGCCACATTCATTAC 0.373000 41 83 0 0 0.039052 0 0 NKX3-2 579 broad.mit.edu 37 4 13544126 13544126 + Missense_Mutation SNP C C T rs61795263 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr4:13544126C>T ENST00000382438.5 - 2 1128 c.493G>A c.(493-495)Gac>Aac p.D165N NM_001189.3 NP_001180.1 P78367 NKX32_HUMAN NK3 homeobox 2 165 negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1)|lung(4)|prostate(1) 7 CCAACACCGTCGTCCTCGGTC 0.721000 4 20 0 0 0.009096 0 0 FCGBP 8857 broad.mit.edu 37 19 40376315 40376315 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:40376315C>G ENST00000221347.6 - 25 11996 c.11989G>C c.(11989-11991)Gag>Cag p.E3997Q NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 3997 Cys-rich. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GTTCCTACCTCATAGTAGACA 0.542000 6 28 0 0 0.038147 0 0 IZUMO1 284359 broad.mit.edu 37 19 49245052 49245052 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:49245052C>T ENST00000332955.2 - 8 1295 c.748G>A c.(748-750)Gtc>Atc p.V250I NM_182575.2 NP_872381.2 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 250 Ig-like C2-type. fusion of sperm to egg plasma membrane integral to membrane endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) TGACCTGTGACGTGAAAATTG 0.632000 9 27 0 0 0.047766 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 3 24 0 0 0.004672 0 0 SGCE 8910 broad.mit.edu 37 7 94257653 94257653 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr7:94257653G>A ENST00000415788.2 - 4 446 c.359C>T c.(358-360)cCc>cTc p.P120L SGCE_ENST00000265735.7_Missense_Mutation_p.P84L|SGCE_ENST00000447873.1_Missense_Mutation_p.P84L|SGCE_ENST00000428696.2_Missense_Mutation_p.P84L|SGCE_ENST00000445866.2_Missense_Mutation_p.P84L|SGCE_ENST00000437425.2_Missense_Mutation_p.P43L O43556 SGCE_HUMAN sarcoglycan, epsilon 84 cell-matrix adhesion|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma calcium ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 14 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) AAATGTTATGGGATCATTACT 0.368000 13 22 0 0 0.105934 0 0 FCRL3 115352 broad.mit.edu 37 1 157666929 157666929 + Splice_Site SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:157666929C>G ENST00000368184.3 - 6 1136 c.e6+1 FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Splice_Site NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) TAGACACTCACTCTGTACACG 0.522000 17 24 0 0 0.043863 0 0 TENM1 10178 broad.mit.edu 37 X 123870838 123870838 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chrX:123870838C>G ENST00000422452.2 - 4 808 c.745G>C c.(745-747)Gtc>Ctc p.V249L TENM1_ENST00000371130.3_Missense_Mutation_p.V249L NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CTGTTCAGGACCCAGCTGTTA 0.502000 168 88 0 0 0.048971 0 0 ZNF598 90850 broad.mit.edu 37 16 2053657 2053657 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr16:2053657C>T ENST00000563630.1 - 2 372 c.130G>A c.(130-132)Gat>Aat p.D44N ZNF598_ENST00000562103.1_Missense_Mutation_p.D44N|ZNF598_ENST00000431526.1_Missense_Mutation_p.D99N Q86UK7 ZN598_HUMAN zinc finger protein 598 99 intracellular zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 AAGTAGATATCATATTTCTTC 0.547000 OREG0023548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 42 0 0 0.024245 0 0 AKAP9 10142 broad.mit.edu 37 7 91632007 91632007 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr7:91632007G>C ENST00000359028.2 + 9 3037 c.2812G>C c.(2812-2814)Gaa>Caa p.E938Q AKAP9_ENST00000356239.3_Missense_Mutation_p.E926Q|AKAP9_ENST00000358100.2_Missense_Mutation_p.E938Q Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 938 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTTTGTAGCAGAAACATTGGA 0.358000 T BRAF papillary thyroid 9 38 0 0 0.047766 0 0 ABCC10 89845 broad.mit.edu 37 6 43413457 43413457 + Missense_Mutation SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr6:43413457G>T ENST00000244533.3 + 13 3426 c.3067G>T c.(3067-3069)Gca>Tca p.A1023S ABCC10_ENST00000372530.4_Missense_Mutation_p.A1051S NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 1051 ABC transmembrane type-1 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GGCCAACGCGGCAGGCCTGCT 0.647000 8 56 0.000157383 0.000164096 0.038147 1 0 PCDHB10 56126 broad.mit.edu 37 5 140572793 140572793 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr5:140572793C>G ENST00000239446.4 + 1 852 c.668C>G c.(667-669)tCt>tGt p.S223C NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 223 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCATCCAGGTCTGGGACCTCT 0.552000 28 70 0 0 0.099896 0 0 WWC1 23286 broad.mit.edu 37 5 167887709 167887709 + Nonsense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr5:167887709C>T ENST00000265293.4 + 20 3380 c.2878C>T c.(2878-2880)Cga>Tga p.R960* WWC1_ENST00000521089.1_Nonsense_Mutation_p.R960*|WWC1_ENST00000522140.1_3'UTR NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 960 Interaction with PRKCZ.|Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) ACCTTTTGTTCGAAACTCCCT 0.507000 13 11 0 0 0.033300 0 0 PKP4 8502 broad.mit.edu 37 2 159488376 159488376 + Missense_Mutation SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:159488376G>T ENST00000389757.3 + 8 1390 c.1265G>T c.(1264-1266)aGc>aTc p.S422I PKP4_ENST00000389759.3_Missense_Mutation_p.S422I NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 422 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 ACCTATTACAGCCCAGTGTAC 0.527000 HNSCC(62;0.18) 22 62 1.96292e-10 2.20328e-10 0.055883 1 0 PTK2 5747 broad.mit.edu 37 8 141874416 141874416 + Nonsense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr8:141874416G>A ENST00000522684.1 - 5 674 c.445C>T c.(445-447)Caa>Taa p.Q149* PTK2_ENST00000395218.2_Nonsense_Mutation_p.Q149*|PTK2_ENST00000519419.1_Nonsense_Mutation_p.Q193*|PTK2_ENST00000521059.1_Nonsense_Mutation_p.Q149*|PTK2_ENST00000340930.3_Nonsense_Mutation_p.Q149*|PTK2_ENST00000535192.1_Nonsense_Mutation_p.Q149*|PTK2_ENST00000517887.1_Nonsense_Mutation_p.Q193* NM_153831.3 NP_722560.1 Q05397 FAK1_HUMAN protein tyrosine kinase 2 149 FERM. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) AATACCTGTTGATAGAAGAAA 0.264000 11 134 0 0 0.093190 0 0 APC 324 broad.mit.edu 37 5 112176368 112176368 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr5:112176368G>A ENST00000457016.1 + 16 5457 c.5077G>A c.(5077-5079)Gaa>Aaa p.E1693K CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.E1693K|APC_ENST00000257430.4_Missense_Mutation_p.E1693K P25054 APC_HUMAN adenomatous polyposis coli 1693 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.K1192fs*3(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) CATTCCTACAGAAGGCAGAAG 0.438000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 4 17 0 0 0.014758 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72169178 72169178 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr14:72169178C>T ENST00000555818.1 + 12 3950 c.3602C>T c.(3601-3603)aCg>aTg p.T1201M SIPA1L1_ENST00000358550.2_Missense_Mutation_p.T1201M|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.T676M|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.T1201M NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1201 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GGAAAATCCACGCCTAGCTGG 0.478000 8 27 0 0 0.038147 0 0 FSIP1 161835 broad.mit.edu 37 15 40057834 40057834 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr15:40057834G>C ENST00000350221.3 - 4 633 c.424C>G c.(424-426)Caa>Gaa p.Q142E NM_152597.4 NP_689810.3 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 142 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) TCTAGACCTTGCTTCTTAATT 0.323000 8 25 0 0 0.047766 0 0 VPS41 27072 broad.mit.edu 37 7 38781699 38781699 + Missense_Mutation SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr7:38781699G>T ENST00000310301.4 - 25 2199 c.2145C>A c.(2143-2145)aaC>aaA p.N715K VPS41_ENST00000395969.2_Missense_Mutation_p.N690K NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 715 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 TGCCAATGTTGTTTAACAAGC 0.323000 6 27 0.000274275 0.000284625 0.047766 1 0 LTN1 26046 broad.mit.edu 37 21 30357237 30357237 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr21:30357237C>T ENST00000361371.4 - 4 502 c.352G>A c.(352-354)Gac>Aac p.D118N LTN1_ENST00000389195.2_Missense_Mutation_p.D164N|LTN1_ENST00000389194.2_Missense_Mutation_p.D164N NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 118 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 ACGCGACGGTCATGATCCTAT 0.348000 10 17 0 0 0.058154 0 0 TNRC6C 57690 broad.mit.edu 37 17 76045225 76045225 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:76045225G>A ENST00000335749.4 + 3 651 c.82G>A c.(82-84)Gtc>Atc p.V28I TNRC6C_ENST00000588847.1_Missense_Mutation_p.V28I|TNRC6C_ENST00000588061.1_Missense_Mutation_p.V28I|TNRC6C_ENST00000541771.1_Missense_Mutation_p.V28I|TNRC6C_ENST00000544502.1_Missense_Mutation_p.V28I|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V28I NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 28 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) TGGCGCACTCGTCCAAAGCCC 0.557000 11 59 0 0 0.069234 0 0 DGKQ 1609 broad.mit.edu 37 4 959312 959312 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr4:959312C>T ENST00000273814.3 - 14 1658 c.1585G>A c.(1585-1587)Gtg>Atg p.V529M DGKQ_ENST00000502309.1_5'UTR NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 529 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) ACGGACACCACGGTGGCTGCA 0.652000 3 25 0 0 0.004672 0 0 HSPA12A 259217 broad.mit.edu 37 10 118434882 118434882 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr10:118434882G>C ENST00000369209.3 - 12 1542 c.1438C>G c.(1438-1440)Ctg>Gtg p.L480V NM_025015.2 NP_079291.2 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 480 ATP binding breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all cancers(201;0.0158) CCGCCCACCAGAAAGAGGAAC 0.622000 4 12 0 0 0.009096 0 0 KLHDC4 54758 broad.mit.edu 37 16 87744911 87744911 + Missense_Mutation SNP G G A rs113844965 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr16:87744911G>A ENST00000270583.5 - 9 1032 c.974C>T c.(973-975)tCg>tTg p.S325L KLHDC4_ENST00000353170.5_Missense_Mutation_p.S268L|KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000347925.5_Missense_Mutation_p.S294L NM_017566.3 NP_060036.2 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 325 breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 21 BRCA - Breast invasive adenocarcinoma(80;0.0283) GAACTCGCCCGACAGGCTCTC 0.582000 9 33 0 0 0.047766 0 0 SPG7 6687 broad.mit.edu 37 16 89603249 89603249 + Silent SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr16:89603249C>G ENST00000341316.2 + 10 1408 c.1401C>G c.(1399-1401)ctC>ctG p.L467L SPG7_ENST00000268704.2_Intron NM_199367.1 NP_955399.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 347 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) GCTCCTGTCTCACGGAGCCCA 0.582000 31 146 0 0 0.064281 0 0 IGSF1 3547 broad.mit.edu 37 X 130409627 130409627 + Missense_Mutation SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chrX:130409627G>T ENST00000370904.1 - 22 3892 c.2982C>A c.(2980-2982)caC>caA p.H994Q IGSF1_ENST00000370903.3_Missense_Mutation_p.H1008Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.H994Q|IGSF1_ENST00000361420.3_Missense_Mutation_p.H1003Q Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 1003 Ig-like C2-type 10. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding p.H1003Q(2) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 CTCCTTCTTTGTGCAGAATGT 0.527000 11 71 2.35188e-11 2.66708e-11 0.038395 1 0 SP3 6670 broad.mit.edu 37 2 174819640 174819640 + Missense_Mutation SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:174819640T>C ENST00000310015.6 - 4 2130 c.1600A>G c.(1600-1602)Ata>Gta p.I534V SP3_ENST00000455789.2_Missense_Mutation_p.I481V|SP3_ENST00000418194.2_Missense_Mutation_p.I466V NM_001172712.1|NM_003111.4 NP_001166183.1|NP_003102.1 Q02447 SP3_HUMAN Sp3 transcription factor 534 Repressor domain. negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding EWSR1/SP3(3) NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.185) TGTAGCTGTATACCAGCAGAA 0.423000 35 57 0 0 0.064281 0 0 TGS1 96764 broad.mit.edu 37 8 56699563 56699563 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr8:56699563G>A ENST00000260129.5 + 4 1583 c.1106G>A c.(1105-1107)gGa>gAa p.G369E NM_024831.6 NP_079107.6 Q96RS0 TGS1_HUMAN trimethylguanosine synthase 1 369 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) CGTAATGGAGGAACCAATGAG 0.438000 5 52 0 0 0.014758 0 0 CDH4 1002 broad.mit.edu 37 20 60511842 60511842 + Silent SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr20:60511842C>T ENST00000360469.5 + 16 2680 c.2592C>T c.(2590-2592)tcC>tcT p.S864S CDH4_ENST00000543233.1_Silent_p.S790S NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 864 adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CCTATGACTCCCTGCTGGTCT 0.637000 22 22 0 0 0.069288 0 0 APC 324 broad.mit.edu 37 5 112178407 112178407 + Missense_Mutation SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr5:112178407G>T ENST00000457016.1 + 16 7496 c.7116G>T c.(7114-7116)caG>caT p.Q2372H CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.Q2372H|APC_ENST00000257430.4_Missense_Mutation_p.Q2372H P25054 APC_HUMAN adenomatous polyposis coli 2372 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) CAGGTAGACAGATGAGCCAAC 0.403000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 14 34 1.5842e-08 1.75138e-08 0.105934 1 0 OR1E1 8387 broad.mit.edu 37 17 3301357 3301357 + Silent SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:3301357C>T ENST00000322608.2 - 1 347 c.348G>A c.(346-348)gtG>gtA p.V116V NM_003553.2 NP_003544.2 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, member 1 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(2)|lung(5) 10 AGGCCATGGCCACAAGGAGGA 0.577000 13 26 0 0 0.105934 0 0 CACNB2 783 broad.mit.edu 37 10 18439891 18439891 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr10:18439891G>A ENST00000282343.8 + 2 338 c.116G>A c.(115-117)aGt>aAt p.S39N CACNB2_ENST00000352115.6_Missense_Mutation_p.S67N|CACNB2_ENST00000467034.1_3'UTR|CACNB2_ENST00000377328.1_Missense_Mutation_p.S67N|CACNB2_ENST00000377331.2_Missense_Mutation_p.S39N|CACNB2_ENST00000324631.7_Missense_Mutation_p.S67N NM_001167945.1|NM_201571.3 NP_001161417.1|NP_963865.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 67 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) ACCTCAAATAGTTTTGTTCGC 0.313000 8 78 0 0 0.093190 0 0 QSOX1 5768 broad.mit.edu 37 1 180165521 180165521 + Silent SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:180165521C>G ENST00000367602.3 + 12 1667 c.1593C>G c.(1591-1593)ctC>ctG p.L531L QSOX1_ENST00000367600.5_Silent_p.L531L O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 531 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 TCAACTTCCTCAAGGCCCACT 0.617000 62 140 0 0 0.048971 0 0 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:7577094G>A ENST00000420246.2 - 8 976 c.844C>T c.(844-846)Cgg>Tgg p.R282W TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 282 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCTGTGCGCCGGTCTCTCCCA 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 16 32 0 0 0.024245 0 0 ADCY4 196883 broad.mit.edu 37 14 24789048 24789048 + Nonsense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr14:24789048G>C ENST00000310677.4 - 22 2746 c.2633C>G c.(2632-2634)tCa>tGa p.S878* ADCY4_ENST00000418030.2_Nonsense_Mutation_p.S878*|ADCY4_ENST00000554068.2_Nonsense_Mutation_p.S878* NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 878 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) GTCTGGGACTGAGGCGAAGAG 0.493000 6 76 0 0 0.038147 0 0 BAHD1 22893 broad.mit.edu 37 15 40750963 40750963 + Silent SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr15:40750963C>G ENST00000561234.1 + 2 559 c.300C>G c.(298-300)ccC>ccG p.P100P BAHD1_ENST00000416165.1_Silent_p.P100P|BAHD1_ENST00000560846.1_Silent_p.P100P Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 100 heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) CCAAGCCCCCCAGCCCGGCCC 0.657000 4 41 0 0 0.009096 0 0 PTPN4 5775 broad.mit.edu 37 2 120712858 120712858 + Missense_Mutation SNP G G T rs143331305 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:120712858G>T ENST00000263708.2 + 20 2710 c.1939G>T c.(1939-1941)Gct>Tct p.A647S PTPN4_ENST00000544261.1_Missense_Mutation_p.A280S NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 647 cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) GATCCAGCTAGCTGAGGGGCT 0.403000 10 36 6.40141e-05 6.73833e-05 0.080935 1 0 DOCK2 1794 broad.mit.edu 37 5 169144446 169144446 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr5:169144446A>G ENST00000256935.8 + 21 2170 c.2090A>G c.(2089-2091)gAg>gGg p.E697G DOCK2_ENST00000520908.1_Missense_Mutation_p.E189G|DOCK2_ENST00000540750.1_5'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 697 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACCGTTCTGGAGGCTTACATC 0.463000 7 137 0 0 0.058154 0 0 MIS18BP1 55320 broad.mit.edu 37 14 45679696 45679696 + Missense_Mutation SNP A A T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr14:45679696A>T ENST00000310806.4 - 14 3497 c.3039T>A c.(3037-3039)gaT>gaA p.D1013E NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 1013 Poly-Asp. cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 TTGGCAGAATATCATCATCAT 0.373000 14 97 0 0 0.020292 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30722697 30722697 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr22:30722697G>A ENST00000215790.7 - 1 338 c.174C>T c.(172-174)ttC>ttT p.F58F TBC1D10A_ENST00000490449.1_5'UTR|TBC1D10A_ENST00000403477.3_Silent_p.F58F NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 58 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CGATGAAGCCGAACTTGTCGA 0.726000 10 24 0 0 0.058154 0 0 TMBIM6 7009 broad.mit.edu 37 12 50135944 50135944 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr12:50135944G>C ENST00000423828.1 + 1 353 c.25G>C c.(25-27)Gag>Cag p.E9Q TMBIM6_ENST00000267115.5_Intron|TMBIM6_ENST00000549385.1_Intron|TMBIM6_ENST00000552699.1_Missense_Mutation_p.E9Q NM_001098576.1 NP_001092046.1 P55061 BI1_HUMAN transmembrane BAX inhibitor motif containing 6 0 apoptosis|negative regulation of apoptosis endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus p.E9Q(1) lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 6 TGTGACACGCGAGGCTCCTCA 0.682000 12 5 0 0 0.080935 0 0 KIAA1429 25962 broad.mit.edu 37 8 95507153 95507153 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr8:95507153C>T ENST00000297591.5 - 20 4651 c.4576G>A c.(4576-4578)Gat>Aat p.D1526N KIAA1429_ENST00000437199.1_3'UTR NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1526 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TTCAACTGATCATCCATGACA 0.318000 6 291 0 0 0.038147 0 0 STAMBPL1 57559 broad.mit.edu 37 10 90682924 90682924 + Splice_Site SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr10:90682924G>C ENST00000371926.3 + 11 2212 c.e11-1 STAMBPL1_ENST00000371924.1_Splice_Site|STAMBPL1_ENST00000371922.1_Splice_Site|STAMBPL1_ENST00000371927.3_Intron NM_020799.3 NP_065850.1 Q96FJ0 STALP_HUMAN STAM binding protein-like 1 metal ion binding|metallopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1) 11 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) TTCTTTCCTAGATATGCAAAC 0.313000 6 20 0 0 0.021553 0 0 CPXM2 119587 broad.mit.edu 37 10 125526664 125526664 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr10:125526664G>A ENST00000241305.3 - 10 1458 c.1304C>T c.(1303-1305)tCg>tTg p.S435L CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 435 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) TCCCAGCTCCGAGCCCTGGAG 0.552000 21 22 0 0 0.076483 0 0 ZNF208 7757 broad.mit.edu 37 19 22157311 22157311 + Missense_Mutation SNP A A C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:22157311A>C ENST00000397126.4 - 4 673 c.525T>G c.(523-525)tgT>tgG p.C175W ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CGTATTCTTTACATTGCAAAT 0.328000 8 41 0 0 0.038147 0 0 ALPK2 115701 broad.mit.edu 37 18 56184167 56184167 + Silent SNP G G T rs61732436 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr18:56184167G>T ENST00000361673.3 - 9 6126 c.5913C>A c.(5911-5913)atC>atA p.I1971I NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1971 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 AGTTCCTTTGGATGAGCTCAT 0.502000 18 73 2.37509e-13 2.72146e-13 0.055883 1 0 MPP3 4356 broad.mit.edu 37 17 41888554 41888554 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:41888554C>G ENST00000398393.1 - 15 1610 c.1350G>C c.(1348-1350)aaG>aaC p.K450N MPP3_ENST00000398389.4_Missense_Mutation_p.K425N Q13368 MPP3_HUMAN membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) 425 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane guanylate kinase activity endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) TCTCATGGCTCTTTCGGGGCC 0.488000 12 47 0 0 0.105934 0 0 TTC30A 92104 broad.mit.edu 37 2 178482633 178482633 + Missense_Mutation SNP T T A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:178482633T>A ENST00000355689.4 - 1 1061 c.797A>T c.(796-798)aAc>aTc p.N266I AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 266 cell projection organization cilium binding autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) TACCTCATAGTTTCTCAGTTG 0.507000 40 80 0 0 0.111260 0 0 IZUMO4 113177 broad.mit.edu 37 19 2096977 2096977 + Silent SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:2096977G>T ENST00000395307.2 + 1 598 c.33G>T c.(31-33)acG>acT p.T11T IZUMO4_ENST00000395296.1_Silent_p.T11T|IZUMO4_ENST00000395301.3_Silent_p.T11T NM_001031735.2 NP_001026905.2 Q1ZYL8 IZUM4_HUMAN IZUMO family member 4 11 extracellular region central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 6 TGTGCCTGACGGCGGCGCTGG 0.672000 OREG0025135 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 61 0.000978159 0.00100558 0.080935 1 0 ADAM17 6868 broad.mit.edu 37 2 9666273 9666273 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:9666273G>A ENST00000310823.3 - 6 902 c.720C>T c.(718-720)ggC>ggT p.G240G ADAM17_ENST00000497134.1_Silent_p.G240G NM_003183.4 NP_003174.3 P78536 ADA17_HUMAN ADAM metallopeptidase domain 17 240 Peptidase M12B. B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 28 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) CTTCCCCTCTGCCCATGTATC 0.383000 66 111 0 0 0.048971 0 0 RIPK1 8737 broad.mit.edu 37 6 3105891 3105891 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr6:3105891G>C ENST00000259808.4 + 9 1480 c.1182G>C c.(1180-1182)caG>caC p.Q394H RIPK1_ENST00000380409.2_Missense_Mutation_p.Q394H|RIPK1_ENST00000541791.1_Missense_Mutation_p.Q348H|RIPK1_ENST00000479389.1_3'UTR Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine kinase 1 394 Interaction with SQSTM1. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 Ovarian(93;0.0386) all_hematologic(90;0.0895) TGGACAGGCAGACGAAACAGC 0.532000 26 65 0 0 0.091800 0 0 FAM188B 84182 broad.mit.edu 37 7 30818091 30818091 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr7:30818091G>A ENST00000265299.6 + 2 184 c.107G>A c.(106-108)cGc>cAc p.R36H INMT-FAM188B_ENST00000458257.1_3'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 36 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GAACGCCCACGCTCTGACCTC 0.438000 15 62 0 0 0.024245 0 0 GRIK3 2899 broad.mit.edu 37 1 37337827 37337827 + Missense_Mutation SNP C C T rs143358361 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:37337827C>T ENST00000373091.3 - 4 710 c.694G>A c.(694-696)Gac>Aac p.D232N GRIK3_ENST00000373093.4_Missense_Mutation_p.D232N NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 232 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity p.D232N(1) breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TGGCTGCAGTCGAAGATAATG 0.612000 4 22 0 0 0.009096 0 0 PDE12 201626 broad.mit.edu 37 3 57542169 57542169 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr3:57542169G>A ENST00000311180.8 + 1 166 c.63G>A c.(61-63)ctG>ctA p.L21L PDE12_ENST00000487257.1_Silent_p.L21L NM_177966.5 NP_808881.3 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 21 hydrolase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) TGGAGAAGCTGAGCCGGGCTG 0.692000 5 9 0 0 0.058154 0 0 PSME4 23198 broad.mit.edu 37 2 54155437 54155437 + Silent SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:54155437T>C ENST00000404125.1 - 11 1375 c.1320A>G c.(1318-1320)acA>acG p.T440T PSME4_ENST00000421748.2_Intron NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 440 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) ATGCAGGATATGTTCTACAGT 0.353000 4 24 0 0 0.009096 0 0 GRIA1 2890 broad.mit.edu 37 5 153085627 153085627 + Splice_Site SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr5:153085627G>A ENST00000285900.5 + 11 2166 c.1823_splice c.e11+1 p.R608_splice GRIA1_ENST00000340592.5_Splice_Site_p.R608_splice|GRIA1_ENST00000448073.4_Splice_Site_p.R618_splice|GRIA1_ENST00000521843.2_Splice_Site_p.R539_splice|GRIA1_ENST00000518783.1_Splice_Site_p.R618_splice|GRIA1_ENST00000518142.1_Splice_Site_p.R528_splice NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 608 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ATTTCTCCCAGGTCAGTCAGC 0.403000 31 22 0 0 0.074837 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616773 77616773 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr8:77616773G>C ENST00000521891.2 + 2 898 c.450G>C c.(448-450)caG>caC p.Q150H ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q150H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q150H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q150H|ZFHX4_ENST00000517683.1_Intron NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 150 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAAGTGGGCAGAATGCACAGA 0.488000 HNSCC(33;0.089) 27 21 0 0 0.099896 0 0 ZZEF1 23140 broad.mit.edu 37 17 3961378 3961378 + Missense_Mutation SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:3961378T>C ENST00000381638.2 - 32 5199 c.5075A>G c.(5074-5076)aAt>aGt p.N1692S NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1692 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GGCGAGATCATTGGGTTCCCA 0.458000 10 23 0 0 0.058154 0 0 ESPL1 9700 broad.mit.edu 37 12 53663848 53663848 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr12:53663848G>A ENST00000257934.4 + 3 1213 c.1122G>A c.(1120-1122)ctG>ctA p.L374L ESPL1_ENST00000552462.1_Silent_p.L374L NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 374 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 GCTCTCTTCTGCAGCAGCTGC 0.537000 23 11 0 0 0.076483 0 0 ROS1 6098 broad.mit.edu 37 6 117681060 117681060 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr6:117681060A>G ENST00000368508.3 - 23 3758 c.3560T>C c.(3559-3561)gTt>gCt p.V1187A GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.V1182A NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1187 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TGTGTAGCAAACGGCACTGAT 0.403000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 13 83 0 0 0.093190 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183231 39183231 + Silent SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:39183231A>G ENST00000361883.5 - 1 223 c.177T>C c.(175-177)agT>agC p.S59S NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 59 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCTGGCAGCAACTGGAGCTGC 0.617000 4 53 0 0 0.014758 0 0 SEMA3A 10371 broad.mit.edu 37 7 83610760 83610760 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr7:83610760G>A ENST00000265362.3 - 14 1843 c.1529C>T c.(1528-1530)gCc>gTc p.A510V SEMA3A_ENST00000436949.1_Missense_Mutation_p.A510V NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 510 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 AGGGAGCTGGGCAACCCCAGC 0.453000 6 25 0 0 0.021553 0 0 FZD1 8321 broad.mit.edu 37 7 90895581 90895581 + Silent SNP C C T rs150597135 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr7:90895581C>T ENST00000287934.2 + 1 1799 c.1386C>T c.(1384-1386)atC>atT p.I462I NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 462 autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) CCATCACCATCCTGGCGCTGG 0.647000 27 86 0 0 0.108266 0 0 CD96 10225 broad.mit.edu 37 3 111296359 111296359 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr3:111296359G>C ENST00000283285.5 + 4 685 c.554G>C c.(553-555)aGc>aCc p.S185T CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron NM_198196.2 NP_937839.1 P40200 TACT_HUMAN CD96 molecule 185 Ig-like V-type 2. cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 GAAAACAGCAGCACGGATTCT 0.423000 Opitz Trigonocephaly syndrome 62 331 0 0 0.048971 0 0 MSLNL 401827 broad.mit.edu 37 16 825511 825511 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr16:825511G>C ENST00000293892.3 - 5 1249 c.1250C>G c.(1249-1251)tCt>tGt p.S417C MSLNL_ENST00000442466.1_Intron Q96KJ4 MSLNL_HUMAN mesothelin-like 115 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 GAGCTGGGCAGAACGGCGCTC 0.682000 6 14 0 0 0.029380 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55046878 55046878 + Silent SNP C C A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:55046878C>A ENST00000335056.3 + 4 461 c.423C>A c.(421-423)cgC>cgA p.R141R KIR3DX1_ENST00000482404.1_3'UTR endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) TGAGCCTGCGCTGTCACTCAG 0.537000 30 30 7.65355e-07 8.29449e-07 0.050027 1 0 PAPPA2 60676 broad.mit.edu 37 1 176668354 176668354 + Silent SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:176668354G>T ENST00000367662.3 + 8 4029 c.2865G>T c.(2863-2865)ctG>ctT p.L955L NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 955 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GCTTGGAGCTGCTCTTCCAAC 0.592000 25 126 2.79863e-10 3.12538e-10 0.099896 1 0 KY 339855 broad.mit.edu 37 3 134323141 134323141 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr3:134323141G>A ENST00000508956.1 - 10 1260 c.1203C>T c.(1201-1203)tcC>tcT p.S401S KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.S422S Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 422 cytoskeleton|Z disc peptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2) 21 TGTAGATGTCGGAGTTGCCCT 0.562000 8 60 0 0 0.038147 0 0 SLC2A9 56606 broad.mit.edu 37 4 9828063 9828063 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr4:9828063G>A ENST00000506583.1 - 14 1711 c.1494C>T c.(1492-1494)atC>atT p.I498I SLC2A9_ENST00000264784.3_Silent_p.I527I|SLC2A9_ENST00000309065.3_Silent_p.I498I Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 527 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity p.I498I(1)|p.I527I(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 CAGCTGAGTCGATTTTCTCTT 0.423000 40 77 0 0 0.042209 0 0 APC 324 broad.mit.edu 37 5 112178579 112178579 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr5:112178579G>C ENST00000457016.1 + 16 7668 c.7288G>C c.(7288-7290)Gat>Cat p.D2430H CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.D2430H|APC_ENST00000257430.4_Missense_Mutation_p.D2430H P25054 APC_HUMAN adenomatous polyposis coli 2430 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AAGTGAATCTGATAGATCAGA 0.373000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 17 34 0 0 0.049695 0 0 HR 55806 broad.mit.edu 37 8 21973860 21973860 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr8:21973860G>A ENST00000381418.4 - 18 4940 c.3460C>T c.(3460-3462)Cac>Tac p.H1154Y HR_ENST00000312841.8_Missense_Mutation_p.H1099Y NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 1154 JmjC. DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GGTCCCTGGTGGCAGAGCTGA 0.647000 11 13 0 0 0.069234 0 0 FDX1L 112812 broad.mit.edu 37 19 10426650 10426650 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:10426650C>T ENST00000452032.2 - 1 35 c.23G>A c.(22-24)gGa>gAa p.G8E FDX1L_ENST00000494368.1_5'UTR|FDX1L_ENST00000393708.3_Missense_Mutation_p.G8E|FDX1L_ENST00000541276.1_Missense_Mutation_p.G11E|CTD-2369P2.12_ENST00000586529.1_Intron ACTCACGCCTCCCCGGGCCAT 0.662000 3 13 0 0 0.004672 0 0 C10orf71 118461 broad.mit.edu 37 10 50532323 50532323 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr10:50532323C>T ENST00000374144.3 + 3 2021 c.1733C>T c.(1732-1734)gCt>gTt p.A578V C10orf71_ENST00000323868.4_Missense_Mutation_p.A578V Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 578 endometrium(1) 1 GACCCTACAGCTGACCCCAGT 0.547000 14 8 0 0 0.020292 0 0 ESF1 51575 broad.mit.edu 37 20 13753183 13753183 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr20:13753183C>T ENST00000202816.1 - 5 1335 c.1228G>A c.(1228-1230)Gaa>Aaa p.E410K NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 410 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 GGGGCATCTTCAGGAATACTT 0.343000 17 904 0 0 0.024245 0 0 ENTPD6 955 broad.mit.edu 37 20 25199204 25199204 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr20:25199204G>A ENST00000360031.2 + 10 1076 c.894G>A c.(892-894)ctG>ctA p.L298L ENTPD6_ENST00000433259.2_Silent_p.L299L|ENTPD6_ENST00000354989.5_Silent_p.L282L|ENTPD6_ENST00000376652.4_Silent_p.L299L NM_001247.2 NP_001238.2 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 (putative) 299 Golgi membrane|integral to membrane nucleoside-diphosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 GGCTCGGGCTGATGTCGGCAC 0.657000 6 9 0 0 0.038147 0 0 PNLIP 5406 broad.mit.edu 37 10 118306919 118306919 + Missense_Mutation SNP C C T rs142749694 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr10:118306919C>T ENST00000369221.2 + 3 188 c.160C>T c.(160-162)Cgc>Tgc p.R54C PNLIP_ENST00000470562.1_3'UTR NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 54 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity p.R54C(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TGTCAACACCCGCTTCCTCCT 0.468000 35 16 0 0 0.074837 0 0 MPZL1 9019 broad.mit.edu 37 1 167757121 167757121 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:167757121C>T ENST00000359523.2 + 6 975 c.773C>T c.(772-774)tCa>tTa p.S258L MPZL1_ENST00000403379.3_3'UTR|MPZL1_ENST00000392121.3_Missense_Mutation_p.S108L NM_003953.5|NM_024569.4 NP_003944.1|NP_078845.3 O95297 MPZL1_HUMAN myelin protein zero-like 1 258 cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane protein binding|structural molecule activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2) 15 all_hematologic(923;0.215) ATTAACAAGTCAGAGTCTGTG 0.438000 24 30 0 0 0.083992 0 0 PHKA2 5256 broad.mit.edu 37 X 18912411 18912411 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chrX:18912411G>A ENST00000379942.4 - 32 4113 c.3448C>T c.(3448-3450)Ctc>Ttc p.L1150F PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 1150 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) GTGTCCGAGAGCAGCGTCAGC 0.612000 28 12 0 0 0.108266 0 0 GDF11 10220 broad.mit.edu 37 12 56143303 56143303 + Silent SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr12:56143303T>C ENST00000257868.5 + 3 898 c.861T>C c.(859-861)ctT>ctC p.L287L NM_005811.3 NP_005802.1 O95390 GDF11_HUMAN growth differentiation factor 11 287 growth|mesoderm development|skeletal system development extracellular space cytokine activity|growth factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1) 12 TCATGGAGCTTCGAGTCCTAG 0.572000 3 64 0 0 0.014758 0 0 ASPM 259266 broad.mit.edu 37 1 197071233 197071233 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:197071233C>G ENST00000367409.4 - 18 7404 c.7148G>C c.(7147-7149)aGa>aCa p.R2383T ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2383 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 GTGTCTTTGTCTGAGATAATG 0.433000 37 151 0 0 0.086207 0 0 CD2BP2 10421 broad.mit.edu 37 16 30364880 30364880 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr16:30364880G>A ENST00000305596.3 - 5 792 c.617C>T c.(616-618)gCc>gTc p.A206V CD2BP2_ENST00000569466.1_Missense_Mutation_p.A206V NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 206 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 CATCTGGTCGGCCAACCCGGA 0.657000 3 22 0 0 0.009096 0 0 ESF1 51575 broad.mit.edu 37 20 13698017 13698017 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr20:13698017C>G ENST00000202816.1 - 13 2367 c.2260G>C c.(2260-2262)Gag>Cag p.E754Q NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 754 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 ATGGTTACCTCAAAGTCATCC 0.378000 20 965 0 0 0.033300 0 0 APC 324 broad.mit.edu 37 5 112177885 112177885 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr5:112177885G>C ENST00000457016.1 + 16 6974 c.6594G>C c.(6592-6594)ttG>ttC p.L2198F CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.L2198F|APC_ENST00000257430.4_Missense_Mutation_p.L2198F P25054 APC_HUMAN adenomatous polyposis coli 2198 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) ATAAAAGTTTGATTACTGGAA 0.358000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 13 36 0 0 0.093190 0 0 MACF1 23499 broad.mit.edu 37 1 39797559 39797559 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:39797559G>A ENST00000564288.1 + 37 6076 c.5299G>A c.(5299-5301)Gaa>Aaa p.E1767K MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.E1804K|MACF1_ENST00000372915.3_Missense_Mutation_p.E1772K|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.E207K Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1772 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCGGTTGCTGGAAGCTCAGCT 0.498000 11 35 0 0 0.080935 0 0 DNAH2 146754 broad.mit.edu 37 17 7667311 7667311 + Silent SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:7667311C>G ENST00000572933.1 + 19 4601 c.3141C>G c.(3139-3141)ctC>ctG p.L1047L DNAH2_ENST00000389173.2_Silent_p.L1047L Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1047 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTGGGCGCCTCCTGGAGCTGC 0.622000 7 49 0 0 0.038147 0 0 CNNM3 26505 broad.mit.edu 37 2 97490833 97490833 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:97490833G>A ENST00000305510.3 + 2 1292 c.1264G>A c.(1264-1266)Gag>Aag p.E422K CNNM3_ENST00000377060.3_Intron|ANKRD23_ENST00000476975.1_Intron NM_017623.4 NP_060093.3 Q8NE01 CNNM3_HUMAN cyclin M3 422 CBS 2. ion transport integral to membrane|plasma membrane protein binding NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2) 13 GGTGAACAACGAGGGTGAAGG 0.602000 6 34 0 0 0.038147 0 0 TNFAIP6 7130 broad.mit.edu 37 2 152226720 152226720 + Missense_Mutation SNP A A C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:152226720A>C ENST00000243347.3 + 4 656 c.581A>C c.(580-582)gAa>gCa p.E194A NM_007115.3 NP_009046.2 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 194 CUB. cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.131) GATTATGTTGAAATATATGAC 0.413000 32 166 0 0 0.069456 0 0 ITGA3 3675 broad.mit.edu 37 17 48145541 48145541 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:48145541C>G ENST00000320031.8 + 4 866 c.536C>G c.(535-537)aCc>aGc p.T179S ITGA3_ENST00000544892.1_Intron|ITGA3_ENST00000007722.7_Missense_Mutation_p.T179S NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 179 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 GACTGGCAGACCTACCACAAC 0.582000 8 85 0 0 0.038147 0 0 IL4I1 259307 broad.mit.edu 37 19 50399101 50399101 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:50399101C>T ENST00000595948.1 - 5 909 c.289G>A c.(289-291)Gcc>Acc p.A97T IL4I1_ENST00000391826.2_Missense_Mutation_p.A75T|IL4I1_ENST00000341114.3_Missense_Mutation_p.A97T NM_001258018.1 NP_001244947.1 Q96RQ9 OXLA_HUMAN interleukin 4 induced 1 75 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) AGCACCTTGGCGGCCACCAGC 0.637000 12 116 0 0 0.024245 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457598 45457598 + RNA SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr12:45457598G>A ENST00000548424.1 + 0 448 CTGTAACATCGTCACTGGTTC 0.502000 7 19 0 0 0.029380 0 0 CORO1B 57175 broad.mit.edu 37 11 67208498 67208498 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr11:67208498G>A ENST00000453768.2 - 6 924 c.854C>T c.(853-855)tCt>tTt p.S285F CORO1B_ENST00000341356.5_Intron|CORO1B_ENST00000393893.1_Intron Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 0 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) TCCAGGCAGAGAAGCTAGGAA 0.657000 5 20 0 0 0.021553 0 0 HIVEP1 3096 broad.mit.edu 37 6 12122650 12122650 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr6:12122650C>G ENST00000379388.2 + 4 2954 c.2622C>G c.(2620-2622)ttC>ttG p.F874L NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 874 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TTGGCACTTTCTATGATGATG 0.473000 24 134 0 0 0.083992 0 0 C16orf11 146325 broad.mit.edu 37 16 615181 615181 + Silent SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr16:615181C>G ENST00000409413.3 + 3 1869 c.1590C>G c.(1588-1590)ctC>ctG p.L530L NM_145270.2 NP_660313.1 P0CG20 CP011_HUMAN chromosome 16 open reading frame 11 530 central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 CCCCAGGGCTCCCCCTCGCAG 0.692000 11 16 0 0 0.020292 0 0 OLA1 29789 broad.mit.edu 37 2 175006625 175006625 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr2:175006625C>T ENST00000284719.3 - 5 723 c.477G>A c.(475-477)atG>atA p.M159I OLA1_ENST00000428402.2_Missense_Mutation_p.M159I|OLA1_ENST00000409546.1_Missense_Mutation_p.M179I|OLA1_ENST00000344357.5_Start_Codon_SNP_p.M1I NM_013341.3 NP_037473.3 Q9NTK5 OLA1_HUMAN Obg-like ATPase 1 159 ATP catabolic process cytoplasm ATP binding|GTP binding|hydrolase activity|protein binding breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 TGGGCCCAATCATTTCCTCAT 0.343000 16 87 0 0 0.033300 0 0 BCAM 4059 broad.mit.edu 37 19 45316587 45316587 + Silent SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr19:45316587C>G ENST00000391955.1 + 5 629 c.585C>G c.(583-585)ccC>ccG p.P195P BCAM_ENST00000270233.6_Silent_p.P195P P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 195 Ig-like V-type 2. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) TGGAGGTGCCCGTAGAGATGA 0.687000 18 41 0 0 0.049695 0 0 ORC2 4999 broad.mit.edu 37 2 201798698 201798698 + Splice_Site SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr2:201798698C>T ENST00000234296.2 - 10 958 c.e10-1 NM_006190.4 NP_006181.1 Q13416 ORC2_HUMAN origin recognition complex, subunit 2 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 20 CTAAGTCACTCTGAAAGTGAA 0.348000 14 73 0 0 0.020292 0 0 BRAF 673 broad.mit.edu 37 7 140501295 140501295 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr7:140501295G>C ENST00000288602.6 - 6 837 c.777C>G c.(775-777)ttC>ttG p.F259L NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 259 activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TTTGACAGCGGAAACCCTGGA 0.358000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 5 31 0 0 0.014758 0 0 BRCA2 675 broad.mit.edu 37 13 32913203 32913203 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr13:32913203G>A ENST00000544455.1 + 11 4938 c.4711G>A c.(4711-4713)Gag>Aag p.E1571K BRCA2_ENST00000380152.3_Missense_Mutation_p.E1571K NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 1571 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AAAGTACAGAGAGGCCTGTAA 0.383000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 45 31 0 0 0.048971 0 0 ATP2C1 27032 broad.mit.edu 37 3 130715584 130715584 + Silent SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr3:130715584C>G ENST00000510168.1 + 24 2737 c.2187C>G c.(2185-2187)ctC>ctG p.L729L ATP2C1_ENST00000508532.1_Silent_p.L729L|ATP2C1_ENST00000507488.2_Silent_p.L713L|ATP2C1_ENST00000505330.1_Silent_p.L713L|ATP2C1_ENST00000504948.1_Silent_p.L713L|ATP2C1_ENST00000504381.1_Silent_p.L674L|ATP2C1_ENST00000428331.2_Silent_p.L729L|ATP2C1_ENST00000422190.2_Silent_p.L729L|ATP2C1_ENST00000393221.4_Silent_p.L763L|ATP2C1_ENST00000359644.3_Silent_p.L729L|ATP2C1_ENST00000328560.8_Silent_p.L729L|ATP2C1_ENST00000513801.1_Silent_p.L713L|ATP2C1_ENST00000533801.2_Silent_p.L724L P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 729 actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) CTAATCCTCTCAATGCCATGC 0.363000 Hailey-Hailey disease 35 85 0 0 0.059317 0 0 PPL 5493 broad.mit.edu 37 16 4934903 4934903 + Silent SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr16:4934903G>C ENST00000345988.2 - 22 3842 c.3753C>G c.(3751-3753)ctC>ctG p.L1251L PPL_ENST00000590782.2_Silent_p.L1249L NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1251 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TCTCCTCCCTGAGCCGCTGAA 0.522000 14 59 0 0 0.024245 0 0 WDR47 22911 broad.mit.edu 37 1 109554140 109554140 + Silent SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr1:109554140G>T ENST00000357672.3 - 4 819 c.444C>A c.(442-444)atC>atA p.I148I WDR47_ENST00000361054.3_Silent_p.I148I|WDR47_ENST00000400794.3_Silent_p.I183I|WDR47_ENST00000369962.3_Silent_p.I176I|WDR47_ENST00000369965.4_Silent_p.I176I O94967 WDR47_HUMAN WD repeat domain 47 176 breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) TATCAGCAGGGATGAATTCTG 0.443000 42 100 6.45866e-13 7.19871e-13 0.104719 1 0 LRRC8A 56262 broad.mit.edu 37 9 131669481 131669481 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr9:131669481C>T ENST00000259324.5 + 3 561 c.38C>T c.(37-39)aCg>aTg p.T13M LRRC8A_ENST00000372600.4_Missense_Mutation_p.T13M|LRRC8A_ENST00000372599.3_Missense_Mutation_p.T13M NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 13 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 TTTGCGGACACGCAGCCAGCA 0.567000 9 20 0 0 0.047766 0 0 NBR1 4077 broad.mit.edu 37 17 41347008 41347008 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr17:41347008A>G ENST00000422280.1 + 14 2161 c.1702A>G c.(1702-1704)Ata>Gta p.I568V NBR1_ENST00000589872.1_Missense_Mutation_p.I568V|NBR1_ENST00000542611.1_Missense_Mutation_p.I547V|NBR1_ENST00000389312.4_Missense_Mutation_p.I568V|NBR1_ENST00000590996.1_Missense_Mutation_p.I568V|NBR1_ENST00000341165.6_Missense_Mutation_p.I568V NM_031858.2 NP_114064.1 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 568 ATG8 family protein-binding. macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) GCTGTTGGATATAAACATTGT 0.438000 8 26 0 0 0.047766 0 0 KCNV1 27012 broad.mit.edu 37 8 110984685 110984685 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr8:110984685G>A ENST00000524391.1 - 3 1825 c.793C>T c.(793-795)Cgg>Tgg p.R265W KCNV1_ENST00000297404.1_Missense_Mutation_p.R265W Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 265 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) CACCTGTCCCGCACACACAGG 0.532000 38 46 0 0 0.086207 0 0 CACYBP 27101 broad.mit.edu 37 1 174977767 174977767 + Missense_Mutation SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr1:174977767T>C ENST00000367681.2 + 5 966 c.326T>C c.(325-327)aTa>aCa p.I109T CACYBP_ENST00000405362.1_Missense_Mutation_p.I109T|CACYBP_ENST00000367679.2_Missense_Mutation_p.I152T NM_001007214.1 NP_001007215.1 Q9HB71 CYBP_HUMAN calcyclin binding protein 152 CS.|Interaction with SKP1. beta-catenin destruction complex protein homodimerization activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1) 11 ACAGTTCTTATATTGTGTAGA 0.338000 51 36 0 0 0.048971 0 0 CREB3L3 84699 broad.mit.edu 37 19 4171169 4171169 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr19:4171169C>T ENST00000602147.1 + 7 945 c.865C>T c.(865-867)Cgc>Tgc p.R289C CREB3L3_ENST00000602257.1_Silent_p.V322V|CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000078445.2_Silent_p.V324V|CREB3L3_ENST00000595923.1_Silent_p.V323V Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 3 0 Leucine-zipper. response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) GCACCTGTGTCGCAGTGAGTC 0.602000 21 23 0 0 0.062417 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19315939 19315939 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr8:19315939G>A ENST00000454498.2 - 5 1862 c.849C>T c.(847-849)ttC>ttT p.F283F CSGALNACT1_ENST00000544602.1_Silent_p.F283F|CSGALNACT1_ENST00000332246.6_Silent_p.F283F|CSGALNACT1_ENST00000522854.1_Silent_p.F283F|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000311540.4_Silent_p.F283F NM_001130518.1 NP_001123990.1 Q8TDX6 CGAT1_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 1 283 anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(111;0.182) AAACCAACCTGAAATTCTGCA 0.443000 46 141 0 0 0.045515 0 0 TRAV8-2 28684 broad.mit.edu 37 14 22315378 22315378 + RNA SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr14:22315378G>T ENST00000390434.3 + 0 541 GAGCGACGCGGCTGAGTACTT 0.507000 31 39 8.16721e-17 9.24753e-17 0.045705 1 0 GALNT11 63917 broad.mit.edu 37 7 151798008 151798008 + Splice_Site SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr7:151798008T>C ENST00000434507.1 + 5 856 c.e5+2 GALNT11_ENST00000415421.1_Splice_Site|GALNT11_ENST00000482812.1_Intron|GALNT11_ENST00000422997.2_Intron|GALNT11_ENST00000452146.2_Splice_Site|GALNT11_ENST00000320311.2_Splice_Site|GALNT11_ENST00000430044.2_Splice_Site Q8NCW6 GLT11_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) GAATGCAGCGTATGTGCCTTA 0.448000 3 123 0 0 0.004672 0 0 CACNA1D 776 broad.mit.edu 37 3 53834348 53834348 + Nonsense_Mutation SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr3:53834348G>T ENST00000288139.3 + 42 5174 c.5056G>T c.(5056-5058)Gag>Tag p.E1686* CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.E1651*|CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.E1666*|CACNA1D_ENST00000544977.1_Nonsense_Mutation_p.E45* NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1666 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GCAAGATGACGAGCCTGAGGA 0.463000 20 45 1.33834e-09 1.46874e-09 0.043863 1 0 HOXC4 3221 broad.mit.edu 37 12 54448755 54448755 + Silent SNP C C A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr12:54448755C>A ENST00000430889.2 + 2 607 c.561C>A c.(559-561)atC>atA p.I187I HOXC4_ENST00000303406.4_Silent_p.I187I NM_153633.2 NP_705897.1 P09017 HXC4_HUMAN homeobox C4 187 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 13 GGAGAAGGATCGAGATCGCCC 0.537000 13 8 3.45872e-05 3.62826e-05 0.028581 1 0 PRRC2C 23215 broad.mit.edu 37 1 171509614 171509614 + Silent SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr1:171509614A>G ENST00000367742.3 + 16 3251 c.3009A>G c.(3007-3009)agA>agG p.R1003R PRRC2C_ENST00000426496.2_Silent_p.R1001R|PRRC2C_ENST00000392078.3_Silent_p.R1003R|PRRC2C_ENST00000338920.4_Silent_p.R1001R Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 1001 protein C-terminus binding GCTCTAACAGAAGGGAAGAAG 0.403000 6 14 0 0 0.021553 0 0 PF4 5196 broad.mit.edu 37 4 74846999 74846999 + Silent SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr4:74846999C>T ENST00000296029.3 - 3 398 c.228G>A c.(226-228)ctG>ctA p.L76L NM_002619.3 NP_002610.1 P02776 PLF4_HUMAN platelet factor 4 76 cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production extracellular space|platelet alpha granule lumen chemokine activity|heparin binding kidney(1)|lung(1) 2 Breast(15;0.00136) all cancers(17;0.0034)|Lung(101;0.196) Drotrecogin alfa(DB00055) TTCCATTCTTCAGCGTGGCTC 0.488000 9 87 0 0 0.069234 0 0 KIAA1432 57589 broad.mit.edu 37 9 5763371 5763371 + Missense_Mutation SNP C C A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr9:5763371C>A ENST00000414202.2 + 19 2535 c.2344C>A c.(2344-2346)Ctg>Atg p.L782M KIAA1432_ENST00000449720.2_Missense_Mutation_p.L666M|KIAA1432_ENST00000381532.2_Missense_Mutation_p.L703M|KIAA1432_ENST00000418622.3_Missense_Mutation_p.L703M|KIAA1432_ENST00000251879.6_Missense_Mutation_p.L782M NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 782 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) GCTAGCTGTTCTGTTTGAAGA 0.478000 47 82 1.32667e-27 1.51015e-27 0.048971 1 0 GSG2 83903 broad.mit.edu 37 17 3629572 3629572 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr17:3629572G>A ENST00000325418.4 + 1 2362 c.2343G>A c.(2341-2343)atG>atA p.M781I ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron NM_031965.2 NP_114171.2 Q8TF76 HASP_HUMAN germ cell associated 2 (haspin) 781 Protein kinase. cell cycle|chromatin modification|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity ACAGGACAATGCTGAACTTCA 0.433000 11 34 0 0 0.080935 0 0 TPSAB1 7177 broad.mit.edu 37 16 1291244 1291244 + Missense_Mutation SNP A A G rs150845192 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr16:1291244A>G ENST00000461509.2 + 2 367 c.173A>G c.(172-174)cAc>cGc p.H58R TPSAB1_ENST00000338844.3_Missense_Mutation_p.H51R P20231 TRYB2_HUMAN tryptase alpha/beta 1 51 Peptidase S1. proteolysis extracellular region protein binding|serine-type endopeptidase activity p.H51R(1) NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1) 10 Hepatocellular(780;0.00369) CTGAGAGTCCACGGCCCATAC 0.711000 4 68 0 0 0.021553 0 0 ZNF462 58499 broad.mit.edu 37 9 109688481 109688481 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr9:109688481G>C ENST00000277225.5 + 3 2577 c.2288G>C c.(2287-2289)aGa>aCa p.R763T ZNF462_ENST00000457913.1_Missense_Mutation_p.R763T Q96JM2 ZN462_HUMAN zinc finger protein 462 763 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 ATATGGGTAAGAGATACCAGT 0.488000 7 30 0 0 0.029380 0 0 CCDC170 80129 broad.mit.edu 37 6 151936765 151936765 + Missense_Mutation SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr6:151936765T>C ENST00000367290.5 + 10 2008 c.1919T>C c.(1918-1920)aTg>aCg p.M640T CCDC170_ENST00000239374.7_Missense_Mutation_p.M633T Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 633 ACCAGTGAAATGAAGACACTA 0.398000 38 45 0 0 0.098360 0 0 TTN 7273 broad.mit.edu 37 2 179449963 179449963 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr2:179449963C>T ENST00000589042.1 - 309 64732 c.64508G>A c.(64507-64509)gGa>gAa p.G21503E TTN_ENST00000342992.6_Missense_Mutation_p.G18935E|TTN_ENST00000359218.5_Missense_Mutation_p.G12563E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G12438E|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G19862E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G12630E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19862 Fibronectin type-III 56. 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) TTCATCTTCTCCTTTTTTCCA 0.423000 32 189 0 0 0.050027 0 0 PAPPA2 60676 broad.mit.edu 37 1 176769219 176769219 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr1:176769219G>A ENST00000367662.3 + 21 6317 c.5153G>A c.(5152-5154)cGt>cAt p.R1718H NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1718 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.R1718H(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 ACTGGCCGGCGTCAATGGCAC 0.493000 25 86 0 0 0.037714 0 0 NET1 10276 broad.mit.edu 37 10 5498902 5498902 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr10:5498902G>A ENST00000355029.4 + 12 1878 c.1736G>A c.(1735-1737)cGa>cAa p.R579Q NET1_ENST00000542715.1_Missense_Mutation_p.R398Q|NET1_ENST00000380359.3_Missense_Mutation_p.R525Q NM_001047160.1 NP_001040625.1 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming 1 579 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1) 23 CCCGGCATCCGAAGAGCGAGG 0.493000 9 38 0 0 0.069234 0 0 HTR1E 3354 broad.mit.edu 37 6 87726086 87726086 + Missense_Mutation SNP C C A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr6:87726086C>A ENST00000305344.4 + 2 1737 c.1034C>A c.(1033-1035)aCg>aAg p.T345K HTR1E_ENST00000369584.1_Missense_Mutation_p.T345K NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 345 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CTGCTCTATACGAGTTTTAAT 0.438000 14 51 1.99824e-07 2.17067e-07 0.033300 1 0 PTPN14 5784 broad.mit.edu 37 1 214542824 214542824 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr1:214542824G>C ENST00000366956.5 - 17 3441 c.3247C>G c.(3247-3249)Cca>Gca p.P1083A PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 1083 Tyrosine-protein phosphatase. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) ACATCTTCTGGACAGCCGTGA 0.438000 37 74 0 0 0.086207 0 0 HIST1H2BD 3017 broad.mit.edu 37 6 26158508 26158508 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr6:26158508C>G ENST00000289316.2 + 1 135 c.111C>G c.(109-111)agC>agG p.S37R HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.S37R NM_138720.2 NP_619790.1 P58876 H2B1D_HUMAN histone cluster 1, H2bd 37 nucleosome assembly nucleosome|nucleus DNA binding breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 24 GCAAGGAGAGCTATTCAGTGT 0.542000 17 166 0 0 0.049695 0 0 DONSON 29980 broad.mit.edu 37 21 34950680 34950680 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr21:34950680G>C ENST00000453626.1 - 10 1493 c.1489C>G c.(1489-1491)Cgt>Ggt p.R497G DONSON_ENST00000303071.5_Missense_Mutation_p.P545R|DONSON_ENST00000303113.6_Missense_Mutation_p.P531R|DONSON_ENST00000432378.1_Missense_Mutation_p.P474R Q9NYP3 DONS_HUMAN downstream neighbor of SON 0 multicellular organismal development nucleus central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1) 11 CCCAAGTAACGGTATTTGACT 0.403000 9 71 0 0 0.058154 0 0 TAF8 129685 broad.mit.edu 37 6 42036204 42036204 + Splice_Site SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr6:42036204G>A ENST00000372977.3 + 7 657 c.637_splice c.e7-1 p.L213_splice TAF8_ENST00000494547.1_Splice_Site_p.L213_splice|TAF8_ENST00000456846.2_Splice_Site_p.L213_splice|TAF8_ENST00000372982.4_Splice_Site_p.L213_splice|TAF8_ENST00000465926.1_Intron NM_138572.2 NP_612639.2 Q7Z7C8 TAF8_HUMAN TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa 213 cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent perinuclear region of cytoplasm|transcription factor TFIID complex DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179) ATTCGCCAGTGATTGCTGCCA 0.522000 54 395 0 0 0.048971 0 0 SLC17A6 57084 broad.mit.edu 37 11 22363086 22363086 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr11:22363086G>A ENST00000263160.3 + 2 536 c.99G>A c.(97-99)aaG>aaA p.K33K NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 33 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 TGCTGGAGAAGAAGCAAGACA 0.642000 11 45 0 0 0.093190 0 0 MAGEA11 4110 broad.mit.edu 37 X 148798058 148798058 + Silent SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chrX:148798058T>C ENST00000355220.5 + 5 1014 c.912T>C c.(910-912)tgT>tgC p.C304C MAGEA11_ENST00000333104.4_Silent_p.C275C NM_005366.4 NP_005357.2 P43364 MAGAB_HUMAN melanoma antigen family A, 11 304 MAGE. cytoplasm|nucleus protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GCATACAGTGTAATGAGCAGA 0.502000 23 101 0 0 0.083992 0 0 GAREM 64762 broad.mit.edu 37 18 29847915 29847915 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr18:29847915G>C ENST00000399218.4 - 6 2602 c.2547C>G c.(2545-2547)atC>atG p.I849M GAREM_ENST00000269209.6_Missense_Mutation_p.I850M NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 CCTCTGAGAGGATTTCTTCCG 0.418000 6 34 0 0 0.021553 0 0 NPHP3 27031 broad.mit.edu 37 3 132435736 132435736 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr3:132435736C>T ENST00000326682.8 - 4 764 c.688G>A c.(688-690)Gaa>Aaa p.E230K NPHP3_ENST00000337331.5_Missense_Mutation_p.E230K Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 230 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GTCCAATATTCACATTGGGTT 0.443000 15 74 0 0 0.024245 0 0 USH2A 7399 broad.mit.edu 37 1 215848775 215848775 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr1:215848775C>T ENST00000366943.2 - 63 12864 c.12478G>A c.(12478-12480)Gct>Act p.A4160T USH2A_ENST00000307340.3_Missense_Mutation_p.A4160T O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4160 Fibronectin type-III 27. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACAGTAGGAGCCAGCTGAGAG 0.542000 HNSCC(13;0.011) 12 46 0 0 0.105934 0 0 C10orf137 26098 broad.mit.edu 37 10 127429569 127429569 + Splice_Site SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr10:127429569G>C ENST00000337623.3 + 16 2173 c.e16-1 C10orf137_ENST00000356792.4_Splice_Site NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) TTTCTAAACAGATACTTATTG 0.378000 29 100 0 0 0.041601 0 0 TNFSF8 944 broad.mit.edu 37 9 117666585 117666585 + Missense_Mutation SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr9:117666585T>C ENST00000223795.2 - 4 444 c.331A>G c.(331-333)Acc>Gcc p.T111A TNFSF8_ENST00000474301.1_5'UTR NM_001244.3 NP_001235.1 P32971 TNFL8_HUMAN tumor necrosis factor (ligand) superfamily, member 8 111 cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1) 12 GACAACTTGGTTTTGTTTAGA 0.378000 48 46 0 0 0.048971 0 0 FCGR3B 2215 broad.mit.edu 37 1 161599568 161599568 + Splice_Site SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr1:161599568C>T ENST00000294800.3 - 3 592 c.319_splice c.e3+1 p.G107_splice FCGR3B_ENST00000367964.2_Splice_Site_p.G107_splice|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000531221.1_Splice_Site_p.G143_splice|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron NM_001244753.1|NM_001271035.1 NP_001231682.1|NP_001257964.1 O75015 FCG3B_HUMAN Fc fragment of IgG, low affinity IIIb, receptor (CD16b) 107 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ATCAACTCACCGATATGGACT 0.468000 6 40 0 0 0.093190 0 0 MC4R 4160 broad.mit.edu 37 18 58038766 58038766 + Nonsense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr18:58038766G>A ENST00000299766.3 - 1 1235 c.817C>T c.(817-819)Cag>Tag p.Q273* NM_005912.2 NP_005903.2 P32245 MC4R_HUMAN melanocortin 4 receptor 273 feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(73;0.0946) TATGGATTCTGAGGACAAGAG 0.423000 13 51 0 0 0.105934 0 0 NEFL 4747 broad.mit.edu 37 8 24813613 24813613 + RNA SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr8:24813613G>C ENST00000221169.5 - 0 1011 P07196 NFL_HUMAN neurofilament, light polypeptide anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) TCTCCTGCTCGTACAGCGCCC 0.682000 4 11 0 0 0.009096 0 0 ZNF689 115509 broad.mit.edu 37 16 30621254 30621254 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr16:30621254A>G ENST00000287461.3 - 1 446 c.109T>C c.(109-111)Tac>Cac p.Y37H ZNF689_ENST00000566673.1_Intron NM_138447.1 NP_612456.1 Q96CS4 ZN689_HUMAN zinc finger protein 689 37 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1) 14 Colorectal(24;0.198) GGGGAGAAGTACACGGCCACG 0.692000 2 11 0 0 0.004672 0 0 FCRL3 115352 broad.mit.edu 37 1 157666929 157666929 + Splice_Site SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr1:157666929C>G ENST00000368184.3 - 6 1136 c.e6+1 FCRL3_ENST00000368186.5_Splice_Site|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) TAGACACTCACTCTGTACACG 0.522000 17 24 0 0 0.043863 0 0 NUDT12 83594 broad.mit.edu 37 5 102894586 102894586 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr5:102894586C>G ENST00000230792.2 - 3 886 c.790G>C c.(790-792)Gaa>Caa p.E264Q NUDT12_ENST00000507423.1_Missense_Mutation_p.E246Q NM_031438.2 NP_113626.1 Q9BQG2 NUD12_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 12 264 nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1) 12 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) TTACCAGCTTCTTTTTCTTTC 0.373000 3 7 0 0 0.009096 0 0 AP2M1 1173 broad.mit.edu 37 3 183894784 183894784 + Translation_Start_Site SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr3:183894784G>C ENST00000382456.3 + 2 317 c.3G>C c.(1-3)atG>atC p.M1I AP2M1_ENST00000411763.2_Start_Codon_SNP_p.M1I|AP2M1_ENST00000292807.5_Start_Codon_SNP_p.M1I|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000439647.1_Start_Codon_SNP_p.M1I NM_001025205.1 NP_001020376.1 Q96CW1 AP2M1_HUMAN adaptor-related protein complex 2, mu 1 subunit 1 axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane lipid binding|protein binding|transporter activity endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 18 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTGCCGCCATGATTGGAGGCT 0.582000 6 38 0 0 0.029380 0 0 ZNF675 171392 broad.mit.edu 37 19 23836955 23836955 + Silent SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr19:23836955T>C ENST00000359788.4 - 4 948 c.780A>G c.(778-780)gaA>gaG p.E260E ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron NM_138330.2 NP_612203.2 Q8TD23 ZN675_HUMAN zinc finger protein 675 260 bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) CTTTGCCACATTCTTCACATT 0.353000 10 31 0 0 0.058154 0 0 GTF3C2 2976 broad.mit.edu 37 2 27566417 27566417 + Missense_Mutation SNP T T A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr2:27566417T>A ENST00000359541.2 - 2 434 c.5A>T c.(4-6)gAt>gTt p.D2V GTF3C2_ENST00000264720.3_Missense_Mutation_p.D2V Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 2 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCGCAGGTATCCATCAGCAC 0.517000 39 70 0 0 0.042209 0 0 HNF1A 6927 broad.mit.edu 37 12 121426777 121426777 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr12:121426777G>A ENST00000257555.6 + 2 694 c.468G>A c.(466-468)acG>acA p.T156T HNF1A_ENST00000541395.1_Silent_p.T156T|HNF1A_ENST00000543427.1_Silent_p.T39T|HNF1A_ENST00000544413.1_Silent_p.T156T|HNF1A_ENST00000402929.1_Silent_p.T156T|HNF1A_ENST00000400024.2_Silent_p.T156T|HNF1A_ENST00000538626.1_Intron P20823 HNF1A_HUMAN HNF1 homeobox A 156 Interaction with DNA. glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCATGAAGACGCAGAAGCGGG 0.622000 Hepatic Adenoma, Familial Clustering of 10 19 0 0 0.069234 0 0 KIAA1432 57589 broad.mit.edu 37 9 5763345 5763345 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr9:5763345A>G ENST00000414202.2 + 19 2509 c.2318A>G c.(2317-2319)cAc>cGc p.H773R KIAA1432_ENST00000449720.2_Missense_Mutation_p.H657R|KIAA1432_ENST00000381532.2_Missense_Mutation_p.H694R|KIAA1432_ENST00000418622.3_Missense_Mutation_p.H694R|KIAA1432_ENST00000251879.6_Missense_Mutation_p.H773R NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 773 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) CTGCCTTTCCACATCAACATT 0.478000 41 67 0 0 0.092188 0 0 ACSM3 6296 broad.mit.edu 37 16 20781560 20781560 + Nonsense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr16:20781560G>A ENST00000289416.5 + 2 679 c.204G>A c.(202-204)tgG>tgA p.W68* ACSM3_ENST00000440284.2_Nonsense_Mutation_p.W68*|ACSM3_ENST00000450120.2_Nonsense_Mutation_p.W23* NM_005622.3 NP_005613.2 Q53FZ2 ACSM3_HUMAN acyl-CoA synthetase medium-chain family member 3 68 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 21 TGGACCAATGGACTGATAAGG 0.428000 4 30 0 0 0.009096 0 0 M6PR 4074 broad.mit.edu 37 12 9095069 9095069 + Silent SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr12:9095069T>C ENST00000000412.3 - 6 1122 c.654A>G c.(652-654)aaA>aaG p.K218K NM_002355.3 NP_002346.1 P20645 MPRD_HUMAN mannose-6-phosphate receptor (cation dependent) 218 endosome to lysosome transport|receptor-mediated endocytosis cell surface|endosome|integral to plasma membrane|lysosomal membrane mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1) 11 Hepatocellular(102;0.137) BRCA - Breast invasive adenocarcinoma(232;0.0146) GCTCCATTCCTTTGGCTCCCA 0.478000 47 269 0 0 0.048971 0 0 TAF7L 54457 broad.mit.edu 37 X 100547854 100547854 + Translation_Start_Site SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chrX:100547854G>A ENST00000372905.2 - 0 205 TAF7L_ENST00000372907.3_Silent_p.D60D Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 GAGTGTCCTCGTCGGCAGGAA 0.562000 7 175 0 0 0.047766 0 0 LRRC16B 90668 broad.mit.edu 37 14 24532038 24532038 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr14:24532038G>A ENST00000342740.5 + 29 2843 c.2689G>A c.(2689-2691)Gaa>Aaa p.E897K LRRC16B_ENST00000334420.7_5'UTR NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 897 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) CACAGATGATGAACTTGGGAC 0.597000 8 85 0 0 0.047766 0 0 FAT1 2195 broad.mit.edu 37 4 187538164 187538164 + Nonsense_Mutation SNP C C A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr4:187538164C>A ENST00000441802.2 - 11 9279 c.9070G>T c.(9070-9072)Gaa>Taa p.E3024* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3024 Cadherin 28. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CTTACCTTTTCACAAACTGGA 0.388000 HNSCC(5;0.00058) 13 22 7.93312e-07 8.48844e-07 0.020292 1 0 NUP210L 91181 broad.mit.edu 37 1 154067493 154067493 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr1:154067493C>G ENST00000368559.3 - 15 2176 c.2105G>C c.(2104-2106)gGa>gCa p.G702A NUP210L_ENST00000271854.3_Missense_Mutation_p.G702A NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 702 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TTGTGCTATTCCAATCTTCTC 0.443000 10 28 0 0 0.058154 0 0 NLRP1 22861 broad.mit.edu 37 17 5486123 5486123 + Silent SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr17:5486123C>T ENST00000345221.3 - 2 869 c.315G>A c.(313-315)ctG>ctA p.L105L NLRP1_ENST00000577119.1_Silent_p.L105L|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Silent_p.L105L|NLRP1_ENST00000572272.1_Silent_p.L105L|NLRP1_ENST00000269280.4_Silent_p.L105L|NLRP1_ENST00000354411.3_Silent_p.L105L NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 105 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) TGGGAGACCCCAGGTGGGGTT 0.602000 3 32 0 0 0.004672 0 0 FOXE3 2301 broad.mit.edu 37 1 47882290 47882290 + Silent SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr1:47882290C>T ENST00000335071.2 + 1 547 c.303C>T c.(301-303)atC>atT p.I101I NM_012186.2 NP_036318.1 Q13461 FOXE3_HUMAN forkhead box E3 101 cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding lung(3)|prostate(1)|upper_aerodigestive_tract(1) 5 READ - Rectum adenocarcinoma(2;0.0908) ACCGCTTCATCACCGAACGCT 0.667000 9 20 0 0 0.058154 0 0 CHPF2 54480 broad.mit.edu 37 7 150935153 150935153 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr7:150935153G>C ENST00000035307.2 + 4 3218 c.1705G>C c.(1705-1707)Gag>Cag p.E569Q CHPF2_ENST00000495645.1_Missense_Mutation_p.E561Q NM_019015.1 NP_061888.1 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 569 Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3) 17 TGTGCGAGCAGAGGCCCCTTC 0.632000 6 43 0 0 0.047766 0 0 C1orf189 388701 broad.mit.edu 37 1 154171936 154171936 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr1:154171936C>G ENST00000368525.3 - 4 298 c.273G>C c.(271-273)caG>caC p.Q91H NM_001010979.1 NP_001010979.1 Q5VU69 CA189_HUMAN chromosome 1 open reading frame 189 91 kidney(1)|large_intestine(3)|lung(1)|skin(2) 7 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) CTTTGCCCATCTGATTTAGTT 0.478000 42 221 0 0 0.039052 0 0 DNAJC15 29103 broad.mit.edu 37 13 43643083 43643083 + Missense_Mutation SNP A A T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr13:43643083A>T ENST00000379221.2 + 3 602 c.178A>T c.(178-180)Atc>Ttc p.I60F DNAJC15_ENST00000474320.1_3'UTR NM_013238.2 NP_037370.2 Q9Y5T4 DJC15_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 15 60 integral to membrane heat shock protein binding endometrium(2)|kidney(1)|urinary_tract(1) 4 Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737) CGCATTTCGGATCTGGAAACC 0.333000 7 12 0 0 0.038147 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 3 24 0 0 0.004672 0 0 LDLR 3949 broad.mit.edu 37 19 11224240 11224240 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr19:11224240C>G ENST00000558518.1 + 10 1575 c.1388C>G c.(1387-1389)tCt>tGt p.S463C LDLR_ENST00000545707.1_Missense_Mutation_p.S336C|LDLR_ENST00000535915.1_Missense_Mutation_p.S422C|LDLR_ENST00000455727.2_Missense_Mutation_p.S295C|LDLR_ENST00000558013.1_Missense_Mutation_p.S463C|LDLR_ENST00000557933.1_Missense_Mutation_p.S463C NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 463 cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CACGGCGTCTCTTCCTATGAC 0.632000 10 27 0 0 0.093190 0 0 STRBP 55342 broad.mit.edu 37 9 125909210 125909210 + Missense_Mutation SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr9:125909210G>T ENST00000447404.2 - 12 1566 c.1262C>A c.(1261-1263)tCt>tAt p.S421Y STRBP_ENST00000348403.5_Missense_Mutation_p.S421Y|STRBP_ENST00000360998.3_Missense_Mutation_p.S407Y Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 421 DRBM 1. multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2) 26 CACATCTACAGACATTGTGAA 0.453000 27 56 2.65835e-16 2.99414e-16 0.034045 1 0 USH1G 124590 broad.mit.edu 37 17 72915717 72915717 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr17:72915717G>A ENST00000319642.1 - 2 1396 c.1214C>T c.(1213-1215)gCc>gTc p.A405V NM_173477.2 NP_775748.2 Q495M9 USH1G_HUMAN Usher syndrome 1G (autosomal recessive) 405 SAM. equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton HN1/USH1G(2) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3) 14 all_lung(278;0.172)|Lung NSC(278;0.207) CAGGAGGGCGGCAAAGTCCTC 0.627000 4 60 0 0 0.009096 0 0 EPHA7 2045 broad.mit.edu 37 6 94120310 94120310 + Silent SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr6:94120310C>T ENST00000369303.4 - 3 925 c.741G>A c.(739-741)agG>agA p.R247R EPHA7_ENST00000369297.1_Silent_p.R247R NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 247 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TGCAGTGCATCCTGGGGGCGT 0.473000 9 37 0 0 0.047766 0 0 VWA5A 4013 broad.mit.edu 37 11 123989062 123989062 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr11:123989062A>G ENST00000456829.2 + 5 664 c.413A>G c.(412-414)gAt>gGt p.D138G VWA5A_ENST00000392748.1_Missense_Mutation_p.D138G|VWA5A_ENST00000360334.4_Missense_Mutation_p.D138G|VWA5A_ENST00000361352.5_Missense_Mutation_p.D138G|VWA5A_ENST00000392744.4_Missense_Mutation_p.D154G|VWA5A_ENST00000449321.1_Missense_Mutation_p.D138G NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 138 autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 CTGGAAGCAGATGGGGCTCTG 0.537000 15 89 0 0 0.033300 0 0 HDHD3 81932 broad.mit.edu 37 9 116136274 116136274 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr9:116136274G>A ENST00000238379.5 - 2 1258 c.361C>T c.(361-363)Ctg>Ttg p.L121L HDHD3_ENST00000374180.3_Silent_p.L121L|HDHD3_ENST00000485934.1_5'UTR NM_031219.2 NP_112496.1 Q9BSH5 HDHD3_HUMAN haloacid dehalogenase-like hydrolase domain containing 3 121 phosphoglycolate phosphatase activity|protein binding large_intestine(2)|liver(1) 3 CACTCCCTCAGGGTGTCCTCA 0.602000 27 102 0 0 0.108266 0 0 LTBP1 4052 broad.mit.edu 37 2 33588552 33588552 + Missense_Mutation SNP A A C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr2:33588552A>C ENST00000404816.2 + 29 4719 c.4366A>C c.(4366-4368)Acg>Ccg p.T1456P LTBP1_ENST00000407925.1_Missense_Mutation_p.T1130P|LTBP1_ENST00000272273.5_Missense_Mutation_p.T354P|LTBP1_ENST00000404525.1_Missense_Mutation_p.T1077P|LTBP1_ENST00000418533.2_Missense_Mutation_p.T1088P|LTBP1_ENST00000354476.3_Missense_Mutation_p.T1457P|LTBP1_ENST00000390003.4_Missense_Mutation_p.T1131P|LTBP1_ENST00000402934.1_Missense_Mutation_p.T1075P Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1456 EGF-like 15; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TAAGCAAGGGACGTACTATGA 0.398000 14 92 0 0 0.024245 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101573934 101573934 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr3:101573934A>G ENST00000326172.5 + 7 1587 c.1472A>G c.(1471-1473)aAt>aGt p.N491S NFKBIZ_ENST00000394054.2_Missense_Mutation_p.N391S|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.N369S NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 491 Interaction with NFKB1/p50 (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 GTGGCTGCCAATCAGCATCTC 0.458000 21 102 0 0 0.091800 0 0 TMC2 117532 broad.mit.edu 37 20 2621930 2621930 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr20:2621930A>G ENST00000358864.1 + 20 2669 c.2654A>G c.(2653-2655)cAc>cGc p.H885R NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 885 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 GATTCTGGCCACGCCCCATCT 0.617000 3 47 0 0 0.004672 0 0 ARID2 196528 broad.mit.edu 37 12 46245941 46245941 + Missense_Mutation SNP C C A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr12:46245941C>A ENST00000334344.6 + 15 4207 c.4035C>A c.(4033-4035)gaC>gaA p.D1345E ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.D955E|ARID2_ENST00000422737.1_Missense_Mutation_p.D1196E NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1345 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AACAAATAGACATGCAAGATA 0.363000 """N, S, F""" hepatocellular carcinoma 11 35 0.0135373 0.0137951 0.093190 1 0 OBSCN 84033 broad.mit.edu 37 1 228509058 228509058 + Missense_Mutation SNP C C A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr1:228509058C>A ENST00000570156.2 + 66 17461 c.17387C>A c.(17386-17388)gCa>gAa p.A5796E OBSCN_ENST00000366709.4_Missense_Mutation_p.A1958E|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2473E|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4839E|OBSCN_ENST00000422127.1_Missense_Mutation_p.A4839E NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4839 DH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGGGCCCCAGCAGCCCCCTCT 0.622000 8 25 3.09899e-07 3.34941e-07 0.047766 1 0 FCGR3A 2214 broad.mit.edu 37 1 161518211 161518211 + Splice_Site SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr1:161518211C>T ENST00000367969.3 - 3 610 c.427_splice c.e3+1 p.G143_splice FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000436743.1_Splice_Site_p.G107_splice|FCGR3A_ENST00000540048.1_Splice_Site_p.G107_splice|FCGR3A_ENST00000443193.1_Splice_Site_p.G142_splice NM_000569.6 NP_000560.5 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor (CD16a) 107 Ig-like C2-type 2. immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ATCAACTCACCGATATGGACT 0.473000 4 59 0 0 0.038147 0 0 PKD1L1 168507 broad.mit.edu 37 7 47882701 47882701 + Silent SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr7:47882701G>T ENST00000289672.2 - 34 5354 c.5304C>A c.(5302-5304)gtC>gtA p.V1768V NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1768 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 TACTTTTAGCGACCAAAAATC 0.388000 10 21 2.17888e-05 2.30832e-05 0.058154 1 0 MYH3 4621 broad.mit.edu 37 17 10545560 10545560 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr17:10545560G>A ENST00000583535.1 - 17 2043 c.1956C>T c.(1954-1956)ttC>ttT p.F652F MYH3_ENST00000226209.7_Silent_p.F652F NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 652 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TTCTTACCCTGAAAAGGGCAG 0.388000 8 32 0 0 0.058154 0 0 TMEM64 169200 broad.mit.edu 37 8 91643854 91643854 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr8:91643854C>T ENST00000458549.2 - 2 1054 c.877G>A c.(877-879)Ggt>Agt p.G293S TMEM64_ENST00000519519.1_Missense_Mutation_p.G32S|TMEM64_ENST00000418210.2_Intron NM_001008495.3 NP_001008495.2 Q6YI46 TMM64_HUMAN transmembrane protein 64 293 integral to membrane endometrium(1)|large_intestine(1) 2 BRCA - Breast invasive adenocarcinoma(11;0.0598) AGGGTGGTACCCAAGTAAGAA 0.423000 106 51 0 0 0.048971 0 0 FOXO3 2309 broad.mit.edu 37 6 108984767 108984767 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr6:108984767G>C ENST00000406360.1 + 2 1074 c.731G>C c.(730-732)gGa>gCa p.G244A FOXO3_ENST00000343882.6_Missense_Mutation_p.G244A|FOXO3_ENST00000540898.1_Missense_Mutation_p.G24A NM_001455.3 NP_001446.1 O43524 FOXO3_HUMAN forkhead box O3 244 PDGGKSGKA -> LMGEERKT (in Ref. 5; CAA04860). antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) GGGAAGAGCGGAAAAGCCCCC 0.592000 9 19 0 0 0.058154 0 0 PEX1 5189 broad.mit.edu 37 7 92147568 92147568 + Splice_Site SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr7:92147568T>C ENST00000248633.4 - 4 454 c.357_splice c.e4-1 p.E120_splice PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Splice_Site_p.E120_splice NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 120 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) AGCATGCAGCTCCTAGAACCA 0.313000 24 36 0 0 0.091800 0 0 SGK1 6446 broad.mit.edu 37 6 134498960 134498960 + Translation_Start_Site SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr6:134498960T>C ENST00000528577.1 - 1 83 c.1A>G c.(1-3)Atg>Gtg p.M1V SGK1_ENST00000367858.5_Intron NM_001143677.1 NP_001137149.1 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 0 Necessary for localization to the cytoplasm. apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) TGAGATGACATGAGAGCACGA 0.493000 5 13 0 0 0.021553 0 0 EWSR1 2130 broad.mit.edu 37 22 29695245 29695245 + Silent SNP C C T rs138837921 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr22:29695245C>T ENST00000397938.2 + 15 1921 c.1602C>T c.(1600-1602)ttC>ttT p.F534F EWSR1_ENST00000332035.6_Silent_p.F478F|EWSR1_ENST00000406548.1_Silent_p.F533F|EWSR1_ENST00000331029.7_Silent_p.F496F|EWSR1_ENST00000414183.2_Silent_p.F539F|EWSR1_ENST00000332050.6_Silent_p.F461F NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 534 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ACCAGAACTTCGCCTGGAGAA 0.512000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 27 102 0 0 0.041601 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 3 160 0 0 0.004672 0 0 SLC43A1 8501 broad.mit.edu 37 11 57268800 57268800 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr11:57268800C>T ENST00000278426.3 - 3 512 c.157G>A c.(157-159)Gag>Aag p.E53K SLC43A1_ENST00000528450.1_Missense_Mutation_p.E53K NM_003627.5 NP_003618.1 O75387 LAT3_HUMAN solute carrier family 43 (amino acid system L transporter), member 1 53 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane neutral amino acid transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 GTGCTGCTCTCAGCTGAGGAG 0.607000 5 34 0 0 0.021553 0 0 ZNF616 90317 broad.mit.edu 37 19 52619847 52619847 + Silent SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr19:52619847A>G ENST00000600228.1 - 4 831 c.570T>C c.(568-570)tgT>tgC p.C190C ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) AGGCTTTGCCACATTCATTAC 0.373000 41 83 0 0 0.039052 0 0 NKX3-2 579 broad.mit.edu 37 4 13544126 13544126 + Missense_Mutation SNP C C T rs61795263 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr4:13544126C>T ENST00000382438.5 - 2 1128 c.493G>A c.(493-495)Gac>Aac p.D165N NM_001189.3 NP_001180.1 P78367 NKX32_HUMAN NK3 homeobox 2 165 negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1)|lung(4)|prostate(1) 7 CCAACACCGTCGTCCTCGGTC 0.721000 4 20 0 0 0.009096 0 0 FCGBP 8857 broad.mit.edu 37 19 40376315 40376315 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr19:40376315C>G ENST00000221347.6 - 25 11996 c.11989G>C c.(11989-11991)Gag>Cag p.E3997Q NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 3997 Cys-rich. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GTTCCTACCTCATAGTAGACA 0.542000 6 28 0 0 0.038147 0 0 IZUMO1 284359 broad.mit.edu 37 19 49245052 49245052 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr19:49245052C>T ENST00000332955.2 - 8 1295 c.748G>A c.(748-750)Gtc>Atc p.V250I NM_182575.2 NP_872381.2 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 250 Ig-like C2-type. fusion of sperm to egg plasma membrane integral to membrane endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) TGACCTGTGACGTGAAAATTG 0.632000 9 27 0 0 0.047766 0 0 ZNF598 90850 broad.mit.edu 37 16 2053040 2053040 + Silent SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr16:2053040C>T ENST00000563630.1 - 3 494 c.252G>A c.(250-252)cgG>cgA p.R84R ZNF598_ENST00000562103.1_Silent_p.R84R|ZNF598_ENST00000431526.1_Silent_p.R139R Q86UK7 ZN598_HUMAN zinc finger protein 598 139 intracellular zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 CATGCTGCCTCCGCATGTGCT 0.677000 4 6 0 0 0.009096 0 0 SGCE 8910 broad.mit.edu 37 7 94257653 94257653 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr7:94257653G>A ENST00000415788.2 - 4 446 c.359C>T c.(358-360)cCc>cTc p.P120L SGCE_ENST00000428696.2_Missense_Mutation_p.P84L|SGCE_ENST00000265735.7_Missense_Mutation_p.P84L|SGCE_ENST00000437425.2_Missense_Mutation_p.P43L|SGCE_ENST00000447873.1_Missense_Mutation_p.P84L|SGCE_ENST00000445866.2_Missense_Mutation_p.P84L O43556 SGCE_HUMAN sarcoglycan, epsilon 84 cell-matrix adhesion|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma calcium ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 14 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) AAATGTTATGGGATCATTACT 0.368000 13 22 0 0 0.105934 0 0 PEAR1 375033 broad.mit.edu 37 1 156884446 156884446 + Silent SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr1:156884446C>T ENST00000338302.3 + 24 3195 c.2970C>T c.(2968-2970)gaC>gaT p.D990D PEAR1_ENST00000292357.7_Silent_p.D990D Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 990 Pro-rich. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CAGACCGAGACTCTGTGGGCT 0.607000 22 65 0 0 0.062417 0 0 TENM1 10178 broad.mit.edu 37 X 123870838 123870838 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chrX:123870838C>G ENST00000422452.2 - 4 808 c.745G>C c.(745-747)Gtc>Ctc p.V249L TENM1_ENST00000371130.3_Missense_Mutation_p.V249L NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CTGTTCAGGACCCAGCTGTTA 0.502000 168 88 0 0 0.048971 0 0 ZNF598 90850 broad.mit.edu 37 16 2053657 2053657 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr16:2053657C>T ENST00000563630.1 - 2 372 c.130G>A c.(130-132)Gat>Aat p.D44N ZNF598_ENST00000562103.1_Missense_Mutation_p.D44N|ZNF598_ENST00000431526.1_Missense_Mutation_p.D99N Q86UK7 ZN598_HUMAN zinc finger protein 598 99 intracellular zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 AAGTAGATATCATATTTCTTC 0.547000 OREG0023548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 42 0 0 0.024245 0 0 AKAP9 10142 broad.mit.edu 37 7 91632007 91632007 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr7:91632007G>C ENST00000359028.2 + 9 3037 c.2812G>C c.(2812-2814)Gaa>Caa p.E938Q AKAP9_ENST00000356239.3_Missense_Mutation_p.E926Q|AKAP9_ENST00000358100.2_Missense_Mutation_p.E938Q Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 938 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTTTGTAGCAGAAACATTGGA 0.358000 T BRAF papillary thyroid 9 38 0 0 0.047766 0 0 ABCC10 89845 broad.mit.edu 37 6 43413457 43413457 + Missense_Mutation SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr6:43413457G>T ENST00000244533.3 + 13 3426 c.3067G>T c.(3067-3069)Gca>Tca p.A1023S ABCC10_ENST00000372530.4_Missense_Mutation_p.A1051S NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 1051 ABC transmembrane type-1 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GGCCAACGCGGCAGGCCTGCT 0.647000 8 56 0.000157383 0.000162705 0.038147 1 0 PCDHB10 56126 broad.mit.edu 37 5 140572793 140572793 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr5:140572793C>G ENST00000239446.4 + 1 852 c.668C>G c.(667-669)tCt>tGt p.S223C NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 223 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCATCCAGGTCTGGGACCTCT 0.552000 28 70 0 0 0.099896 0 0 WWC1 23286 broad.mit.edu 37 5 167887709 167887709 + Nonsense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr5:167887709C>T ENST00000265293.4 + 20 3380 c.2878C>T c.(2878-2880)Cga>Tga p.R960* WWC1_ENST00000521089.1_Nonsense_Mutation_p.R960*|WWC1_ENST00000522140.1_3'UTR NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 960 Interaction with PRKCZ.|Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) ACCTTTTGTTCGAAACTCCCT 0.507000 13 11 0 0 0.033300 0 0 PKP4 8502 broad.mit.edu 37 2 159488376 159488376 + Missense_Mutation SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr2:159488376G>T ENST00000389757.3 + 8 1390 c.1265G>T c.(1264-1266)aGc>aTc p.S422I PKP4_ENST00000389759.3_Missense_Mutation_p.S422I NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 422 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 ACCTATTACAGCCCAGTGTAC 0.527000 HNSCC(62;0.18) 22 62 1.96292e-10 2.1765e-10 0.055883 1 0 PTK2 5747 broad.mit.edu 37 8 141874416 141874416 + Nonsense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr8:141874416G>A ENST00000522684.1 - 5 674 c.445C>T c.(445-447)Caa>Taa p.Q149* PTK2_ENST00000395218.2_Nonsense_Mutation_p.Q149*|PTK2_ENST00000521059.1_Nonsense_Mutation_p.Q149*|PTK2_ENST00000517887.1_Nonsense_Mutation_p.Q193*|PTK2_ENST00000340930.3_Nonsense_Mutation_p.Q149*|PTK2_ENST00000519419.1_Nonsense_Mutation_p.Q193*|PTK2_ENST00000535192.1_Nonsense_Mutation_p.Q149* NM_153831.3 NP_722560.1 Q05397 FAK1_HUMAN protein tyrosine kinase 2 149 FERM. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) AATACCTGTTGATAGAAGAAA 0.264000 11 134 0 0 0.093190 0 0 APC 324 broad.mit.edu 37 5 112176368 112176368 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr5:112176368G>A ENST00000457016.1 + 16 5457 c.5077G>A c.(5077-5079)Gaa>Aaa p.E1693K CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.E1693K|APC_ENST00000257430.4_Missense_Mutation_p.E1693K P25054 APC_HUMAN adenomatous polyposis coli 1693 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.K1192fs*3(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) CATTCCTACAGAAGGCAGAAG 0.438000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 4 17 0 0 0.014758 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72169178 72169178 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr14:72169178C>T ENST00000555818.1 + 12 3950 c.3602C>T c.(3601-3603)aCg>aTg p.T1201M SIPA1L1_ENST00000358550.2_Missense_Mutation_p.T1201M|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.T1201M|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.T676M NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1201 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GGAAAATCCACGCCTAGCTGG 0.478000 8 27 0 0 0.038147 0 0 FSIP1 161835 broad.mit.edu 37 15 40057834 40057834 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr15:40057834G>C ENST00000350221.3 - 4 633 c.424C>G c.(424-426)Caa>Gaa p.Q142E NM_152597.4 NP_689810.3 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 142 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) TCTAGACCTTGCTTCTTAATT 0.323000 8 25 0 0 0.047766 0 0 GRIK3 2899 broad.mit.edu 37 1 37337827 37337827 + Missense_Mutation SNP C C T rs143358361 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr1:37337827C>T ENST00000373091.3 - 4 710 c.694G>A c.(694-696)Gac>Aac p.D232N GRIK3_ENST00000373093.4_Missense_Mutation_p.D232N NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 232 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity p.D232N(1) breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TGGCTGCAGTCGAAGATAATG 0.612000 4 22 0 0 0.009096 0 0 LTN1 26046 broad.mit.edu 37 21 30357237 30357237 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr21:30357237C>T ENST00000361371.4 - 4 502 c.352G>A c.(352-354)Gac>Aac p.D118N LTN1_ENST00000389194.2_Missense_Mutation_p.D164N|LTN1_ENST00000389195.2_Missense_Mutation_p.D164N NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 118 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 ACGCGACGGTCATGATCCTAT 0.348000 10 17 0 0 0.058154 0 0 TNRC6C 57690 broad.mit.edu 37 17 76045225 76045225 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr17:76045225G>A ENST00000335749.4 + 3 651 c.82G>A c.(82-84)Gtc>Atc p.V28I TNRC6C_ENST00000541771.1_Missense_Mutation_p.V28I|TNRC6C_ENST00000544502.1_Missense_Mutation_p.V28I|TNRC6C_ENST00000588847.1_Missense_Mutation_p.V28I|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V28I|TNRC6C_ENST00000588061.1_Missense_Mutation_p.V28I NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 28 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) TGGCGCACTCGTCCAAAGCCC 0.557000 11 59 0 0 0.069234 0 0 DGKQ 1609 broad.mit.edu 37 4 959312 959312 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr4:959312C>T ENST00000273814.3 - 14 1658 c.1585G>A c.(1585-1587)Gtg>Atg p.V529M DGKQ_ENST00000502309.1_5'UTR NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 529 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) ACGGACACCACGGTGGCTGCA 0.652000 3 25 0 0 0.004672 0 0 HSPA12A 259217 broad.mit.edu 37 10 118434882 118434882 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr10:118434882G>C ENST00000369209.3 - 12 1542 c.1438C>G c.(1438-1440)Ctg>Gtg p.L480V NM_025015.2 NP_079291.2 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 480 ATP binding breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all cancers(201;0.0158) CCGCCCACCAGAAAGAGGAAC 0.622000 4 12 0 0 0.009096 0 0 KLHDC4 54758 broad.mit.edu 37 16 87744911 87744911 + Missense_Mutation SNP G G A rs113844965 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr16:87744911G>A ENST00000270583.5 - 9 1032 c.974C>T c.(973-975)tCg>tTg p.S325L KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.S268L|KLHDC4_ENST00000347925.5_Missense_Mutation_p.S294L NM_017566.3 NP_060036.2 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 325 breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 21 BRCA - Breast invasive adenocarcinoma(80;0.0283) GAACTCGCCCGACAGGCTCTC 0.582000 9 33 0 0 0.047766 0 0 SPG7 6687 broad.mit.edu 37 16 89603249 89603249 + Silent SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr16:89603249C>G ENST00000341316.2 + 10 1408 c.1401C>G c.(1399-1401)ctC>ctG p.L467L SPG7_ENST00000268704.2_Intron NM_199367.1 NP_955399.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 347 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) GCTCCTGTCTCACGGAGCCCA 0.582000 31 146 0 0 0.064281 0 0 SP3 6670 broad.mit.edu 37 2 174819640 174819640 + Missense_Mutation SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr2:174819640T>C ENST00000310015.6 - 4 2130 c.1600A>G c.(1600-1602)Ata>Gta p.I534V SP3_ENST00000455789.2_Missense_Mutation_p.I481V|SP3_ENST00000418194.2_Missense_Mutation_p.I466V NM_001172712.1|NM_003111.4 NP_001166183.1|NP_003102.1 Q02447 SP3_HUMAN Sp3 transcription factor 534 Repressor domain. negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding EWSR1/SP3(3) NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.185) TGTAGCTGTATACCAGCAGAA 0.423000 35 57 0 0 0.064281 0 0 TGS1 96764 broad.mit.edu 37 8 56699563 56699563 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr8:56699563G>A ENST00000260129.5 + 4 1583 c.1106G>A c.(1105-1107)gGa>gAa p.G369E NM_024831.6 NP_079107.6 Q96RS0 TGS1_HUMAN trimethylguanosine synthase 1 369 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) CGTAATGGAGGAACCAATGAG 0.438000 5 52 0 0 0.014758 0 0 CDH4 1002 broad.mit.edu 37 20 60511842 60511842 + Silent SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr20:60511842C>T ENST00000360469.5 + 16 2680 c.2592C>T c.(2590-2592)tcC>tcT p.S864S CDH4_ENST00000543233.1_Silent_p.S790S NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 864 adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CCTATGACTCCCTGCTGGTCT 0.637000 22 22 0 0 0.069288 0 0 APC 324 broad.mit.edu 37 5 112178407 112178407 + Missense_Mutation SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr5:112178407G>T ENST00000457016.1 + 16 7496 c.7116G>T c.(7114-7116)caG>caT p.Q2372H CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.Q2372H|APC_ENST00000257430.4_Missense_Mutation_p.Q2372H P25054 APC_HUMAN adenomatous polyposis coli 2372 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) CAGGTAGACAGATGAGCCAAC 0.403000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 14 34 1.5842e-08 1.72969e-08 0.105934 1 0 OR1E1 8387 broad.mit.edu 37 17 3301357 3301357 + Silent SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr17:3301357C>T ENST00000322608.2 - 1 347 c.348G>A c.(346-348)gtG>gtA p.V116V NM_003553.2 NP_003544.2 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, member 1 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(2)|lung(5) 10 AGGCCATGGCCACAAGGAGGA 0.577000 13 26 0 0 0.105934 0 0 CACNB2 783 broad.mit.edu 37 10 18439891 18439891 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr10:18439891G>A ENST00000282343.8 + 2 338 c.116G>A c.(115-117)aGt>aAt p.S39N CACNB2_ENST00000324631.7_Missense_Mutation_p.S67N|CACNB2_ENST00000352115.6_Missense_Mutation_p.S67N|CACNB2_ENST00000377328.1_Missense_Mutation_p.S67N|CACNB2_ENST00000377331.2_Missense_Mutation_p.S39N|CACNB2_ENST00000467034.1_3'UTR NM_001167945.1|NM_201571.3 NP_001161417.1|NP_963865.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 67 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) ACCTCAAATAGTTTTGTTCGC 0.313000 8 78 0 0 0.093190 0 0 QSOX1 5768 broad.mit.edu 37 1 180165521 180165521 + Silent SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr1:180165521C>G ENST00000367602.3 + 12 1667 c.1593C>G c.(1591-1593)ctC>ctG p.L531L QSOX1_ENST00000367600.5_Silent_p.L531L O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 531 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 TCAACTTCCTCAAGGCCCACT 0.617000 62 140 0 0 0.048971 0 0 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr17:7577094G>A ENST00000420246.2 - 8 976 c.844C>T c.(844-846)Cgg>Tgg p.R282W TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 282 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCTGTGCGCCGGTCTCTCCCA 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 16 32 0 0 0.024245 0 0 ADCY4 196883 broad.mit.edu 37 14 24789048 24789048 + Nonsense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr14:24789048G>C ENST00000310677.4 - 22 2746 c.2633C>G c.(2632-2634)tCa>tGa p.S878* ADCY4_ENST00000418030.2_Nonsense_Mutation_p.S878*|ADCY4_ENST00000554068.2_Nonsense_Mutation_p.S878* NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 878 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) GTCTGGGACTGAGGCGAAGAG 0.493000 6 76 0 0 0.038147 0 0 BAHD1 22893 broad.mit.edu 37 15 40750963 40750963 + Silent SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr15:40750963C>G ENST00000561234.1 + 2 559 c.300C>G c.(298-300)ccC>ccG p.P100P BAHD1_ENST00000560846.1_Silent_p.P100P|BAHD1_ENST00000416165.1_Silent_p.P100P Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 100 heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) CCAAGCCCCCCAGCCCGGCCC 0.657000 4 41 0 0 0.009096 0 0 PTPN4 5775 broad.mit.edu 37 2 120712858 120712858 + Missense_Mutation SNP G G T rs143331305 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr2:120712858G>T ENST00000263708.2 + 20 2710 c.1939G>T c.(1939-1941)Gct>Tct p.A647S PTPN4_ENST00000544261.1_Missense_Mutation_p.A280S NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 647 cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) GATCCAGCTAGCTGAGGGGCT 0.403000 10 36 6.40141e-05 6.68245e-05 0.080935 1 0 DOCK2 1794 broad.mit.edu 37 5 169144446 169144446 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr5:169144446A>G ENST00000256935.8 + 21 2170 c.2090A>G c.(2089-2091)gAg>gGg p.E697G DOCK2_ENST00000520908.1_Missense_Mutation_p.E189G|DOCK2_ENST00000540750.1_5'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 697 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACCGTTCTGGAGGCTTACATC 0.463000 7 137 0 0 0.058154 0 0 MIS18BP1 55320 broad.mit.edu 37 14 45679696 45679696 + Missense_Mutation SNP A A T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr14:45679696A>T ENST00000310806.4 - 14 3497 c.3039T>A c.(3037-3039)gaT>gaA p.D1013E NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 1013 Poly-Asp. cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 TTGGCAGAATATCATCATCAT 0.373000 14 97 0 0 0.020292 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30722697 30722697 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr22:30722697G>A ENST00000215790.7 - 1 338 c.174C>T c.(172-174)ttC>ttT p.F58F TBC1D10A_ENST00000490449.1_5'UTR|TBC1D10A_ENST00000403477.3_Silent_p.F58F NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 58 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CGATGAAGCCGAACTTGTCGA 0.726000 10 24 0 0 0.058154 0 0 TMBIM6 7009 broad.mit.edu 37 12 50135944 50135944 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr12:50135944G>C ENST00000423828.1 + 1 353 c.25G>C c.(25-27)Gag>Cag p.E9Q TMBIM6_ENST00000267115.5_Intron|TMBIM6_ENST00000549385.1_Intron|TMBIM6_ENST00000552699.1_Missense_Mutation_p.E9Q NM_001098576.1 NP_001092046.1 P55061 BI1_HUMAN transmembrane BAX inhibitor motif containing 6 0 apoptosis|negative regulation of apoptosis endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus p.E9Q(1) lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 6 TGTGACACGCGAGGCTCCTCA 0.682000 12 5 0 0 0.080935 0 0 KIAA1429 25962 broad.mit.edu 37 8 95507153 95507153 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr8:95507153C>T ENST00000297591.5 - 20 4651 c.4576G>A c.(4576-4578)Gat>Aat p.D1526N KIAA1429_ENST00000437199.1_3'UTR NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1526 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TTCAACTGATCATCCATGACA 0.318000 6 291 0 0 0.038147 0 0 STAMBPL1 57559 broad.mit.edu 37 10 90682924 90682924 + Splice_Site SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr10:90682924G>C ENST00000371926.3 + 11 2212 c.e11-1 STAMBPL1_ENST00000371922.1_Splice_Site|STAMBPL1_ENST00000371924.1_Splice_Site|STAMBPL1_ENST00000371927.3_Intron NM_020799.3 NP_065850.1 Q96FJ0 STALP_HUMAN STAM binding protein-like 1 metal ion binding|metallopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1) 11 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) TTCTTTCCTAGATATGCAAAC 0.313000 6 20 0 0 0.021553 0 0 CPXM2 119587 broad.mit.edu 37 10 125526664 125526664 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr10:125526664G>A ENST00000241305.3 - 10 1458 c.1304C>T c.(1303-1305)tCg>tTg p.S435L CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 435 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) TCCCAGCTCCGAGCCCTGGAG 0.552000 21 22 0 0 0.076483 0 0 ZNF208 7757 broad.mit.edu 37 19 22157311 22157311 + Missense_Mutation SNP A A C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr19:22157311A>C ENST00000397126.4 - 4 673 c.525T>G c.(523-525)tgT>tgG p.C175W ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CGTATTCTTTACATTGCAAAT 0.328000 8 41 0 0 0.038147 0 0 ALPK2 115701 broad.mit.edu 37 18 56184167 56184167 + Silent SNP G G T rs61732436 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr18:56184167G>T ENST00000361673.3 - 9 6126 c.5913C>A c.(5911-5913)atC>atA p.I1971I NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1971 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 AGTTCCTTTGGATGAGCTCAT 0.502000 18 73 2.37509e-13 2.6611e-13 0.055883 1 0 MPP3 4356 broad.mit.edu 37 17 41888554 41888554 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr17:41888554C>G ENST00000398393.1 - 15 1610 c.1350G>C c.(1348-1350)aaG>aaC p.K450N MPP3_ENST00000398389.4_Missense_Mutation_p.K425N Q13368 MPP3_HUMAN membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) 425 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane guanylate kinase activity endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) TCTCATGGCTCTTTCGGGGCC 0.488000 12 47 0 0 0.105934 0 0 TTC30A 92104 broad.mit.edu 37 2 178482633 178482633 + Missense_Mutation SNP T T A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr2:178482633T>A ENST00000355689.4 - 1 1061 c.797A>T c.(796-798)aAc>aTc p.N266I AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 266 cell projection organization cilium binding autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) TACCTCATAGTTTCTCAGTTG 0.507000 40 80 0 0 0.111260 0 0 IZUMO4 113177 broad.mit.edu 37 19 2096977 2096977 + Silent SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr19:2096977G>T ENST00000395307.2 + 1 598 c.33G>T c.(31-33)acG>acT p.T11T IZUMO4_ENST00000395301.3_Silent_p.T11T|IZUMO4_ENST00000395296.1_Silent_p.T11T NM_001031735.2 NP_001026905.2 Q1ZYL8 IZUM4_HUMAN IZUMO family member 4 11 extracellular region central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 6 TGTGCCTGACGGCGGCGCTGG 0.672000 OREG0025135 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 61 0.000978159 0.00100156 0.080935 1 0 ADAM17 6868 broad.mit.edu 37 2 9666273 9666273 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr2:9666273G>A ENST00000310823.3 - 6 902 c.720C>T c.(718-720)ggC>ggT p.G240G ADAM17_ENST00000497134.1_Silent_p.G240G NM_003183.4 NP_003174.3 P78536 ADA17_HUMAN ADAM metallopeptidase domain 17 240 Peptidase M12B. B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 28 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) CTTCCCCTCTGCCCATGTATC 0.383000 66 111 0 0 0.048971 0 0 RIPK1 8737 broad.mit.edu 37 6 3105891 3105891 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr6:3105891G>C ENST00000259808.4 + 9 1480 c.1182G>C c.(1180-1182)caG>caC p.Q394H RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Missense_Mutation_p.Q348H|RIPK1_ENST00000380409.2_Missense_Mutation_p.Q394H Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine kinase 1 394 Interaction with SQSTM1. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 Ovarian(93;0.0386) all_hematologic(90;0.0895) TGGACAGGCAGACGAAACAGC 0.532000 26 65 0 0 0.091800 0 0 FAM188B 84182 broad.mit.edu 37 7 30818091 30818091 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr7:30818091G>A ENST00000265299.6 + 2 184 c.107G>A c.(106-108)cGc>cAc p.R36H INMT-FAM188B_ENST00000458257.1_3'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 36 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GAACGCCCACGCTCTGACCTC 0.438000 15 62 0 0 0.024245 0 0 PSME4 23198 broad.mit.edu 37 2 54155437 54155437 + Silent SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr2:54155437T>C ENST00000404125.1 - 11 1375 c.1320A>G c.(1318-1320)acA>acG p.T440T PSME4_ENST00000421748.2_Intron NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 440 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) ATGCAGGATATGTTCTACAGT 0.353000 4 24 0 0 0.009096 0 0 PDE12 201626 broad.mit.edu 37 3 57542169 57542169 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr3:57542169G>A ENST00000311180.8 + 1 166 c.63G>A c.(61-63)ctG>ctA p.L21L PDE12_ENST00000487257.1_Silent_p.L21L NM_177966.5 NP_808881.3 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 21 hydrolase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) TGGAGAAGCTGAGCCGGGCTG 0.692000 5 9 0 0 0.058154 0 0 GRIA1 2890 broad.mit.edu 37 5 153085627 153085627 + Splice_Site SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr5:153085627G>A ENST00000285900.5 + 11 2166 c.1823_splice c.e11+1 p.R608_splice GRIA1_ENST00000518142.1_Splice_Site_p.R528_splice|GRIA1_ENST00000518783.1_Splice_Site_p.R618_splice|GRIA1_ENST00000521843.2_Splice_Site_p.R539_splice|GRIA1_ENST00000340592.5_Splice_Site_p.R608_splice|GRIA1_ENST00000448073.4_Splice_Site_p.R618_splice NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 608 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ATTTCTCCCAGGTCAGTCAGC 0.403000 31 22 0 0 0.074837 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616773 77616773 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr8:77616773G>C ENST00000521891.2 + 2 898 c.450G>C c.(448-450)caG>caC p.Q150H ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q150H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q150H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q150H NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 150 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAAGTGGGCAGAATGCACAGA 0.488000 HNSCC(33;0.089) 27 21 0 0 0.099896 0 0 ZZEF1 23140 broad.mit.edu 37 17 3961378 3961378 + Missense_Mutation SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr17:3961378T>C ENST00000381638.2 - 32 5199 c.5075A>G c.(5074-5076)aAt>aGt p.N1692S NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1692 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GGCGAGATCATTGGGTTCCCA 0.458000 10 23 0 0 0.058154 0 0 ESPL1 9700 broad.mit.edu 37 12 53663848 53663848 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr12:53663848G>A ENST00000257934.4 + 3 1213 c.1122G>A c.(1120-1122)ctG>ctA p.L374L ESPL1_ENST00000552462.1_Silent_p.L374L NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 374 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 GCTCTCTTCTGCAGCAGCTGC 0.537000 23 11 0 0 0.076483 0 0 ROS1 6098 broad.mit.edu 37 6 117681060 117681060 + Missense_Mutation SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr6:117681060A>G ENST00000368508.3 - 23 3758 c.3560T>C c.(3559-3561)gTt>gCt p.V1187A ROS1_ENST00000368507.3_Missense_Mutation_p.V1182A|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1187 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TGTGTAGCAAACGGCACTGAT 0.403000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 13 83 0 0 0.093190 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183231 39183231 + Silent SNP A A G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr17:39183231A>G ENST00000361883.5 - 1 223 c.177T>C c.(175-177)agT>agC p.S59S NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 59 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCTGGCAGCAACTGGAGCTGC 0.617000 4 53 0 0 0.014758 0 0 SEMA3A 10371 broad.mit.edu 37 7 83610760 83610760 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr7:83610760G>A ENST00000265362.3 - 14 1843 c.1529C>T c.(1528-1530)gCc>gTc p.A510V SEMA3A_ENST00000436949.1_Missense_Mutation_p.A510V NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 510 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 AGGGAGCTGGGCAACCCCAGC 0.453000 6 25 0 0 0.021553 0 0 GABRB3 2562 broad.mit.edu 37 15 26806279 26806279 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr15:26806279G>A ENST00000541819.2 - 9 1150 c.1048C>T c.(1048-1050)Cgg>Tgg p.R350W GABRB3_ENST00000545868.1_Missense_Mutation_p.R209W|GABRB3_ENST00000299267.4_Missense_Mutation_p.R294W|GABRB3_ENST00000400188.3_Missense_Mutation_p.R223W|GABRB3_ENST00000311550.5_Missense_Mutation_p.R294W P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 294 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AAGGTCTCCCGAAGGTGGGTG 0.473000 12 47 0 0 0.093190 0 0 FZD1 8321 broad.mit.edu 37 7 90895581 90895581 + Silent SNP C C T rs150597135 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr7:90895581C>T ENST00000287934.2 + 1 1799 c.1386C>T c.(1384-1386)atC>atT p.I462I NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 462 autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) CCATCACCATCCTGGCGCTGG 0.647000 27 86 0 0 0.108266 0 0 CD96 10225 broad.mit.edu 37 3 111296359 111296359 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr3:111296359G>C ENST00000283285.5 + 4 685 c.554G>C c.(553-555)aGc>aCc p.S185T CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron NM_198196.2 NP_937839.1 P40200 TACT_HUMAN CD96 molecule 185 Ig-like V-type 2. cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 GAAAACAGCAGCACGGATTCT 0.423000 Opitz Trigonocephaly syndrome 62 331 0 0 0.048971 0 0 MSLNL 401827 broad.mit.edu 37 16 825511 825511 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr16:825511G>C ENST00000293892.3 - 5 1249 c.1250C>G c.(1249-1251)tCt>tGt p.S417C MSLNL_ENST00000442466.1_Intron Q96KJ4 MSLNL_HUMAN mesothelin-like 115 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 GAGCTGGGCAGAACGGCGCTC 0.682000 6 14 0 0 0.029380 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55046878 55046878 + Silent SNP C C A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr19:55046878C>A ENST00000335056.3 + 4 461 c.423C>A c.(421-423)cgC>cgA p.R141R KIR3DX1_ENST00000482404.1_3'UTR endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) TGAGCCTGCGCTGTCACTCAG 0.537000 30 30 7.65355e-07 8.23045e-07 0.050027 1 0 PAPPA2 60676 broad.mit.edu 37 1 176668354 176668354 + Silent SNP G G T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr1:176668354G>T ENST00000367662.3 + 8 4029 c.2865G>T c.(2863-2865)ctG>ctT p.L955L NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 955 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GCTTGGAGCTGCTCTTCCAAC 0.592000 25 126 2.79863e-10 3.08715e-10 0.099896 1 0 KY 339855 broad.mit.edu 37 3 134323141 134323141 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr3:134323141G>A ENST00000508956.1 - 10 1260 c.1203C>T c.(1201-1203)tcC>tcT p.S401S KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.S422S Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 422 cytoskeleton|Z disc peptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2) 21 TGTAGATGTCGGAGTTGCCCT 0.562000 8 60 0 0 0.038147 0 0 SLC2A9 56606 broad.mit.edu 37 4 9828063 9828063 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr4:9828063G>A ENST00000506583.1 - 14 1711 c.1494C>T c.(1492-1494)atC>atT p.I498I SLC2A9_ENST00000264784.3_Silent_p.I527I|SLC2A9_ENST00000309065.3_Silent_p.I498I Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 527 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity p.I498I(1)|p.I527I(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 CAGCTGAGTCGATTTTCTCTT 0.423000 40 77 0 0 0.042209 0 0 APC 324 broad.mit.edu 37 5 112178579 112178579 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr5:112178579G>C ENST00000457016.1 + 16 7668 c.7288G>C c.(7288-7290)Gat>Cat p.D2430H CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.D2430H|APC_ENST00000257430.4_Missense_Mutation_p.D2430H P25054 APC_HUMAN adenomatous polyposis coli 2430 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AAGTGAATCTGATAGATCAGA 0.373000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 17 34 0 0 0.049695 0 0 HR 55806 broad.mit.edu 37 8 21973860 21973860 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr8:21973860G>A ENST00000381418.4 - 18 4940 c.3460C>T c.(3460-3462)Cac>Tac p.H1154Y HR_ENST00000312841.8_Missense_Mutation_p.H1099Y NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 1154 JmjC. DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GGTCCCTGGTGGCAGAGCTGA 0.647000 11 13 0 0 0.069234 0 0 FDX1L 112812 broad.mit.edu 37 19 10426650 10426650 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr19:10426650C>T ENST00000452032.2 - 1 35 c.23G>A c.(22-24)gGa>gAa p.G8E FDX1L_ENST00000494368.1_5'UTR|CTD-2369P2.12_ENST00000586529.1_Intron|FDX1L_ENST00000541276.1_Missense_Mutation_p.G11E|FDX1L_ENST00000393708.3_Missense_Mutation_p.G8E ACTCACGCCTCCCCGGGCCAT 0.662000 3 13 0 0 0.004672 0 0 C10orf71 118461 broad.mit.edu 37 10 50532323 50532323 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr10:50532323C>T ENST00000374144.3 + 3 2021 c.1733C>T c.(1732-1734)gCt>gTt p.A578V C10orf71_ENST00000323868.4_Missense_Mutation_p.A578V Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 578 endometrium(1) 1 GACCCTACAGCTGACCCCAGT 0.547000 14 8 0 0 0.020292 0 0 ESF1 51575 broad.mit.edu 37 20 13753183 13753183 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr20:13753183C>T ENST00000202816.1 - 5 1335 c.1228G>A c.(1228-1230)Gaa>Aaa p.E410K NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 410 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 GGGGCATCTTCAGGAATACTT 0.343000 17 904 0 0 0.024245 0 0 ENTPD6 955 broad.mit.edu 37 20 25199204 25199204 + Silent SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr20:25199204G>A ENST00000360031.2 + 10 1076 c.894G>A c.(892-894)ctG>ctA p.L298L ENTPD6_ENST00000433259.2_Silent_p.L299L|ENTPD6_ENST00000354989.5_Silent_p.L282L|ENTPD6_ENST00000376652.4_Silent_p.L299L NM_001247.2 NP_001238.2 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 (putative) 299 Golgi membrane|integral to membrane nucleoside-diphosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 GGCTCGGGCTGATGTCGGCAC 0.657000 6 9 0 0 0.038147 0 0 PNLIP 5406 broad.mit.edu 37 10 118306919 118306919 + Missense_Mutation SNP C C T rs142749694 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr10:118306919C>T ENST00000369221.2 + 3 188 c.160C>T c.(160-162)Cgc>Tgc p.R54C PNLIP_ENST00000470562.1_3'UTR NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 54 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity p.R54C(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TGTCAACACCCGCTTCCTCCT 0.468000 35 16 0 0 0.074837 0 0 MPZL1 9019 broad.mit.edu 37 1 167757121 167757121 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr1:167757121C>T ENST00000359523.2 + 6 975 c.773C>T c.(772-774)tCa>tTa p.S258L MPZL1_ENST00000392121.3_Missense_Mutation_p.S108L|MPZL1_ENST00000403379.3_3'UTR NM_003953.5|NM_024569.4 NP_003944.1|NP_078845.3 O95297 MPZL1_HUMAN myelin protein zero-like 1 258 cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane protein binding|structural molecule activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2) 15 all_hematologic(923;0.215) ATTAACAAGTCAGAGTCTGTG 0.438000 24 30 0 0 0.083992 0 0 PHKA2 5256 broad.mit.edu 37 X 18912411 18912411 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chrX:18912411G>A ENST00000379942.4 - 32 4113 c.3448C>T c.(3448-3450)Ctc>Ttc p.L1150F PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA|PHKA2-AS1_ENST00000452900.1_RNA NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 1150 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) GTGTCCGAGAGCAGCGTCAGC 0.612000 28 12 0 0 0.108266 0 0 GDF11 10220 broad.mit.edu 37 12 56143303 56143303 + Silent SNP T T C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr12:56143303T>C ENST00000257868.5 + 3 898 c.861T>C c.(859-861)ctT>ctC p.L287L NM_005811.3 NP_005802.1 O95390 GDF11_HUMAN growth differentiation factor 11 287 growth|mesoderm development|skeletal system development extracellular space cytokine activity|growth factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1) 12 TCATGGAGCTTCGAGTCCTAG 0.572000 3 64 0 0 0.014758 0 0 ASPM 259266 broad.mit.edu 37 1 197071233 197071233 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr1:197071233C>G ENST00000367409.4 - 18 7404 c.7148G>C c.(7147-7149)aGa>aCa p.R2383T ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2383 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 GTGTCTTTGTCTGAGATAATG 0.433000 37 151 0 0 0.086207 0 0 CD2BP2 10421 broad.mit.edu 37 16 30364880 30364880 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr16:30364880G>A ENST00000305596.3 - 5 792 c.617C>T c.(616-618)gCc>gTc p.A206V CD2BP2_ENST00000569466.1_Missense_Mutation_p.A206V NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 206 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 CATCTGGTCGGCCAACCCGGA 0.657000 3 22 0 0 0.009096 0 0 ESF1 51575 broad.mit.edu 37 20 13698017 13698017 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr20:13698017C>G ENST00000202816.1 - 13 2367 c.2260G>C c.(2260-2262)Gag>Cag p.E754Q NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 754 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 ATGGTTACCTCAAAGTCATCC 0.378000 20 965 0 0 0.033300 0 0 APC 324 broad.mit.edu 37 5 112177885 112177885 + Missense_Mutation SNP G G C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr5:112177885G>C ENST00000457016.1 + 16 6974 c.6594G>C c.(6592-6594)ttG>ttC p.L2198F CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.L2198F|APC_ENST00000257430.4_Missense_Mutation_p.L2198F P25054 APC_HUMAN adenomatous polyposis coli 2198 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) ATAAAAGTTTGATTACTGGAA 0.358000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 13 36 0 0 0.093190 0 0 MACF1 23499 broad.mit.edu 37 1 39797559 39797559 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr1:39797559G>A ENST00000564288.1 + 37 6076 c.5299G>A c.(5299-5301)Gaa>Aaa p.E1767K MACF1_ENST00000567887.1_Missense_Mutation_p.E1804K|MACF1_ENST00000289893.4_Missense_Mutation_p.E207K|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.E1772K|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1772 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCGGTTGCTGGAAGCTCAGCT 0.498000 11 35 0 0 0.080935 0 0 DNAH2 146754 broad.mit.edu 37 17 7667311 7667311 + Silent SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr17:7667311C>G ENST00000572933.1 + 19 4601 c.3141C>G c.(3139-3141)ctC>ctG p.L1047L DNAH2_ENST00000389173.2_Silent_p.L1047L Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1047 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTGGGCGCCTCCTGGAGCTGC 0.622000 7 49 0 0 0.038147 0 0 CNNM3 26505 broad.mit.edu 37 2 97490833 97490833 + Missense_Mutation SNP G G A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr2:97490833G>A ENST00000305510.3 + 2 1292 c.1264G>A c.(1264-1266)Gag>Aag p.E422K CNNM3_ENST00000377060.3_Intron|ANKRD23_ENST00000476975.1_Intron NM_017623.4 NP_060093.3 Q8NE01 CNNM3_HUMAN cyclin M3 422 CBS 2. ion transport integral to membrane|plasma membrane protein binding NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2) 13 GGTGAACAACGAGGGTGAAGG 0.602000 6 34 0 0 0.038147 0 0 TNFAIP6 7130 broad.mit.edu 37 2 152226720 152226720 + Missense_Mutation SNP A A C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr2:152226720A>C ENST00000243347.3 + 4 656 c.581A>C c.(580-582)gAa>gCa p.E194A NM_007115.3 NP_009046.2 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 194 CUB. cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.131) GATTATGTTGAAATATATGAC 0.413000 32 166 0 0 0.069456 0 0 IL4I1 259307 broad.mit.edu 37 19 50399101 50399101 + Missense_Mutation SNP C C T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr19:50399101C>T ENST00000595948.1 - 5 909 c.289G>A c.(289-291)Gcc>Acc p.A97T IL4I1_ENST00000341114.3_Missense_Mutation_p.A97T|IL4I1_ENST00000391826.2_Missense_Mutation_p.A75T NM_001258018.1 NP_001244947.1 Q96RQ9 OXLA_HUMAN interleukin 4 induced 1 75 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) AGCACCTTGGCGGCCACCAGC 0.637000 12 116 0 0 0.024245 0 0 ITGA3 3675 broad.mit.edu 37 17 48145541 48145541 + Missense_Mutation SNP C C G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr17:48145541C>G ENST00000320031.8 + 4 866 c.536C>G c.(535-537)aCc>aGc p.T179S ITGA3_ENST00000544892.1_Intron|ITGA3_ENST00000007722.7_Missense_Mutation_p.T179S NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 179 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 GACTGGCAGACCTACCACAAC 0.582000 8 85 0 0 0.038147 0 0 SPEN 23013 broad.mit.edu 37 1 16263993 16263994 + Frame_Shift_Ins INS - - C rs141820706 by1000genomes TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:16263993_16263994insC ENST00000375759.3 + 12 10566_10567 c.10362_10363insC c.(10360-10365)aaagccfs p.KA3454fs NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3454 Pro-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CTGCCCCAAAACAGCCGTTGTT 0.579 7 86 --- --- --- --- CD58 965 broad.mit.edu 37 1 117087209 117087209 + Frame_Shift_Del DEL A A - TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:117087209delA ENST00000457047.2 - 2 141 c.88delT c.(88-90)ccfs p.S30fs CD58_ENST00000369487.3_Frame_Shift_Del_p.S30fs|CD58_ENST00000369489.5_Frame_Shift_Del_p.S30fs NM_001144822.1 NP_001138294.1 P19256 LFA3_HUMAN CD58 molecule 30 blood coagulation|cell-cell adhesion|leukocyte migration anchored to membrane|integral to plasma membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Lung SC(450;0.225) all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577) Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121) ATTTGTTGGGAAAAACAGCTG 0.343 14 12 --- --- --- --- SRGAP2-AS1 100873165 broad.mit.edu 37 1 121137791 121137793 + RNA DEL CCA CCA - rs28552466 by1000genomes TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:121137791_121137793delCCA ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGC 0.631 2 4 --- --- --- --- PDE4DIP 9659 broad.mit.edu 37 1 144994620 144994623 + Frame_Shift_Del DEL CATA CATA - rs149688356 byFrequency TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr1:144994620_144994623delCATA ENST00000369359.4 - 4 558_561 c.520_523delTATG c.(520-525)agfs p.YE174fs PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.YE174fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.YE103fs|PDE4DIP_ENST00000369348.3_Frame_Shift_Del_p.YE174fs|PDE4DIP_ENST00000369349.3_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000369351.3_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000369347.4_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.YE37fs Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 37 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CGGCTGGCCTCATACTTCTGTTGC 0.608 T PDGFRB MPD 9 156 --- --- --- --- FHL2 2274 broad.mit.edu 37 2 105977793 105977794 + Frame_Shift_Ins INS - - G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:105977793_105977794insG ENST00000409177.1 - 6 1255_1256 c.1134_1135insC c.(1132-1137)ggtcctfs p.P379fs FHL2_ENST00000408995.1_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000358129.4_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000393353.3_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000393352.3_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000336660.5_3'UTR|FHL2_ENST00000409807.1_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000322142.8_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000344213.4_Frame_Shift_Ins_p.P373fs Q14192 FHL2_HUMAN four and a half LIM domains 2 263 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent actin cytoskeleton|focal adhesion|nucleus androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 TCTGTGAGGAAGCCACGCCCCA 0.500 30 64 --- --- --- --- FARP2 9855 broad.mit.edu 37 2 242433486 242433487 + Frame_Shift_Ins INS - - G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr2:242433486_242433487insG ENST00000264042.3 + 27 3281_3282 c.3111_3112insG c.(3109-3114)gagcccfs p.P1038fs STK25_ENST00000316586.4_3'UTR NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 1038 axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) TCGTGCAGGATGGCCCCCAACC 0.634 7 78 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1389392 1389393 + Frame_Shift_Del DEL CA CA - rs34525526 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr4:1389392_1389393delCA ENST00000324803.4 + 1 4053_4054 c.1093_1094delCA c.(1093-1095)cfs p.H365fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 365 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CCCGCCTGCTCACACACGTGCC 0.658 7 287 --- --- --- --- WHSC1 7468 broad.mit.edu 37 4 1957868 1957869 + Frame_Shift_Ins INS - - C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr4:1957868_1957869insC ENST00000382895.3 + 17 3265_3266 c.2834_2835insC c.(2833-2835)gagfs p.E945fs WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Frame_Shift_Ins_p.E293fs|WHSC1_ENST00000508803.1_Frame_Shift_Ins_p.E945fs|WHSC1_ENST00000382891.5_Frame_Shift_Ins_p.E945fs|WHSC1_ENST00000382892.2_Frame_Shift_Ins_p.E945fs NM_133330.2 NP_579877.1 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 945 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GGGGACCGGGGCAGCCGCTACC 0.510 T IGH@ MM 7 236 --- --- --- --- FBXO30 84085 broad.mit.edu 37 6 146126707 146126708 + Frame_Shift_Ins INS - - A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr6:146126707_146126708insA ENST00000237281.4 - 2 1000_1001 c.834_835insT c.(832-837)taacacfs p.*H278fs NM_032145.4 NP_115521.3 Q8TB52 FBX30_HUMAN F-box protein 30 278 ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) GCAGAAGTGTCATAAGAACTTG 0.356 40 111 --- --- --- --- PRSS3P2 154754 broad.mit.edu 37 7 142479817 142479817 + RNA DEL G G - TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr7:142479817delG ENST00000603901.1 + 0 40 NR_001296.3 TGCTTGTTAAGGATTTCTAAC 0.557 8 63 --- --- --- --- ERLIN2 11160 broad.mit.edu 37 8 37595472 37595473 + Frame_Shift_Ins INS - - T TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr8:37595472_37595473insT ENST00000276461.5 + 2 99_100 c.32_33insT c.(31-33)gtcfs p.V11fs ERLIN2_ENST00000519638.1_Frame_Shift_Ins_p.V11fs|ERLIN2_ENST00000397228.2_Frame_Shift_Ins_p.V11fs|ERLIN2_ENST00000518586.1_Frame_Shift_Ins_p.V11fs|ERLIN2_ENST00000523887.1_Frame_Shift_Ins_p.V11fs|ERLIN2_ENST00000523107.1_Frame_Shift_Ins_p.V11fs|ERLIN2_ENST00000335171.6_Frame_Shift_Ins_p.V11fs NM_007175.6 NP_009106.1 O94905 ERLN2_HUMAN ER lipid raft associated 2 11 ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane protein binding NS(1)|large_intestine(1)|lung(5) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GTGGCTGTGGCTTCCAGTTTCT 0.500 13 168 --- --- --- --- VPS13B 157680 broad.mit.edu 37 8 100479733 100479733 + Frame_Shift_Del DEL G G - TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr8:100479733delG ENST00000395996.1 + 24 3648 c.3537delG c.(3535-3537)atfs p.M1179fs VPS13B_ENST00000358544.2_Frame_Shift_Del_p.M1179fs|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.M1179fs Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1179 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TGGAACCTATGGGTTGCACCT 0.443 85 348 --- --- --- --- EPB41L4B 54566 broad.mit.edu 37 9 111945031 111945031 + Frame_Shift_Del DEL A A - TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr9:111945031delA ENST00000374566.3 - 24 2982 c.2465delT c.(2464-2466)tcfs p.F822fs NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 822 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCCTGTGGTGAAAGTATCAGG 0.418 63 50 --- --- --- --- WNK1 65125 broad.mit.edu 37 12 977668 977669 + Frame_Shift_Del DEL CT CT - TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr12:977668_977669delCT ENST00000537687.1 + 9 3419_3420 c.2776_2777delCT c.(2776-2778)cfs p.L926fs WNK1_ENST00000340908.4_Intron|WNK1_ENST00000530271.2_Frame_Shift_Del_p.L1011fs|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000574564.1_Frame_Shift_Del_p.L225fs|WNK1_ENST00000535572.1_Intron NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 0 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GGGATCTCCCCTCTCTAGTATT 0.431 9 55 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 2 4 --- --- --- --- FAM57B 83723 broad.mit.edu 37 16 30041770 30041771 + Frame_Shift_Ins INS - - C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr16:30041770_30041771insC ENST00000380495.4 - 1 809_810 c.78_79insG c.(76-81)ctcccafs p.LP26fs NM_031478.4 NP_113666.2 Q71RH2 FA57B_HUMAN family with sequence similarity 57, member B 26 endoplasmic reticulum|integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 CGTAGCTGGGGCAGCCGCTGGA 0.634 9 34 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579410 7579420 + Frame_Shift_Del DEL GGGGCCAGGAG GGGGCCAGGAG - TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:7579410_7579420delGGGGCCAGGAG ENST00000420246.2 - 4 399_409 c.267_277delCTCCTGGCCCC c.(265-279)cctgfs p.PSWPL89fs TP53_ENST00000269305.4_Frame_Shift_Del_p.PSWPL89fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.PSWPL89fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PSWPL89fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.PSWPL89fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.PSWPL89fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 89 Interaction with WWOX. P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.W91*(20)|p.0?(8)|p.S90fs*59(6)|p.L93fs*30(5)|p.A88fs*32(3)|p.A76_S90del15(3)|p.G59fs*23(3)|p.P85fs*58(1)|p.W91fs*57(1)|p.W91fs*13(1)|p.A88fs*52(1)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93M(1)|p.P87fs*54(1)|p.P92fs*57(1)|p.S33fs*23(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.P13fs*18(1)|p.S90F(1)|p.P92A(1)|p.P92L(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GAAGATGACAGGGGCCAGGAGGGGGCTGGTG 0.626 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 23 52 --- --- --- --- SYNRG 11276 broad.mit.edu 37 17 35914100 35914101 + Frame_Shift_Ins INS - - G rs147693241 by1000genomes TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr17:35914100_35914101insG ENST00000339208.6 - 14 1864_1865 c.1724_1725insC c.(1723-1725)agcfs p.S575fs SYNRG_ENST00000394378.2_Frame_Shift_Ins_p.S497fs|SYNRG_ENST00000345615.4_Frame_Shift_Ins_p.S497fs|SYNRG_ENST00000591288.1_Frame_Shift_Ins_p.S414fs|SYNRG_ENST00000585472.1_Frame_Shift_Ins_p.S496fs|SYNRG_ENST00000346661.4_Frame_Shift_Ins_p.S575fs|SYNRG_ENST00000502449.2_Frame_Shift_Ins_p.S497fs|SYNRG_ENST00000588194.1_5'UTR NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 575 Interaction with A1P1G1 and A1P1G2. endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CACTATCGGCTGTTTTAAAATC 0.401 15 146 --- --- --- --- ZNF155 7711 broad.mit.edu 37 19 44501449 44501450 + Frame_Shift_Ins INS - - A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chr19:44501449_44501450insA ENST00000270014.2 + 5 1568_1569 c.1440_1441insA c.(1438-1443)caaaaafs p.QK480fs ZNF155_ENST00000590615.1_Frame_Shift_Ins_p.QK480fs|RP11-15A1.7_ENST00000586860.1_RNA|RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000407951.2_Frame_Shift_Ins_p.QK491fs NM_001260487.1|NM_198089.2 NP_001247416.1|NP_932355.2 Q12901 ZN155_HUMAN zinc finger protein 155 480 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 15 Prostate(69;0.0352) TCCACTGCCAGAAAAAACCATT 0.455 23 86 --- --- --- --- RBM10 8241 broad.mit.edu 37 X 47030561 47030563 + In_Frame_Del DEL GGA GGA - TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e e879b6a8-15e5-434f-9d46-71e58b6d25c8 g.chrX:47030561_47030563delGGA ENST00000377604.3 + 4 1078_1080 c.336_338delGGA c.(334-339)ggg>gg p.GE112del RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 112 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 CCGAGCAAGGggaggaggaggag 0.660 10 127 --- --- --- --- CD58 965 broad.mit.edu 37 1 117087209 117087209 + Frame_Shift_Del DEL A A - TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr1:117087209delA ENST00000457047.2 - 2 141 c.88delT c.(88-90)ccfs p.S30fs CD58_ENST00000369487.3_Frame_Shift_Del_p.S30fs|CD58_ENST00000369489.5_Frame_Shift_Del_p.S30fs NM_001144822.1 NP_001138294.1 P19256 LFA3_HUMAN CD58 molecule 30 blood coagulation|cell-cell adhesion|leukocyte migration anchored to membrane|integral to plasma membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Lung SC(450;0.225) all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577) Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121) ATTTGTTGGGAAAAACAGCTG 0.343 14 12 --- --- --- --- SRGAP2-AS1 100873165 broad.mit.edu 37 1 121137791 121137793 + RNA DEL CCA CCA - rs28552466 by1000genomes TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr1:121137791_121137793delCCA ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGC 0.631 2 4 --- --- --- --- PDE4DIP 9659 broad.mit.edu 37 1 144994620 144994623 + Frame_Shift_Del DEL CATA CATA - rs149688356 byFrequency TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr1:144994620_144994623delCATA ENST00000369359.4 - 4 558_561 c.520_523delTATG c.(520-525)agfs p.YE174fs PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.YE103fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.YE174fs|PDE4DIP_ENST00000369347.4_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000369348.3_Frame_Shift_Del_p.YE174fs|PDE4DIP_ENST00000369349.3_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000369351.3_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Del_p.YE37fs Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 37 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CGGCTGGCCTCATACTTCTGTTGC 0.608 T PDGFRB MPD 9 156 --- --- --- --- FHL2 2274 broad.mit.edu 37 2 105977793 105977794 + Frame_Shift_Ins INS - - G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr2:105977793_105977794insG ENST00000409177.1 - 6 1255_1256 c.1134_1135insC c.(1132-1137)ggtcctfs p.P379fs FHL2_ENST00000393353.3_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000393352.3_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000358129.4_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000408995.1_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000409807.1_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000336660.5_3'UTR|FHL2_ENST00000322142.8_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000344213.4_Frame_Shift_Ins_p.P373fs Q14192 FHL2_HUMAN four and a half LIM domains 2 263 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent actin cytoskeleton|focal adhesion|nucleus androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 TCTGTGAGGAAGCCACGCCCCA 0.500 30 64 --- --- --- --- FARP2 9855 broad.mit.edu 37 2 242433486 242433487 + Frame_Shift_Ins INS - - G TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr2:242433486_242433487insG ENST00000264042.3 + 27 3281_3282 c.3111_3112insG c.(3109-3114)gagcccfs p.P1038fs STK25_ENST00000316586.4_3'UTR NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 1038 axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) TCGTGCAGGATGGCCCCCAACC 0.634 7 78 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1389392 1389393 + Frame_Shift_Del DEL CA CA - rs34525526 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr4:1389392_1389393delCA ENST00000324803.4 + 1 4053_4054 c.1093_1094delCA c.(1093-1095)cfs p.H365fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 365 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CCCGCCTGCTCACACACGTGCC 0.658 7 287 --- --- --- --- FBXO30 84085 broad.mit.edu 37 6 146126707 146126708 + Frame_Shift_Ins INS - - A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr6:146126707_146126708insA ENST00000237281.4 - 2 1000_1001 c.834_835insT c.(832-837)taacacfs p.*H278fs NM_032145.4 NP_115521.3 Q8TB52 FBX30_HUMAN F-box protein 30 278 ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) GCAGAAGTGTCATAAGAACTTG 0.356 40 111 --- --- --- --- TBP 6908 broad.mit.edu 37 6 170871013 170871014 + In_Frame_Ins INS - - CAG rs72320253 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr6:170871013_170871014insCAG ENST00000392092.2 + 3 468_469 c.189_190insCAG c.(187-192)caagca>caCAGagca p.63_63Q>HR TBP_ENST00000540980.1_In_Frame_Ins_p.43_43Q>HR|TBP_ENST00000230354.6_In_Frame_Ins_p.63_63Q>HR NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 63 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q63_Q64insQ(1)|p.Q63Q(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacaacaacagcagcagca 0.550 11 47 --- --- --- --- VPS13B 157680 broad.mit.edu 37 8 100479733 100479733 + Frame_Shift_Del DEL G G - TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr8:100479733delG ENST00000395996.1 + 24 3648 c.3537delG c.(3535-3537)atfs p.M1179fs VPS13B_ENST00000358544.2_Frame_Shift_Del_p.M1179fs|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.M1179fs Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1179 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TGGAACCTATGGGTTGCACCT 0.443 85 348 --- --- --- --- EPB41L4B 54566 broad.mit.edu 37 9 111945031 111945031 + Frame_Shift_Del DEL A A - TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr9:111945031delA ENST00000374566.3 - 24 2982 c.2465delT c.(2464-2466)tcfs p.F822fs NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 822 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCCTGTGGTGAAAGTATCAGG 0.418 63 50 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651191 1651199 + In_Frame_Del DEL GGCTGTGGA GGCTGTGGA - rs71025763 TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr11:1651191_1651199delGGCTGTGGA ENST00000399676.2 + 1 159_167 c.121_129delGGCTGTGGA c.(121-129)del p.GCG47del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 47 keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ctgtggctccggctgtggaggctgtgggg 0.713 15 14 --- --- --- --- WNK1 65125 broad.mit.edu 37 12 977668 977669 + Frame_Shift_Del DEL CT CT - TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr12:977668_977669delCT ENST00000537687.1 + 9 3419_3420 c.2776_2777delCT c.(2776-2778)cfs p.L926fs WNK1_ENST00000574564.1_Frame_Shift_Del_p.L225fs|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Frame_Shift_Del_p.L1011fs NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 0 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GGGATCTCCCCTCTCTAGTATT 0.431 9 55 --- --- --- --- FAM57B 83723 broad.mit.edu 37 16 30041770 30041771 + Frame_Shift_Ins INS - - C TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr16:30041770_30041771insC ENST00000380495.4 - 1 809_810 c.78_79insG c.(76-81)ctcccafs p.LP26fs NM_031478.4 NP_113666.2 Q71RH2 FA57B_HUMAN family with sequence similarity 57, member B 26 endoplasmic reticulum|integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 CGTAGCTGGGGCAGCCGCTGGA 0.634 9 34 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579410 7579420 + Frame_Shift_Del DEL GGGGCCAGGAG GGGGCCAGGAG - TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr17:7579410_7579420delGGGGCCAGGAG ENST00000420246.2 - 4 399_409 c.267_277delCTCCTGGCCCC c.(265-279)cctgfs p.PSWPL89fs TP53_ENST00000413465.2_Frame_Shift_Del_p.PSWPL89fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.PSWPL89fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PSWPL89fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.PSWPL89fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.PSWPL89fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 89 Interaction with WWOX. P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.W91*(20)|p.0?(8)|p.S90fs*59(6)|p.L93fs*30(5)|p.A88fs*32(3)|p.A76_S90del15(3)|p.G59fs*23(3)|p.P85fs*58(1)|p.W91fs*57(1)|p.W91fs*13(1)|p.A88fs*52(1)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93M(1)|p.P87fs*54(1)|p.P92fs*57(1)|p.S33fs*23(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.P13fs*18(1)|p.S90F(1)|p.P92A(1)|p.P92L(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GAAGATGACAGGGGCCAGGAGGGGGCTGGTG 0.626 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 23 52 --- --- --- --- SYNRG 11276 broad.mit.edu 37 17 35914100 35914101 + Frame_Shift_Ins INS - - G rs147693241 by1000genomes TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr17:35914100_35914101insG ENST00000339208.6 - 14 1864_1865 c.1724_1725insC c.(1723-1725)agcfs p.S575fs SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000585472.1_Frame_Shift_Ins_p.S496fs|SYNRG_ENST00000502449.2_Frame_Shift_Ins_p.S497fs|SYNRG_ENST00000394378.2_Frame_Shift_Ins_p.S497fs|SYNRG_ENST00000345615.4_Frame_Shift_Ins_p.S497fs|SYNRG_ENST00000591288.1_Frame_Shift_Ins_p.S414fs|SYNRG_ENST00000346661.4_Frame_Shift_Ins_p.S575fs NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 575 Interaction with A1P1G1 and A1P1G2. endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CACTATCGGCTGTTTTAAAATC 0.401 15 146 --- --- --- --- ZNF155 7711 broad.mit.edu 37 19 44501449 44501450 + Frame_Shift_Ins INS - - A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chr19:44501449_44501450insA ENST00000270014.2 + 5 1568_1569 c.1440_1441insA c.(1438-1443)caaaaafs p.QK480fs ZNF155_ENST00000590615.1_Frame_Shift_Ins_p.QK480fs|RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000407951.2_Frame_Shift_Ins_p.QK491fs|RP11-15A1.7_ENST00000589021.1_RNA NM_001260487.1|NM_198089.2 NP_001247416.1|NP_932355.2 Q12901 ZN155_HUMAN zinc finger protein 155 480 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 15 Prostate(69;0.0352) TCCACTGCCAGAAAAAACCATT 0.455 23 86 --- --- --- --- RBM10 8241 broad.mit.edu 37 X 47030561 47030563 + In_Frame_Del DEL GGA GGA - TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-11B-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4dfcbe35-9e78-4629-8a00-96fee7062d1e 9432f890-557b-40b1-9db4-89bffd2748f8 g.chrX:47030561_47030563delGGA ENST00000377604.3 + 4 1078_1080 c.336_338delGGA c.(334-339)ggg>gg p.GE112del RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron|RBM10_ENST00000468791.1_3'UTR NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 112 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 CCGAGCAAGGggaggaggaggag 0.660 10 127 --- --- --- ---