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 LAMA1 284217 broad.mit.edu 37 18 7040152 7040152 + Missense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr18:7040152G>A ENST00000389658.3 - 10 1438 c.1345C>T c.(1345-1347)Ccg>Tcg p.P449S NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 449 Laminin EGF-like 3. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding p.P449S(1) NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACACAGGTCGGGTAATCCTTA 0.527000 33 23 0 0 0.012213 0 0 MYRF 745 broad.mit.edu 37 11 61547315 61547315 + Splice_Site SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr11:61547315C>T ENST00000278836.5 + 17 2345 c.2247_splice c.e17-1 p.S750_splice MYRF_ENST00000389602.4_Splice_Site_p.S141_splice|MYRF_ENST00000327797.1_Splice_Site_p.S396_splice|MYRF_ENST00000265460.5_Splice_Site_p.S741_splice|TMEM258_ENST00000535042.1_Intron NM_001127392.1 NP_001120864.1 myelin regulatory factor GGTCCTCAGTCATCGTCCGTG 0.617000 4 34 0 0 0.009096 0 0 SEC14L1 6397 broad.mit.edu 37 17 75208083 75208083 + Missense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr17:75208083G>T ENST00000413679.2 + 15 1966 c.1663G>T c.(1663-1665)Gtg>Ttg p.V555L SEC14L1_ENST00000430767.4_Missense_Mutation_p.V555L|SEC14L1_ENST00000591437.1_Missense_Mutation_p.V521L|SEC14L1_ENST00000392476.2_Missense_Mutation_p.V555L|SEC14L1_ENST00000443798.4_Missense_Mutation_p.V555L|SEC14L1_ENST00000585618.1_Missense_Mutation_p.V555L|SEC14L1_ENST00000431431.2_Missense_Mutation_p.V521L|SEC14L1_ENST00000436233.4_Missense_Mutation_p.V555L NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470.1|NP_001137471.1|NP_002994.3 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 555 GOLD. transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 GGATTTCGACGTGTGCAAAGG 0.537000 79 282 1.07363e-35 1.55022e-35 0.014410 1 0 PCDH20 64881 broad.mit.edu 37 13 61986212 61986212 + Missense_Mutation SNP C C G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr13:61986212C>G ENST00000409186.1 - 5 4125 c.2020G>C c.(2020-2022)Gtc>Ctc p.V674L PCDH20_ENST00000409204.4_Missense_Mutation_p.V674L Q8N6Y1 PCD20_HUMAN protocadherin 20 647 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GAGAGGGCGACCCATCCATTT 0.458000 25 45 0 0 0.016522 0 0 CARD6 84674 broad.mit.edu 37 5 40852497 40852497 + Nonsense_Mutation SNP A A T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr5:40852497A>T ENST00000254691.5 + 3 1262 c.1063A>T c.(1063-1065)Aag>Tag p.K355* CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 355 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 TGAAGATAGCAAGGAGGATTT 0.463000 10 56 0 0 0.006214 0 0 PLCD1 5333 broad.mit.edu 37 3 38065883 38065883 + Missense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr3:38065883C>A ENST00000463876.1 - 1 395 c.42G>T c.(40-42)gaG>gaT p.E14D PLCD1_ENST00000334661.4_Intron NM_001130964.1 NP_001124436.1 P51178 PLCD1_HUMAN phospholipase C, delta 1 0 intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) GCAGGTAGAGCTCCCTGGAGC 0.701000 9 22 9.31168e-06 1.04801e-05 0.016723 1 0 EEPD1 80820 broad.mit.edu 37 7 36338768 36338768 + Missense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr7:36338768G>A ENST00000242108.4 + 8 2381 c.1663G>A c.(1663-1665)Ggg>Agg p.G555R EEPD1_ENST00000534978.1_Missense_Mutation_p.G555R NM_030636.2 NP_085139.2 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family domain containing 1 555 DNA repair DNA binding endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1) 18 GAACGGCAGCGGGGTGGCCTT 0.592000 18 29 0 0 0.007413 0 0 HTR2C 3358 broad.mit.edu 37 X 113965991 113965991 + Silent SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chrX:113965991C>T ENST00000276198.1 + 4 1052 c.324C>T c.(322-324)ccC>ccT p.P108P HTR2C_ENST00000371950.3_Silent_p.P108P|HTR2C_ENST00000371951.1_Silent_p.P108P NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 108 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) TTGTCATGCCCCTGTCTCTCC 0.378000 47 79 0 0 0.014410 0 0 RBM46 166863 broad.mit.edu 37 4 155719995 155719995 + Silent SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr4:155719995G>T ENST00000510397.1 + 4 860 c.681G>T c.(679-681)gtG>gtT p.V227V RBM46_ENST00000514866.1_Silent_p.V227V|RBM46_ENST00000281722.3_Silent_p.V227V NM_001277173.1 NP_001264102.1 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 227 nucleotide binding|RNA binding p.V227V(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0854) AGAAAGAGGTGGATGAGGAAA 0.333000 4 7 0.014758 0.0153816 0.014758 1 0 ACSM5 54988 broad.mit.edu 37 16 20422953 20422953 + Silent SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr16:20422953G>T ENST00000331849.4 + 2 294 c.147G>T c.(145-147)gtG>gtT p.V49V ACSM5_ENST00000575584.1_Silent_p.V49V NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 49 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 GGCAGCTGGTGCCTGAGTACT 0.577000 15 30 4.93089e-13 6.29114e-13 0.020292 1 0 FTMT 94033 broad.mit.edu 37 5 121188315 121188315 + Silent SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr5:121188315G>T ENST00000321339.1 + 1 666 c.657G>T c.(655-657)ggG>ggT p.G219G NM_177478.1 NP_803431.1 Q8N4E7 FTMT_HUMAN ferritin mitochondrial 219 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) TGAAGATGGGGGCCCCGGATG 0.512000 39 101 8.16277e-20 1.11345e-19 0.027894 1 0 XIRP2 129446 broad.mit.edu 37 2 168104328 168104328 + Silent SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr2:168104328G>A ENST00000409195.1 + 9 6515 c.6426G>A c.(6424-6426)aaG>aaA p.K2142K XIRP2_ENST00000295237.9_Silent_p.K2142K|XIRP2_ENST00000409273.1_Silent_p.K1920K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1967 Pro-rich. actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TTCATATAAAGAGTCCTAAAA 0.398000 6 101 0 0 0.021553 0 0 CLEC3A 10143 broad.mit.edu 37 16 78064472 78064472 + Nonsense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr16:78064472G>T ENST00000299642.4 + 3 440 c.355G>T c.(355-357)Gaa>Taa p.E119* RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000565808.1_3'UTR|CLEC3A_ENST00000575655.1_Nonsense_Mutation_p.E110* NM_001244755.1 NP_001231684.1 O75596 CLC3A_HUMAN C-type lectin domain family 3, member A 110 C-type lectin. skeletal system development extracellular region sugar binding p.E110*(1)|p.E110Q(1) NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 GAACTCCGACGAAATCAACGC 0.478000 15 58 2.32078e-09 2.76997e-09 0.024245 1 0 MANEAL 149175 broad.mit.edu 37 1 38265344 38265344 + Silent SNP C C G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:38265344C>G ENST00000373045.6 + 4 1224 c.843C>G c.(841-843)gcC>gcG p.A281A MANEAL_ENST00000397631.3_Intron|MANEAL_ENST00000329006.5_Silent_p.A59A|MANEAL_ENST00000525897.1_Silent_p.A87A NM_001113482.1 NP_001106954.1 Q5VSG8 MANEL_HUMAN mannosidase, endo-alpha-like 281 Golgi membrane|integral to membrane hydrolase activity endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3) 7 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AGGCCTGGGCCCACCTCCTGA 0.577000 22 83 0 0 0.010504 0 0 KMT2C 58508 broad.mit.edu 37 7 151851382 151851382 + Missense_Mutation SNP T T G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr7:151851382T>G ENST00000355193.2 - 48 12498 c.12280A>C c.(12280-12282)Att>Ctt p.I4094L KMT2C_ENST00000485241.1_5'UTR|KMT2C_ENST00000262189.6_Missense_Mutation_p.I4037L lysine (K)-specific methyltransferase 2C AGAATTGGAATGATGGGGGAC 0.443000 23 55 0 0 0.014323 0 0 DEPDC1 55635 broad.mit.edu 37 1 68944887 68944887 + Silent SNP T T C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:68944887T>C ENST00000456315.2 - 10 2166 c.2052A>G c.(2050-2052)caA>caG p.Q684Q DEPDC1_ENST00000370966.5_Silent_p.Q400Q|RP4-694A7.2_ENST00000425820.1_RNA NM_001114120.1 NP_001107592.1 Q5TB30 DEP1A_HUMAN DEP domain containing 1 684 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) AAGAGGGTACTTGAAGAATTT 0.373000 11 33 0 0 0.008291 0 0 CIDEA 1149 broad.mit.edu 37 18 12262951 12262951 + Missense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr18:12262951C>A ENST00000320477.9 + 2 231 c.166C>A c.(166-168)Cag>Aag p.Q56K CIDEA_ENST00000521296.1_3'UTR NM_001279.3 NP_001270.1 O60543 CIDEA_HUMAN cell death-inducing DFFA-like effector a 56 CIDE-N. DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis mitochondrial envelope|nucleus protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2) 13 AAGCAGCCTGCAGGAGCTCAT 0.637000 8 37 1.06961e-07 1.24648e-07 0.003080 1 0 PSIP1 11168 broad.mit.edu 37 9 15468839 15468839 + Missense_Mutation SNP T T C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr9:15468839T>C ENST00000380733.4 - 14 1552 c.1209A>G c.(1207-1209)atA>atG p.I403M PSIP1_ENST00000380738.4_Missense_Mutation_p.I403M O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 403 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1) 9 GBM - Glioblastoma multiforme(50;2.38e-06) TGAATCGCCGTATCTGAGAAA 0.299000 18 19 0 0 0.008871 0 0 GNAO1 2775 broad.mit.edu 37 16 56377861 56377861 + Nonstop_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr16:56377861G>T ENST00000262494.7 + 8 1324 c.1064G>T c.(1063-1065)tGa>tTa p.*355L GNAO1_ENST00000262493.6_Intron NM_138736.2 NP_620073.2 P09471 GNAO_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O 0 dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1) 17 all_neural(199;0.159) GGACTCTACTGAGCCCAGCCG 0.627000 15 50 0.000422831 0.00045512 0.028581 1 0 SEC22B 9554 broad.mit.edu 37 1 145112502 145112502 + RNA SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:145112502G>T ENST00000453618.1 + 0 803 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding GTGTTACAACGAGGAGAAGCA 0.413000 8 105 1.58986e-06 1.80306e-06 0.008291 1 0 ORC2 4999 broad.mit.edu 37 2 201785816 201785816 + Missense_Mutation SNP C C G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr2:201785816C>G ENST00000234296.2 - 14 1443 c.1194G>C c.(1192-1194)caG>caC p.Q398H NM_006190.4 NP_006181.1 Q13416 ORC2_HUMAN origin recognition complex, subunit 2 398 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 CTCTCAACATCTGGCTATCCA 0.358000 7 44 0 0 0.006214 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28212871 28212871 + Missense_Mutation SNP C C G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr21:28212871C>G ENST00000284984.2 - 5 1843 c.1389G>C c.(1387-1389)ttG>ttC p.L463F NM_006988.3 NP_008919.3 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 1 463 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 42 Breast(209;0.000962) Lung(58;0.215) GCTTGTCCATCAAACATTCCC 0.478000 11 40 0 0 0.010729 0 0 MT1JP 4498 broad.mit.edu 37 16 56670900 56670900 + RNA SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr16:56670900C>T ENST00000564564.1 + 0 879 ACAACCTGCACAACCTGGATT 0.408000 5 67 0 0 0.014758 0 0 SYT7 9066 broad.mit.edu 37 11 61291970 61291970 + Silent SNP G G C rs146401168 TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr11:61291970G>C ENST00000263846.4 - 6 984 c.657C>G c.(655-657)ctC>ctG p.L219L SYT7_ENST00000542836.1_Silent_p.L263L|SYT7_ENST00000542670.1_Silent_p.L427L|SYT7_ENST00000540677.1_Silent_p.L294L|SYT7_ENST00000539008.1_Silent_p.L502L|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000535826.1_Silent_p.L338L NM_004200.3 NP_004191.2 O43581 SYT7_HUMAN synaptotagmin VII 219 C2 1. cell junction|integral to membrane|synaptic vesicle membrane transporter activity kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CTTGGAGGTAGAGGATCCTCT 0.592000 10 54 0 0 0.008291 0 0 IQCH 64799 broad.mit.edu 37 15 67709303 67709303 + Missense_Mutation SNP C C G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr15:67709303C>G ENST00000335894.4 + 15 2198 c.2132C>G c.(2131-2133)gCg>gGg p.A711G IQCH_ENST00000358767.3_Missense_Mutation_p.A447G|IQCH_ENST00000546225.1_Missense_Mutation_p.A368G|IQCH_ENST00000360277.4_Missense_Mutation_p.A372G|IQCH-AS1_ENST00000559298.1_lincRNA NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 711 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) GAGGAGCTGGCGGGCATTTTA 0.443000 3 23 0 0 0.004672 0 0 AHNAK 79026 broad.mit.edu 37 11 62301375 62301375 + Missense_Mutation SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr11:62301375C>T ENST00000378024.4 - 5 788 c.514G>A c.(514-516)Gac>Aac p.D172N AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 172 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ATGTCTATGTCCTTGGCTCCT 0.532000 22 63 0 0 0.021523 0 0 MYO9A 4649 broad.mit.edu 37 15 72144597 72144597 + Silent SNP A A G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr15:72144597A>G ENST00000356056.5 - 36 6823 c.6351T>C c.(6349-6351)gcT>gcC p.A2117A MYO9A_ENST00000444904.1_Silent_p.A2098A|MYO9A_ENST00000424560.1_Silent_p.A2188A|MYO9A_ENST00000564571.1_Silent_p.A2117A NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 2117 Rho-GAP.|Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TTACACTCTCAGCATCTATTT 0.353000 4 29 0 0 0.009096 0 0 LRRCC1 85444 broad.mit.edu 37 8 86048051 86048051 + Missense_Mutation SNP A A C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr8:86048051A>C ENST00000414626.2 + 13 3011 c.2122A>C c.(2122-2124)Att>Ctt p.I708L LRRCC1_ENST00000360375.3_Missense_Mutation_p.I728L Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 728 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 TGAAATTTTAATTGAAGATGA 0.289000 7 108 0 0 0.029380 0 0 CABLES1 91768 broad.mit.edu 37 18 20716393 20716393 + Missense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr18:20716393G>A ENST00000256925.7 + 1 667 c.667G>A c.(667-669)Gcc>Acc p.A223T CABLES1_ENST00000400473.2_Intron NM_001100619.2 NP_001094089.1 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 223 Interacts with CDK3 (By similarity). blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1) 11 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) GCCGGCGGCCGCCTTTTTGGG 0.692000 12 10 0 0 0.010729 0 0 KIF9 64147 broad.mit.edu 37 3 47286388 47286388 + Silent SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr3:47286388G>A ENST00000335044.2 - 15 1764 c.1407C>T c.(1405-1407)caC>caT p.H469H KIF9_ENST00000444589.2_Silent_p.H469H|KIF9_ENST00000265529.3_Silent_p.H469H|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000452770.2_Silent_p.H469H|KIF9_ENST00000352910.4_Silent_p.H376H|KIF9_ENST00000487440.1_5'UTR NM_001134878.1|NM_182902.3 NP_001128350.1|NP_878905.2 Q9HAQ2 KIF9_HUMAN kinesin family member 9 469 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) CACCCACTAGGTGGCCATCAA 0.517000 11 44 0 0 0.010729 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162845 33162845 + RNA SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr5:33162845G>T ENST00000510327.1 - 0 346 CCGAGCAGATGGCTATGTGCT 0.483000 14 12 2.62699e-14 3.39558e-14 0.024245 1 0 CFHR4 10877 broad.mit.edu 37 1 196857314 196857314 + Missense_Mutation SNP T T C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:196857314T>C ENST00000367416.2 + 1 171 c.34T>C c.(34-36)Tgg>Cgg p.W12R CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.W12R|CFHR4_ENST00000251424.4_Missense_Mutation_p.W12R NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 TCTGACCTTGTGGGTTTCCTG 0.348000 13 51 0 0 0.020292 0 0 GPR50 9248 broad.mit.edu 37 X 150349409 150349409 + Missense_Mutation SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chrX:150349409C>T ENST00000218316.3 + 2 1423 c.1354C>T c.(1354-1356)Cat>Tat p.H452Y NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 452 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) TGACTCTGTCCATTTCAAGGG 0.552000 280 372 0 0 0.014410 0 0 ANO1 55107 broad.mit.edu 37 11 69950160 69950160 + Missense_Mutation SNP A A T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr11:69950160A>T ENST00000355303.5 + 4 901 c.596A>T c.(595-597)cAg>cTg p.Q199L ANO1_ENST00000398543.2_Missense_Mutation_p.Q83L|ANO1_ENST00000538023.1_Missense_Mutation_p.Q199L|ANO1_ENST00000316296.5_Missense_Mutation_p.Q171L|ANO1_ENST00000530676.1_Missense_Mutation_p.Q83L NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 199 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 TCTGTGCTCCAGAAAATCACA 0.532000 3 13 0 0 0.004672 0 0 UBFD1 56061 broad.mit.edu 37 16 23581814 23581814 + Missense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr16:23581814G>T ENST00000395878.3 + 7 1214 c.833G>T c.(832-834)gGc>gTc p.G278V UBFD1_ENST00000567212.1_Missense_Mutation_p.G269V|UBFD1_ENST00000219638.4_Missense_Mutation_p.G502V NM_019116.2 NP_061989.2 O14562 UBFD1_HUMAN ubiquitin family domain containing 1 278 endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 GBM - Glioblastoma multiforme(48;0.0331) TTTCAGTTGGGCCCCACGGAA 0.507000 36 72 9.73076e-26 1.35226e-25 0.027894 1 0 RNF213 57674 broad.mit.edu 37 17 78286894 78286894 + Nonsense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr17:78286894G>A ENST00000582970.1 + 15 2881 c.2738G>A c.(2737-2739)tGg>tAg p.W913* RNF213_ENST00000456466.1_Nonsense_Mutation_p.W913*|RNF213_ENST00000319921.4_Nonsense_Mutation_p.W913*|RNF213_ENST00000508628.2_Nonsense_Mutation_p.W962* NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 913 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) ACGAAAAGGTGGCTCCGAGAA 0.468000 33 107 0 0 0.012213 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573212 140573212 + Missense_Mutation SNP A A T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr5:140573212A>T ENST00000239446.4 + 1 1271 c.1087A>T c.(1087-1089)Acg>Tcg p.T363S NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 363 Cadherin 4. 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) TTCTCCTGAGACGCCGCTGGC 0.413000 26 58 0 0 0.021523 0 0 GPR50 9248 broad.mit.edu 37 X 150349408 150349408 + Silent SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chrX:150349408C>A ENST00000218316.3 + 2 1422 c.1353C>A c.(1351-1353)gtC>gtA p.V451V NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 451 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CTGACTCTGTCCATTTCAAGG 0.547000 282 369 4.60779e-138 6.8538e-138 0.014410 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144930733 144930733 + Missense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:144930733G>A ENST00000529945.1 - 1 1415 c.976C>T c.(976-978)Cct>Tct p.P326S PDE4DIP_ENST00000313431.9_Missense_Mutation_p.P326S|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTCATGCTAGGGCCAGGCTTG 0.502000 T PDGFRB MPD 25 133 0 0 0.018920 0 0 HAX1 10456 broad.mit.edu 37 1 154247719 154247719 + Missense_Mutation SNP A A G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:154247719A>G ENST00000328703.7 + 5 859 c.646A>G c.(646-648)Atc>Gtc p.I216V HAX1_ENST00000457918.2_Missense_Mutation_p.I168V|HAX1_ENST00000532105.1_Missense_Mutation_p.I88V|HAX1_ENST00000483970.2_Missense_Mutation_p.I224V NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 216 Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Involved in PLN binding.|Required for localization in sarcoplasmic reticulum (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGTGACCAAGATCACTAAACC 0.488000 Kostmann syndrome 25 60 0 0 0.016522 0 0 FGF17 8822 broad.mit.edu 37 8 21905620 21905620 + Missense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr8:21905620G>A ENST00000359441.3 + 5 1014 c.511G>A c.(511-513)Gag>Aag p.E171K FGF17_ENST00000521709.1_3'UTR|FGF17_ENST00000518533.1_Missense_Mutation_p.E160K NM_003867.2 NP_003858.1 O60258 FGF17_HUMAN fibroblast growth factor 17 171 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development extracellular space growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 8 Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618) GAACCAGCGCGAGGCCCACTT 0.682000 7 14 0 0 0.003080 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 52 0 0 0.029380 0 0 RPN1 6184 broad.mit.edu 37 3 128356933 128356933 + Silent SNP T T G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr3:128356933T>G ENST00000296255.3 - 3 390 c.342A>C c.(340-342)acA>acC p.T114T RPN1_ENST00000497289.1_5'UTR NM_002950.3 NP_002941.1 P04843 RPN1_HUMAN ribophorin I 114 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2) 13 GBM - Glioblastoma multiforme(114;0.189) GGAGCTTGACTGTGAAGAATC 0.443000 T EVI1 AML 6 29 0 0 0.021553 0 0 HRH2 3274 broad.mit.edu 37 5 175110355 175110355 + Missense_Mutation SNP G G C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr5:175110355G>C ENST00000231683.2 + 1 1892 c.119G>C c.(118-120)tGt>tCt p.C40S HRH2_ENST00000377291.2_Missense_Mutation_p.C40S NM_022304.2 NP_071640.1 P25021 HRH2_HUMAN histamine receptor H2 40 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) GTGGTCGTCTGTCTGGCCGTG 0.592000 35 155 0 0 0.017118 0 0 TRMT6 51605 broad.mit.edu 37 20 5921749 5921749 + Nonsense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr20:5921749C>A ENST00000203001.2 - 10 1382 c.1252G>T c.(1252-1254)Gga>Tga p.G418* TRMT6_ENST00000453074.2_Nonsense_Mutation_p.G248*|TRMT6_ENST00000473131.1_5'UTR NM_015939.3 NP_057023.2 Q9UJA5 TRM6_HUMAN tRNA methyltransferase 6 homolog (S. cerevisiae) 418 regulation of translational initiation|tRNA processing nucleus protein binding|translation initiation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 15 ATGACCCCTCCCCTCTCCCGC 0.483000 79 148 1.42074e-37 2.07162e-37 0.014410 1 0 CD177 57126 broad.mit.edu 37 19 43858435 43858435 + RNA SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr19:43858435G>T ENST00000378009.4 + 0 312 CD177_ENST00000607517.1_RNA|CD177_ENST00000378012.2_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) CTGAGCACCGGATGGGCCCCG 0.652000 12 19 5.16669e-11 6.39891e-11 0.010729 1 0 RAG1 5896 broad.mit.edu 37 11 36595915 36595915 + Missense_Mutation SNP T T A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr11:36595915T>A ENST00000299440.5 + 2 1173 c.1061T>A c.(1060-1062)cTg>cAg p.L354Q NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 354 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) TTGAATTCCCTGATGGTGAAA 0.443000 Familial Hemophagocytic Lymphohistiocytosis 11 44 0 0 0.010729 0 0 TMEM57 55219 broad.mit.edu 37 1 25824898 25824898 + Missense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:25824898G>A ENST00000374343.4 + 11 2115 c.1936G>A c.(1936-1938)Gag>Aag p.E646K TMEM57_ENST00000399763.3_Missense_Mutation_p.E288K|TMEM57_ENST00000399766.3_Missense_Mutation_p.E419K NM_018202.4 NP_060672.2 Q8N5G2 MACOI_HUMAN transmembrane protein 57 646 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) CAAATTTGTGGAGACCAGCCC 0.542000 23 110 0 0 0.021523 0 0 FAM171B 165215 broad.mit.edu 37 2 187605026 187605026 + Missense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr2:187605026G>A ENST00000304698.5 + 2 513 c.310G>A c.(310-312)Gaa>Aaa p.E104K NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 104 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 AGCAGTTGTAGAAGTGTTTGT 0.383000 19 27 0 0 0.006122 0 0 PCLO 27445 broad.mit.edu 37 7 82389981 82389981 + Silent SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr7:82389981G>A ENST00000333891.8 - 24 15599 c.15262C>T c.(15262-15264)Cta>Tta p.L5088L NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 5011 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GCAGGACTTAGACTGAATCGA 0.323000 19 40 0 0 0.012319 0 0 RD3 343035 broad.mit.edu 37 1 211654714 211654714 + Missense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:211654714C>A ENST00000367002.4 - 2 1207 c.44G>T c.(43-45)cGg>cTg p.R15L RD3_ENST00000484910.1_Intron NM_001164688.1|NM_183059.2 NP_001158160.1|NP_898882.1 Q7Z3Z2 RD3_HUMAN retinal degeneration 3 15 response to stimulus|visual perception central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689) GGTGGACAGCCGGGATGGGGC 0.622000 24 66 2.79863e-10 3.42312e-10 0.024334 1 0 SLC5A4 6527 broad.mit.edu 37 22 32621724 32621724 + Missense_Mutation SNP G G C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr22:32621724G>C ENST00000266086.4 - 12 1378 c.1367C>G c.(1366-1368)aCa>aGa p.T456R RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 456 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 AATTGATTCTGTGTAATGGAT 0.398000 8 22 0 0 0.006214 0 0 CYLC1 1538 broad.mit.edu 37 X 83129064 83129064 + Missense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chrX:83129064C>A ENST00000329312.4 + 4 1385 c.1348C>A c.(1348-1350)Ccg>Acg p.P450T NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 450 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 TGACTCTGAACCGAAGGGAGA 0.343000 10 24 2.17888e-05 2.41553e-05 0.006214 1 0 STK11 6794 broad.mit.edu 37 19 1220699 1220699 + Missense_Mutation SNP G G T rs137853082 TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr19:1220699G>T ENST00000326873.7 + 5 1890 c.717G>T c.(715-717)tgG>tgT p.W239C NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 239 Protein kinase. W -> C (in PJS; late onset suggests reduced penetrance). anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2)|p.W239C(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) TGGACATCTGGTCGGCTGGGG 0.701000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 15 12 6.94344e-10 8.42319e-10 0.006122 1 0 TSPAN16 26526 broad.mit.edu 37 19 11417396 11417396 + Silent SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr19:11417396C>T ENST00000316737.1 + 5 717 c.567C>T c.(565-567)gaC>gaT p.D189D TSPAN16_ENST00000592955.1_Silent_p.D164D|TSPAN16_ENST00000590327.1_Silent_p.D189D|CTC-510F12.4_ENST00000586356.1_RNA NM_012466.2 NP_036598.1 Q9UKR8 TSN16_HUMAN tetraspanin 16 189 integral to membrane breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1) 12 TGTCCTGTGACGGACGCGATG 0.478000 6 23 0 0 0.021553 0 0 GPR151 134391 broad.mit.edu 37 5 145895386 145895386 + Silent SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr5:145895386C>T ENST00000311104.2 - 1 367 c.291G>A c.(289-291)acG>acA p.T97T NM_194251.2 NP_919227.2 Q8TDV0 GP151_HUMAN G protein-coupled receptor 151 97 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2) 14 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGAGTACGCCGTAGCTCGGA 0.507000 19 91 0 0 0.010504 0 0 WHSC1 7468 broad.mit.edu 37 4 1918695 1918695 + Silent SNP A A G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr4:1918695A>G ENST00000503128.1 + 4 1065 c.858A>G c.(856-858)ggA>ggG p.G286G WHSC1_ENST00000508803.1_Silent_p.G286G|WHSC1_ENST00000420906.2_Silent_p.G286G|WHSC1_ENST00000382891.5_Silent_p.G286G|WHSC1_ENST00000382892.2_Silent_p.G286G|WHSC1_ENST00000382895.3_Silent_p.G286G|WHSC1_ENST00000398261.1_Silent_p.G286G|WHSC1_ENST00000514045.1_Silent_p.G286G O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 286 PWWP 1. 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) CTTTTGAAGGAGAAGGACAGT 0.443000 T IGH@ MM 17 35 0 0 0.033300 0 0 RELN 5649 broad.mit.edu 37 7 103131239 103131239 + Missense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr7:103131239G>T ENST00000428762.1 - 59 9640 c.9481C>A c.(9481-9483)Cct>Act p.P3161T RELN_ENST00000424685.2_Missense_Mutation_p.P3161T|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.P3161T NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 3161 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GAAGAGGAAGGAAGGCACTGG 0.448000 13 31 4.3838e-07 5.04905e-07 0.016723 1 0 PPP6R3 55291 broad.mit.edu 37 11 68305257 68305257 + Missense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr11:68305257G>T ENST00000393799.2 + 3 392 c.125G>T c.(124-126)cGc>cTc p.R42L PPP6R3_ENST00000524904.1_Missense_Mutation_p.R42L|PPP6R3_ENST00000265636.5_Missense_Mutation_p.R42L|PPP6R3_ENST00000393800.2_Missense_Mutation_p.R42L|PPP6R3_ENST00000527403.2_Missense_Mutation_p.R42L|PPP6R3_ENST00000265637.4_Missense_Mutation_p.R42L|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000529710.1_Missense_Mutation_p.R42L|PPP6R3_ENST00000524845.1_Missense_Mutation_p.R42L|PPP6R3_ENST00000393801.3_Missense_Mutation_p.R42L Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 42 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 GCTCAGAACCGCAAACTTATA 0.368000 15 27 3.27435e-08 3.84606e-08 0.020292 1 0 SSPO 23145 broad.mit.edu 37 7 149494420 149494420 + RNA SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr7:149494420C>T ENST00000378016.2 + 0 6891 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGCTGCTGCACTGGCCCAGGG 0.657000 18 36 0 0 0.006122 0 0 SNX31 169166 broad.mit.edu 37 8 101629862 101629862 + Nonsense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr8:101629862C>A ENST00000311812.2 - 5 568 c.418G>T c.(418-420)Gaa>Taa p.E140* SNX31_ENST00000428383.2_Nonsense_Mutation_p.E41* NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 140 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) AGGACTCTTTCAGCAGTGTCT 0.403000 243 57 2.05815e-117 3.04607e-117 0.014410 1 0 PRR14L 253143 broad.mit.edu 37 22 32072908 32072908 + Silent SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr22:32072908C>T ENST00000397493.2 - 9 6468 c.6276G>A c.(6274-6276)ctG>ctA p.L2092L Q5THK1 PR14L_HUMAN proline rich 14-like 0 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2) 14 GGCGTGAGGCCAGCAGTGGGT 0.622000 3 9 0 0 0.009096 0 0 PDE6B 5158 broad.mit.edu 37 4 628571 628571 + Missense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr4:628571G>T ENST00000255622.6 + 2 617 c.574G>T c.(574-576)Gca>Tca p.A192S PDE6B_ENST00000496514.1_Missense_Mutation_p.A192S NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 192 GAF 1. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 GGTGATCATGGCAGTGAACAA 0.567000 30 50 3.90053e-15 5.13136e-15 0.012213 1 0 PDE1C 5137 broad.mit.edu 37 7 31862701 31862701 + Missense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr7:31862701G>A ENST00000396184.3 - 15 1772 c.1568C>T c.(1567-1569)gCc>gTc p.A523V PDE1C_ENST00000321453.7_Missense_Mutation_p.A523V|PDE1C_ENST00000396191.1_Missense_Mutation_p.A523V|PDE1C_ENST00000396182.2_Missense_Mutation_p.A523V|PDE1C_ENST00000396193.1_Missense_Mutation_p.A583V NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 523 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) GGGTACCTTGGCCCTCCATCT 0.458000 28 90 0 0 0.034045 0 0 OGT 8473 broad.mit.edu 37 X 70783197 70783197 + Missense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chrX:70783197G>A ENST00000373719.3 + 18 2501 c.2284G>A c.(2284-2286)Gga>Aga p.G762R OGT_ENST00000373701.3_Missense_Mutation_p.G752R NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 762 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) TCCTGATGGAGGAGACAATGC 0.363000 26 84 0 0 0.009535 0 0 NARG2 79664 broad.mit.edu 37 15 60768320 60768320 + Missense_Mutation SNP T T G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr15:60768320T>G ENST00000261520.4 - 3 322 c.88A>C c.(88-90)Aat>Cat p.N30H NARG2_ENST00000558654.1_5'UTR|NARG2_ENST00000561114.1_Missense_Mutation_p.N30H|NARG2_ENST00000439632.1_5'UTR NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 30 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 TCTTTATAATTTTCTCGAGAG 0.313000 6 42 0 0 0.021553 0 0 EMR3 84658 broad.mit.edu 37 19 14755018 14755018 + Missense_Mutation SNP T T C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr19:14755018T>C ENST00000253673.5 - 9 1052 c.952A>G c.(952-954)Agg>Ggg p.R318G EMR3_ENST00000443157.2_Missense_Mutation_p.R192G|EMR3_ENST00000344373.4_Missense_Mutation_p.R266G|EMR3_ENST00000599900.1_Missense_Mutation_p.R103G NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 318 GPS. neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 CAGCCATCCCTGGACCACTGG 0.517000 19 29 0 0 0.010504 0 0 SLC6A2 6530 broad.mit.edu 37 16 55705996 55705996 + Missense_Mutation SNP T T A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr16:55705996T>A ENST00000379906.2 + 3 808 c.553T>A c.(553-555)Tgt>Agt p.C185S SLC6A2_ENST00000568943.1_Missense_Mutation_p.C185S|SLC6A2_ENST00000567238.1_Missense_Mutation_p.C80S|SLC6A2_ENST00000566163.1_Missense_Mutation_p.C185S|SLC6A2_ENST00000414754.3_Missense_Mutation_p.C185S|SLC6A2_ENST00000561820.1_Missense_Mutation_p.C185S|SLC6A2_ENST00000219833.8_Missense_Mutation_p.C185S NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 185 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) CAGCCCCAACTGTACCGACCC 0.557000 44 38 0 0 0.014410 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803031 185803031 + Missense_Mutation SNP C C G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr2:185803031C>G ENST00000302277.6 + 4 3502 c.2908C>G c.(2908-2910)Ctt>Gtt p.L970V NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 970 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TAAATCCTATCTTTGCCATTA 0.388000 23 152 0 0 0.024334 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 5 78 0 0 0.014758 0 0 KRTAP19-2 337969 broad.mit.edu 37 21 31859623 31859623 + Silent SNP C C T rs149309849 TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr21:31859623C>T ENST00000334055.3 - 1 132 c.45G>A c.(43-45)ctG>ctA p.L15L NM_181608.1 NP_853639.1 Q3LHN2 KR192_HUMAN keratin associated protein 19-2 15 intermediate filament endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 AGCCATAGCCCAGTCTGCAGA 0.552000 63 95 0 0 0.014410 0 0 OR4E2 26686 broad.mit.edu 37 14 22133530 22133530 + Silent SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr14:22133530G>T ENST00000408935.1 + 1 234 c.234G>T c.(232-234)gtG>gtT p.V78V NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) CTGTCACTGTGCCTAAGATGT 0.443000 98 175 6.00224e-42 8.83912e-42 0.014410 1 0 COL11A2 1302 broad.mit.edu 37 6 33143435 33143435 + Silent SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr6:33143435G>A ENST00000341947.2 - 30 2519 c.2292C>T c.(2290-2292)tcC>tcT p.S764S COL11A2_ENST00000374708.4_Silent_p.S678S|COL11A2_ENST00000361917.1_Silent_p.S657S|COL11A2_ENST00000395197.1_Silent_p.S704S|COL11A2_ENST00000374714.1_Silent_p.S738S|COL11A2_ENST00000374712.1_Silent_p.S683S|COL11A2_ENST00000374713.1_Silent_p.S717S|COL11A2_ENST00000357486.1_Silent_p.S743S|COL11A2_ENST00000477772.1_Intron NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 764 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCTCTCCCCTGGAACCAGGGA 0.637000 18 50 0 0 0.006122 0 0 MED14 9282 broad.mit.edu 37 X 40568708 40568708 + Missense_Mutation SNP C C G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chrX:40568708C>G ENST00000324817.1 - 10 1295 c.1177G>C c.(1177-1179)Gac>Cac p.D393H NM_004229.3 NP_004220.2 O60244 MED14_HUMAN mediator complex subunit 14 393 Interaction with STAT2. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GATAAGTGGTCGATCTGCATA 0.353000 12 22 0 0 0.016723 0 0 OGFR 11054 broad.mit.edu 37 20 61438897 61438897 + Missense_Mutation SNP G G C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr20:61438897G>C ENST00000290291.6 + 2 205 c.180G>C c.(178-180)atG>atC p.M60I OGFR_ENST00000370468.3_Missense_Mutation_p.M60I|OGFR_ENST00000370461.1_5'UTR NM_007346.2 NP_031372.2 Q9NZT2 OGFR_HUMAN opioid growth factor receptor 60 DAGDEDEESEEPRAARPSSFQSRMTGSRNWRATRDMCRYRH NYP -> GARRALGVLGQPGGLQMRLPERHGGPQGSLCLMD PCCPLSLALQ (in Ref. 5). regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 17 Breast(26;3.65e-08) AGTCCAGAATGACAGGGTCCA 0.617000 23 50 0 0 0.014323 0 0 ATP7A 538 broad.mit.edu 37 X 77267089 77267089 + Missense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chrX:77267089C>A ENST00000341514.6 + 9 2245 c.2090C>A c.(2089-2091)tCt>tAt p.S697Y ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.S697Y NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 697 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 AACCTTCATTCTTCTATGTTC 0.388000 129 194 3.33775e-37 4.843e-37 0.014410 1 0 EPHA5 2044 broad.mit.edu 37 4 66467497 66467497 + Missense_Mutation SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr4:66467497C>T ENST00000273854.3 - 3 1372 c.772G>A c.(772-774)Gtg>Atg p.V258M EPHA5_ENST00000511294.1_Missense_Mutation_p.V258M|EPHA5_ENST00000354839.4_Missense_Mutation_p.V258M|EPHA5_ENST00000432638.2_Missense_Mutation_p.V258M NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 258 Cys-rich. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 GAGCCTGACACTTCGAGCAAT 0.517000 TSP Lung(17;0.13) 4 29 0 0 0.009096 0 0 HHIPL1 84439 broad.mit.edu 37 14 100119151 100119151 + Silent SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr14:100119151C>T ENST00000330710.5 + 2 944 c.846C>T c.(844-846)atC>atT p.I282I HHIPL1_ENST00000357223.2_Silent_p.I282I NM_001127258.1 NP_001120730.1 Q96JK4 HIPL1_HUMAN HHIP-like 1 282 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) GGATCCGCATCAGCGAGTTCA 0.627000 5 35 0 0 0.014758 0 0 TMEM61 199964 broad.mit.edu 37 1 55457596 55457596 + Silent SNP T T A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:55457596T>A ENST00000371268.3 + 3 727 c.453T>A c.(451-453)ccT>ccA p.P151P RP11-12C17.2_ENST00000436960.1_RNA NM_182532.1 NP_872338.1 Q8N0U2 TMM61_HUMAN transmembrane protein 61 151 integral to membrane endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 4 CTGCATACCCTACGGAGGAAG 0.627000 32 51 0 0 0.009535 0 0 C16orf80 29105 broad.mit.edu 37 16 58148723 58148723 + Silent SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr16:58148723G>A ENST00000262498.3 - 5 901 c.567C>T c.(565-567)aaC>aaT p.N189N NM_013242.2 NP_037374.1 Q9Y6A4 CP080_HUMAN chromosome 16 open reading frame 80 189 multicellular organismal development kidney(1)|large_intestine(1)|lung(1)|prostate(1) 4 CCTTTGCCTTGTTCTGAACTG 0.517000 11 63 0 0 0.010729 0 0 PHACTR2 9749 broad.mit.edu 37 6 144086516 144086516 + Silent SNP A A G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr6:144086516A>G ENST00000427704.2 + 6 910 c.780A>G c.(778-780)acA>acG p.T260T PHACTR2_ENST00000367584.4_Silent_p.T248T|PHACTR2_ENST00000440869.2_Silent_p.T271T|PHACTR2_ENST00000367582.3_Silent_p.T191T|PHACTR2_ENST00000305766.6_Silent_p.T180T NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 260 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) AAGCAGGGACAGTGGGGACCA 0.488000 23 59 0 0 0.014323 0 0 KCNH1 3756 broad.mit.edu 37 1 211264027 211264027 + Missense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:211264027G>A ENST00000367007.4 - 4 485 c.316C>T c.(316-318)Cct>Tct p.P106S KCNH1_ENST00000271751.4_Missense_Mutation_p.P106S NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 106 PAC. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) AACCACACAGGTGTCCCTGAA 0.378000 7 57 0 0 0.004482 0 0 RYR2 6262 broad.mit.edu 37 1 237886564 237886564 + Splice_Site SNP T T A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:237886564T>A ENST00000366574.2 + 74 11006 c.e74+2 RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTTGAACAGGTCAGGCTTTGT 0.343000 15 45 0 0 0.024245 0 0 HMHA1 23526 broad.mit.edu 37 19 1080092 1080092 + Missense_Mutation SNP G G C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr19:1080092G>C ENST00000313093.2 + 13 1909 c.1678G>C c.(1678-1680)Gag>Cag p.E560Q HMHA1_ENST00000590214.1_Missense_Mutation_p.E587Q|HMHA1_ENST00000590577.1_Missense_Mutation_p.E195Q|HMHA1_ENST00000539243.2_Missense_Mutation_p.E576Q|HMHA1_ENST00000536472.1_Missense_Mutation_p.E400Q|HMHA1_ENST00000543365.1_Missense_Mutation_p.E443Q|HMHA1_ENST00000586866.1_Missense_Mutation_p.E564Q NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 560 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTACGACTTTGAGCCCCACGT 0.687000 20 16 0 0 0.010504 0 0 RP11-287D1.3 0 broad.mit.edu 37 2 74589189 74589189 + Missense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr2:74589189G>A ENST00000451608.2 - 4 427 c.428C>T c.(427-429)gCc>gTc p.A143V DCTN1_ENST00000361874.3_Missense_Mutation_p.A1230V|DCTN1_ENST00000409240.1_Missense_Mutation_p.A1188V|DCTN1_ENST00000394003.3_Missense_Mutation_p.A1223V|DCTN1_ENST00000409438.1_Missense_Mutation_p.A1091V|DCTN1_ENST00000409868.1_Missense_Mutation_p.A1208V|DCTN1_ENST00000407639.2_Missense_Mutation_p.A1096V|DCTN1_ENST00000409567.3_Missense_Mutation_p.A1205V CCTGAGGAAGGCTGATGAAGG 0.602000 21 49 0 0 0.014323 0 0 PLCZ1 89869 broad.mit.edu 37 12 18854567 18854567 + Silent SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr12:18854567C>T ENST00000538330.1 - 5 612 c.231G>A c.(229-231)gaG>gaA p.E77E PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000542762.1_Intron|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000447925.2_Intron|PLCZ1_ENST00000266505.7_Intron|PLCZ1_ENST00000541695.1_Intron Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 317 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) cctcctcctcctcctcctcct 0.453000 4 11 0 0 0.009096 0 0 ZCCHC2 54877 broad.mit.edu 37 18 60217600 60217600 + Missense_Mutation SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr18:60217600C>T ENST00000269499.5 + 5 1638 c.1220C>T c.(1219-1221)tCa>tTa p.S407L ZCCHC2_ENST00000586834.1_Missense_Mutation_p.S86L NM_017742.4 NP_060212.4 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 407 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 GAACTGTCTTCAGAGACTTTT 0.398000 15 10 0 0 0.024245 0 0 SLC7A13 157724 broad.mit.edu 37 8 87229981 87229981 + Missense_Mutation SNP T T A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr8:87229981T>A ENST00000297524.3 - 3 1000 c.897A>T c.(895-897)ttA>ttT p.L299F SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Missense_Mutation_p.L290F NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 299 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 GGTTGCTAAATAATGAGGTAG 0.373000 5 272 0 0 0.014758 0 0 FOXP1 27086 broad.mit.edu 37 3 71161757 71161757 + Missense_Mutation SNP T T C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr3:71161757T>C ENST00000318789.4 - 7 737 c.212A>G c.(211-213)cAg>cGg p.Q71R FOXP1_ENST00000498215.1_Missense_Mutation_p.Q71R|FOXP1_ENST00000468577.1_Missense_Mutation_p.Q71R|FOXP1_ENST00000493089.1_Missense_Mutation_p.Q71R|FOXP1_ENST00000475937.1_Missense_Mutation_p.Q71R|FOXP1_ENST00000491238.1_Missense_Mutation_p.Q73R|FOXP1_ENST00000484350.1_Missense_Mutation_p.Q71R NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 71 Gln-rich. cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) CTGTTGCTGCTGAAGAAGGAG 0.408000 T PAX5 ALL 15 96 0 0 0.006122 0 0 MME 4311 broad.mit.edu 37 3 154884801 154884801 + Missense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr3:154884801G>T ENST00000460393.1 + 18 1891 c.1771G>T c.(1771-1773)Gat>Tat p.D591Y MME_ENST00000492661.1_Missense_Mutation_p.D591Y|MME_ENST00000493237.1_Missense_Mutation_p.D591Y|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000462745.1_Missense_Mutation_p.D591Y|MME_ENST00000360490.2_Missense_Mutation_p.D591Y NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 591 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) CCATGGCTTCGATGACAATGG 0.423000 31 52 7.61165e-28 1.06276e-27 0.017118 1 0 PRDM11 56981 broad.mit.edu 37 11 45204512 45204512 + Silent SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr11:45204512G>A ENST00000263765.4 + 5 675 c.426G>A c.(424-426)cgG>cgA p.R142R PRDM11_ENST00000424263.2_Silent_p.R108R|PRDM11_ENST00000530656.1_Silent_p.R142R|PRDM11_ENST00000528980.1_3'UTR Q9NQV5 PRD11_HUMAN PR domain containing 11 142 endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 TCCCAGACCGGGCGGCGCTCA 0.602000 4 61 0 0 0.014758 0 0 AARS 16 broad.mit.edu 37 16 70291981 70291981 + Missense_Mutation SNP G G C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr16:70291981G>C ENST00000261772.8 - 15 2275 c.2132C>G c.(2131-2133)tCt>tGt p.S711C AARS_ENST00000564359.1_Intron NM_001605.2 NP_001596.2 P49588 SYAC_HUMAN alanyl-tRNA synthetase 711 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) AGCAGGCCCAGAGGGGTCATC 0.587000 4 23 0 0 0.009096 0 0 LMTK2 22853 broad.mit.edu 37 7 97784092 97784092 + Missense_Mutation SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr7:97784092C>T ENST00000297293.5 + 5 766 c.473C>T c.(472-474)aCg>aTg p.T158M NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 158 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) GAGATTTACACGGGCACTAGC 0.388000 26 91 0 0 0.012213 0 0 TRPV6 55503 broad.mit.edu 37 7 142573427 142573427 + Missense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr7:142573427G>T ENST00000359396.3 - 8 1161 c.916C>A c.(916-918)Cag>Aag p.Q306K NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 306 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) TCCAGGATCTGGCGAGCCTGC 0.602000 37 56 3.76114e-14 4.84042e-14 0.019004 1 0 SPRR4 163778 broad.mit.edu 37 1 152944388 152944388 + Missense_Mutation SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:152944388C>T ENST00000328051.2 + 2 71 c.22C>T c.(22-24)Cgg>Tgg p.R8W NM_173080.1 NP_775103.1 Q96PI1 SPRR4_HUMAN small proline-rich protein 4 8 Gln-rich. keratinization|peptide cross-linking cell cortex lung(1)|prostate(1) 2 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) gcagcagcagcggcagcagca 0.552000 37 102 0 0 0.017118 0 0 SULT1B1 27284 broad.mit.edu 37 4 70599959 70599959 + Silent SNP G G C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr4:70599959G>C ENST00000310613.2 - 5 696 c.399C>G c.(397-399)gcC>gcG p.A133A NM_014465.3 NP_055280.2 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 1 133 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 AAACATCCTTGGCATTACGAG 0.363000 7 17 0 0 0.029380 0 0 SGOL1 151648 broad.mit.edu 37 3 20216419 20216419 + Missense_Mutation SNP T T G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr3:20216419T>G ENST00000412997.1 - 6 955 c.604A>C c.(604-606)Ata>Cta p.I202L SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000421451.1_Missense_Mutation_p.I202L|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000412868.1_Missense_Mutation_p.I202L|SGOL1_ENST00000425061.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000263753.4_Missense_Mutation_p.I202L NM_001199251.1 NP_001186180.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) 202 attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 AACTGACATATACTGTTACAA 0.358000 14 63 0 0 0.016723 0 0 EDIL3 10085 broad.mit.edu 37 5 83476214 83476214 + Missense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr5:83476214G>T ENST00000296591.5 - 4 770 c.352C>A c.(352-354)Cac>Aac p.H118N EDIL3_ENST00000380138.3_Missense_Mutation_p.H108N NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 118 cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) AACTTACTGTGCTGACAGTGA 0.348000 8 8 1.12685e-05 1.26344e-05 0.004482 1 0 RBM12 10137 broad.mit.edu 37 20 34242137 34242137 + Missense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr20:34242137G>A ENST00000374114.3 - 3 1371 c.1108C>T c.(1108-1110)Cgc>Tgc p.R370C RBM12_ENST00000359646.1_Missense_Mutation_p.R370C|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.R370C NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 370 RRM 1. nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) TCCACATAGCGTTGAATCATC 0.428000 OREG0004044 type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 34 115 0 0 0.013726 0 0 ANKRD36B 57730 broad.mit.edu 37 2 98171707 98171707 + RNA SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr2:98171707C>A ENST00000443455.1 - 0 1190 Q8N2N9 AN36B_HUMAN ankyrin repeat domain 36B CTGGTTGTTTCTGAGAAGACA 0.289000 13 21 6.49762e-13 8.25449e-13 0.006122 1 0 BCL2A1 597 broad.mit.edu 37 15 80263323 80263323 + Nonsense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr15:80263323C>A ENST00000267953.3 - 1 465 c.139G>T c.(139-141)Gaa>Taa p.E47* BCL2A1_ENST00000335661.6_Nonsense_Mutation_p.E47* NM_004049.3 NP_004040.1 Q16548 B2LA1_HUMAN BCL2-related protein A1 47 anti-apoptosis|apoptosis cytoplasm protein binding endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 12 TTTTCCACTTCTTTTTGGACT 0.438000 20 67 1.56452e-12 1.96228e-12 0.007413 1 0 HERC1 8925 broad.mit.edu 37 15 64041977 64041977 + Missense_Mutation SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr15:64041977C>T ENST00000443617.2 - 9 2003 c.1916G>A c.(1915-1917)gGc>gAc p.G639D NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 639 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 AGCTCCACAGCCCCAAGCATA 0.383000 4 2 0 0 0.014758 0 0 OR9I1 219954 broad.mit.edu 37 11 57886277 57886277 + Missense_Mutation SNP T T G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr11:57886277T>G ENST00000302610.1 - 1 639 c.640A>C c.(640-642)Atc>Ctc p.I214L OR9Q1_ENST00000335397.3_Intron NM_001005211.1 NP_001005211.1 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, member 1 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1) 23 Breast(21;0.0589) GAAATCAGGATGACGGAGGCA 0.483000 11 28 0 0 0.010729 0 0 OPN1SW 611 broad.mit.edu 37 7 128415840 128415840 + Missense_Mutation SNP C C G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr7:128415840C>G ENST00000249389.2 - 1 4 c.5G>C c.(4-6)aGa>aCa p.R2T NM_001708.2 NP_001699.1 P03999 OPSB_HUMAN opsin 1 (cone pigments), short-wave-sensitive 2 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1) 19 CGACATTTTTCTCATGGATGC 0.507000 4 19 0 0 0.009096 0 0 HERC5 51191 broad.mit.edu 37 4 89410318 89410318 + Splice_Site SNP G G C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr4:89410318G>C ENST00000264350.3 + 16 2117 c.1962_splice c.e16-1 p.S655_splice HERC5_ENST00000508159.1_Splice_Site_p.S293_splice NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 655 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) TTTTCCTAGAGTAAAAAACAT 0.368000 15 29 0 0 0.020292 0 0 KIAA1683 80726 broad.mit.edu 37 19 18368705 18368705 + Missense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr19:18368705C>A ENST00000392413.3 - 4 3604 c.3389G>T c.(3388-3390)cGt>cTt p.R1130L KIAA1683_ENST00000600359.2_Missense_Mutation_p.R897L|KIAA1683_ENST00000600328.2_Missense_Mutation_p.R943L NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 1130 IQ 5. mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 GATCCTGCGACGCGCCAGGTA 0.672000 23 30 3.62473e-10 4.41531e-10 0.012319 1 0 RYR2 6262 broad.mit.edu 37 1 237947973 237947973 + Missense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:237947973G>T ENST00000366574.2 + 90 13278 c.12961G>T c.(12961-12963)Ggt>Tgt p.G4321C RYR2_ENST00000360064.6_Missense_Mutation_p.G4327C|RYR2_ENST00000542537.1_Missense_Mutation_p.G4305C NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4321 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.G4319S(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCTCGTCGAAGGTGCTAAAAA 0.522000 6 74 1.26484e-09 1.51577e-09 0.003080 1 0 CTCF 10664 broad.mit.edu 37 16 67662384 67662384 + Missense_Mutation SNP C C T rs112926498 TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr16:67662384C>T ENST00000264010.4 + 9 2074 c.1630C>T c.(1630-1632)Cgc>Tgc p.R544C CTCF_ENST00000401394.1_Missense_Mutation_p.R216C NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 544 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) GCACTTCAAGCGCTATCACGA 0.537000 49 78 0 0 0.014410 0 0 KIFAP3 22920 broad.mit.edu 37 1 169951914 169951914 + Missense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:169951914G>A ENST00000367765.1 - 14 2982 c.1481C>T c.(1480-1482)cCa>cTa p.P494L KIFAP3_ENST00000540905.1_Missense_Mutation_p.P236L|KIFAP3_ENST00000361580.2_Missense_Mutation_p.P534L|KIFAP3_ENST00000367767.1_Missense_Mutation_p.P490L|KIFAP3_ENST00000538366.1_Missense_Mutation_p.P456L NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 534 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GTCTAAGTCTGGAATGGTCAA 0.378000 24 66 0 0 0.016522 0 0 SGIP1 84251 broad.mit.edu 37 1 67155945 67155945 + Missense_Mutation SNP A A C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:67155945A>C ENST00000371037.4 + 17 1593 c.1516A>C c.(1516-1518)Act>Cct p.T506P SGIP1_ENST00000371036.3_Missense_Mutation_p.T306P|SGIP1_ENST00000371039.1_Missense_Mutation_p.T307P|SGIP1_ENST00000237247.6_Missense_Mutation_p.T537P|SGIP1_ENST00000371035.3_Missense_Mutation_p.T296P NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 506 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 GGCTGAAAGCACTTCTTCAAT 0.468000 57 87 0 0 0.014410 0 0 PMVK 10654 broad.mit.edu 37 1 154897618 154897618 + Missense_Mutation SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:154897618C>T ENST00000368467.3 - 5 871 c.566G>A c.(565-567)cGc>cAc p.R189H NM_006556.3 NP_006547.1 Q15126 PMVK_HUMAN phosphomevalonate kinase 189 cholesterol biosynthetic process|protein phosphorylation cytosol|peroxisome ATP binding|phosphomevalonate kinase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142) BRCA - Breast invasive adenocarcinoma(34;0.00034) AAGTCTGGAGCGGATAAATTC 0.572000 48 119 0 0 0.014410 0 0 SCN8A 6334 broad.mit.edu 37 12 52080931 52080931 + Missense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr12:52080931G>A ENST00000354534.5 + 5 720 c.542G>A c.(541-543)gGt>gAt p.G181D SCN8A_ENST00000550891.1_Missense_Mutation_p.G181D|SCN8A_ENST00000545061.1_Missense_Mutation_p.G181D NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 181 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) ATTGCAAGAGGTTTCTGCATA 0.393000 5 71 0 0 0.014758 0 0 PROP1 5626 broad.mit.edu 37 5 177421211 177421211 + Missense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr5:177421211G>T ENST00000308304.2 - 2 546 c.238C>A c.(238-240)Cag>Aag p.Q80K NM_006261.4 NP_006252.3 O75360 PROP1_HUMAN PROP paired-like homeobox 1 80 central nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(9)|stomach(1) 13 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGTTCCAACTGCACTGGGCTG 0.667000 27 54 2.44723e-14 3.1911e-14 0.024334 1 0 NADK 65220 broad.mit.edu 37 1 1685646 1685646 + Splice_Site SNP T T G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:1685646T>G ENST00000344463.4 - 12 1601 c.1378_splice c.e12-1 p.G460_splice NADK_ENST00000342348.5_Splice_Site_p.G283_splice|NADK_ENST00000378625.1_Splice_Site_p.G460_splice|NADK_ENST00000341991.3_Splice_Site_p.G315_splice|NADK_ENST00000341426.5_Splice_Site_p.G315_splice O95544 NADK_HUMAN NAD kinase 315 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) ACACGATCACTCCTGACAGGG 0.697000 5 40 0 0 0.014758 0 0 TTN 7273 broad.mit.edu 37 2 179480201 179480201 + Missense_Mutation SNP G G C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr2:179480201G>C ENST00000589042.1 - 259 48695 c.48471C>G c.(48469-48471)gaC>gaG p.D16157E TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7092E|TTN_ENST00000342992.6_Missense_Mutation_p.D13589E|TTN_ENST00000359218.5_Missense_Mutation_p.D7217E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D14516E|TTN_ENST00000342175.6_Missense_Mutation_p.D7284E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14516 Fibronectin type-III 17. 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) TCTCTGGTGGGTCAGGTACCG 0.458000 129 175 0 0 0.014410 0 0 PCSK5 5125 broad.mit.edu 37 9 78790192 78790192 + Missense_Mutation SNP C C G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr9:78790192C>G ENST00000376767.3 + 14 2559 c.2047C>G c.(2047-2049)Cga>Gga p.R683G PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 ggaatggaatcgaatcgaatc 0.373000 2 1 0 0 0.004672 0 0 EDEM3 80267 broad.mit.edu 37 1 184672036 184672036 + Silent SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:184672036G>A ENST00000318130.8 - 19 2564 c.2298C>T c.(2296-2298)ttC>ttT p.F766F EDEM3_ENST00000367512.3_Silent_p.F723F|EDEM3_ENST00000466392.1_5'UTR NM_025191.3 NP_079467.3 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 3 766 PA. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TGCTGAATAAGAACAGCATGG 0.468000 9 53 0 0 0.004482 0 0 ANKRD12 23253 broad.mit.edu 37 18 9257097 9257097 + Missense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr18:9257097G>T ENST00000383440.2 + 8 4020 c.3763G>T c.(3763-3765)Gca>Tca p.A1255S ANKRD12_ENST00000262126.3_Missense_Mutation_p.A1278S|ANKRD12_ENST00000400020.3_Missense_Mutation_p.A1255S NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 1278 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 ACCACCATATGCAAACAGACT 0.433000 43 72 1.32136e-16 1.75391e-16 0.033182 1 0 GABRG3 2567 broad.mit.edu 37 15 27765254 27765254 + Silent SNP A A G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr15:27765254A>G ENST00000333743.6 + 7 1103 c.849A>G c.(847-849)ccA>ccG p.P283P RP11-100M12.3_ENST00000556642.1_RNA NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 283 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) ATGCTACGCCAGCAAGAACAG 0.353000 6 9 0 0 0.006214 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73185609 73185609 + Missense_Mutation SNP A A G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr4:73185609A>G ENST00000286657.4 - 8 1210 c.1174T>C c.(1174-1176)Tct>Cct p.S392P NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 392 Peptidase M12B. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ACAAAAGCAGATGAAAAACCA 0.408000 5 27 0 0 0.021553 0 0 GRIN3A 116443 broad.mit.edu 37 9 104432614 104432614 + Missense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr9:104432614G>T ENST00000361820.3 - 3 2680 c.2080C>A c.(2080-2082)Ctg>Atg p.L694M NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 694 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CATTCATACAGAGTGAGGAAG 0.483000 50 89 9.40368e-32 1.33822e-31 0.014410 1 0 SLC8A3 6547 broad.mit.edu 37 14 70633711 70633711 + Missense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr14:70633711C>A ENST00000381269.2 - 2 2182 c.1429G>T c.(1429-1431)Gat>Tat p.D477Y SLC8A3_ENST00000357887.3_Missense_Mutation_p.D477Y|SLC8A3_ENST00000528359.1_Missense_Mutation_p.D477Y|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D477Y|SLC8A3_ENST00000534137.1_Missense_Mutation_p.D477Y NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 477 Calx-beta 1. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) AAGTGTTCATCCTCCTCAAAA 0.517000 63 167 3.13296e-38 4.59088e-38 0.014410 1 0 ZNF683 257101 broad.mit.edu 37 1 26691246 26691246 + Missense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:26691246C>A ENST00000436292.1 - 4 911 c.791G>T c.(790-792)gGc>gTc p.G264V ZNF683_ENST00000403843.1_Missense_Mutation_p.G264V|ZNF683_ENST00000374204.1_Missense_Mutation_p.G264V|ZNF683_ENST00000349618.3_Missense_Mutation_p.G264V Q8IZ20 ZN683_HUMAN zinc finger protein 683 264 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) CAGAGCTTGGCCAGAGGCTTG 0.647000 11 42 9.70103e-10 1.17204e-09 0.008291 1 0 SNRPB 6628 broad.mit.edu 37 20 2448373 2448373 + Missense_Mutation SNP T T C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr20:2448373T>C ENST00000381342.2 - 2 197 c.35A>G c.(34-36)cAt>cGt p.H12R SNRPB_ENST00000438552.2_Missense_Mutation_p.H12R|SNRPB_ENST00000339610.6_5'UTR|RP4-734P14.4_ENST00000461548.1_Silent_p.A112A NM_003091.3 NP_003082.1 P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptides B and B1 12 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 10 GTAATCAATATGCTGCAGCAT 0.517000 29 36 0 0 0.009535 0 0 MUC17 140453 broad.mit.edu 37 7 100680373 100680373 + Silent SNP T T A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr7:100680373T>A ENST00000306151.4 + 3 5740 c.5676T>A c.(5674-5676)gcT>gcA p.A1892A NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1892 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAACTCCCGCTGTCACCAGCA 0.512000 119 268 0 0 0.014410 0 0 BVES 11149 broad.mit.edu 37 6 105564592 105564592 + Missense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr6:105564592G>T ENST00000314641.5 - 6 1016 c.800C>A c.(799-801)cCc>cAc p.P267H BVES_ENST00000446408.2_Missense_Mutation_p.P267H|BVES_ENST00000336775.5_Missense_Mutation_p.P267H NM_001199563.1 NP_001186492.1 Q8NE79 POPD1_HUMAN blood vessel epicardial substance 267 epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1) 21 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) ATTTAAGGTGGGATCATTCAA 0.274000 13 30 4.3838e-07 5.04905e-07 0.016723 1 0 VPS51 738 broad.mit.edu 37 11 64875837 64875837 + Silent SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr11:64875837C>T ENST00000279281.3 + 5 986 c.894C>T c.(892-894)ccC>ccT p.P298P VPS51_ENST00000527646.1_3'UTR NM_013265.2 NP_037397.2 vacuolar protein sorting 51 homolog (S. cerevisiae) CTCCGGCTCCCGACGTGTTAG 0.701000 4 34 0 0 0.029380 0 0 GPM6A 2823 broad.mit.edu 37 4 176572989 176572989 + Missense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr4:176572989C>A ENST00000280187.7 - 5 582 c.537G>T c.(535-537)caG>caT p.Q179H GPM6A_ENST00000515090.1_Missense_Mutation_p.Q172H|GPM6A_ENST00000506894.1_Missense_Mutation_p.Q168H|GPM6A_ENST00000393658.2_Missense_Mutation_p.Q179H NM_005277.4 NP_005268.1 P51674 GPM6A_HUMAN glycoprotein M6A 179 cell surface|integral to membrane NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) ACTTACCAAACTGACGAAGGT 0.413000 36 56 2.75727e-19 3.74382e-19 0.021022 1 0 OR6F1 343169 broad.mit.edu 37 1 247875899 247875899 + Missense_Mutation SNP A A T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:247875899A>T ENST00000302084.2 - 1 206 c.159T>A c.(157-159)caT>caA p.H53Q RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TATGCAACTGATGGGAGGTGC 0.478000 41 82 0 0 0.030466 0 0 DSPP 1834 broad.mit.edu 37 4 88533832 88533832 + Missense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr4:88533832G>T ENST00000399271.1 + 4 614 c.494G>T c.(493-495)gGg>gTg p.G165V RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.G165V NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 165 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) ACCCAAAATGGGGATGTTGGC 0.443000 11 26 1.58986e-06 1.80306e-06 0.008291 1 0 CLCN1 1180 broad.mit.edu 37 7 143048757 143048757 + Missense_Mutation SNP A A G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr7:143048757A>G ENST00000343257.2 + 23 2753 c.2666A>G c.(2665-2667)aAc>aGc p.N889S NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 889 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) AGCTTCCGGAACACGACTTCA 0.592000 14 37 0 0 0.016723 0 0 ERCC6 2074 broad.mit.edu 37 10 50708677 50708677 + Missense_Mutation SNP C C G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr10:50708677C>G ENST00000355832.5 - 7 1670 c.1592G>C c.(1591-1593)gGa>gCa p.G531A ERCC6_ENST00000542458.1_5'UTR NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 531 Helicase ATP-binding. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CATTTCATCTCCCAGAATTCC 0.478000 Direct reversal of damage;Nucleotide excision repair (NER) 21 42 0 0 0.012319 0 0 FANCM 57697 broad.mit.edu 37 14 45658096 45658096 + Missense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr14:45658096G>T ENST00000267430.5 + 20 4956 c.4871G>T c.(4870-4872)tGt>tTt p.C1624F FANCM_ENST00000542564.2_Missense_Mutation_p.C1598F NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1624 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 GAAGAAGTTTGTGTTGATTTT 0.318000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 25 55 9.57634e-11 1.18108e-10 0.018920 1 0 SYT10 341359 broad.mit.edu 37 12 33529797 33529797 + Missense_Mutation SNP A A T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr12:33529797A>T ENST00000228567.3 - 7 1836 c.1540T>A c.(1540-1542)Tgc>Agc p.C514S SYT10_ENST00000535526.1_Missense_Mutation_p.C333S NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 514 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GGAGAAGGGCAGGATCCTTGA 0.403000 24 62 0 0 0.021523 0 0 HGF 3082 broad.mit.edu 37 7 81336617 81336617 + Missense_Mutation SNP A A C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr7:81336617A>C ENST00000222390.5 - 14 1831 c.1605T>G c.(1603-1605)tgT>tgG p.C535W HGF_ENST00000457544.2_Missense_Mutation_p.C530W NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 535 Peptidase S1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 GAGAAGGGAAACACTGTCGTG 0.338000 13 25 0 0 0.016723 0 0 TNR 7143 broad.mit.edu 37 1 175365768 175365768 + Missense_Mutation SNP C C G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:175365768C>G ENST00000367674.1 - 5 1860 c.1152G>C c.(1150-1152)gaG>gaC p.E384D TNR_ENST00000263525.2_Missense_Mutation_p.E384D NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 384 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CTGGCTCCAGCTCCGTGATGG 0.587000 21 37 0 0 0.008871 0 0 GOLGA3 2802 broad.mit.edu 37 12 133372559 133372559 + Missense_Mutation SNP T T A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr12:133372559T>A ENST00000204726.3 - 11 2906 c.2348A>T c.(2347-2349)cAg>cTg p.Q783L GOLGA3_ENST00000545875.1_Missense_Mutation_p.Q783L|GOLGA3_ENST00000537452.1_Missense_Mutation_p.Q783L|GOLGA3_ENST00000450791.2_Missense_Mutation_p.Q783L|GOLGA3_ENST00000456883.2_Missense_Mutation_p.Q783L NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 783 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) CTTGGCCGCCTGCAAAGCCGC 0.582000 11 87 0 0 0.010729 0 0 USP38 84640 broad.mit.edu 37 4 144106691 144106691 + Nonsense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr4:144106691G>T ENST00000307017.4 + 1 594 c.88G>T c.(88-90)Gag>Tag p.E30* USP38_ENST00000510377.1_Nonsense_Mutation_p.E30* NM_032557.5 NP_115946.2 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 30 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 33 all_hematologic(180;0.158) GGAATCGGCGGAGCACTGGCT 0.642000 6 50 3.59834e-05 3.95951e-05 0.021553 1 0 SORBS1 10580 broad.mit.edu 37 10 97135812 97135812 + Splice_Site SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr10:97135812C>T ENST00000371247.2 - 19 1844 c.1653_splice c.e19-1 p.S552_splice SORBS1_ENST00000371246.2_Splice_Site_p.S574_splice|SORBS1_ENST00000353505.5_Splice_Site_p.S437_splice|SORBS1_ENST00000277982.5_Splice_Site_p.S574_splice|SORBS1_ENST00000361941.3_Splice_Site_p.S552_splice|SORBS1_ENST00000393949.1_Splice_Site_p.S522_splice|SORBS1_ENST00000371227.4_Splice_Site_p.S506_splice|SORBS1_ENST00000371245.3_Splice_Site_p.S437_splice|SORBS1_ENST00000347291.4_Splice_Site_p.S420_splice|SORBS1_ENST00000354106.3_Splice_Site_p.S522_splice|SORBS1_ENST00000607232.1_Splice_Site_p.S341_splice|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371239.1_Splice_Site_p.S351_splice|SORBS1_ENST00000306402.6_Intron Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 552 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) TATATCCCGACTCTATAGGGG 0.388000 20 25 0 0 0.008871 0 0 LTBP3 4054 broad.mit.edu 37 11 65319748 65319748 + Missense_Mutation SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr11:65319748C>T ENST00000301873.5 - 7 1584 c.1316G>A c.(1315-1317)cGg>cAg p.R439Q LTBP3_ENST00000322147.4_Missense_Mutation_p.R439Q|LTBP3_ENST00000536982.1_Missense_Mutation_p.R65Q NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 439 TB 2. extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 GCGCTGACACCGCGCGCCCCA 0.642000 OREG0021081 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 99 0 0 0.012319 0 0 BNC2 54796 broad.mit.edu 37 9 16429929 16429929 + Missense_Mutation SNP T T C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr9:16429929T>C ENST00000380666.2 - 7 2847 c.2708A>G c.(2707-2709)aAg>aGg p.K903R BNC2_ENST00000380672.4_Intron|BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380667.2_Intron Q6ZN30 BNC2_HUMAN basonuclin 2 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) CGAGGCTCACTTTAGGCTTGA 0.498000 3 9 0 0 0.009096 0 0 CD200R1 131450 broad.mit.edu 37 3 112648254 112648254 + Silent SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr3:112648254C>A ENST00000471858.1 - 3 466 c.234G>T c.(232-234)ctG>ctT p.L78L CD200R1_ENST00000440122.2_Silent_p.L101L|CD200R1_ENST00000295863.4_Silent_p.L56L|CD200R1_ENST00000490004.1_Silent_p.L78L|CD200R1_ENST00000308611.3_Silent_p.L101L NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 78 Ig-like V-type. interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 GCTGGCCTCTCAGGATTATTT 0.423000 15 64 2.35188e-11 2.92503e-11 0.006122 1 0 UGT2B4 7363 broad.mit.edu 37 4 70361289 70361289 + Nonsense_Mutation SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr4:70361289C>T ENST00000305107.6 - 1 337 c.291G>A c.(289-291)tgG>tgA p.W97* UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Nonsense_Mutation_p.W97*|UGT2B4_ENST00000506580.1_5'UTR NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 97 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 GAAGTTCTGCCCATCTCTTAA 0.343000 5 24 0 0 0.021553 0 0 CDH18 1016 broad.mit.edu 37 5 19571797 19571797 + Silent SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr5:19571797G>A ENST00000507958.1 - 10 2134 c.1144C>T c.(1144-1146)Cta>Tta p.L382L CDH18_ENST00000506372.1_Silent_p.L382L|CDH18_ENST00000502796.1_Silent_p.L382L|CDH18_ENST00000511273.1_Silent_p.L382L|CDH18_ENST00000382275.1_Silent_p.L382L|CDH18_ENST00000274170.4_Silent_p.L382L Q13634 CAD18_HUMAN cadherin 18, type 2 382 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) ATGGAAAATAGTGGTGGTTCA 0.428000 60 44 0 0 0.014410 0 0 DSTYK 25778 broad.mit.edu 37 1 205129335 205129335 + Missense_Mutation SNP T T C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:205129335T>C ENST00000367162.3 - 8 2042 c.2012A>G c.(2011-2013)aAc>aGc p.N671S DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Missense_Mutation_p.N671S NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 671 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 TCCTCCCCAGTTGTCACACAG 0.498000 43 104 0 0 0.036044 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 53 0 0 0.029380 0 0 OR6C70 390327 broad.mit.edu 37 12 55863743 55863743 + Silent SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr12:55863743G>A ENST00000327335.4 - 1 179 c.180C>T c.(178-180)ttC>ttT p.F60F RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA NM_001005499.1 NP_001005499.1 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, member 70 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 AATTACGGAGGAAGAAATACA 0.393000 16 33 0 0 0.033300 0 0 STAB2 55576 broad.mit.edu 37 12 104054517 104054517 + Silent SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr12:104054517C>A ENST00000388887.2 + 17 2049 c.1845C>A c.(1843-1845)ctC>ctA p.L615L NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 615 FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CCAACCAGCTCATACAGTTCA 0.453000 22 65 2.79863e-10 3.42312e-10 0.024334 1 0 NTRK2 4915 broad.mit.edu 37 9 87635146 87635146 + Missense_Mutation SNP T T A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr9:87635146T>A ENST00000376214.1 + 20 3136 c.2198T>A c.(2197-2199)aTt>aAt p.I733N NTRK2_ENST00000323115.4_Missense_Mutation_p.I717N|NTRK2_ENST00000376213.1_Missense_Mutation_p.I717N|NTRK2_ENST00000277120.3_Missense_Mutation_p.I733N NM_006180.3 NP_006171.2 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 717 Protein kinase. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 ATGCTGCCCATTCGCTGGATG 0.582000 TSP Lung(25;0.17) 37 85 0 0 0.033182 0 0 RYR2 6262 broad.mit.edu 37 1 237880608 237880608 + Missense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:237880608G>T ENST00000366574.2 + 72 10751 c.10434G>T c.(10432-10434)ttG>ttT p.L3478F RYR2_ENST00000360064.6_Missense_Mutation_p.L3476F|RYR2_ENST00000542537.1_Missense_Mutation_p.L3462F NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3478 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCATTGGGTTGAACATCTGTG 0.493000 12 28 0.00010058 0.000109455 0.013537 1 0 CDH12 1010 broad.mit.edu 37 5 21783553 21783553 + Missense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr5:21783553C>A ENST00000382254.1 - 11 2393 c.1307G>T c.(1306-1308)gGa>gTa p.G436V CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.G436V|CDH12_ENST00000522262.1_Missense_Mutation_p.G396V NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 436 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TCCTTCATTTCCATCTATTGT 0.368000 HNSCC(59;0.17) 54 196 7.50695e-29 1.05311e-28 0.014410 1 0 L3MBTL1 26013 broad.mit.edu 37 20 42158990 42158990 + Missense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr20:42158990G>A ENST00000444063.1 + 7 985 c.853G>A c.(853-855)Gcc>Acc p.A285T L3MBTL1_ENST00000418998.1_Missense_Mutation_p.A353T|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.A353T|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.A285T|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.A285T Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 285 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 CTGGGTCAATGCCAACTCCCC 0.562000 20 77 0 0 0.007413 0 0 UNC79 57578 broad.mit.edu 37 14 94079309 94079309 + Silent SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr14:94079309G>T ENST00000553484.1 + 28 4141 c.3987G>T c.(3985-3987)acG>acT p.T1329T UNC79_ENST00000555664.1_Silent_p.T1307T|UNC79_ENST00000256339.4_Silent_p.T1130T|UNC79_ENST00000393151.2_Silent_p.T1307T Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1307 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CCTTCAACACGGTCAAGCGAC 0.488000 14 53 3.27435e-08 3.84606e-08 0.020292 1 0 MTUS2 23281 broad.mit.edu 37 13 29608081 29608081 + Silent SNP C C G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr13:29608081C>G ENST00000431530.3 + 2 2353 c.2295C>G c.(2293-2295)gtC>gtG p.V765V NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 755 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 ATTATGAAGTCCCTCCAACTT 0.443000 10 24 0 0 0.006214 0 0 BCORL1 63035 broad.mit.edu 37 X 129155080 129155080 + Missense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chrX:129155080C>A ENST00000540052.1 + 4 3606 c.3562C>A c.(3562-3564)Ccg>Acg p.P1188T BCORL1_ENST00000359304.2_Missense_Mutation_p.P1188T|BCORL1_ENST00000218147.7_Missense_Mutation_p.P1188T|BCORL1_ENST00000303743.5_Missense_Mutation_p.P1188T NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1188 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 GCCGACAAAGCCGGAGTCCCA 0.632000 26 29 1.17739e-12 1.48301e-12 0.027356 1 0 MYO18A 399687 broad.mit.edu 37 17 27448136 27448136 + Missense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr17:27448136G>A ENST00000527372.1 - 6 1645 c.1465C>T c.(1465-1467)Cgt>Tgt p.R489C MYO18A_ENST00000533112.1_Missense_Mutation_p.R489C|MYO18A_ENST00000531253.1_Missense_Mutation_p.R489C|MYO18A_ENST00000354329.4_Missense_Mutation_p.R489C NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 489 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) TGATCCTGACGGCTCATCAGC 0.602000 4 11 0 0 0.009096 0 0 TMEM132D 121256 broad.mit.edu 37 12 129569124 129569124 + Silent SNP G G T rs144267550 TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr12:129569124G>T ENST00000422113.2 - 6 1893 c.1567C>A c.(1567-1569)Cgg>Agg p.R523R TMEM132D_ENST00000389441.4_Silent_p.R61R NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 523 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) AGCGGAAGCCGGGGCACCCAC 0.567000 14 32 6.53275e-17 8.71034e-17 0.020292 1 0 OR6F1 343169 broad.mit.edu 37 1 247875544 247875544 + Missense_Mutation SNP G G C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:247875544G>C ENST00000302084.2 - 1 561 c.514C>G c.(514-516)Cgt>Ggt p.R172G RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TTGATGGCACGGGGGCCACAG 0.597000 41 74 0 0 0.010771 0 0 MYO3A 53904 broad.mit.edu 37 10 26446298 26446298 + Silent SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr10:26446298C>T ENST00000265944.5 + 26 3019 c.2853C>T c.(2851-2853)tgC>tgT p.C951C MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 951 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TTGTCCGTTGCATCAAACCAA 0.388000 22 49 0 0 0.018920 0 0 OGT 8473 broad.mit.edu 37 X 70779444 70779444 + Missense_Mutation SNP T T A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chrX:70779444T>A ENST00000373719.3 + 14 1985 c.1768T>A c.(1768-1770)Tgt>Agt p.C590S OGT_ENST00000373701.3_Missense_Mutation_p.C580S NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 590 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) TCAGGTGTTCTGTTATGCCCT 0.433000 15 23 0 0 0.020292 0 0 TLDC1 57707 broad.mit.edu 37 16 84513594 84513594 + Missense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr16:84513594C>A ENST00000343629.6 - 8 1478 c.1296G>T c.(1294-1296)gaG>gaT p.E432D TLDC1_ENST00000535580.1_Missense_Mutation_p.E405D NM_020947.3 NP_065998.3 TBC/LysM-associated domain containing 1 GGGCCTGGGCCTCAGGGTCCG 0.617000 11 17 1.5842e-08 1.87569e-08 0.016723 1 0 SMAD1 4086 broad.mit.edu 37 4 146463737 146463737 + Missense_Mutation SNP A A G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr4:146463737A>G ENST00000515385.1 + 4 1204 c.662A>G c.(661-663)gAt>gGt p.D221G SMAD1_ENST00000302085.4_Missense_Mutation_p.D221G|SMAD1_ENST00000394092.2_Missense_Mutation_p.D221G Q15797 SMAD1_HUMAN SMAD family member 1 221 BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|nuclear inner membrane co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 17 all_hematologic(180;0.151) TTTGTAGCTGATACGCCCCCA 0.468000 16 65 0 0 0.028581 0 0 PEG3 5178 broad.mit.edu 37 19 57326368 57326368 + Missense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr19:57326368G>A ENST00000326441.9 - 10 3805 c.3442C>T c.(3442-3444)Cat>Tat p.H1148Y ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.H1024Y|PEG3_ENST00000423103.2_Missense_Mutation_p.H1148Y|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.H1022Y|ZIM2_ENST00000221722.5_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1148 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTGATGGAATGGGTGTGAATT 0.468000 47 69 0 0 0.014410 0 0 GPR20 2843 broad.mit.edu 37 8 142367203 142367203 + Missense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr8:142367203G>A ENST00000377741.3 - 2 911 c.821C>T c.(820-822)aCg>aTg p.T274M NM_005293.2 NP_005284.2 Q99678 GPR20_HUMAN G protein-coupled receptor 20 274 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 15 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) CACGAGGCTCGTGTGGTGTGG 0.637000 28 187 0 0 0.034045 0 0 ATP8B3 148229 broad.mit.edu 37 19 1791815 1791815 + Missense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr19:1791815G>A ENST00000539485.1 - 20 2499 c.2266C>T c.(2266-2268)Cct>Tct p.P756S ATP8B3_ENST00000525591.1_Missense_Mutation_p.P709S|ATP8B3_ENST00000310127.6_Missense_Mutation_p.P746S O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 746 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATGGTTTCAGGGACACCGTCC 0.622000 14 12 0 0 0.020292 0 0 NLGN3 54413 broad.mit.edu 37 X 70389453 70389453 + Missense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chrX:70389453G>T ENST00000374051.3 + 7 2315 c.1993G>T c.(1993-1995)Ggg>Tgg p.G665W NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.G645W|NLGN3_ENST00000358741.3_Missense_Mutation_p.G685W NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 685 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) GAATGCCCAGGGGTCCTGGAA 0.622000 31 20 4.3181e-19 5.83633e-19 0.013726 1 0 RELN 5649 broad.mit.edu 37 7 103301870 103301870 + Missense_Mutation SNP G G T rs111409626 TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr7:103301870G>T ENST00000424685.2 - 12 1553 c.1394C>A c.(1393-1395)tCc>tAc p.S465Y RELN_ENST00000343529.5_Missense_Mutation_p.S465Y|RELN_ENST00000428762.1_Missense_Mutation_p.S465Y P78509 RELN_HUMAN reelin 465 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AGTGTCCATGGATGGAGTGCA 0.448000 6 45 0.00198382 0.00211989 0.029380 1 0 RUNX1T1 862 broad.mit.edu 37 8 92998504 92998504 + Missense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr8:92998504G>T ENST00000523629.1 - 9 1581 c.1127C>A c.(1126-1128)aCc>aAc p.T376N RUNX1T1_ENST00000265814.3_Missense_Mutation_p.T376N|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.T339N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.T349N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.T387N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.T339N|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.T349N|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.T339N NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 376 Important for oligomerization. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) CCTTAGTACGGTGAGAGATCG 0.453000 42 378 1.41504e-22 1.94814e-22 0.011902 1 0 PLCG2 5336 broad.mit.edu 37 16 81904518 81904518 + Missense_Mutation SNP T T A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr16:81904518T>A ENST00000359376.3 + 7 840 c.626T>A c.(625-627)cTt>cAt p.L209H NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 209 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 TATAAAAAACTTATGTTTGAA 0.348000 7 18 0 0 0.003080 0 0 SLC24A2 25769 broad.mit.edu 37 9 19577011 19577011 + Missense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr9:19577011C>A ENST00000341998.2 - 5 1200 c.1139G>T c.(1138-1140)aGa>aTa p.R380I SLC24A2_ENST00000286344.3_Missense_Mutation_p.R363I NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 380 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) AGCCTTTTCTCTGAACCTCCC 0.517000 27 57 3.80469e-20 5.21384e-20 0.009535 1 0 STK26 51765 broad.mit.edu 37 X 131197496 131197496 + Silent SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chrX:131197496C>A ENST00000394334.2 + 4 562 c.309C>A c.(307-309)ggC>ggA p.G103G MST4_ENST00000394335.2_Silent_p.G26G|MST4_ENST00000354719.6_Silent_p.G103G|MST4_ENST00000481105.1_Silent_p.G125G|MST4_ENST00000496850.1_Silent_p.G103G NM_016542.3 NP_057626.2 Q9P289 MST4_HUMAN 103 Protein kinase. cellular component disassembly involved in apoptosis|regulation of apoptosis cytosol|Golgi membrane ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(192;0.000127) AATACCTGGGCGGTGGTTCAG 0.318000 52 65 1.73933e-33 2.48716e-33 0.014410 1 0 SLITRK2 84631 broad.mit.edu 37 X 144905434 144905434 + Silent SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chrX:144905434C>A ENST00000370490.1 + 1 5746 c.1491C>A c.(1489-1491)acC>acA p.T497T SLITRK2_ENST00000413937.2_Silent_p.T497T|SLITRK2_ENST00000447897.2_Silent_p.T497T|SLITRK2_ENST00000434188.2_Silent_p.T497T|SLITRK2_ENST00000428560.2_Silent_p.T497T Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 497 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) CGGCCCTAACCAGGCTGAATC 0.478000 48 157 8.86878e-18 1.18786e-17 0.014410 1 0 TSGA10 80705 broad.mit.edu 37 2 99685410 99685410 + Missense_Mutation SNP G G C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr2:99685410G>C ENST00000393483.3 - 15 2003 c.1159C>G c.(1159-1161)Cag>Gag p.Q387E TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.Q387E|TSGA10_ENST00000410001.1_Missense_Mutation_p.Q387E|TSGA10_ENST00000355053.4_Missense_Mutation_p.Q387E NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 387 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 TGAACCTTCTGTTTTATGTCA 0.264000 19 41 0 0 0.016522 0 0 CLINT1 9685 broad.mit.edu 37 5 157216486 157216486 + Silent SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr5:157216486G>A ENST00000523094.1 - 11 1621 c.1416C>T c.(1414-1416)acC>acT p.T472T CLINT1_ENST00000523908.1_Silent_p.T490T|CLINT1_ENST00000530742.1_Silent_p.T472T|CLINT1_ENST00000411809.2_Silent_p.T472T|CLINT1_ENST00000296951.5_Silent_p.T472T NM_001195555.1|NM_001195556.1 NP_001182484.1|NP_001182485.1 Q14677 EPN4_HUMAN clathrin interactor 1 472 endocytosis|post-Golgi vesicle-mediated transport clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm clathrin binding|lipid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1) 21 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TAGAGGGCAAGGTTTTGCTGA 0.448000 35 100 0 0 0.027894 0 0 TFAP2A 7020 broad.mit.edu 37 6 10402725 10402725 + Splice_Site SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr6:10402725C>A ENST00000379613.3 - 5 1145 c.889_splice c.e5+1 p.G297_splice TFAP2A_ENST00000319516.4_Splice_Site_p.G291_splice|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000482890.1_Splice_Site_p.G295_splice|TFAP2A_ENST00000379608.3_Splice_Site_p.G289_splice|TFAP2A_ENST00000379604.2_Splice_Site_p.G295_splice P05549 AP2A_HUMAN transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 295 H-S-H (helix-span-helix), dimerization. ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 13 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) ATTCGCTTACCCTCTACTAGT 0.418000 17 49 8.34094e-07 9.5325e-07 0.008871 1 0 GALNT2 2590 broad.mit.edu 37 1 230339028 230339028 + Silent SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:230339028G>A ENST00000366672.4 + 3 438 c.366G>A c.(364-366)cgG>cgA p.R122R GALNT2_ENST00000543760.1_Silent_p.R84R|GALNT2_ENST00000541865.1_Silent_p.R32R NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 122 immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) CTGACACCCGGCATGACCAGT 0.537000 4 124 0 0 0.014758 0 0 HCK 3055 broad.mit.edu 37 20 30674477 30674477 + Silent SNP A A G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr20:30674477A>G ENST00000534862.1 + 10 1185 c.822A>G c.(820-822)ccA>ccG p.P274P HCK_ENST00000520553.1_Silent_p.P273P|HCK_ENST00000538448.1_Silent_p.P273P|HCK_ENST00000375862.2_Silent_p.P293P|HCK_ENST00000518730.1_Silent_p.P272P|HCK_ENST00000375852.2_Silent_p.P294P NM_001172132.1 NP_001165603.1 P08631 HCK_HUMAN hemopoietic cell kinase 294 Protein kinase. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CGATGAAGCCAGGGAGCATGT 0.577000 4 28 0 0 0.014758 0 0 RAB40A 142684 broad.mit.edu 37 X 102755508 102755508 + Silent SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chrX:102755508G>A ENST00000372633.1 - 1 2295 c.177C>T c.(175-177)gaC>gaT p.D59D RAB40A_ENST00000304236.1_Silent_p.D59D Q8WXH6 RB40A_HUMAN RAB40A, member RAS oncogene family 59 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 12 CCCGCTGGCCGTCCAGCAGGA 0.587000 21 173 0 0 0.034045 0 0 USP51 158880 broad.mit.edu 37 X 55513730 55513730 + Nonsense_Mutation SNP G G C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chrX:55513730G>C ENST00000500968.3 - 2 1725 c.1643C>G c.(1642-1644)tCa>tGa p.S548* USP51_ENST00000586165.1_5'UTR NM_201286.3 NP_958443.1 Q70EK9 UBP51_HUMAN ubiquitin specific peptidase 51 548 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 GTCTGTAAGTGAGGGGATTCC 0.498000 15 10 0 0 0.020292 0 0 LAMA5 3911 broad.mit.edu 37 20 60884853 60884853 + Missense_Mutation SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr20:60884853C>T ENST00000252999.3 - 79 10933 c.10867G>A c.(10867-10869)Gcg>Acg p.A3623T NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3623 Laminin G-like 5. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTGCTCTGCGCGTCCACCTCC 0.667000 10 26 0 0 0.010729 0 0 CACNA1E 777 broad.mit.edu 37 1 181735735 181735735 + Silent SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:181735735C>A ENST00000526775.1 + 34 4977 c.4812C>A c.(4810-4812)atC>atA p.I1604I CACNA1E_ENST00000360108.3_Silent_p.I1604I|CACNA1E_ENST00000367570.1_Silent_p.I1623I|CACNA1E_ENST00000367573.2_Silent_p.I1623I|CACNA1E_ENST00000367567.4_Silent_p.I1230I|CACNA1E_ENST00000357570.5_Silent_p.I1574I|CACNA1E_ENST00000358338.5_Silent_p.I1555I NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1623 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TTTATGCCATCATTGGGATGC 0.473000 9 23 0.00448238 0.0047555 0.004482 1 0 KRTAP10-11 386678 broad.mit.edu 37 21 46067232 46067232 + Missense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr21:46067232C>A ENST00000334670.8 + 1 902 c.857C>A c.(856-858)gCc>gAc p.A286D TSPEAR_ENST00000323084.4_Intron NM_198692.2 NP_941965.2 P60411 KR109_HUMAN keratin associated protein 10-11 280 keratin filament NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 12 TCCCGCCTGGCCTGCTACAGC 0.642000 11 34 1.36491e-13 1.74898e-13 0.016723 1 0 GABRB3 2562 broad.mit.edu 37 15 27017582 27017582 + Silent SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr15:27017582G>A ENST00000541819.2 - 4 477 c.375C>T c.(373-375)atC>atT p.I125I GABRB3_ENST00000311550.5_Silent_p.I69I|GABRB3_ENST00000299267.4_Silent_p.I69I|GABRB3_ENST00000557641.1_5'UTR P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 69 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) CGATGCTGGCGATGTCGATGT 0.692000 9 7 0 0 0.008291 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369859 86369859 + Missense_Mutation SNP T T C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr13:86369859T>C ENST00000400286.2 - 2 1383 c.785A>G c.(784-786)aAg>aGg p.K262R NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 262 LRRCT 1. integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) AGATTCCTTCTTTAGTCTACT 0.398000 22 28 0 0 0.012319 0 0 ASTN1 460 broad.mit.edu 37 1 176915135 176915135 + Missense_Mutation SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:176915135C>T ENST00000367654.2 - 13 2213 c.2200G>A c.(2200-2202)Ggg>Agg p.G734R ASTN1_ENST00000367657.3_Missense_Mutation_p.G726R|ASTN1_ENST00000424564.2_Missense_Mutation_p.G726R|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.G726R O14525 ASTN1_HUMAN astrotactin 1 734 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 AACATCTCCCCAAAGAGGGTC 0.502000 36 103 0 0 0.019004 0 0 MAGEE1 57692 broad.mit.edu 37 X 75650019 75650019 + Missense_Mutation SNP C C G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chrX:75650019C>G ENST00000361470.2 + 1 1974 c.1696C>G c.(1696-1698)Cct>Gct p.P566A NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 566 MAGE 1. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CAAACTGGGACCTGTGCCCTT 0.488000 15 20 0 0 0.020292 0 0 KMT2C 58508 broad.mit.edu 37 7 151962209 151962209 + Nonsense_Mutation SNP A A C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr7:151962209A>C ENST00000355193.2 - 8 1316 c.1098T>G c.(1096-1098)taT>taG p.Y366* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Y366* lysine (K)-specific methyltransferase 2C ACATTCCATGATAGTGCTGAC 0.448000 5 292 0 0 0.004482 0 0 DNM1P46 196968 broad.mit.edu 37 15 100340242 100340242 + RNA SNP T T C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr15:100340242T>C ENST00000341853.1 - 0 684 NR_003260.1 GAGTGTCTATTTCTTCCCACG 0.632000 4 10 0 0 0.009096 0 0 CDH5 1003 broad.mit.edu 37 16 66423424 66423424 + Splice_Site SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr16:66423424G>T ENST00000341529.3 + 5 928 c.781_splice c.e5+1 p.Q260_splice CDH5_ENST00000563425.2_Splice_Site_p.Q260_splice NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 260 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) TCTTCACCCAGAGTGAGCCCC 0.602000 31 38 1.62565e-12 2.03034e-12 0.012213 1 0 DCHS1 8642 broad.mit.edu 37 11 6648021 6648021 + Splice_Site SNP T T G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr11:6648021T>G ENST00000299441.3 - 14 6660 c.6250_splice c.e14+1 p.P2083_splice NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 2083 Cadherin 20. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGACCCACCTGGGGGCGCAT 0.582000 11 17 0 0 0.008291 0 0 DOCK2 1794 broad.mit.edu 37 5 169454937 169454937 + Missense_Mutation SNP A A T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr5:169454937A>T ENST00000256935.8 + 34 3532 c.3452A>T c.(3451-3453)cAg>cTg p.Q1151L DOCK2_ENST00000540750.1_Missense_Mutation_p.Q212L|DOCK2_ENST00000520908.1_Missense_Mutation_p.Q643L|DOCK2_ENST00000523351.1_3'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1151 DHR-2.|Interaction with CRKL. 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) CAGTACATGCAGCTCCTGGAG 0.537000 15 57 0 0 0.028581 0 0 PCLO 27445 broad.mit.edu 37 7 82476456 82476456 + Splice_Site SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr7:82476456G>A ENST00000423517.2 - 11 14099 c.13763_splice c.e11+1 p.L4588_splice PCLO_ENST00000426442.2_Intron|PCLO_ENST00000333891.8_Splice_Site_p.L4588_splice NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4476 C2 1. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AAAACTCACAGTCTTACACAT 0.353000 3 13 0 0 0.009096 0 0 FGD6 55785 broad.mit.edu 37 12 95546736 95546736 + Missense_Mutation SNP G G C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr12:95546736G>C ENST00000343958.4 - 4 2843 c.2620C>G c.(2620-2622)Cat>Gat p.H874D FGD6_ENST00000546711.1_Missense_Mutation_p.H874D|FGD6_ENST00000549499.1_Missense_Mutation_p.H874D NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 874 DH. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 TTGGCAATATGATGAACTTTA 0.343000 4 66 0 0 0.009096 0 0 GGN 199720 broad.mit.edu 37 19 38876800 38876800 + Missense_Mutation SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr19:38876800C>T ENST00000334928.6 - 3 1234 c.1102G>A c.(1102-1104)Ggg>Agg p.G368R AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron NM_152657.3 NP_689870.3 Q86UU5 GGN_HUMAN gametogenetin 368 Interaction with GGNBP1 (By similarity).|Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCGCCAGCCCCGTTGAAGCGG 0.697000 5 5 0 0 0.021553 0 0 OR8I2 120586 broad.mit.edu 37 11 55861088 55861088 + Missense_Mutation SNP A A G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr11:55861088A>G ENST00000302124.2 + 1 336 c.305A>G c.(304-306)tAc>tGc p.Y102C OR8I2_ENST00000560768.1_Missense_Mutation_p.Y102C Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) GTTCAAATGTACTTTTTTGTT 0.403000 50 107 0 0 0.014410 0 0 ZNF512B 57473 broad.mit.edu 37 20 62594447 62594447 + Splice_Site SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr20:62594447C>A ENST00000450537.1 - 12 2029 c.e12+1 ZNF512B_ENST00000217130.3_Splice_Site|ZNF512B_ENST00000369888.1_Splice_Site Q96KM6 Z512B_HUMAN zinc finger protein 512B regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) GAGCCACTCACGGGGGCCGTG 0.617000 4 6 0.00024832 0.000268258 0.009096 1 0 FAM135B 51059 broad.mit.edu 37 8 139380162 139380162 + Missense_Mutation SNP A A C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr8:139380162A>C ENST00000395297.1 - 2 235 c.65T>G c.(64-66)cTc>cGc p.L22R NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 22 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TCTCTGAAAGAGATCCACATT 0.398000 HNSCC(54;0.14) 40 192 0 0 0.033182 0 0 CCDC60 160777 broad.mit.edu 37 12 119968728 119968728 + Missense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr12:119968728C>A ENST00000327554.2 + 13 1876 c.1411C>A c.(1411-1413)Ccc>Acc p.P471T RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 471 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GAACTTCCGCCCCGCCAAAAA 0.488000 44 63 1.62263e-30 2.28713e-30 0.014410 1 0 IQSEC3 440073 broad.mit.edu 37 12 283906 283906 + Missense_Mutation SNP C C G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr12:283906C>G ENST00000538872.1 + 14 3374 c.3256C>G c.(3256-3258)Ccc>Gcc p.P1086A IQSEC3_ENST00000326261.4_Missense_Mutation_p.P1086A|IQSEC3_ENST00000537151.1_3'UTR|RP11-598F7.6_ENST00000537295.1_lincRNA Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 1086 Pro-rich. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) GCCACCCACGCCCCCGGGCAC 0.721000 5 16 0 0 0.021553 0 0 COL11A1 1301 broad.mit.edu 37 1 103455108 103455108 + Missense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:103455108C>A ENST00000358392.2 - 29 2713 c.2396G>T c.(2395-2397)gGa>gTa p.G799V COL11A1_ENST00000353414.4_Missense_Mutation_p.G748V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G787V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G671V NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 787 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACCTTTGAATCCTGGAAAACC 0.289000 12 22 2.62699e-14 3.39558e-14 0.024245 1 0 SRMS 6725 broad.mit.edu 37 20 62172566 62172566 + Silent SNP G G C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr20:62172566G>C ENST00000217188.1 - 7 1303 c.1263C>G c.(1261-1263)acC>acG p.T421T NM_080823.2 NP_543013.1 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites 421 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1) 19 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) ACTGGCCATAGGTGAAAACCT 0.632000 18 184 0 0 0.006122 0 0 NALCN 259232 broad.mit.edu 37 13 101881875 101881875 + Missense_Mutation SNP T T C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr13:101881875T>C ENST00000251127.6 - 13 1576 c.1495A>G c.(1495-1497)Ata>Gta p.I499V NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.I499V NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 499 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GGACCAAATATCTTGTACACA 0.388000 109 48 0 0 0.014410 0 0 OR10K1 391109 broad.mit.edu 37 1 158436005 158436005 + Silent SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:158436005C>T ENST00000289451.2 + 1 734 c.654C>T c.(652-654)taC>taT p.Y218Y NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) TAGTCTCCTACATCCGCATCA 0.468000 27 99 0 0 0.021523 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 55 0 0 0.014758 0 0 COL11A1 1301 broad.mit.edu 37 1 103481288 103481288 + Missense_Mutation SNP C C G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:103481288C>G ENST00000358392.2 - 12 1777 c.1460G>C c.(1459-1461)gGa>gCa p.G487A COL11A1_ENST00000353414.4_Missense_Mutation_p.G436A|COL11A1_ENST00000370096.3_Missense_Mutation_p.G475A|COL11A1_ENST00000512756.1_Missense_Mutation_p.G359A NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 475 Triple-helical region (interrupted). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GCCAGGACGTCCTGGGGGGCC 0.348000 10 11 0 0 0.006214 0 0 SYNE1 23345 broad.mit.edu 37 6 152577782 152577782 + Missense_Mutation SNP T T C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr6:152577782T>C ENST00000367255.5 - 102 19692 c.19091A>G c.(19090-19092)gAg>gGg p.E6364G SYNE1_ENST00000265368.4_Missense_Mutation_p.E6364G|SYNE1_ENST00000356820.4_Missense_Mutation_p.E888G|SYNE1_ENST00000423061.1_Missense_Mutation_p.E6293G|SYNE1_ENST00000448038.1_Missense_Mutation_p.E6293G|SYNE1_ENST00000341594.5_Missense_Mutation_p.E5976G NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6364 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGATGAAACCTCCTCGAAGGC 0.468000 HNSCC(10;0.0054) 9 41 0 0 0.004482 0 0 WHSC1 7468 broad.mit.edu 37 4 1918692 1918692 + Missense_Mutation SNP A A C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr4:1918692A>C ENST00000503128.1 + 4 1062 c.855A>C c.(853-855)gaA>gaC p.E285D WHSC1_ENST00000508803.1_Missense_Mutation_p.E285D|WHSC1_ENST00000420906.2_Missense_Mutation_p.E285D|WHSC1_ENST00000382891.5_Missense_Mutation_p.E285D|WHSC1_ENST00000382892.2_Missense_Mutation_p.E285D|WHSC1_ENST00000382895.3_Missense_Mutation_p.E285D|WHSC1_ENST00000398261.1_Missense_Mutation_p.E285D|WHSC1_ENST00000514045.1_Missense_Mutation_p.E285D O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 285 PWWP 1. 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) TAGCTTTTGAAGGAGAAGGAC 0.443000 T IGH@ MM 18 35 0 0 0.006122 0 0 TBCE 6905 broad.mit.edu 37 1 235599075 235599075 + Silent SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:235599075C>T ENST00000543662.1 + 10 1012 c.906C>T c.(904-906)ctC>ctT p.L302L TBCE_ENST00000366601.3_Silent_p.L251L|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Silent_p.L251L Q15813 TBCE_HUMAN tubulin folding cofactor E 251 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) CAGATGTTCTCCAGACAGTCA 0.368000 36 90 0 0 0.019004 0 0 KIFC1 3833 broad.mit.edu 37 6 33371649 33371649 + Missense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr6:33371649C>A ENST00000428849.2 + 6 949 c.499C>A c.(499-501)Ctt>Att p.L167I NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 167 blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 GAACCAGCAGCTTCAGGACCA 0.557000 10 107 0.00829132 0.00876511 0.008291 1 0 EFHB 151651 broad.mit.edu 37 3 19962031 19962031 + Missense_Mutation SNP C C G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr3:19962031C>G ENST00000295824.9 - 2 979 c.818G>C c.(817-819)aGa>aCa p.R273T EFHB_ENST00000344838.4_Missense_Mutation_p.R143T|EFHB_ENST00000498089.1_5'UTR NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 273 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 GGTTGCAACTCTGTAACCAAC 0.378000 12 36 0 0 0.013537 0 0 DNAH8 1769 broad.mit.edu 37 6 38702281 38702281 + Translation_Start_Site SNP A A T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr6:38702281A>T ENST00000359357.3 + 0 245 DNAH8_ENST00000449981.2_Missense_Mutation_p.K214N dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GAGCAACTAAAGGGGCAAAAA 0.363000 36 61 0 0 0.023175 0 0 ZNF831 128611 broad.mit.edu 37 20 57782054 57782054 + Missense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr20:57782054G>A ENST00000371030.2 + 3 3970 c.3970G>A c.(3970-3972)Gca>Aca p.A1324T NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1324 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CCACCCTCCCGCACTTGAGGG 0.552000 5 153 0 0 0.014758 0 0 TTC18 118491 broad.mit.edu 37 10 75037043 75037043 + Silent SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr10:75037043G>T ENST00000310715.3 - 22 2805 c.2685C>A c.(2683-2685)atC>atA p.I895I TTC18_ENST00000355577.3_Silent_p.I364I|TTC18_ENST00000394865.1_Silent_p.I895I|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000401621.2_Silent_p.I895I NM_145170.3 NP_660153.3 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 895 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) TCTCCATGAAGATGGTGGTAG 0.378000 33 41 1.26612e-14 1.65828e-14 0.015359 1 0 GREB1 9687 broad.mit.edu 37 2 11733209 11733209 + Silent SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr2:11733209C>T ENST00000381486.2 + 11 1953 c.1653C>T c.(1651-1653)tgC>tgT p.C551C GREB1_ENST00000234142.5_Silent_p.C551C NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 551 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TCATCATCTGCGCCTGCCGCA 0.662000 8 17 0 0 0.006214 0 0 EFCAB12 90288 broad.mit.edu 37 3 129140321 129140321 + Missense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr3:129140321C>A ENST00000505956.1 - 2 537 c.375G>T c.(373-375)tgG>tgT p.W125C EFCAB12_ENST00000326085.3_Missense_Mutation_p.W125C NM_207307.1 NP_997190.1 EF-hand calcium binding domain 12 TGTTCTCCAGCCACCTCTTTA 0.562000 16 50 5.01169e-05 5.4943e-05 0.033300 1 0 CDK10 8558 broad.mit.edu 37 16 89761706 89761706 + Missense_Mutation SNP C C T rs151021544 TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr16:89761706C>T ENST00000331006.8 + 11 2538 c.797C>T c.(796-798)aCg>aTg p.T266M CDK10_ENST00000353379.7_Missense_Mutation_p.T313M|CDK10_ENST00000505473.1_Missense_Mutation_p.T242M Q15131 CDK10_HUMAN cyclin-dependent kinase 10 313 Protein kinase. negative regulation of cell proliferation|traversing start control point of mitotic cell cycle ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(1) 1 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0276) TCCAGGGCGACGGCCGGGGAC 0.607000 15 72 0 0 0.007413 0 0 TTC29 83894 broad.mit.edu 37 4 147796034 147796034 + Silent SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr4:147796034C>T ENST00000513335.1 - 8 910 c.711G>A c.(709-711)ttG>ttA p.L237L TTC29_ENST00000398886.4_Silent_p.L237L|TTC29_ENST00000325106.4_Silent_p.L211L Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 211 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) GCCCCTGTGTCAATTGATGGA 0.458000 4 30 0 0 0.021553 0 0 PKD1L1 168507 broad.mit.edu 37 7 47970761 47970761 + Missense_Mutation SNP T T A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr7:47970761T>A ENST00000289672.2 - 6 727 c.677A>T c.(676-678)cAg>cTg p.Q226L NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 226 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 GGAGCTGGTCTGAGTGGGTCT 0.607000 18 43 0 0 0.016522 0 0 LYVE1 10894 broad.mit.edu 37 11 10580717 10580717 + Missense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr11:10580717G>T ENST00000256178.3 - 6 1068 c.910C>A c.(910-912)Cca>Aca p.P304T MRVI1-AS1_ENST00000529979.1_RNA|MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000529598.1_Missense_Mutation_p.P200T NM_006691.3 NP_006682.2 Q9Y5Y7 LYVE1_HUMAN lymphatic vessel endothelial hyaluronan receptor 1 304 anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport integral to plasma membrane|membrane fraction central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609) GACTCTTCTGGGTTTTTATCA 0.433000 43 105 1.62957e-23 2.25399e-23 0.033182 1 0 FAT4 79633 broad.mit.edu 37 4 126370496 126370496 + Missense_Mutation SNP G G C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr4:126370496G>C ENST00000394329.3 + 9 8338 c.8325G>C c.(8323-8325)caG>caC p.Q2775H FAT4_ENST00000335110.5_Missense_Mutation_p.Q1073H NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2775 Cadherin 27. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GGTTTTCTCAGATATTTAGTG 0.388000 46 81 0 0 0.014410 0 0 LOC100130331 100130331 broad.mit.edu 37 1 238090285 238090285 + RNA SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:238090285C>A ENST00000450451.1 + 0 1791 NR_027247.2 CAGAAGGACTCCTACGTGGGC 0.602000 13 36 1.05317e-09 1.26723e-09 0.020292 1 0 SOCS5 9655 broad.mit.edu 37 2 46986926 46986926 + Silent SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr2:46986926C>T ENST00000306503.5 + 2 1429 c.1257C>T c.(1255-1257)ttC>ttT p.F419F SOCS5_ENST00000394861.2_Silent_p.F419F NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 419 SH2. cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) CTGTGAGCTTCCGCCGCTACA 0.517000 34 56 0 0 0.012213 0 0 TNRC18 84629 broad.mit.edu 37 7 5410417 5410417 + Missense_Mutation SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr7:5410417C>T ENST00000399537.4 - 11 4156 c.3808G>A c.(3808-3810)Gtg>Atg p.V1270M TNRC18_ENST00000430969.1_Missense_Mutation_p.V1270M O15417 TNC18_HUMAN trinucleotide repeat containing 18 1270 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GCCTCCACCACGGGCACCGCC 0.701000 4 9 0 0 0.009096 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 3 47 0 0 0.009096 0 0 ZFHX3 463 broad.mit.edu 37 16 72993137 72993137 + Missense_Mutation SNP T T C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr16:72993137T>C ENST00000268489.5 - 2 1580 c.908A>G c.(907-909)cAt>cGt p.H303R ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 303 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TCGATGGTCATGCACCGCGTG 0.502000 13 52 0 0 0.020292 0 0 IL9R 3581 broad.mit.edu 37 X 155233373 155233373 + Missense_Mutation SNP A A G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chrX:155233373A>G ENST00000424344.3 + 5 590 c.223A>G c.(223-225)Atc>Gtc p.I75V IL9R_ENST00000369423.2_Silent_p.A140A|IL9R_ENST00000244174.5_Missense_Mutation_p.I96V|IL9R_ENST00000540897.1_Silent_p.A130A Q01113 IL9R_HUMAN interleukin 9 receptor 96 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ACATAAGTGCATCTTGCGGGG 0.582000 15 11 0 0 0.028581 0 0 RPN1 6184 broad.mit.edu 37 3 128356934 128356934 + Missense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr3:128356934G>A ENST00000296255.3 - 3 389 c.341C>T c.(340-342)aCa>aTa p.T114I RPN1_ENST00000497289.1_5'UTR NM_002950.3 NP_002941.1 P04843 RPN1_HUMAN ribophorin I 114 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2) 13 GBM - Glioblastoma multiforme(114;0.189) GAGCTTGACTGTGAAGAATCT 0.443000 T EVI1 AML 5 29 0 0 0.014758 0 0 VASH1 22846 broad.mit.edu 37 14 77242295 77242295 + Missense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr14:77242295C>A ENST00000167106.4 + 5 1224 c.591C>A c.(589-591)ttC>ttA p.F197L VASH1_ENST00000556038.1_3'UTR|RP11-488C13.6_ENST00000556368.1_RNA NM_014909.4 NP_055724.1 Q7L8A9 VASH1_HUMAN vasohibin 1 197 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3) 10 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) AGACCTACTTCTCAGGGAACT 0.617000 4 11 0.00024832 0.000268258 0.009096 1 0 PCLO 27445 broad.mit.edu 37 7 82544659 82544659 + Missense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr7:82544659C>A ENST00000423517.2 - 7 12980 c.12643G>T c.(12643-12645)Gat>Tat p.D4215Y PCLO_ENST00000333891.8_Missense_Mutation_p.D4215Y|PCLO_ENST00000437081.1_Missense_Mutation_p.D935Y NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4146 Ser-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTTGAATAATCAGGTTCAAGG 0.373000 13 26 0.00244969 0.00260831 0.020292 1 0 SLC7A13 157724 broad.mit.edu 37 8 87242275 87242275 + Nonsense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr8:87242275C>A ENST00000297524.3 - 1 335 c.232G>T c.(232-234)Gga>Tga p.G78* SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Nonsense_Mutation_p.G78* NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 78 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 TATTGAGCTCCACTGCATGGG 0.493000 111 43 9.69585e-32 1.37319e-31 0.014410 1 0 CXCL12 6387 broad.mit.edu 37 10 44871481 44871481 + Splice_Site SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr10:44871481C>T ENST00000374426.2 - 4 304 c.e4-1 CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395795.4_Intron NM_001033886.2 NP_001029058.1 P48061 SDF1_HUMAN chemokine (C-X-C motif) ligand 12 blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity endometrium(1)|large_intestine(1)|lung(3)|skin(1) 6 Dexamethasone(DB01234) TCTGCGCCCCCTTAGATAAAA 0.373000 14 74 0 0 0.016723 0 0 NUP188 23511 broad.mit.edu 37 9 131711500 131711500 + Nonsense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr9:131711500G>T ENST00000482796.1 + 2 127 c.127G>T c.(127-129)Gaa>Taa p.E43* NUP188_ENST00000550219.1_3'UTR|NUP188_ENST00000372577.2_Missense_Mutation_p.G22V ATTCTGCTTGGAAGGTCAGCT 0.408000 19 39 1.10513e-12 1.39795e-12 0.014323 1 0 SH2B2 10603 broad.mit.edu 37 7 101957824 101957824 + Missense_Mutation SNP G G A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr7:101957824G>A ENST00000536178.1 + 8 1513 c.1468G>A c.(1468-1470)Gag>Aag p.E490K SH2B2_ENST00000306803.8_Missense_Mutation_p.E452K O14492 SH2B2_HUMAN SH2B adaptor protein 2 453 SH2. blood coagulation|insulin receptor signaling pathway|intracellular signal transduction cytosol|plasma membrane JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 9 TCGGCCTGGGGAGTACGTGCT 0.657000 6 10 0 0 0.003080 0 0 AFAP1L1 134265 broad.mit.edu 37 5 148691741 148691741 + Missense_Mutation SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr5:148691741C>T ENST00000296721.4 + 9 1092 c.994C>T c.(994-996)Ctc>Ttc p.L332F AFAP1L1_ENST00000515000.1_Missense_Mutation_p.L332F NM_001146337.1|NM_152406.2 NP_001139809.1|NP_689619.1 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 332 protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCCCCAGTCCTCCTGTGCAA 0.592000 23 201 0 0 0.027356 0 0 TRPA1 8989 broad.mit.edu 37 8 72964964 72964964 + Missense_Mutation SNP C C A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr8:72964964C>A ENST00000262209.4 - 14 1888 c.1681G>T c.(1681-1683)Gcc>Tcc p.A561S RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_3'UTR NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 561 integral to plasma membrane p.A561T(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) ACGGCTTTGGCGTGGCCTTCC 0.468000 75 98 7.62596e-35 1.09577e-34 0.014410 1 0 OR13C2 392376 broad.mit.edu 37 9 107367545 107367545 + Missense_Mutation SNP G G C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr9:107367545G>C ENST00000542196.1 - 1 406 c.364C>G c.(364-366)Cgc>Ggc p.R122G NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122S(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 GCCACATAGCGGTCAAAGGCC 0.517000 32 122 0 0 0.027894 0 0 RYR2 6262 broad.mit.edu 37 1 237880604 237880604 + Missense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:237880604G>T ENST00000366574.2 + 72 10747 c.10430G>T c.(10429-10431)gGg>gTg p.G3477V RYR2_ENST00000360064.6_Missense_Mutation_p.G3475V|RYR2_ENST00000542537.1_Missense_Mutation_p.G3461V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3477 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTGCCCATTGGGTTGAACATC 0.488000 12 30 0.00010058 0.000109455 0.013537 1 0 GYS2 2998 broad.mit.edu 37 12 21713361 21713361 + Missense_Mutation SNP G G T rs139043251 byFrequency TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr12:21713361G>T ENST00000261195.2 - 8 1382 c.1128C>A c.(1126-1128)aaC>aaA p.N376K NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 376 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GGGTTTCCACGTTGAAATTAT 0.373000 20 86 1.87028e-06 2.11299e-06 0.012319 1 0 VPS13C 54832 broad.mit.edu 37 15 62176408 62176408 + Silent SNP C C T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr15:62176408C>T ENST00000261517.5 - 68 9475 c.9402G>A c.(9400-9402)caG>caA p.Q3134Q VPS13C_ENST00000249837.3_Silent_p.Q3091Q|VPS13C_ENST00000395898.3_Silent_p.Q3091Q|VPS13C_ENST00000395896.4_Silent_p.Q3134Q NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 3134 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 ATAAGATTATCTGCTTTTGAC 0.313000 17 46 0 0 0.028581 0 0 HCRTR2 3062 broad.mit.edu 37 6 55039538 55039538 + Silent SNP A A G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr6:55039538A>G ENST00000370862.3 + 1 489 c.153A>G c.(151-153)aaA>aaG p.K51K NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 51 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TGCACCCGAAAGAATATGAGT 0.557000 28 100 0 0 0.030593 0 0 HMCN1 83872 broad.mit.edu 37 1 186143734 186143734 + Silent SNP A A G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:186143734A>G ENST00000271588.4 + 103 16132 c.15903A>G c.(15901-15903)ccA>ccG p.P5301P HMCN1_ENST00000367492.2_Silent_p.P5301P NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 5301 EGF-like 5; calcium-binding (Potential). response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GTGTATGCCCAAGAGGTTATC 0.423000 18 34 0 0 0.007413 0 0 PLCH1 23007 broad.mit.edu 37 3 155210596 155210596 + Missense_Mutation SNP T T A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr3:155210596T>A ENST00000460012.1 - 18 2496 c.2139A>T c.(2137-2139)aaA>aaT p.K713N PLCH1_ENST00000447496.2_Missense_Mutation_p.K731N|PLCH1_ENST00000340059.7_Missense_Mutation_p.K731N|PLCH1_ENST00000334686.6_Missense_Mutation_p.K713N|PLCH1_ENST00000414191.1_Missense_Mutation_p.K713N|PLCH1_ENST00000494598.1_Missense_Mutation_p.K731N Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 731 PI-PLC Y-box. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGAGCTGCTTTTTGGGGTTGG 0.473000 11 71 0 0 0.016723 0 0 ILDR2 387597 broad.mit.edu 37 1 166927096 166927096 + Missense_Mutation SNP T T A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:166927096T>A ENST00000271417.3 - 2 344 c.289A>T c.(289-291)Agg>Tgg p.R97W ILDR2_ENST00000528703.1_Missense_Mutation_p.R97W|ILDR2_ENST00000469934.2_Missense_Mutation_p.R97W|ILDR2_ENST00000529387.1_Missense_Mutation_p.R97W|ILDR2_ENST00000526687.1_Missense_Mutation_p.R97W|ILDR2_ENST00000525740.1_Missense_Mutation_p.R97W|ILDR2_ENST00000529071.1_Missense_Mutation_p.R97W NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 97 Ig-like V-type. integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 ACAGTCCTCCTGCTGTCCAAA 0.517000 18 96 0 0 0.006122 0 0 ZNF304 57343 broad.mit.edu 37 19 57867553 57867553 + Nonsense_Mutation SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr19:57867553G>T ENST00000391705.3 + 4 600 c.316G>T c.(316-318)Gaa>Taa p.E106* ZNF304_ENST00000443917.2_Nonsense_Mutation_p.E153*|ZNF304_ENST00000598744.1_Nonsense_Mutation_p.E64*|ZNF304_ENST00000282286.5_Nonsense_Mutation_p.E106* NM_020657.2 NP_065708.2 Q9HCX3 ZN304_HUMAN zinc finger protein 304 106 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1) 26 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) GCACCTGGCTGAACACCAGGG 0.493000 6 30 3.59834e-05 3.95951e-05 0.021553 1 0 CDH7 1005 broad.mit.edu 37 18 63511198 63511198 + Missense_Mutation SNP T T A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr18:63511198T>A ENST00000536984.2 + 7 1826 c.1132T>A c.(1132-1134)Tct>Act p.S378T CDH7_ENST00000397968.2_Missense_Mutation_p.S378T|CDH7_ENST00000323011.3_Missense_Mutation_p.S378T Q9ULB5 CADH7_HUMAN cadherin 7, type 2 378 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) CCCTGTGTTCTCTTCACCCTT 0.493000 51 42 0 0 0.014410 0 0 LAD1 3898 broad.mit.edu 37 1 201356087 201356087 + Silent SNP G G C TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr1:201356087G>C ENST00000391967.2 - 3 703 c.402C>G c.(400-402)tcC>tcG p.S134S LAD1_ENST00000367313.3_Silent_p.S148S NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 134 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 GTTCCTTCTTGGAGACTAGGG 0.647000 21 65 0 0 0.014323 0 0 DMXL1 1657 broad.mit.edu 37 5 118468905 118468905 + Nonsense_Mutation SNP C C G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr5:118468905C>G ENST00000311085.8 + 11 1474 c.1394C>G c.(1393-1395)tCa>tGa p.S465* DMXL1_ENST00000539542.1_Nonsense_Mutation_p.S465* NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 465 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GTACCAAACTCAAGTTTTACA 0.348000 27 91 0 0 0.021523 0 0 PDE1C 5137 broad.mit.edu 37 7 31862700 31862700 + Silent SNP G G T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr7:31862700G>T ENST00000396184.3 - 15 1773 c.1569C>A c.(1567-1569)gcC>gcA p.A523A PDE1C_ENST00000321453.7_Silent_p.A523A|PDE1C_ENST00000396191.1_Silent_p.A523A|PDE1C_ENST00000396182.2_Silent_p.A523A|PDE1C_ENST00000396193.1_Silent_p.A583A NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 523 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TGGGTACCTTGGCCCTCCATC 0.453000 28 89 2.65835e-16 3.51281e-16 0.034045 1 0 FAM83D 81610 broad.mit.edu 37 20 37580937 37580937 + Missense_Mutation SNP T T G TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr20:37580937T>G ENST00000217429.4 + 4 1663 c.1622T>G c.(1621-1623)cTg>cGg p.L541R NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 511 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) CCCAAGTACCTGGGCACCCCC 0.542000 7 36 0 0 0.029380 0 0 SLC40A1 30061 broad.mit.edu 37 2 190428482 190428484 + In_Frame_Del DEL TGA TGA - TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr2:190428482_190428484delTGA ENST00000261024.2 - 7 1654_1656 c.1228_1230delTCA c.(1228-1230)del p.S410del NM_014585.5 NP_055400.1 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated transporter), member 1 410 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) GAATGAACCTTGATCGGATATCT 0.419 13 63 --- --- --- --- IMPG2 50939 broad.mit.edu 37 3 100951633 100951633 + Frame_Shift_Del DEL G G - TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr3:100951633delG ENST00000193391.7 - 15 3412 c.3225delC c.(3223-3225)gcfs p.A1075fs NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 1075 EGF-like 2. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 ACCTACAAATGGCCCCGTGCC 0.433 18 16 --- --- --- --- CD200 4345 broad.mit.edu 37 3 112054808 112054808 + Frame_Shift_Del DEL G G - TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr3:112054808delG ENST00000473539.1 + 2 88 c.31delG c.(31-33)ggfs p.G12fs CD200_ENST00000315711.8_Intron|CD200_ENST00000383681.3_Intron|CD200_ENST00000607516.1_3'UTR NM_001004196.2 NP_001004196.2 P41217 OX2G_HUMAN CD200 molecule 0 regulation of immune response integral to plasma membrane endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05) CAGGACAATTGGGGGCCCTCT 0.453 26 90 --- --- --- --- PARP14 54625 broad.mit.edu 37 3 122437372 122437373 + Frame_Shift_Ins INS - - A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr3:122437372_122437373insA ENST00000474629.2 + 14 4640_4641 c.4374_4375insA c.(4372-4377)acgtgafs p.*1459fs PARP14_ENST00000475640.1_3'UTR NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1459 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) GTCCTTACACCAGTGAAGATGA 0.406 12 86 --- --- --- --- SLC27A6 28965 broad.mit.edu 37 5 128364079 128364079 + Frame_Shift_Del DEL T T - TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr5:128364079delT ENST00000262462.4 + 8 2506 c.1496delT c.(1495-1497)gtfs p.V499fs SLC27A6_ENST00000506176.1_Frame_Shift_Del_p.V499fs|SLC27A6_ENST00000395266.1_Frame_Shift_Del_p.V499fs Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 499 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) GTTGCTGATGTTATTGGAATG 0.343 22 43 --- --- --- --- LRRC16A 55604 broad.mit.edu 37 6 25472722 25472723 + Frame_Shift_Ins INS - - T TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr6:25472722_25472723insT ENST00000329474.6 + 11 1215_1216 c.847_848insT c.(847-849)tgcfs p.C283fs LRRC16A_ENST00000377969.3_Frame_Shift_Ins_p.C122fs NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 283 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 CACAATTAACCTTGCTGGCAAC 0.401 5 4 --- --- --- --- MS4A14 84689 broad.mit.edu 37 11 60183801 60183801 + Frame_Shift_Del DEL C C - TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr11:60183801delC ENST00000300187.6 + 5 1637 c.1360delC c.(1360-1362)aafs p.Q454fs MS4A14_ENST00000395005.2_Frame_Shift_Del_p.Q437fs|MS4A14_ENST00000531783.1_Frame_Shift_Del_p.Q487fs|MS4A14_ENST00000531787.1_Frame_Shift_Del_p.Q342fs NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 454 Gln-rich. integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 GCAAATTTTACAAATGTCATA 0.398 22 51 --- --- --- --- MYF5 4617 broad.mit.edu 37 12 81111289 81111289 + Frame_Shift_Del DEL G G - rs141800220 TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr12:81111289delG ENST00000228644.3 + 1 599 c.447delG c.(445-447)ccfs p.P149fs NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 149 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 ATAGCCTGCCGGGACAGAGCT 0.557 57 205 --- --- --- --- SERPINA6 866 broad.mit.edu 37 14 94770871 94770871 + Frame_Shift_Del DEL G G - TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr14:94770871delG ENST00000341584.3 - 5 1248 c.1102delC c.(1102-1104)tafs p.L368fs NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 368 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) GTCAGGTTTAGGGTGACCCCA 0.522 19 42 --- --- --- --- CYP11A1 1583 broad.mit.edu 37 15 74630957 74630958 + Frame_Shift_Ins INS - - A TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr15:74630957_74630958insA ENST00000358632.4 - 8 1609_1610 c.914_915insT c.(913-915)cggfs p.R305fs CYP11A1_ENST00000419019.2_Frame_Shift_Ins_p.R305fs|CYP11A1_ENST00000268053.6_Frame_Shift_Ins_p.R463fs NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 463 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) TCCGCCGTCCCAGACACTGCCG 0.559 35 68 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 15 279 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577089 7577094 + In_Frame_Del DEL GCGCCG GCGCCG - rs28934574 byFrequency TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr17:7577089_7577094delGCGCCG ENST00000420246.2 - 8 976_981 c.844_849delCGGCGC c.(844-849)del p.RR282del TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_In_Frame_Del_p.RR282del|TP53_ENST00000269305.4_In_Frame_Del_p.RR282del|TP53_ENST00000445888.2_In_Frame_Del_p.RR282del|TP53_ENST00000455263.2_In_Frame_Del_p.RR282del 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.R283P(27)|p.R282Q(27)|p.R283C(17)|p.R282P(17)|p.R283H(13)|p.R282R(10)|p.0?(8)|p.R283L(4)|p.R283R(4)|p.R283fs*62(4)|p.R282fs*24(4)|p.R282L(3)|p.R282H(3)|p.R283G(2)|p.T284fs*62(2)|p.R283fs*63(2)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.T284fs*21(1)|p.T284fs*61(1)|p.R283del(1)|p.R283S(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.D281_R282delDR(1)|p.R280fs*62(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) CTTCCTCTGTGCGCCGGTCTCTCCCA 0.563 111 """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) 12 21 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684390 26684391 + Frame_Shift_Ins INS - - C rs148075904 by1000genomes TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chr17:26684390_26684391insC ENST00000540200.1 - 2 80_81 c.81_82insG c.(79-84)aacgctfs p.NA27fs POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 28 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) GCACAGAGCGGCTTTGCCACCG 0.762 4 4 --- --- --- --- CLDN2 9075 broad.mit.edu 37 X 106171515 106171515 + Frame_Shift_Del DEL G G - TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chrX:106171515delG ENST00000541806.1 + 2 576 c.57delG c.(55-57)ttfs p.L19fs CLDN2_ENST00000540876.1_Frame_Shift_Del_p.L19fs|CLDN2_ENST00000336803.1_Frame_Shift_Del_p.L19fs NM_001171092.1 NP_001164563.1 P57739 CLD2_HUMAN claudin 2 19 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 TGGGGCTTTTGGGCACACTGG 0.562 48 88 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639633 149639635 + In_Frame_Del DEL GCA GCA - TCGA-75-7031-01A-11D-1945-08 TCGA-75-7031-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7fda57af-d3b4-42ec-bb6e-83aed3a1d991 9c9f0f63-92aa-46bc-ad5b-963d01a31c27 g.chrX:149639633_149639635delGCA ENST00000370401.2 + 4 2098_2100 c.1788_1790delGCA c.(1786-1791)ctg>ct p.LQ596del MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del Q13495 MAMD1_HUMAN mastermind-like domain containing 1 596 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) CCTTgcagctgcagcagcagcag 0.611 9 184 --- --- --- ---