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 ADD1 118 broad.mit.edu 37 4 2930158 2930158 + Missense_Mutation SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr4:2930158G>A ENST00000264758.7 + 15 2403 c.2215G>A c.(2215-2217)Gat>Aat p.D739N ADD1_ENST00000398129.1_Missense_Mutation_p.D708N|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000446856.1_Missense_Mutation_p.D708N|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000513328.2_3'UTR NM_014189.3 NP_054908.2 P35611 ADDA_HUMAN adducin 1 (alpha) 708 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CCCTGGCAGCGATGGGTCTCC 0.632000 28 99 0 0 0.007291 0 0 AMER2 219287 broad.mit.edu 37 13 25744231 25744231 + Silent SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr13:25744231C>T ENST00000357816.2 - 3 1645 c.1170G>A c.(1168-1170)ccG>ccA p.P390P AMER2_ENST00000515384.1_Silent_p.P509P|AMER2_ENST00000381853.3_Silent_p.P390P APC membrane recruitment protein 2 GCTCCTTCTCCGGGTGCTTGG 0.652000 18 65 0 0 0.006122 0 0 PEX19 5824 broad.mit.edu 37 1 160253344 160253344 + Silent SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr1:160253344C>T ENST00000368072.5 - 2 177 c.156G>A c.(154-156)aaG>aaA p.K52K PEX19_ENST00000440949.3_5'UTR|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_Intron NM_001193644.1|NM_002857.3 NP_001180573.1|NP_002848.1 peroxisomal biogenesis factor 19 cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2) 11 all_cancers(52;1.27e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTGGCGATCTCTTCTGGGGCC 0.577000 21 50 0 0 0.002780 0 0 TP53 7157 broad.mit.edu 37 17 7578196 7578196 + Missense_Mutation SNP A A C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr17:7578196A>C ENST00000420246.2 - 6 785 c.653T>G c.(652-654)gTg>gGg p.V218G TP53_ENST00000413465.2_Missense_Mutation_p.V218G|TP53_ENST00000359597.4_Missense_Mutation_p.V218G|TP53_ENST00000455263.2_Missense_Mutation_p.V218G|TP53_ENST00000269305.4_Missense_Mutation_p.V218G|TP53_ENST00000445888.2_Missense_Mutation_p.V218G|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 218 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(11)|p.V218E(8)|p.0?(8)|p.V218G(5)|p.V218del(5)|p.V218A(3)|p.D208fs*1(1)|p.V216fs*28(1)|p.V218fs*26(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(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) CTCATAGGGCACCACCACACT 0.552000 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) 9 26 0 0 0.006214 0 0 ITPKC 80271 broad.mit.edu 37 19 41223543 41223543 + Missense_Mutation SNP G G T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr19:41223543G>T ENST00000263370.2 + 1 536 c.503G>T c.(502-504)gGg>gTg p.G168V NM_025194.2 NP_079470.1 Q96DU7 IP3KC_HUMAN inositol-trisphosphate 3-kinase C 168 cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 14 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) ACACAGCCAGGGGTTCATGGG 0.607000 19 40 1.15919e-05 1.97672e-05 0.008871 1 0 FAT1 2195 broad.mit.edu 37 4 187522449 187522449 + Nonsense_Mutation SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr4:187522449G>A ENST00000441802.2 - 21 11823 c.11614C>T c.(11614-11616)Cga>Tga p.R3872* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3872 Laminin G-like. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TCAGTTCCTCGAGCATACATG 0.393000 HNSCC(5;0.00058) 11 27 0 0 0.001368 0 0 ACVR2A 92 broad.mit.edu 37 2 148653878 148653878 + Missense_Mutation SNP C C G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr2:148653878C>G ENST00000241416.7 + 2 700 c.64C>G c.(64-66)Ctt>Gtt p.L22V ACVR2A_ENST00000404590.1_Missense_Mutation_p.L22V|ACVR2A_ENST00000535787.1_Intron NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 22 activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) AGGTGCTATACTTGGTAGATC 0.328000 7 49 0 0 0.001984 0 0 SRMS 6725 broad.mit.edu 37 20 62178520 62178520 + Silent SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr20:62178520G>A ENST00000217188.1 - 1 337 c.297C>T c.(295-297)gcC>gcT p.A99A NM_080823.2 NP_543013.1 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites 99 SH3. 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) GCACGAGCCCGGCGCTGGGCT 0.697000 25 48 0 0 0.005443 0 0 LRRC6 23639 broad.mit.edu 37 8 133622423 133622423 + Missense_Mutation SNP A A T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr8:133622423A>T ENST00000519595.1 - 10 1227 c.1129T>A c.(1129-1131)Tgc>Agc p.C377S LRRC6_ENST00000250173.1_Missense_Mutation_p.C377S|LRRC6_ENST00000518642.1_Missense_Mutation_p.C374S Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 377 CS. cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TTGGGCATGCAGATGACCAAA 0.433000 12 78 0 0 0.001368 0 0 PDILT 204474 broad.mit.edu 37 16 20371931 20371931 + Silent SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr16:20371931G>A ENST00000302451.4 - 11 1713 c.1465C>T c.(1465-1467)Ctg>Ttg p.L489L NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 489 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TGGCTTTCCAGGAAGTCAGAG 0.473000 50 190 0 0 0.003610 0 0 RIBC1 158787 broad.mit.edu 37 X 53455530 53455530 + Nonsense_Mutation SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chrX:53455530C>T ENST00000457095.1 + 5 703 c.499C>T c.(499-501)Caa>Taa p.Q167* RIBC1_ENST00000375327.3_Nonsense_Mutation_p.Q167*|RIBC1_ENST00000490702.1_3'UTR|RIBC1_ENST00000414955.2_Intron NM_144968.2 NP_659405.1 Q8N443 RIBC1_HUMAN RIB43A domain with coiled-coils 1 167 lung(2) 2 CTTGGAAAGGCAACAGCAGGA 0.562000 15 9 0 0 0.003163 0 0 PNPLA7 375775 broad.mit.edu 37 9 140437130 140437130 + Silent SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr9:140437130C>T ENST00000406427.1 - 7 966 c.630G>A c.(628-630)gtG>gtA p.V210V PNPLA7_ENST00000277531.4_Silent_p.V185V NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 185 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GCCCGTCCTGCACCACACAGA 0.642000 17 40 0 0 0.007413 0 0 DDX53 168400 broad.mit.edu 37 X 23019111 23019111 + Nonsense_Mutation SNP G G T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chrX:23019111G>T ENST00000327968.5 + 1 1025 c.937G>T c.(937-939)Gaa>Taa p.E313* RP11-40F8.2_ENST00000455399.1_RNA NM_182699.3 NP_874358.2 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 313 Helicase ATP-binding. nucleus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 35 TCTTCACGTGGAAGCTGAATG 0.398000 24 49 5.24475e-26 9.65511e-26 0.004656 1 0 POTEC 388468 broad.mit.edu 37 18 14530502 14530502 + Missense_Mutation SNP G G C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr18:14530502G>C ENST00000358970.5 - 6 1105 c.1106C>G c.(1105-1107)tCt>tGt p.S369C POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 369 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GTTTTCAGAAGAGATTTTTAG 0.303000 3 27 0 0 0.000248 0 0 ATG2B 55102 broad.mit.edu 37 14 96756776 96756776 + Missense_Mutation SNP T T C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr14:96756776T>C ENST00000359933.4 - 40 6746 c.5853A>G c.(5851-5853)atA>atG p.I1951M ATG2B_ENST00000261834.5_5'UTR NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1951 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) AAGATACCTGTATGGTTTGAA 0.423000 23 65 0 0 0.002780 0 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 33647430 33647430 + Missense_Mutation SNP C C A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr16:33647430C>A ENST00000558425.1 - 2 169 c.170G>T c.(169-171)cGc>cTc p.R57L TGGAGCCTGGCGGACCCAGCT 0.552000 63 249 2.6711e-34 4.94535e-34 0.003610 1 0 WSCD1 23302 broad.mit.edu 37 17 5993711 5993711 + Missense_Mutation SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr17:5993711G>A ENST00000574946.1 + 4 1003 c.613G>A c.(613-615)Gtg>Atg p.V205M WSCD1_ENST00000574232.1_Missense_Mutation_p.V205M|WSCD1_ENST00000573634.1_Missense_Mutation_p.V89M|WSCD1_ENST00000317744.5_Missense_Mutation_p.V205M|WSCD1_ENST00000539421.1_Missense_Mutation_p.V205M Q658N2 WSCD1_HUMAN WSC domain containing 1 205 WSC 1. integral to membrane sulfotransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1) 35 AGCGGTGAGCGTGGGGCTGGA 0.662000 17 59 0 0 0.004990 0 0 TBX22 50945 broad.mit.edu 37 X 79281179 79281179 + Missense_Mutation SNP A A T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chrX:79281179A>T ENST00000442340.1 + 5 666 c.176A>T c.(175-177)cAc>cTc p.H59L TBX22_ENST00000373296.3_Missense_Mutation_p.H179L|TBX22_ENST00000373291.1_Missense_Mutation_p.H59L|TBX22_ENST00000373294.5_Missense_Mutation_p.H179L NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 179 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TTCTATGTTCACCCGGACTCA 0.488000 25 71 0 0 0.002780 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651117 84651117 + Missense_Mutation SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr15:84651117C>T ENST00000286744.5 + 21 2961 c.2737C>T c.(2737-2739)Cgt>Tgt p.R913C ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R913C NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 913 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GGAAGAGAAGCGTATTAACCT 0.473000 18 84 0 0 0.006122 0 0 LAGE3 8270 broad.mit.edu 37 X 153706741 153706741 + Silent SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chrX:153706741G>A ENST00000357360.4 - 2 539 c.198C>T c.(196-198)agC>agT p.S66S LAGE3_ENST00000407062.1_Silent_p.S66S NM_006014.3 NP_006005.2 Q14657 LAGE3_HUMAN L antigen family, member 3 66 protein binding lung(2) 2 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGAAAGGCACGCTGAGGGTGC 0.602000 24 110 0 0 0.004656 0 0 C7 730 broad.mit.edu 37 5 40936557 40936557 + Missense_Mutation SNP C C A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr5:40936557C>A ENST00000313164.9 + 5 757 c.398C>A c.(397-399)cCt>cAt p.P133H NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 133 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) ATCGATAAACCTCCTCCTAAC 0.403000 17 26 6.94344e-10 1.21604e-09 0.006122 1 0 ATR 545 broad.mit.edu 37 3 142185265 142185265 + Missense_Mutation SNP C C G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr3:142185265C>G ENST00000350721.4 - 40 6919 c.6798G>C c.(6796-6798)atG>atC p.M2266I ATR_ENST00000383101.3_Missense_Mutation_p.M2202I|RP11-383G6.3_ENST00000460977.1_RNA NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2266 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GTGTAGGTATCATGACTGATT 0.403000 Other conserved DNA damage response genes 9 49 0 0 0.006214 0 0 ATP2A1 487 broad.mit.edu 37 16 28912067 28912067 + Missense_Mutation SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr16:28912067G>A ENST00000395503.4 + 15 2114 c.1930G>A c.(1930-1932)Gag>Aag p.E644K ATP2A1_ENST00000357084.3_Missense_Mutation_p.E644K|ATP2A1_ENST00000536376.1_Missense_Mutation_p.E519K NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 644 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 CATCTTTGGGGAGAACGAGGA 0.642000 15 64 0 0 0.003163 0 0 DNHD1 144132 broad.mit.edu 37 11 6588430 6588430 + Missense_Mutation SNP T T G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr11:6588430T>G ENST00000254579.6 + 36 12255 c.11691T>G c.(11689-11691)atT>atG p.I3897M DNHD1_ENST00000527990.2_Missense_Mutation_p.I3897M NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 3897 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CACGTGAGATTAATCACGGGG 0.572000 35 89 0 0 0.002836 0 0 PLA2G6 8398 broad.mit.edu 37 22 38508233 38508233 + Missense_Mutation SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr22:38508233C>T ENST00000332509.3 - 17 2539 c.2356G>A c.(2356-2358)Gag>Aag p.E786K PLA2G6_ENST00000335539.3_Missense_Mutation_p.E732K|PLA2G6_ENST00000402064.1_Missense_Mutation_p.E732K NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 786 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) ATGTAGACCTCGGTCTCCCAG 0.622000 4 14 0 0 0.000248 0 0 MYO6 4646 broad.mit.edu 37 6 76591501 76591501 + Silent SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr6:76591501G>A ENST00000369981.3 + 23 2661 c.2382G>A c.(2380-2382)aaG>aaA p.K794K MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369985.4_Silent_p.K794K|MYO6_ENST00000369977.3_Silent_p.K794K|MYO6_ENST00000369975.1_Silent_p.K794K Q9UM54 MYO6_HUMAN myosin VI 794 Required for binding calmodulin (By similarity). actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GTCGCTGGAAGAAAGTTCAGT 0.418000 23 77 0 0 0.003954 0 0 F13B 2165 broad.mit.edu 37 1 197030149 197030149 + Missense_Mutation SNP A A T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr1:197030149A>T ENST00000367412.1 - 4 551 c.508T>A c.(508-510)Ttc>Atc p.F170I NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 170 Sushi 3. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TTCACTTTGAATGTTTTCTGT 0.323000 13 61 0 0 0.001368 0 0 CPT1B 1375 broad.mit.edu 37 22 51010715 51010715 + Missense_Mutation SNP G G C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr22:51010715G>C ENST00000360719.2 - 12 1512 c.1375C>G c.(1375-1377)Ctc>Gtc p.L459V CPT1B_ENST00000312108.7_Missense_Mutation_p.L459V|CPT1B_ENST00000440709.1_Missense_Mutation_p.L378V|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000405237.3_Missense_Mutation_p.L459V|CPT1B_ENST00000434492.2_Missense_Mutation_p.L256V|CPT1B_ENST00000457250.1_Missense_Mutation_p.L425V|CPT1B_ENST00000395650.2_Missense_Mutation_p.L459V NM_001145135.1|NM_152245.2 NP_001138607.1|NP_689451.1 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B (muscle) 459 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) AAGGAAATGAGAGTGAAGGAT 0.512000 8 39 0 0 0.003080 0 0 MYH13 8735 broad.mit.edu 37 17 10248895 10248895 + Silent SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr17:10248895G>A ENST00000418404.3 - 13 1465 c.1302C>T c.(1300-1302)taC>taT p.Y434Y MYH13_ENST00000252172.4_Silent_p.Y434Y|MYH13_ENST00000570743.1_Silent_p.Y434Y Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 434 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 ACATCTTCTCGTAGACGGCTT 0.517000 36 125 0 0 0.003755 0 0 AFM 173 broad.mit.edu 37 4 74350097 74350097 + Missense_Mutation SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr4:74350097C>T ENST00000226355.3 + 3 353 c.260C>T c.(259-261)tCa>tTa p.S87L NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 87 Albumin 1. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CCAGAGTGTTCAAAATTACCT 0.343000 12 32 0 0 0.001368 0 0 ATG2A 23130 broad.mit.edu 37 11 64679357 64679357 + Silent SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr11:64679357G>A ENST00000421419.2 - 9 1299 c.1185C>T c.(1183-1185)agC>agT p.S395S ATG2A_ENST00000377264.3_Silent_p.S395S Q2TAZ0 ATG2A_HUMAN autophagy related 2A 395 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 AGGCCATGTCGCTGCGCACAG 0.637000 5 24 0 0 0.000602 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr3:178936082G>A ENST00000263967.3 + 10 1781 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 542 PI3K helical. E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(545)|p.E542Q(10) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333000 E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 11 43 0 0 0.001855 0 0 OR51Q1 390061 broad.mit.edu 37 11 5444060 5444060 + Silent SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr11:5444060C>T ENST00000300778.4 + 1 720 c.630C>T c.(628-630)atC>atT p.I210I AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCATTATTATCGTGGATCCTC 0.502000 39 119 0 0 0.006230 0 0 ENTPD4 9583 broad.mit.edu 37 8 23306270 23306270 + Missense_Mutation SNP T T C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr8:23306270T>C ENST00000358689.4 - 3 426 c.191A>G c.(190-192)gAc>gGc p.D64G ENTPD4_ENST00000356206.6_Missense_Mutation_p.D64G|ENTPD4_ENST00000417069.2_Missense_Mutation_p.D64G NM_001128930.2|NM_004901.4 NP_001122402.1|NP_004892.1 Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 64 UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 25 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) AAATTTCTTGTCTCTGGTTAG 0.378000 17 58 0 0 0.004007 0 0 KHSRP 8570 broad.mit.edu 37 19 6422368 6422368 + Missense_Mutation SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr19:6422368C>T ENST00000398148.3 - 2 421 c.329G>A c.(328-330)aGa>aAa p.R110K NM_003685.2 NP_003676.2 Q92945 FUBP2_HUMAN KH-type splicing regulatory protein 110 Gly-rich. mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent cytosol|nucleus DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1) 17 TTCCAACTGTCTCTTTTGGCC 0.493000 19 96 0 0 0.008871 0 0 F9 2158 broad.mit.edu 37 X 138612944 138612944 + Missense_Mutation SNP C C G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chrX:138612944C>G ENST00000218099.2 + 1 28 c.21C>G c.(19-21)atC>atG p.I7M F9_ENST00000394090.2_Missense_Mutation_p.I7M|F9_ENST00000479617.1_3'UTR NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 7 I -> F. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) TGAACATGATCATGGCAGAAT 0.413000 13 144 0 0 0.002450 0 0 GRIK1 2897 broad.mit.edu 37 21 31311810 31311810 + Silent SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr21:31311810G>A ENST00000399914.1 - 1 530 c.9C>T c.(7-9)caC>caT p.H3H GRIK1_ENST00000389124.2_Silent_p.H3H|GRIK1_ENST00000399913.1_Silent_p.H3H|GRIK1_ENST00000309434.7_Silent_p.H3H|GRIK1_ENST00000327783.4_Silent_p.H3H|GRIK1_ENST00000535441.1_Silent_p.H3H|GRIK1_ENST00000389125.3_Silent_p.H3H|GRIK1_ENST00000399907.1_Silent_p.H3H|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Silent_p.H3H P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 3 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) GGAGTGTGCCGTGCTCCATCT 0.622000 4 10 0 0 0.000248 0 0 C1orf173 127254 broad.mit.edu 37 1 75038225 75038225 + Missense_Mutation SNP C C A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr1:75038225C>A ENST00000326665.5 - 14 3387 c.3169G>T c.(3169-3171)Gca>Tca p.A1057S C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1057 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CGCTCTCTTGCTAAATCTAAT 0.443000 51 131 2.0833e-19 3.77089e-19 0.003610 1 0 DHRS7 51635 broad.mit.edu 37 14 60616104 60616104 + Silent SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr14:60616104C>T ENST00000216500.5 - 7 1394 c.939G>A c.(937-939)ggG>ggA p.G313G DHRS7_ENST00000536410.2_Silent_p.G263G|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Silent_p.G313G|PCNXL4_ENST00000406949.1_Intron Q9Y394 DHRS7_HUMAN dehydrogenase/reductase (SDR family) member 7 313 binding|oxidoreductase activity endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(108;0.121) TCCTTTTCTTCCCCATCTTGT 0.383000 15 56 0 0 0.003163 0 0 CREB3L3 84699 broad.mit.edu 37 19 4164536 4164536 + Missense_Mutation SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr19:4164536C>T ENST00000078445.2 + 5 760 c.613C>T c.(613-615)Cct>Tct p.P205S CREB3L3_ENST00000252587.3_Missense_Mutation_p.P145S|CREB3L3_ENST00000595923.1_Missense_Mutation_p.P204S|CREB3L3_ENST00000602147.1_Missense_Mutation_p.P205S|CREB3L3_ENST00000602257.1_Missense_Mutation_p.P203S NM_001271995.1|NM_001271996.1|NM_032607.1 NP_001258924.1|NP_001258925.1|NP_115996.1 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 3 205 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCCTGCGACCTGGGGCTGG 0.582000 19 94 0 0 0.001523 0 0 USP29 57663 broad.mit.edu 37 19 57640945 57640945 + Missense_Mutation SNP A A C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr19:57640945A>C ENST00000254181.4 + 4 1356 c.902A>C c.(901-903)cAa>cCa p.Q301P USP29_ENST00000598197.1_Missense_Mutation_p.Q301P NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 301 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GCAGTTTTACAATCGCTATTT 0.448000 7 58 0 0 0.001984 0 0 NAP1L2 4674 broad.mit.edu 37 X 72433920 72433920 + Missense_Mutation SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chrX:72433920C>T ENST00000373517.3 - 1 764 c.409G>A c.(409-411)Gaa>Aaa p.E137K NAP1L2_ENST00000536638.1_5'UTR NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 137 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) AACTTTCTTTCAATGTCATGA 0.373000 29 99 0 0 0.006320 0 0 C17orf53 78995 broad.mit.edu 37 17 42226342 42226342 + Missense_Mutation SNP A A C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr17:42226342A>C ENST00000319977.4 + 3 1408 c.1171A>C c.(1171-1173)Acc>Ccc p.T391P C17orf53_ENST00000245382.6_Missense_Mutation_p.T391P|C17orf53_ENST00000585683.1_Missense_Mutation_p.T391P NM_001171251.1|NM_024032.3 NP_001164722.1|NP_076937.2 Q8N3J3 CQ053_HUMAN chromosome 17 open reading frame 53 391 NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) CCATCCCTCCACCCGAGCCAA 0.622000 9 83 0 0 0.006122 0 0 DNTTIP1 116092 broad.mit.edu 37 20 44422617 44422617 + Silent SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr20:44422617C>T ENST00000372622.3 + 3 302 c.234C>T c.(232-234)atC>atT p.I78I NM_052951.2 NP_443183.1 Q9H147 TDIF1_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 1 78 nucleus breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 Myeloproliferative disorder(115;0.0122) AGCCCAGCATCAACGAGGAGA 0.522000 19 65 0 0 0.003330 0 0 CD82 3732 broad.mit.edu 37 11 44640601 44640601 + Silent SNP C C A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr11:44640601C>A ENST00000227155.4 + 10 977 c.729C>A c.(727-729)ctC>ctA p.L243L CD82_ENST00000342935.3_Silent_p.L218L|CD82_ENST00000530931.1_3'UTR NM_002231.3 NP_002222.1 P27701 CD82_HUMAN CD82 molecule 243 integral to plasma membrane protein binding large_intestine(1)|ovary(1) 2 CCCCACAGCTCCTGGGGATGG 0.607000 14 57 6.94344e-10 1.21604e-09 0.006122 1 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240729 39240729 + Missense_Mutation SNP A A G rs148949542 by1000genomes TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr17:39240729A>G ENST00000391417.4 + 1 271 c.271A>G c.(271-273)Atg>Gtg p.M91V NM_033061.3 NP_149050.3 keratin associated protein 4-7 NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 cagctgctgtatgtccagctg 0.677000 3 60 0 0 0.001168 0 0 PNMA5 114824 broad.mit.edu 37 X 152159807 152159807 + Silent SNP A A G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chrX:152159807A>G ENST00000439251.1 - 2 774 c.336T>C c.(334-336)gaT>gaC p.D112D PNMA5_ENST00000452693.1_Silent_p.D112D|PNMA5_ENST00000361887.5_Silent_p.D112D|PNMA5_ENST00000535214.1_Silent_p.D112D NM_001103150.1 NP_001096620.1 Q96PV4 PNMA5_HUMAN paraneoplastic Ma antigen family member 5 112 apoptosis breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) ttcggccctcatctttcagga 0.547000 46 241 0 0 0.003610 0 0 HIST1H2BG 8339 broad.mit.edu 37 6 26216707 26216707 + Missense_Mutation SNP G G C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr6:26216707G>C ENST00000244601.3 - 1 165 c.165C>G c.(163-165)atC>atG p.I55M NM_003518.3 NP_003509.1 P62807 H2B1C_HUMAN histone cluster 1, H2bg 55 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 8 all_hematologic(11;0.196) CCTTGGATGAGATGCCAGTAT 0.537000 39 206 0 0 0.004878 0 0 MYO9B 4650 broad.mit.edu 37 19 17270248 17270248 + Missense_Mutation SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr19:17270248C>T ENST00000595618.1 + 8 1525 c.1373C>T c.(1372-1374)aCg>aTg p.T458M CTD-3032J10.2_ENST00000599360.1_RNA|CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000594824.1_Missense_Mutation_p.T458M|MYO9B_ENST00000397274.2_Missense_Mutation_p.T458M NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 458 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity p.T458M(2) breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 AAAAGAAAAACGGTGACCGTC 0.522000 6 13 0 0 0.001984 0 0 LRRC7 57554 broad.mit.edu 37 1 70144160 70144160 + Splice_Site SNP G G C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr1:70144160G>C ENST00000370958.1 + 2 289 c.100_splice c.e2+1 p.E33_splice LRRC7_ENST00000310961.5_5'UTR Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 0 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CTGAAGAGGAGTGTAAGTATG 0.408000 5 12 0 0 0.000602 0 0 TMEM138 51524 broad.mit.edu 37 11 61133693 61133693 + Missense_Mutation SNP G G C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr11:61133693G>C ENST00000542946.1 + 3 504 c.305G>C c.(304-306)aGa>aCa p.R102T TMEM138_ENST00000381787.2_Intron|TMEM138_ENST00000540194.1_Intron|TMEM138_ENST00000278826.6_Intron Q9NPI0 TM138_HUMAN transmembrane protein 138 0 integral to membrane central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 GTCATGGTAAGAGTGGCAGTC 0.438000 28 91 0 0 0.005443 0 0 CHD8 57680 broad.mit.edu 37 14 21881157 21881157 + Splice_Site SNP T T C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr14:21881157T>C ENST00000399982.2 - 9 2207 c.e9-2 CHD8_ENST00000557364.1_Splice_Site|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Splice_Site NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CTCTTCATCCTAGATGAGTTA 0.423000 6 20 0 0 0.001168 0 0 FYCO1 79443 broad.mit.edu 37 3 46008282 46008282 + Silent SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr3:46008282G>A ENST00000296137.2 - 8 2749 c.2544C>T c.(2542-2544)tgC>tgT p.C848C FYCO1_ENST00000535325.1_Silent_p.C848C NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 848 transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) CACGCTCCGAGCATTGCAGCA 0.627000 11 24 0 0 0.000978 0 0 C9orf3 84909 broad.mit.edu 37 9 97522832 97522832 + Missense_Mutation SNP C C T rs145414026 TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr9:97522832C>T ENST00000375315.2 + 1 767 c.767C>T c.(766-768)tCg>tTg p.S256L C9orf3_ENST00000297979.5_Missense_Mutation_p.S256L|C9orf3_ENST00000277198.2_Missense_Mutation_p.S256L NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 256 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) GAAGGGCGATCGGTTACATGG 0.488000 5 18 0 0 0.001168 0 0 KRT74 121391 broad.mit.edu 37 12 52965209 52965209 + Silent SNP C C A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr12:52965209C>A ENST00000549343.1 - 4 815 c.777G>T c.(775-777)gtG>gtT p.V259V KRT74_ENST00000305620.2_Silent_p.V259V Q7RTS7 K2C74_HUMAN keratin 74 259 Coil 1B.|Rod. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) CCTGAAGCTCCACCTTGACTG 0.567000 16 54 1.99824e-07 3.46218e-07 0.004990 1 0 KCNN2 3781 broad.mit.edu 37 5 113831673 113831673 + Missense_Mutation SNP A A G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr5:113831673A>G ENST00000512097.3 + 9 2552 c.1534A>G c.(1534-1536)Aca>Gca p.T512A KCNN2_ENST00000264773.3_Missense_Mutation_p.T512A|KCNN2_ENST00000503706.1_Missense_Mutation_p.T164A|RP11-492A10.1_ENST00000514115.1_RNA Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 512 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) TACCCTGGAAACAAAACTAGA 0.448000 20 116 0 0 0.001882 0 0 CEP95 90799 broad.mit.edu 37 17 62533807 62533807 + Silent SNP T T C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr17:62533807T>C ENST00000556440.2 + 20 2886 c.2376T>C c.(2374-2376)gaT>gaC p.D792D CEP95_ENST00000553412.1_Silent_p.D628D NM_138363.1 NP_612372.1 Q96GE4 CEP95_HUMAN centrosomal protein 95kDa 792 centrosome|spindle pole protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1) 13 AGAATGATGATGATGTTTTCT 0.458000 6 27 0 0 0.001168 0 0 TMCO1 54499 broad.mit.edu 37 1 165712477 165712477 + Missense_Mutation SNP T T C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr1:165712477T>C ENST00000367881.5 - 6 823 c.548A>G c.(547-549)aAt>aGt p.N183S TMCO1_ENST00000464650.1_Missense_Mutation_p.N48S|TMCO1_ENST00000392129.6_Missense_Mutation_p.N132S|TMCO1_ENST00000580248.1_Missense_Mutation_p.N48S Q9UM00 TMCO1_HUMAN transmembrane and coiled-coil domains 1 132 Poly-Pro. endoplasmic reticulum membrane|Golgi membrane|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) TCCCAGCAGATTTCGATGAGA 0.378000 14 43 0 0 0.004007 0 0 ZNF432 9668 broad.mit.edu 37 19 52537191 52537191 + Nonsense_Mutation SNP C C A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr19:52537191C>A ENST00000594154.1 - 5 1953 c.1741G>T c.(1741-1743)Gaa>Taa p.E581* ZNF432_ENST00000221315.5_Nonsense_Mutation_p.E581* O94892 ZN432_HUMAN zinc finger protein 432 581 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) AGCTCTGTTTCCTTGGCAAAG 0.378000 28 63 9.39395e-14 1.69091e-13 0.006320 1 0 PCNXL3 399909 broad.mit.edu 37 11 65397860 65397860 + Missense_Mutation SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr11:65397860G>A ENST00000355703.3 + 27 4794 c.4255G>A c.(4255-4257)Gag>Aag p.E1419K NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 1419 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 GGCTATCACCGAGGGTGTGGA 0.637000 24 67 0 0 0.003330 0 0 CHUK 1147 broad.mit.edu 37 10 101953836 101953836 + Missense_Mutation SNP C C A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr10:101953836C>A ENST00000370397.7 - 18 1965 c.1879G>T c.(1879-1881)Gtg>Ttg p.V627L CHUK_ENST00000590930.1_5'UTR NM_001278.3 NP_001269.3 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase 627 I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 27 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) CTGAGGGCCACTTCCACCTTA 0.423000 13 52 0.00010058 0.000170617 0.001368 1 0 ABHD15 116236 broad.mit.edu 37 17 27889938 27889938 + Missense_Mutation SNP C C A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr17:27889938C>A ENST00000307201.4 - 2 1218 c.1048G>T c.(1048-1050)Gtg>Ttg p.V350L RP11-68I3.2_ENST00000581474.1_RNA NM_198147.2 NP_937790.2 Q6UXT9 ABH15_HUMAN abhydrolase domain containing 15 350 extracellular region carboxylesterase activity breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 10 AGCACAGGCACGGCTGCCTCA 0.582000 7 47 0.000673444 0.00113055 0.008291 1 0 KIAA2026 158358 broad.mit.edu 37 9 5922609 5922609 + Silent SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr9:5922609C>T ENST00000399933.3 - 8 3386 c.3387G>A c.(3385-3387)caG>caA p.Q1129Q KIAA2026_ENST00000381461.2_Silent_p.Q1099Q NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 1129 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) CTGTACCTTTCTGTTGAAGTG 0.368000 4 83 0 0 0.000248 0 0 SNHG14 104472715 broad.mit.edu 37 15 25457050 25457050 + RNA SNP G G T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr15:25457050G>T ENST00000424208.1 + 0 2516 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 TTTGGAGGAGGATGCTGGGAT 0.507000 58 142 8.4772e-36 1.57851e-35 0.003610 1 0 ZSCAN1 284312 broad.mit.edu 37 19 58565265 58565265 + Missense_Mutation SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr19:58565265G>A ENST00000282326.1 + 6 1320 c.1073G>A c.(1072-1074)cGg>cAg p.R358Q NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 358 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) AAGGGCCCCCGGGAGTCCGTC 0.662000 10 37 0 0 0.000978 0 0 CELSR3 1951 broad.mit.edu 37 3 48697921 48697921 + Missense_Mutation SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr3:48697921C>T ENST00000544264.1 - 1 2427 c.2147G>A c.(2146-2148)cGt>cAt p.R716H CELSR3_ENST00000164024.4_Missense_Mutation_p.R716H Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 716 Cadherin 4. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CACAGACTCACGGTCCAGGGG 0.557000 12 26 0 0 0.000978 0 0 FER1L6 654463 broad.mit.edu 37 8 125094566 125094566 + Silent SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr8:125094566C>T ENST00000522917.1 + 33 4464 c.4258C>T c.(4258-4260)Ctg>Ttg p.L1420L FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.L1420L NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1420 C2 5. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AAAAGAGTCCCTGCTCTCCAT 0.488000 43 149 0 0 0.008740 0 0 WDR17 116966 broad.mit.edu 37 4 177071078 177071078 + Missense_Mutation SNP G G C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr4:177071078G>C ENST00000393643.2 + 14 2270 c.2018G>C c.(2017-2019)aGa>aCa p.R673T WDR17_ENST00000280190.4_Missense_Mutation_p.R697T|WDR17_ENST00000508596.1_Missense_Mutation_p.R673T|WDR17_ENST00000507824.2_Missense_Mutation_p.R680T NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 697 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) CTGGCAGACAGATCTTGGGAA 0.383000 3 83 0 0 0.004672 0 0 UAP1 6675 broad.mit.edu 37 1 162536139 162536139 + Splice_Site SNP G G T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr1:162536139G>T ENST00000271469.3 + 2 582 c.e2+1 UAP1_ENST00000367924.1_Splice_Site|UAP1_ENST00000367925.1_Splice_Site|UAP1_ENST00000367926.4_Splice_Site Q16222 UAP1_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1) 22 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) GAAAGTGAAGGTACTGGGCAT 0.408000 12 31 2.68362e-12 4.80383e-12 0.001368 1 0 CWF19L2 143884 broad.mit.edu 37 11 107197637 107197637 + Silent SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr11:107197637C>T ENST00000282251.5 - 18 2711 c.2684G>A c.(2683-2685)tGa>tAa p.*895* NM_152434.2 NP_689647.2 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control (S. pombe) 0 catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) AGGTACACCTCAATAGTTTTT 0.408000 11 42 0 0 0.000978 0 0 PI4KAP2 375133 broad.mit.edu 37 22 21828938 21828938 + RNA SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr22:21828938C>T ENST00000450651.1 - 0 1870 endometrium(3)|urinary_tract(1) 4 TTTGCAGCCTCGCGCTCAGTC 0.637000 6 16 0 0 0.004482 0 0 SLC8A1 6546 broad.mit.edu 37 2 40366549 40366549 + Nonsense_Mutation SNP G G C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr2:40366549G>C ENST00000406785.1 - 7 2618 c.2429C>G c.(2428-2430)tCa>tGa p.S810* SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000332839.4_Nonsense_Mutation_p.S846*|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000406391.2_Nonsense_Mutation_p.S810*|SLC8A1_ENST00000408028.2_Nonsense_Mutation_p.S838*|SLC8A1_ENST00000405901.3_Nonsense_Mutation_p.S841*|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000542024.1_Nonsense_Mutation_p.S810*|SLC8A1_ENST00000402441.1_Nonsense_Mutation_p.S810*|SLC8A1_ENST00000403092.1_Nonsense_Mutation_p.S846*|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000405269.1_Nonsense_Mutation_p.S810*|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000542756.1_Nonsense_Mutation_p.S841*|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 846 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) ACCTGGCACTGATGTTCCAAG 0.453000 10 20 0 0 0.000978 0 0 MIB1 57534 broad.mit.edu 37 18 19429197 19429197 + Missense_Mutation SNP G G C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr18:19429197G>C ENST00000261537.6 + 17 2698 c.2434G>C c.(2434-2436)Gat>Cat p.D812H MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 812 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding p.D812Y(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) GATTAGTAATGATTCTGAAAC 0.348000 47 198 0 0 0.003610 0 0 NFATC2 4773 broad.mit.edu 37 20 50007976 50007976 + Missense_Mutation SNP A A G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr20:50007976A>G ENST00000396009.3 - 10 2954 c.2735T>C c.(2734-2736)aTc>aCc p.I912T NFATC2_ENST00000414705.1_3'UTR|NFATC2_ENST00000371564.3_3'UTR NM_001258292.1|NM_001258295.1|NM_001258297.1|NM_173091.3 NP_001245221.1|NP_001245224.1|NP_001245226.1|NP_775114.1 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 912 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CTCCTTCCTGATAATTTCATT 0.483000 25 63 0 0 0.004656 0 0 CRLS1 54675 broad.mit.edu 37 20 5990553 5990553 + Missense_Mutation SNP G G C rs59962100 TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr20:5990553G>C ENST00000378863.4 + 2 596 c.439G>C c.(439-441)Gat>Cat p.D147H CRLS1_ENST00000452938.1_Missense_Mutation_p.D147H|CRLS1_ENST00000378868.3_Missense_Mutation_p.D48H NM_019095.4 NP_061968.1 Q9UJA2 CRLS1_HUMAN cardiolipin synthase 1 147 phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphotransferase activity, for other substituted phosphate groups lung(3)|ovary(1) 4 TGGACTAACAGATTTGGTAAG 0.413000 5 51 0 0 0.000602 0 0 LRRC37BP1 147172 broad.mit.edu 37 17 28958878 28958878 + RNA SNP C C G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr17:28958878C>G ENST00000412831.1 + 0 106 SMURF2P1_ENST00000578265.1_RNA GAGGCGCCCTCAGACAGCAGT 0.502000 77 272 0 0 0.003610 0 0 FNIP2 57600 broad.mit.edu 37 4 159753081 159753081 + Silent SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr4:159753081C>T ENST00000264433.6 + 4 525 c.450C>T c.(448-450)taC>taT p.Y150Y FNIP2_ENST00000379346.3_Silent_p.Y173Y NM_020840.1 NP_065891.1 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 150 DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) CCATGAGTTACAAAGGCTCCA 0.408000 5 15 0 0 0.000602 0 0 PLXNB2 23654 broad.mit.edu 37 22 50716549 50716549 + Silent SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr22:50716549G>A ENST00000449103.1 - 31 5024 c.4884C>T c.(4882-4884)gtC>gtT p.V1628V PLXNB2_ENST00000359337.4_Silent_p.V1628V O15031 PLXB2_HUMAN plexin B2 1628 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGCCCACCTTGACTGAGAGCA 0.687000 7 25 0 0 0.001984 0 0 IRF7 3665 broad.mit.edu 37 11 613301 613301 + Missense_Mutation SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr11:613301C>T ENST00000397566.1 - 7 1590 c.1181G>A c.(1180-1182)gGc>gAc p.G394D IRF7_ENST00000397574.2_Missense_Mutation_p.G381D|IRF7_ENST00000348655.6_Missense_Mutation_p.G352D|IRF7_ENST00000330243.5_Missense_Mutation_p.G394D|IRF7_ENST00000397562.3_Missense_Mutation_p.G88D|IRF7_ENST00000397570.1_Missense_Mutation_p.G352D|IRF7_ENST00000525445.1_Missense_Mutation_p.G275D NM_004031.2 NP_004022.2 Q92985 IRF7_HUMAN interferon regulatory factor 7 381 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGGGGGTCCGCCCACCTCCCA 0.672000 7 27 0 0 0.003080 0 0 ATP8A2 51761 broad.mit.edu 37 13 26104781 26104781 + Missense_Mutation SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr13:26104781G>A ENST00000381655.2 + 4 545 c.403G>A c.(403-405)Gag>Aag p.E135K ATP8A2_ENST00000255283.8_Missense_Mutation_p.E95K NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 95 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) AGGCATCAAAGAGATTGTAGA 0.353000 4 16 0 0 0.000248 0 0 ZNF710 374655 broad.mit.edu 37 15 90611533 90611533 + Silent SNP C C T rs144375764 TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr15:90611533C>T ENST00000268154.4 + 2 1415 c.1164C>T c.(1162-1164)ttC>ttT p.F388F NM_198526.2 NP_940928.2 Q8N1W2 ZN710_HUMAN zinc finger protein 710 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 19 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) GCCGCGGCTTCGCCTACCCCA 0.642000 13 46 0 0 0.004007 0 0 TRPM6 140803 broad.mit.edu 37 9 77377455 77377455 + Missense_Mutation SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr9:77377455C>T ENST00000451710.3 - 26 4369 c.4132G>A c.(4132-4134)Gac>Aac p.D1378N TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.D1378N|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.D1373N|TRPM6_ENST00000376864.4_Missense_Mutation_p.D1378N|TRPM6_ENST00000449912.2_Missense_Mutation_p.D1373N Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1378 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity p.D1378Y(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GTCTGGATGTCCTGTTCAGTT 0.512000 26 89 0 0 0.003954 0 0 DOCK5 80005 broad.mit.edu 37 8 25267635 25267635 + Missense_Mutation SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr8:25267635G>A ENST00000276440.7 + 51 5469 c.5425G>A c.(5425-5427)Gat>Aat p.D1809N NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1809 Pro-rich. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) GTTGCAGACAGATGGAATCGC 0.552000 9 17 0 0 0.008291 0 0 DRAM2 128338 broad.mit.edu 37 1 111660792 111660792 + Missense_Mutation SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr1:111660792C>T ENST00000286692.4 - 9 1408 c.791G>A c.(790-792)aGa>aAa p.R264K DRAM2_ENST00000539140.1_Missense_Mutation_p.R264K|DRAM2_ENST00000484310.1_5'UTR Q6UX65 DRAM2_HUMAN DNA-damage regulated autophagy modulator 2 264 apoptosis|induction of apoptosis Golgi apparatus|integral to membrane|lysosomal membrane endometrium(1)|large_intestine(5)|lung(3) 9 TCAAATATCTCTGGAAAGTAG 0.368000 10 53 0 0 0.008291 0 0 PCED1A 64773 broad.mit.edu 37 20 2819570 2819570 + Silent SNP A A C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr20:2819570A>C ENST00000360652.2 - 4 865 c.363T>G c.(361-363)ctT>ctG p.L121L PCED1A_ENST00000356872.3_Silent_p.L70L NM_022760.3 NP_073597.2 PC-esterase domain containing 1A GAACATCCTCAAGGTACTCGG 0.577000 5 94 0 0 0.001168 0 0 TBX20 57057 broad.mit.edu 37 7 35244106 35244106 + Missense_Mutation SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr7:35244106C>T ENST00000408931.3 - 7 1505 c.979G>A c.(979-981)Gag>Aag p.E327K NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 327 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 GTCTGACTCTCATCCCCCAAG 0.512000 10 36 0 0 0.006214 0 0 SUV420H1 51111 broad.mit.edu 37 11 67925548 67925548 + Silent SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr11:67925548G>A ENST00000304363.4 - 11 2618 c.2265C>T c.(2263-2265)aaC>aaT p.N755N NM_017635.3 NP_060105.3 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 755 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 CATAGAGATTGTTATCGTTGT 0.368000 58 152 0 0 0.003610 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501700 140501700 + Silent SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr5:140501700C>T ENST00000194152.1 + 1 120 c.120C>T c.(118-120)agC>agT p.S40S NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 40 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAACAGAGAGCGGCTCCTTTG 0.537000 11 57 0 0 0.001368 0 0 SPATA9 83890 broad.mit.edu 37 5 94994576 94994576 + Missense_Mutation SNP G G C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr5:94994576G>C ENST00000274432.8 - 5 657 c.516C>G c.(514-516)atC>atG p.I172M SPATA9_ENST00000477047.2_5'UTR|RFESD_ENST00000508206.1_Intron NM_031952.3 NP_114158.2 Q9BWV2 SPAT9_HUMAN spermatogenesis associated 9 172 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane large_intestine(3)|lung(4) 7 all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.91e-16) CTTCCTGGAAGATGTTCTTTA 0.383000 12 53 0 0 0.001368 0 0 CSPP1 79848 broad.mit.edu 37 8 68028171 68028171 + Missense_Mutation SNP G G T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr8:68028171G>T ENST00000262210.5 + 11 1326 c.1295G>T c.(1294-1296)aGt>aTt p.S432I CSPP1_ENST00000412460.1_Missense_Mutation_p.S138I NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 467 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AAGCAGTTTAGTGTGGCACCA 0.413000 14 81 4.3838e-07 7.55506e-07 0.001855 1 0 SNHG14 104472715 broad.mit.edu 37 15 25325330 25325330 + RNA SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr15:25325330G>A ENST00000549804.2 + 0 1377 SNORD116-14_ENST00000383894.1_RNA TTGGAAAGCTGAACAAAATGA 0.438000 26 137 0 0 0.004656 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960449 73960449 + Nonsense_Mutation SNP C C A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chrX:73960449C>A ENST00000373468.1 - 3 4594 c.3943G>T c.(3943-3945)Gag>Tag p.E1315* KIAA2022_ENST00000055682.5_Nonsense_Mutation_p.E1315* Q5QGS0 K2022_HUMAN KIAA2022 1315 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TAGGAAGGCTCCTGAAATTCC 0.532000 37 110 6.99958e-10 1.21928e-09 0.006999 1 0 GRID1 2894 broad.mit.edu 37 10 87898641 87898641 + Missense_Mutation SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr10:87898641G>A ENST00000327946.7 - 4 746 c.661C>T c.(661-663)Cgg>Tgg p.R221W NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 221 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) AGCGTGTCCCGGTAGCGATTC 0.592000 Multiple Myeloma(13;0.14) 41 133 0 0 0.002222 0 0 BRINP1 1620 broad.mit.edu 37 9 121929788 121929788 + Silent SNP A A T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr9:121929788A>T ENST00000265922.3 - 8 2321 c.1860T>A c.(1858-1860)cgT>cgA p.R620R DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 620 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GAGTCCGACTACGTAGGTAGA 0.537000 33 107 0 0 0.002445 0 0 KCNK18 338567 broad.mit.edu 37 10 118969311 118969311 + Nonsense_Mutation SNP C C G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr10:118969311C>G ENST00000334549.1 + 3 656 c.656C>G c.(655-657)tCa>tGa p.S219* NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 219 integral to membrane|plasma membrane p.S219L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) ACATGTCCTTCACGCCCAAGC 0.532000 14 51 0 0 0.003163 0 0 NTRK3 4916 broad.mit.edu 37 15 88799155 88799155 + Nonsense_Mutation SNP G G C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr15:88799155G>C ENST00000394480.1 - 3 551 c.230C>G c.(229-231)tCa>tGa p.S77* NTRK3_ENST00000558676.1_Nonsense_Mutation_p.S77*|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000557856.1_Nonsense_Mutation_p.S77*|NTRK3_ENST00000355254.2_Nonsense_Mutation_p.S77*|NTRK3_ENST00000540489.2_Nonsense_Mutation_p.S77*|NTRK3_ENST00000360948.2_Nonsense_Mutation_p.S77*|NTRK3_ENST00000317501.3_Nonsense_Mutation_p.S77*|NTRK3_ENST00000357724.2_Nonsense_Mutation_p.S77* NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 77 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) GATATTCCTTGAGATGTCCGT 0.647000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 19 60 0 0 0.008871 0 0 AGAP11 119385 broad.mit.edu 37 10 88768495 88768495 + RNA SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr10:88768495G>A ENST00000444431.1 + 0 3095 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding GTGATTATATGAAGAATATTC 0.443000 55 197 0 0 0.003610 0 0 MIR656 724026 broad.mit.edu 37 14 101533123 101533123 + RNA SNP T T C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr14:101533123T>C ENST00000385224.1 + 0 63 NR_030392.1 AGTCAACCTCTTTCCGATATC 0.502000 25 72 0 0 0.002780 0 0 INPP4A 3631 broad.mit.edu 37 2 99154409 99154409 + Missense_Mutation SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr2:99154409C>T ENST00000074304.5 + 8 944 c.551C>T c.(550-552)aCc>aTc p.T184I INPP4A_ENST00000409851.3_Missense_Mutation_p.T184I|INPP4A_ENST00000409540.3_Missense_Mutation_p.T184I|INPP4A_ENST00000409016.3_Missense_Mutation_p.T184I|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000545415.1_Missense_Mutation_p.T184I|INPP4A_ENST00000523221.1_Missense_Mutation_p.T184I NM_001134224.1 NP_001127696.1 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type I, 107kDa 184 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 CCCCCTGTGACCCGGTCTGTG 0.522000 5 16 0 0 0.000602 0 0 BRWD3 254065 broad.mit.edu 37 X 79946660 79946660 + Missense_Mutation SNP G G C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chrX:79946660G>C ENST00000373275.4 - 31 3710 c.3494C>G c.(3493-3495)cCt>cGt p.P1165R BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1165 Bromo 1. breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 AACAGCAAAAGGGCTGGCAAA 0.373000 14 30 0 0 0.002450 0 0 SH3TC2 79628 broad.mit.edu 37 5 148386619 148386619 + Missense_Mutation SNP A A G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr5:148386619A>G ENST00000515425.1 - 16 3601 c.3500T>C c.(3499-3501)gTg>gCg p.V1167A SH3TC2_ENST00000512049.1_Missense_Mutation_p.V1160A|SH3TC2_ENST00000538184.1_Silent_p.G711G|SH3TC2_ENST00000502274.1_Missense_Mutation_p.V29A NM_024577.3 NP_078853.2 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 1167 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGAAAGGCCACCAGCTCTTG 0.488000 18 80 0 0 0.006122 0 0 LGSN 51557 broad.mit.edu 37 6 63989944 63989944 + Silent SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr6:63989944G>A ENST00000370657.4 - 4 1545 c.1512C>T c.(1510-1512)ttC>ttT p.F504F LGSN_ENST00000370658.5_3'UTR Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 504 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) AATACTCTAAGAATTTATTTC 0.328000 9 55 0 0 0.006214 0 0 EXTL1 2134 broad.mit.edu 37 1 26349593 26349593 + Silent SNP A A G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr1:26349593A>G ENST00000374280.3 + 1 1323 c.456A>G c.(454-456)caA>caG p.Q152Q NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 152 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) TGCCTCTGCAATGGAACAGGG 0.647000 13 53 0 0 0.001368 0 0 PDZD8 118987 broad.mit.edu 37 10 119043299 119043299 + Missense_Mutation SNP G G A rs148717941 TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr10:119043299G>A ENST00000334464.5 - 5 3184 c.2945C>T c.(2944-2946)aCg>aTg p.T982M NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 982 intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) ACAGACCTCCGTGTCACTGCC 0.478000 79 257 0 0 0.003610 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55281317 55281317 + Silent SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr19:55281317C>T ENST00000336077.6 + 1 55 c.15C>T c.(13-15)gtC>gtT p.V5V KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000291633.7_Silent_p.V5V|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 5 V -> F (in dbSNP:rs2304224). immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CGCTCTTGGTCGTCAGCATGG 0.602000 OREG0003674 type=REGULATORY REGION|Gene=KIR2DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 32 37 0 0 0.002836 0 0 NBPF1 55672 broad.mit.edu 37 1 16907926 16907926 + Silent SNP T T A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr1:16907926T>A ENST00000430580.2 - 15 2255 c.1368A>T c.(1366-1368)tcA>tcT p.S456S NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 456 NBPF 2. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TGGGGGCAGATGATTCCAGTA 0.433000 40 881 0 0 0.005524 0 0 EPHB3 2049 broad.mit.edu 37 3 184294876 184294876 + Missense_Mutation SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr3:184294876G>A ENST00000330394.2 + 5 1711 c.1259G>A c.(1258-1260)cGc>cAc p.R420H EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 420 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GCCCACACGCGCTACACCTTT 0.627000 19 40 0 0 0.006122 0 0 DNAH11 8701 broad.mit.edu 37 7 21882167 21882167 + Missense_Mutation SNP T T A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr7:21882167T>A ENST00000328843.6 + 67 10749 c.10718T>A c.(10717-10719)aTc>aAc p.I3573N DNAH11_ENST00000409508.3_Missense_Mutation_p.I3566N Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3573 AAA 5 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTTAGGTATATCAGGATTGGA 0.388000 Kartagener syndrome 8 39 0 0 0.003080 0 0 TMEM41B 440026 broad.mit.edu 37 11 9321190 9321190 + Silent SNP A A G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr11:9321190A>G ENST00000528080.1 - 2 518 c.180T>C c.(178-180)atT>atC p.I60I TMEM41B_ENST00000527813.1_Silent_p.I60I|TMEM41B_ENST00000533723.1_Silent_p.I60I NM_015012.3 NP_055827.1 Q5BJD5 TM41B_HUMAN transmembrane protein 41B 60 integral to membrane kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2) 7 all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972) CAGATAAGAAAATGGACACCA 0.299000 11 42 0 0 0.008291 0 0 ADORA1 134 broad.mit.edu 37 1 203097989 203097989 + Missense_Mutation SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr1:203097989C>T ENST00000367236.4 + 2 941 c.20C>T c.(19-21)gCt>gTt p.A7V ADORA1_ENST00000309502.3_Missense_Mutation_p.A7V|ADORA1_ENST00000337894.4_Missense_Mutation_p.A7V|ADORA1_ENST00000367235.1_Missense_Mutation_p.A7V NM_001048230.1 NP_001041695.1 P30542 AA1R_HUMAN adenosine A1 receptor 7 induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) TCCATCTCAGCTTTCCAGGCC 0.657000 18 81 0 0 0.008871 0 0 SPESP1 246777 broad.mit.edu 37 15 69238803 69238803 + Silent SNP C C G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr15:69238803C>G ENST00000310673.3 + 2 1084 c.930C>G c.(928-930)ctC>ctG p.L310L NOX5_ENST00000448182.3_Intron|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron NM_145658.3 NP_663633.1 Q6UW49 SPESP_HUMAN sperm equatorial segment protein 1 310 multicellular organismal development acrosomal vesicle breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 19 GATCTAAACTCTATGAATATT 0.318000 15 42 0 0 0.004007 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70585257 70585257 + Silent SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr8:70585257G>A ENST00000260126.3 - 10 3100 c.2394C>T c.(2392-2394)ttC>ttT p.F798F SLCO5A1_ENST00000530307.1_Silent_p.F743F|SLCO5A1_ENST00000524945.1_3'UTR NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 798 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CCTGGGTGCTGAAAGCTGGGC 0.577000 26 120 0 0 0.006320 0 0 CLVS2 134829 broad.mit.edu 37 6 123319045 123319045 + Missense_Mutation SNP G G C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr6:123319045G>C ENST00000275162.4 + 2 1458 c.123G>C c.(121-123)agG>agC p.R41S CLVS2_ENST00000368438.1_Intron NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 41 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 TCATCACCAGGCCGGACATTG 0.567000 19 53 0 0 0.007413 0 0 OR5H6 79295 broad.mit.edu 37 3 97983471 97983471 + Missense_Mutation SNP G G C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr3:97983471G>C ENST00000383696.2 + 1 384 c.343G>C c.(343-345)Gta>Cta p.V115L RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TGAATGCATGGTACAATTTTT 0.388000 23 113 0 0 0.002780 0 0 SYNE2 23224 broad.mit.edu 37 14 64518705 64518705 + Missense_Mutation SNP A A G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr14:64518705A>G ENST00000358025.3 + 48 8304 c.8074A>G c.(8074-8076)Agg>Ggg p.R2692G SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.R2692G|SYNE2_ENST00000554584.1_Missense_Mutation_p.R2725G NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2692 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TCAGATGAAGAGGATTTGGGG 0.418000 15 87 0 0 0.002450 0 0 KCNK5 8645 broad.mit.edu 37 6 39158824 39158824 + Missense_Mutation SNP T T C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr6:39158824T>C ENST00000359534.3 - 5 1680 c.1342A>G c.(1342-1344)Agc>Ggc p.S448G NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 448 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 TGCTGGGGGCTCTCCTCCCCT 0.627000 4 12 0 0 0.000248 0 0 SEMA3A 10371 broad.mit.edu 37 7 83764187 83764187 + Missense_Mutation SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr7:83764187C>T ENST00000265362.3 - 2 507 c.193G>A c.(193-195)Gaa>Aaa p.E65K SEMA3A_ENST00000436949.1_Missense_Mutation_p.E65K NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 65 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 CTACTCCGTTCCTCATCCAAA 0.383000 17 40 0 0 0.004990 0 0 ROCK1 6093 broad.mit.edu 37 18 18622625 18622625 + Missense_Mutation SNP T T C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr18:18622625T>C ENST00000399799.1 - 7 1661 c.721A>G c.(721-723)Att>Gtt p.I241V NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 241 Protein kinase. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) TCAGGGGAAATATAATCAGGT 0.393000 10 32 0 0 0.001855 0 0 DNM3 26052 broad.mit.edu 37 1 172011156 172011156 + Nonsense_Mutation SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr1:172011156C>T ENST00000358155.4 + 8 1176 c.1000C>T c.(1000-1002)Cag>Tag p.Q334* DNM3_ENST00000520906.1_Nonsense_Mutation_p.Q334*|DNM3_ENST00000367731.1_Nonsense_Mutation_p.Q334*|DNM3_ENST00000367733.2_Nonsense_Mutation_p.Q334*|DNM3_ENST00000355305.5_Nonsense_Mutation_p.Q334* NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 334 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CAGGATGGTTCAGCAATTTGC 0.368000 23 87 0 0 0.005443 0 0 ASAH1 427 broad.mit.edu 37 8 17918918 17918918 + Missense_Mutation SNP G G C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr8:17918918G>C ENST00000262097.6 - 10 1064 c.753C>G c.(751-753)ttC>ttG p.F251L ASAH1_ENST00000520781.1_Missense_Mutation_p.F226L|ASAH1_ENST00000314146.10_Missense_Mutation_p.F245L|ASAH1_ENST00000381733.4_Missense_Mutation_p.F267L|ASAH1_ENST00000417108.2_Missense_Mutation_p.F161L NM_177924.3 NP_808592.2 Q13510 ASAH1_HUMAN N-acylsphingosine amidohydrolase (acid ceramidase) 1 251 ceramide metabolic process lysosome ceramidase activity breast(1)|endometrium(2)|large_intestine(4)|lung(2) 9 Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228) TTCTAGTGAGGAACCCTATCC 0.328000 12 48 0 0 0.004007 0 0 SLC25A43 203427 broad.mit.edu 37 X 118586008 118586008 + Missense_Mutation SNP G G C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chrX:118586008G>C ENST00000217909.7 + 4 1071 c.727G>C c.(727-729)Gat>Cat p.D243H SLC25A43_ENST00000336249.7_Missense_Mutation_p.R185T|SLC25A43_ENST00000488158.1_3'UTR NM_145305.2 NP_660348.2 Q8WUT9 S2543_HUMAN solute carrier family 25, member 43 243 transmembrane transport integral to membrane|mitochondrial inner membrane binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 9 TGGAGGAGTAGATGTCCATTT 0.512000 32 112 0 0 0.001786 0 0 C6orf118 168090 broad.mit.edu 37 6 165706919 165706919 + Missense_Mutation SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr6:165706919G>A ENST00000543069.1 - 6 1372 c.791C>T c.(790-792)tCt>tTt p.S264F C6orf118_ENST00000230301.8_Missense_Mutation_p.S368F Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 368 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) TTCCTTTGCAGACTGCAGCAA 0.453000 39 109 0 0 0.007835 0 0 GRIP1 23426 broad.mit.edu 37 12 66742846 66742846 + Missense_Mutation SNP T T C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr12:66742846T>C ENST00000359742.4 - 25 3580 c.3340A>G c.(3340-3342)Agc>Ggc p.S1114G GRIP1_ENST00000398016.3_Missense_Mutation_p.S1062G|GRIP1_ENST00000286445.7_Missense_Mutation_p.S1099G Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 1114 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CCACCGTGGCTAGGCTGCTGG 0.413000 4 259 0 0 0.000248 0 0 NUP155 9631 broad.mit.edu 37 5 37303483 37303483 + Nonsense_Mutation SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr5:37303483G>A ENST00000231498.3 - 28 3399 c.3196C>T c.(3196-3198)Cga>Tga p.R1066* NUP155_ENST00000381843.2_Nonsense_Mutation_p.R1007*|NUP155_ENST00000513532.1_Nonsense_Mutation_p.R1002*|NUP155_ENST00000502533.1_5'UTR NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 1066 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTGGCCATTCGGACTAGATGT 0.378000 13 37 0 0 0.001368 0 0 TMEM132E 124842 broad.mit.edu 37 17 32953441 32953441 + Silent SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr17:32953441G>A ENST00000321639.5 + 2 691 c.363G>A c.(361-363)acG>acA p.T121T NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 121 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) AGCGCCTGACGGTGAACTGGA 0.697000 6 25 0 0 0.001984 0 0 TP53BP2 7159 broad.mit.edu 37 1 223984132 223984132 + Silent SNP G G C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr1:223984132G>C ENST00000391878.2 - 14 2490 c.1722C>G c.(1720-1722)ctC>ctG p.L574L TP53BP2_ENST00000343537.7_Silent_p.L703L|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_5'UTR NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 697 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) TAGTTGGGCTGAGTGGCCGAG 0.468000 45 122 0 0 0.003214 0 0 ABCA4 24 broad.mit.edu 37 1 94526180 94526180 + Silent SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr1:94526180G>A ENST00000370225.3 - 14 2159 c.2073C>T c.(2071-2073)gtC>gtT p.V691V ABCA4_ENST00000535735.1_Silent_p.V691V NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 691 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CTGCATTGGAGACACCCTGAT 0.483000 20 54 0 0 0.001882 0 0 OGT 8473 broad.mit.edu 37 X 70787355 70787355 + Silent SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chrX:70787355G>A ENST00000373719.3 + 20 2812 c.2595G>A c.(2593-2595)ctG>ctA p.L865L OGT_ENST00000373701.3_Silent_p.L855L NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 865 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) TTTAGATTCTGAAGCGTGTTC 0.398000 18 40 0 0 0.007413 0 0 GRIN2B 2904 broad.mit.edu 37 12 13715886 13715886 + Missense_Mutation SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr12:13715886G>A ENST00000279593.3 - 13 4495 c.4286C>T c.(4285-4287)cCg>cTg p.P1429L NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1429 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CGAGACCACCGGCTTGTTGGT 0.607000 16 54 0 0 0.003163 0 0 LYSMD3 116068 broad.mit.edu 37 5 89814695 89814695 + Missense_Mutation SNP C C G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr5:89814695C>G ENST00000315948.6 - 3 1006 c.862G>C c.(862-864)Gat>Cat p.D288H LYSMD3_ENST00000500869.2_Missense_Mutation_p.K129N|LYSMD3_ENST00000509384.1_3'UTR NM_198273.1 NP_938014.1 Q7Z3D4 LYSM3_HUMAN LysM, putative peptidoglycan-binding, domain containing 3 288 cell wall macromolecule catabolic process integral to membrane breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1) 7 all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22) TTATGATCATCTTGTTGGCTG 0.388000 3 113 0 0 0.000248 0 0 COL6A1 1291 broad.mit.edu 37 21 47404294 47404294 + Silent SNP C C G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr21:47404294C>G ENST00000361866.3 + 3 453 c.339C>G c.(337-339)ctC>ctG p.L113L NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 113 N-terminal globular domain.|VWFA 1. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) GCGACGCACTCAAAAGCAGCG 0.632000 7 20 0 0 0.001984 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35130052 35130052 + RNA SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr7:35130052C>T ENST00000436258.1 - 0 3317 TATTTTTGTCCGAGCCCTTTA 0.264000 14 39 0 0 0.001855 0 0 TRHDE 29953 broad.mit.edu 37 12 72955951 72955951 + Missense_Mutation SNP T T G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr12:72955951T>G ENST00000261180.4 + 8 1756 c.1660T>G c.(1660-1662)Tta>Gta p.L554V TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 554 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 GTAGGATTATTTAACCATTCA 0.274000 4 14 0 0 0.000248 0 0 AFF2 2334 broad.mit.edu 37 X 148037550 148037550 + Missense_Mutation SNP G G C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chrX:148037550G>C ENST00000370460.2 + 11 2454 c.1975G>C c.(1975-1977)Gaa>Caa p.E659Q AFF2_ENST00000370457.5_Missense_Mutation_p.E626Q|AFF2_ENST00000342251.3_Missense_Mutation_p.E626Q|AFF2_ENST00000286437.5_Missense_Mutation_p.E300Q NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 659 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CAAAGAAAAAGAAAGTGTGGA 0.483000 39 159 0 0 0.006230 0 0 ABCA13 154664 broad.mit.edu 37 7 48284272 48284272 + Silent SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr7:48284272G>A ENST00000435803.1 + 11 1386 c.1362G>A c.(1360-1362)gcG>gcA p.A454A NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 454 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TCAGAAATGCGATAGCTCAGA 0.418000 18 53 0 0 0.007413 0 0 PSMB9 5698 broad.mit.edu 37 6 32826344 32826344 + Missense_Mutation SNP A A T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr6:32826344A>T ENST00000453265.2 + 4 531 c.462A>T c.(460-462)ttA>ttT p.L154F PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000374859.2_Intron P28065 PSB9_HUMAN proteasome (prosome, macropain) subunit, beta type, 9 0 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity large_intestine(4)|lung(4)|skin(1) 9 GAAGTAGATTATGAGGAACAG 0.507000 6 16 0 0 0.001168 0 0 RUNX1T1 862 broad.mit.edu 37 8 93026818 93026818 + Silent SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr8:93026818G>A ENST00000523629.1 - 4 911 c.457C>T c.(457-459)Ctg>Ttg p.L153L RUNX1T1_ENST00000521553.1_Silent_p.L116L|RUNX1T1_ENST00000265814.3_Silent_p.L153L|RUNX1T1_ENST00000520724.1_Silent_p.L116L|RUNX1T1_ENST00000518844.1_Silent_p.L126L|RUNX1T1_ENST00000436581.2_Silent_p.L164L|RUNX1T1_ENST00000396218.1_Silent_p.L126L|RUNX1T1_ENST00000422361.2_Silent_p.L116L|RUNX1T1_ENST00000360348.2_Silent_p.L116L 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) 153 TAFH. 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) ACTAGTCCCAGAACGAGGGTG 0.493000 41 74 0 0 0.008740 0 0 ZNF530 348327 broad.mit.edu 37 19 58117555 58117555 + Missense_Mutation SNP G G C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr19:58117555G>C ENST00000332854.6 + 3 882 c.662G>C c.(661-663)aGa>aCa p.R221T ZNF530_ENST00000597864.1_Intron NM_020880.3 NP_065931.3 Q6P9A1 ZN530_HUMAN zinc finger protein 530 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AAATCTTTTAGAGAGAAATCT 0.438000 3 69 0 0 0.004672 0 0 PEG3 5178 broad.mit.edu 37 19 57326231 57326231 + Missense_Mutation SNP C C A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr19:57326231C>A ENST00000326441.9 - 10 3942 c.3579G>T c.(3577-3579)atG>atT p.M1193I PEG3_ENST00000593695.1_Missense_Mutation_p.M1067I|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.M1069I|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.M1193I|ZIM2_ENST00000593711.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1193 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) CACACCCCTTCATGGAATACA 0.473000 21 93 1.50039e-11 2.67102e-11 0.001882 1 0 POLR3A 11128 broad.mit.edu 37 10 79737376 79737376 + Nonsense_Mutation SNP C C A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr10:79737376C>A ENST00000372371.3 - 31 4170 c.4033G>T c.(4033-4035)Gag>Tag p.E1345* NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 1345 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) ATGATGCACTCAGACACCCCT 0.478000 17 59 0.00074312 0.00124109 0.006122 1 0 CDK3 1018 broad.mit.edu 37 17 74001438 74001438 + Silent SNP G G A rs150329289 TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr17:74001438G>A ENST00000425876.2 + 7 940 c.852G>A c.(850-852)ccG>ccA p.P284P CDK3_ENST00000448471.1_Silent_p.P284P|TEN1-CDK3_ENST00000567351.1_RNA Q00526 CDK3_HUMAN cyclin-dependent kinase 3 284 Protein kinase. cell division|cell proliferation|mitosis ATP binding|cyclin-dependent protein kinase activity central_nervous_system(1) 1 TGGCCCACCCGTACTTCTCAT 0.582000 12 53 0 0 0.000978 0 0 MAGEA11 4110 broad.mit.edu 37 X 148797305 148797305 + Missense_Mutation SNP G G T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chrX:148797305G>T ENST00000355220.5 + 4 336 c.234G>T c.(232-234)agG>agT p.R78S MAGEA11_ENST00000333104.4_Missense_Mutation_p.R49S NM_005366.4 NP_005357.2 P43364 MAGAB_HUMAN melanoma antigen family A, 11 78 cytoplasm|nucleus protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GGAGTCCCAGGAGAACCCAGA 0.502000 31 124 1.99505e-19 3.63144e-19 0.002445 1 0 PCDHGB2 56103 broad.mit.edu 37 5 140741612 140741612 + Missense_Mutation SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr5:140741612C>T ENST00000522605.1 + 1 1910 c.1910C>T c.(1909-1911)gCg>gTg p.A637V PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACAGGGACGCGGCCCGCCAG 0.692000 8 17 0 0 0.001368 0 0 LMTK3 114783 broad.mit.edu 37 19 49013282 49013282 + Missense_Mutation SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr19:49013282G>A ENST00000600059.1 - 3 586 c.359C>T c.(358-360)tCa>tTa p.S120L LMTK3_ENST00000270238.3_Missense_Mutation_p.S149L lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) GGCAGTACCTGAGTGTGAAGG 0.622000 10 33 0 0 0.001855 0 0 CCDC125 202243 broad.mit.edu 37 5 68581236 68581236 + Missense_Mutation SNP A A G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr5:68581236A>G ENST00000383374.2 - 9 956 c.872T>C c.(871-873)cTt>cCt p.L291P CCDC125_ENST00000511257.1_Silent_p.P261P|CCDC125_ENST00000396499.1_Silent_p.P386P|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396496.2_Silent_p.P386P Q86Z20 CC125_HUMAN coiled-coil domain containing 125 0 cytoplasm breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1) 19 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) TGTTTTCTGAAGGGAGCATAC 0.418000 17 57 0 0 0.001523 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854235 12854235 + Silent SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr1:12854235C>T ENST00000332296.7 + 3 562 c.459C>T c.(457-459)atC>atT p.I153I NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 153 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCATAGACATCTGCCTCAAGG 0.522000 71 273 0 0 0.003610 0 0 LIPE-AS1 100996307 broad.mit.edu 37 19 42989362 42989362 + RNA SNP C C A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr19:42989362C>A ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000596116.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA NR_073179.1 ATTTCCACATCGGCAGTCAAA 0.393000 9 31 7.48243e-07 1.2827e-06 0.006214 1 0 CSMD3 114788 broad.mit.edu 37 8 113564847 113564847 + Missense_Mutation SNP T T A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr8:113564847T>A ENST00000297405.5 - 26 4581 c.4337A>T c.(4336-4338)gAg>gTg p.E1446V CSMD3_ENST00000455883.2_Missense_Mutation_p.E1342V|CSMD3_ENST00000352409.3_Missense_Mutation_p.E1446V|CSMD3_ENST00000343508.3_Missense_Mutation_p.E1406V NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1446 CUB 8. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGGATCTACCTCAATCATCCA 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 34 0 0 0.003163 0 0 MDN1 23195 broad.mit.edu 37 6 90392899 90392899 + Silent SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr6:90392899C>T ENST00000369393.3 - 73 12169 c.12054G>A c.(12052-12054)ctG>ctA p.L4018L MDN1_ENST00000428876.1_Silent_p.L4018L Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4018 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GTGCCCTGTTCAGATTCTGAA 0.547000 18 47 0 0 0.007413 0 0 ARSI 340075 broad.mit.edu 37 5 149677008 149677008 + Silent SNP G G A rs141146390 TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr5:149677008G>A ENST00000328668.7 - 2 2058 c.1479C>T c.(1477-1479)gcC>gcT p.A493A NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 493 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGTTATATTCGGCCAGGCGAG 0.632000 25 95 0 0 0.004656 0 0 TNRC6A 27327 broad.mit.edu 37 16 24801451 24801451 + Silent SNP A A T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr16:24801451A>T ENST00000395799.3 + 6 1617 c.1488A>T c.(1486-1488)ccA>ccT p.P496P TNRC6A_ENST00000315183.7_Silent_p.P496P NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 496 Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TGCAGGCTCCATCAGGTATGA 0.473000 13 91 0 0 0.002450 0 0 MALSU1 115416 broad.mit.edu 37 7 23339007 23339007 + Silent SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr7:23339007C>T ENST00000466681.1 + 1 189 c.36C>T c.(34-36)gcC>gcT p.A12A MALSU1_ENST00000479974.1_Intron NM_138446.1 NP_612455.1 Q96EH3 CG030_HUMAN mitochondrial assembly of ribosomal large subunit 1 12 mitochondrion GGCTGCTCGCCCCACTAATGT 0.716000 4 15 0 0 0.000248 0 0 RFX6 222546 broad.mit.edu 37 6 117246698 117246698 + Silent SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr6:117246698C>T ENST00000332958.2 + 16 1777 c.1761C>T c.(1759-1761)gaC>gaT p.D587D NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 587 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TTTCCAGCGACGCTGTGAAGA 0.517000 30 95 0 0 0.001786 0 0 OR2J2 26707 broad.mit.edu 37 6 29142034 29142034 + Missense_Mutation SNP G G T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr6:29142034G>T ENST00000377167.2 + 1 724 c.622G>T c.(622-624)Gtt>Ttt p.V208F NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 CTCCATTTTTGTTCTCATACC 0.468000 43 109 2.26627e-22 4.14843e-22 0.007835 1 0 CXorf22 170063 broad.mit.edu 37 X 35989886 35989886 + Missense_Mutation SNP A A C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chrX:35989886A>C ENST00000297866.5 + 12 2220 c.2154A>C c.(2152-2154)agA>agC p.R718S NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 718 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 CTGTGAGAAGAAAGGCACGTG 0.363000 16 20 0 0 0.004007 0 0 ABLIM1 3983 broad.mit.edu 37 10 116251550 116251550 + Splice_Site SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr10:116251550C>T ENST00000369252.4 - 7 1103 c.802_splice c.e7+1 p.G268_splice ABLIM1_ENST00000369266.3_Splice_Site_p.G12_splice|ABLIM1_ENST00000369253.2_Splice_Site_p.G12_splice|ABLIM1_ENST00000277895.5_Splice_Site_p.G328_splice|ABLIM1_ENST00000392952.3_Splice_Site_p.G12_splice|ABLIM1_ENST00000533213.2_Splice_Site_p.G268_splice NM_001003407.1|NM_001003408.1 NP_001003407.1|NP_001003408.1 O14639 ABLM1_HUMAN actin binding LIM protein 1 328 LIM zinc-binding 3. axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) TCCACCTCACCTTGAAGATAC 0.438000 25 94 0 0 0.002780 0 0 GPR133 283383 broad.mit.edu 37 12 131476850 131476850 + Silent SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr12:131476850C>T ENST00000261654.5 + 8 1438 c.879C>T c.(877-879)ccC>ccT p.P293P RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Silent_p.P325P NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 293 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TCCAAAGTCCCGGAGTGATAC 0.458000 45 129 0 0 0.002522 0 0 OBP2A 29991 broad.mit.edu 37 9 138439759 138439759 + Missense_Mutation SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr9:138439759C>T ENST00000539850.1 + 4 346 c.320C>T c.(319-321)aCg>aTg p.T107M OBP2A_ENST00000340780.3_Missense_Mutation_p.T107M|OBP2A_ENST00000371776.1_Missense_Mutation_p.T107M|OBP2A_ENST00000342114.4_Silent_p.D62D Q9NY56 OBP2A_HUMAN odorant binding protein 2A 107 response to stimulus|sensory perception of smell extracellular region odorant binding|transporter activity endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) CTGCCCGGGACGGACGACTAC 0.607000 10 26 0 0 0.008291 0 0 CRYBB3 1417 broad.mit.edu 37 22 25601219 25601219 + Silent SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr22:25601219G>A ENST00000215855.2 + 5 440 c.360G>A c.(358-360)gaG>gaA p.E120E CRYBB3_ENST00000404334.1_Intron NM_004076.3 NP_004067.1 P26998 CRBB3_HUMAN crystallin, beta B3 120 Beta/gamma crystallin 'Greek key' 3. visual perception protein binding|structural constituent of eye lens large_intestine(2)|lung(2)|prostate(1) 5 ATCTGTTTGAGAACCCAGCTT 0.567000 14 49 0 0 0.003163 0 0 GTPBP8 29083 broad.mit.edu 37 3 112718380 112718380 + Missense_Mutation SNP C C G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr3:112718380C>G ENST00000383677.3 + 4 670 c.655C>G c.(655-657)Caa>Gaa p.Q219E GTPBP8_ENST00000467752.1_Missense_Mutation_p.Q141E|GTPBP8_ENST00000383678.2_Missense_Mutation_p.Q252E|GTPBP8_ENST00000473129.1_Missense_Mutation_p.Q102E NM_138485.1 NP_612494.1 Q8N3Z3 GTPB8_HUMAN GTP-binding protein 8 (putative) 252 G. barrier septum formation GTP binding kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 6 CATGAAAACTCAAGGATGTTT 0.289000 14 65 0 0 0.002450 0 0 TBL1XR1 79718 broad.mit.edu 37 3 176765338 176765338 + Splice_Site SNP C C G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr3:176765338C>G ENST00000430069.1 - 8 962 c.e8-1 TBL1XR1-AS1_ENST00000454723.2_RNA|TBL1XR1_ENST00000457928.2_Splice_Site Q9BZK7 TBL1R_HUMAN transducin (beta)-like 1 X-linked receptor 1 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214) Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215) OV - Ovarian serous cystadenocarcinoma(80;9.83e-31) TACCTTCACTCTGCCAGAGAA 0.328000 8 29 0 0 0.004482 0 0 EFCAB12 90288 broad.mit.edu 37 3 129137260 129137260 + Missense_Mutation SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr3:129137260C>T ENST00000505956.1 - 3 680 c.518G>A c.(517-519)cGc>cAc p.R173H EFCAB12_ENST00000326085.3_Missense_Mutation_p.R173H NM_207307.1 NP_997190.1 EF-hand calcium binding domain 12 p.R173H(1) CACCATCTGGCGGGACAGCCG 0.612000 7 12 0 0 0.003080 0 0 FSTL1 11167 broad.mit.edu 37 3 120130792 120130792 + Missense_Mutation SNP A A C TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr3:120130792A>C ENST00000295633.3 - 4 563 c.207T>G c.(205-207)aaT>aaG p.N69K FSTL1_ENST00000424703.2_Missense_Mutation_p.N34K NM_007085.4 NP_009016.1 Q12841 FSTL1_HUMAN follistatin-like 1 69 Kazal-like. BMP signaling pathway extracellular space calcium ion binding|heparin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1) 20 GBM - Glioblastoma multiforme(114;0.189) AGGTCTTGCCATTACTGCCAC 0.473000 25 81 0 0 0.002780 0 0 BAZ2B 29994 broad.mit.edu 37 2 160243034 160243034 + Nonsense_Mutation SNP G G A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr2:160243034G>A ENST00000392783.2 - 22 3796 c.3301C>T c.(3301-3303)Cga>Tga p.R1101* BAZ2B_ENST00000392782.1_Nonsense_Mutation_p.R1065*|BAZ2B_ENST00000343439.5_Nonsense_Mutation_p.R1001*|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000355831.2_Nonsense_Mutation_p.R1067* NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1101 DDT. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 CCAAAGTTTCGTAAGAACTGC 0.413000 13 45 0 0 0.001368 0 0 MED15 51586 broad.mit.edu 37 22 20940876 20940876 + Missense_Mutation SNP C C T TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr22:20940876C>T ENST00000263205.7 + 18 2321 c.2252C>T c.(2251-2253)tCg>tTg p.S751L MED15_ENST00000292733.7_Missense_Mutation_p.S711L|MED15_ENST00000425759.2_Missense_Mutation_p.S600L|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.S640L|MED15_ENST00000541476.1_Missense_Mutation_p.S685L|MED15_ENST00000406969.1_Missense_Mutation_p.S685L NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 751 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) TTCCTCCAGTCGGTGCACCGC 0.677000 27 65 0 0 0.001786 0 0 PUS7L 83448 broad.mit.edu 37 12 44148421 44148421 + Missense_Mutation SNP C C G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr12:44148421C>G ENST00000416848.2 - 2 1116 c.628G>C c.(628-630)Gta>Cta p.V210L PUS7L_ENST00000551923.1_Missense_Mutation_p.V210L|PUS7L_ENST00000344862.5_Missense_Mutation_p.V210L|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Missense_Mutation_p.V210L NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 210 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) TCTTCAGATACCAAATGACAA 0.299000 4 24 0 0 0.000248 0 0 MMP17 4326 broad.mit.edu 37 12 132323155 132323155 + Splice_Site SNP A A G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr12:132323155A>G ENST00000360564.1 + 3 394 c.e3-1 MMP17_ENST00000535291.1_Splice_Site NM_016155.4 NP_057239.4 Q9ULZ9 MMP17_HUMAN matrix metallopeptidase 17 (membrane-inserted) proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(1) 5 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) CTTTCCCTGCAGACGAGGCCA 0.667000 4 13 0 0 0.000602 0 0 TRPM3 80036 broad.mit.edu 37 9 73457992 73457992 + Missense_Mutation SNP C C G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr9:73457992C>G ENST00000377110.2 - 5 971 c.728G>C c.(727-729)cGa>cCa p.R243P TRPM3_ENST00000396283.1_Missense_Mutation_p.R90P|TRPM3_ENST00000396285.1_Missense_Mutation_p.R90P|TRPM3_ENST00000360823.2_Missense_Mutation_p.R90P|TRPM3_ENST00000396292.4_Missense_Mutation_p.R90P|TRPM3_ENST00000357533.2_Missense_Mutation_p.R245P|TRPM3_ENST00000358082.3_Missense_Mutation_p.R90P|TRPM3_ENST00000361823.5_Missense_Mutation_p.R90P|TRPM3_ENST00000396280.5_Missense_Mutation_p.R90P|TRPM3_ENST00000377105.1_Missense_Mutation_p.R90P|TRPM3_ENST00000377106.1_Missense_Mutation_p.R90P|TRPM3_ENST00000423814.3_Missense_Mutation_p.R245P|TRPM3_ENST00000408909.2_Missense_Mutation_p.R90P|TRPM3_ENST00000377101.1_Missense_Mutation_p.R90P|TRPM3_ENST00000377097.3_Missense_Mutation_p.R90P|TRPM3_ENST00000377111.2_Missense_Mutation_p.R243P NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 243 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TATCTTTCCTCGAGACTTAGA 0.423000 7 38 0 0 0.004482 0 0 KIF5B 3799 broad.mit.edu 37 10 32329357 32329357 + Missense_Mutation SNP T T C rs147256984 TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr10:32329357T>C ENST00000302418.4 - 3 700 c.243A>G c.(241-243)atA>atG p.I81M NM_004521.2 NP_004512.1 P33176 KINH_HUMAN kinesin family member 5B 81 Kinesin-motor. stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(8)|KIF5B/RET(79) NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1) 35 Prostate(175;0.0137) CATATGCAAATATTGTTCCAT 0.328000 T """RET, ALK""" NSCLC 13 43 0 0 0.003163 0 0 IL1R2 7850 broad.mit.edu 37 2 102638648 102638649 + Splice_Site INS - - A TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr2:102638648_102638649insA ENST00000332549.3 + 6 917_918 c.e6-1 IL1R2_ENST00000441002.1_Splice_Site|IL1R2_ENST00000393414.2_Splice_Site NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) ATCTTTCTCAGAAAAAAAAGAA 0.441 7 217 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187540720 187540742 + Frame_Shift_Del DEL GCCAGTGCTGCTGTCTACATGAA GCCAGTGCTGCTGTCTACATGAA - TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr4:187540720_187540742delGCCAGTGCTGCTGTCTACATGAA ENST00000441802.2 - 10 7207_7229 c.6998_7020delTTCATGTAGACAGCAGCACTGGC c.(6997-7020)tfs p.FHVDSSTG2333fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2333 Cadherin 21. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GTGAGATGAGGCCAGTGCTGCTGTCTACATGAAAATGATCATG 0.480 HNSCC(5;0.00058) 8 154 --- --- --- --- AKAP7 9465 broad.mit.edu 37 6 131540807 131540807 + Frame_Shift_Del DEL A A - TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr6:131540807delA ENST00000431975.2 + 7 807 c.709delA c.(709-711)aafs p.K238fs AKAP7_ENST00000263050.3_5'UTR|AKAP7_ENST00000368123.4_Frame_Shift_Del_p.K216fs|AKAP7_ENST00000541650.1_Frame_Shift_Del_p.K237fs|AKAP7_ENST00000537868.1_5'UTR NM_016377.3 NP_057461.2 O43687 AKA7A_HUMAN A kinase (PRKA) anchor protein 7 0 intracellular signal transduction|ion transport apical plasma membrane|intracellular|lateral plasma membrane protein kinase A binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1) 13 Breast(56;0.152) GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345) CAAGGGAGTGAAAAAAATAGA 0.308 7 34 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89407165 89407165 + RNA DEL T T - rs112016970 TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr11:89407165delT ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 CATCAATGACTTTTTTTTTTT 0.303 5 5 --- --- --- --- COPZ1 22818 broad.mit.edu 37 12 54718955 54718956 + In_Frame_Ins INS - - GCG TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr12:54718955_54718956insGCG ENST00000262061.2 + 1 45_46 c.8_9insGCG c.(7-9)gct>gGCGct p.2_3insG COPZ1_ENST00000455864.2_In_Frame_Ins_p.2_3insG|COPZ1_ENST00000549116.1_In_Frame_Ins_p.2_3insG|COPZ1_ENST00000549043.1_5'UTR|COPZ1_ENST00000551779.1_In_Frame_Ins_p.2_3insG|RP11-968A15.8_ENST00000553061.1_RNA|COPZ1_ENST00000552218.1_In_Frame_Ins_p.2_3insG|COPZ1_ENST00000552362.1_In_Frame_Ins_p.2_3insG|COPZ1_ENST00000416254.2_5'UTR|COPZ1_ENST00000553231.1_In_Frame_Ins_p.2_3insG NM_001271734.1|NM_001271736.1|NM_016057.1 NP_001258663.1|NP_001258665.1|NP_057141.1 P61923 COPZ1_HUMAN coatomer protein complex, subunit zeta 1 2 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol kidney(1)|lung(4) 5 AAGATGGAGGCGCTGATTTTGG 0.619 OREG0021891 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 4 --- --- --- --- TPTE2P1 646405 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 3 4 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578267 7578267 + Frame_Shift_Del DEL A A - TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx d3717097-7cdb-446f-a020-78c770362656 8e02ba07-6e8c-4016-af03-7601c57fbc9a g.chr17:7578267delA ENST00000420246.2 - 6 714 c.582delT c.(580-582)ctfs p.L194fs TP53_ENST00000413465.2_Frame_Shift_Del_p.L194fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L194fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.L194fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.L194fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L194fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 194 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.?(6)|p.L194L(4)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*52(3)|p.P191_E198>Q(3)|p.I63fs*>28(1)|p.I195fs*14(1)|p.L194fs*52(1)|p.I195fs*50(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.I102fs*52(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.I195fs*12(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) CCACTCGGATAAGATGCTGAG 0.552 111 """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) 9 33 --- --- --- ---