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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut GYS1 2997 broad.mit.edu 37 19 49477944 49477944 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:49477944G>A uc002plp.3 - 10 1596 c.1355C>T c.(1354-1356)tCc>tTc p.S452F GYS1_uc010emm.3_Missense_Mutation_p.S388F|GYS1_uc010xzz.2_Missense_Mutation_p.S372F|GYS1_uc010yaa.1_Non-coding_Transcript|Mir_324_uc021uxe.1_5'Flank NM_002103 NP_002094 P13807 GYS1_HUMAN Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA. 452 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) GGGGTCTGAGGAGTCATCCAG 0.587000 41 24 0 0 0.000117367 0 0 PTPN5 84867 broad.mit.edu 37 11 18750513 18750513 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:18750513C>T uc001mpd.3 - 14 2097 c.1666G>A c.(1666-1668)Gaa>Aaa p.E556K IGSF22_uc009yht.2_5'Flank|IGSF22_uc001mpa.2_5'Flank|PTPN5_uc001mpb.3_Missense_Mutation_p.E524K|PTPN5_uc001mpc.3_Missense_Mutation_p.E556K|PTPN5_uc010rdj.2_Missense_Mutation_p.E500K|PTPN5_uc001mpf.3_Missense_Mutation_p.E532K|PTPN5_uc001mpe.3_Missense_Mutation_p.E524K|PTPN5_uc010rdk.2_Missense_Mutation_p.E501K NM_006906 NP_116170 P54829 PTN5_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA. 556 integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 AGCTGCTTTTCGTAGAGGCTC 0.622000 31 34 0 0 0.000191422 0 0 HOXC6 3223 broad.mit.edu 37 12 54423524 54423524 + Silent SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr12:54423524C>T uc001sev.3 + 1 598 c.486C>T c.(484-486)ttC>ttT p.F162F HOXC6_uc001ses.3_Silent_p.F80F|HOXC5_uc001set.3_Intron|HOXC4_uc001seu.3_Intron NM_004503 NP_710160 P09630 HXC6_HUMAN Homo sapiens homeobox C6 (HOXC6), transcript variant 1, mRNA. 162 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AATTTCACTTCAATCGCTACC 0.607000 82 56 0 0 0.000147903 0 0 TTC17 55761 broad.mit.edu 37 11 43471746 43471746 + Silent SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:43471746C>T uc001mxi.3 + 19 2971 c.2901C>T c.(2899-2901)tcC>tcT p.S967S TTC17_uc010rfj.2_Silent_p.S967S|TTC17_uc001mxl.3_Silent_p.S23S NM_018259 NP_060729 Q96AE7 TTC17_HUMAN Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA. 967 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 ATGGGGTTTCCAACCGAGCCA 0.517000 39 13 0 0 0.000219431 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6064049 6064049 + Missense_Mutation SNP C A A rs146441068 TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr4:6064049C>A uc010idb.1 - 9 2036 c.1550G>T c.(1549-1551)aGg>aTg p.R517M JAKMIP1_uc010idc.1_Missense_Mutation_p.R332M|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc003giu.4_Missense_Mutation_p.R517M|JAKMIP1_uc011bwc.2_Missense_Mutation_p.R352M|JAKMIP1_uc003giv.4_Missense_Mutation_p.R517M|JAKMIP1_uc010ide.3_Missense_Mutation_p.R517M NM_001099433 NP_001092903 Q96N16 JKIP1_HUMAN Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA. 517 Mediates interaction with TYK2 and GABBR1. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CCGGGCCTCCCTCTCAGCGTC 0.667000 63 31 3.03874e-20 8.73131e-19 0.00058488 1 0 PTEN 5728 broad.mit.edu 37 10 89692922 89692922 + Missense_Mutation SNP T C C TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr10:89692922T>C uc001kfb.3 + 4 1438 c.406T>C c.(406-408)Tgt>Cgt p.C136R PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 136 Phosphatase tensin-type. C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3). T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development PML body|cytosol|internal side of plasma membrane PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.C136R(9)|p.C136Y(8)|p.I135fs*44(6)|p.C136F(5)|p.?(5)|p.R55fs*1(5)|p.C136fs*1(4)|p.I135K(3)|p.I135fs*45(3)|p.I135V(2)|p.Y27_N212>Y(2)|p.A121_F145del(2)|p.I135_A137>T(2)|p.I135fs*6(2)|p.Y27fs*1(2)|p.I135fs*12(1)|p.T131fs*42(1)|p.C136_A137insGM(1)|p.I135del(1)|p.F56fs*2(1)|p.I135M(1)|p.C136W(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TGTAATGATATGTGCATATTT 0.388000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 13 40 0 0 0.000270559 0 0 OR5K3 403277 broad.mit.edu 37 3 98110314 98110314 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr3:98110314G>A uc011bgw.2 + 0 805 c.805G>A c.(805-807)Gat>Aat p.D269N NM_001005516 NP_001005516 A6NET4 OR5K3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA. 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 AGGGGATAAAGATATACCTGT 0.299000 5 25 0 0 0.000375601 0 0 CYP4F3 4051 broad.mit.edu 37 19 15757879 15757879 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:15757879G>A uc010xok.2 + 3 411 c.361G>A c.(361-363)Gac>Aac p.D121N CYP4F3_uc010xol.2_Missense_Mutation_p.D121N|CYP4F3_uc002nbj.3_Missense_Mutation_p.D121N|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Missense_Mutation_p.D121N|CYP4F3_uc010xon.2_5'Flank NM_001199208 NP_001186137 Q08477 CP4F3_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA. 121 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TGTACCAAAGGACAAGGTCTT 0.577000 41 36 0 0 0.000319135 0 0 NHSL2 340527 broad.mit.edu 37 X 71358756 71358756 + Missense_Mutation SNP G A A rs138787811 byFrequency TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chrX:71358756G>A uc011mqa.2 + 5 1358 c.1358G>A c.(1357-1359)gGg>gAg p.G453E NHSL2_uc004eak.1_Missense_Mutation_p.G87E|NHSL2_uc010nli.2_Missense_Mutation_p.G222E NM_001013627 NP_001013649 F5H593 F5H593_HUMAN Homo sapiens NHS-like 2 (NHSL2), mRNA. 453 NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) GGATGCAGTGGGTCAGCTGGC 0.557000 3 13 0 0 0.00010058 0 0 CENPE 1062 broad.mit.edu 37 4 104063010 104063010 + Missense_Mutation SNP T C C TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr4:104063010T>C uc003hxb.1 - 34 5450 c.5360A>G c.(5359-5361)cAg>cGg p.Q1787R CENPE_uc003hxc.1_Missense_Mutation_p.Q1762R|CENPE_uc003hxd.1_5'Flank NM_001813 NP_001804 Q02224 CENPE_HUMAN Homo sapiens centromere protein E, 312kDa (CENPE), mRNA. 1787 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) AATAGTTTCCTGCTGCTCTTT 0.299000 27 31 0 0 0.000109025 0 0 LTB 4050 broad.mit.edu 37 6 31550182 31550182 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr6:31550182C>T uc003nuk.3 - 0 21 c.13G>A c.(13-15)Ggg>Agg p.G5R LTB_uc003nul.3_Missense_Mutation_p.G5R NM_002341 NP_002332 Q06643 TNFC_HUMAN Homo sapiens lymphotoxin beta (TNF superfamily, member 3) (LTB), transcript variant 1, mRNA. 5 cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 9 Infliximab(DB00065)|Simvastatin(DB00641) CCCTCCAGCCCCAGTGCCCCC 0.652000 18 24 0 0 0.000117367 0 0 ADAM30 11085 broad.mit.edu 37 1 120437782 120437783 + Missense_Mutation DNP GG TT TT TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:120437782_120437783GG>TT uc001eij.3 - 0 1365_1366 c.1177_1178CC>AA c.(1177-1179)cca>AAa p.P393K NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA. 393 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) ACCTAGTCCTGGGATATTATTT 0.411000 849 12 0 0 6.4e-05 0 0 CEP41 95681 broad.mit.edu 37 7 130038776 130038777 + Missense_Mutation DNP GG TT TT TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr7:130038776_130038777GG>TT uc003vpz.3 - 10 1124_1125 c.1077_1078CC>AA c.(1075-1080)ccccgc>ccAAgc p.R360S CEP41_uc003vpy.3_Missense_Mutation_p.R122S|CEP41_uc010lmf.3_Missense_Mutation_p.R157S|CEP41_uc003vqa.3_Missense_Mutation_p.R288S|CEP41_uc011kpg.2_Missense_Mutation_p.R272S NM_018718 NP_061188 Q9BYV8 CEP41_HUMAN Homo sapiens centrosomal protein 41kDa (CEP41), mRNA. 360 G2/M transition of mitotic cell cycle centrosome|cytosol CTGAGGGAGCGGGGGTTTGAGT 0.559000 669 14 0 0 6.4e-05 0 0 SPINLW1-WFDC6 100526773 broad.mit.edu 37 20 44171395 44171395 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr20:44171395C>T uc010zxc.2 - 2 404 c.335G>A c.(334-336)gGa>gAa p.G112E SPINLW1-WFDC6_uc002xou.3_Missense_Mutation_p.G112E|SPINLW1-WFDC6_uc002xov.2_3'UTR NM_001198986 NP_001185915 A6PVD6 A6PVD6_HUMAN Homo sapiens SPINLW1-WFDC6 readthrough (SPINLW1-WFDC6), mRNA. 112 extracellular region serine-type endopeptidase inhibitor activity GTTATTGTTTCCCTGGCAGCC 0.468000 84 57 0 0 0.000147903 0 0 GLT25D1 79709 broad.mit.edu 37 19 17678331 17678331 + Missense_Mutation SNP G C C TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:17678331G>C uc002nhc.1 + 3 618 c.606G>C c.(604-606)tgG>tgC p.W202C GLT25D1_uc010eax.1_5'Flank NM_024656 NP_078932 Q8NBJ5 GT251_HUMAN Homo sapiens glycosyltransferase 25 domain containing 1 (GLT25D1), mRNA. 202 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 14 CCAACTTCTGGTGTGGAATGA 0.592000 19 5 0 0 3.59834e-05 0 0 FAM71B 153745 broad.mit.edu 37 5 156589904 156589905 + Missense_Mutation DNP CC AA AA TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr5:156589904_156589905CC>AA uc003lwn.3 - 1 1471_1472 c.1371_1372GG>TT c.(1369-1374)gcgggg>gcTTgg p.G458W NM_130899 NP_570969 Q8TC56 FA71B_HUMAN Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA. 458 nucleus p.A457A(2) NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTCTTGTCCCCCGCTCTCCTGC 0.480000 359 9 0 0 6.4e-05 0 0 CRISP2 7180 broad.mit.edu 37 6 49665657 49665657 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr6:49665657G>A uc003ozn.2 - 7 667 c.431C>T c.(430-432)tCg>tTg p.S144L CRISP2_uc003ozr.2_Missense_Mutation_p.S144L|CRISP2_uc003ozo.2_Missense_Mutation_p.S144L|CRISP2_uc003ozm.2_Missense_Mutation_p.S144L|CRISP2_uc003ozp.2_Missense_Mutation_p.S144L|CRISP2_uc003ozq.2_Missense_Mutation_p.S144L|CRISP2_uc003ozl.2_Missense_Mutation_p.S144L NM_001142417 NP_003287 P16562 CRIS2_HUMAN Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA. 144 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) CTGGTAAGTCGAGTACCAAAC 0.313000 62 38 0 0 0.000374591 0 0 CD53 963 broad.mit.edu 37 1 111437611 111437611 + Silent SNP C A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:111437611C>A uc001dzw.3 + 5 528 c.357C>A c.(355-357)acC>acA p.T119T CD53_uc001dzx.3_Silent_p.T119T|CD53_uc010owa.2_Intron NM_001040033 NP_001035122 P19397 CD53_HUMAN Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA. 119 signal transduction integral to membrane|plasma membrane p.T119T(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 17 all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144) AGGGTCTGACCGACAGCATCC 0.507000 66 36 1.67305e-13 4.7106e-12 0.000228196 1 0 FAT3 120114 broad.mit.edu 37 11 92577244 92577245 + Missense_Mutation DNP GG TT TT TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:92577244_92577245GG>TT uc001pdj.4 + 17 10728_10729 c.10711_10712GG>TT c.(10711-10713)ggg>TTg p.G3571L FAT3_uc001pdi.4_Missense_Mutation_p.G11L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 3571 Cadherin 33. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGGGGTCATTGGGAAGATTCAT 0.475000 TCGA Ovarian(4;0.039) 517 10 0 0 6.4e-05 0 0 FBXL13 222235 broad.mit.edu 37 7 102518846 102518846 + Silent SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr7:102518846C>T uc003vaq.2 - 14 1867 c.1440G>A c.(1438-1440)agG>agA p.R480R FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Silent_p.R480R|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Silent_p.R480R NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA. 480 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 GCTCTCTTATCCTCATGCTTG 0.348000 46 36 0 0 0.000509022 0 0 OR2L3 391192 broad.mit.edu 37 1 248224777 248224777 + Missense_Mutation SNP G A A rs148776094 TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:248224777G>A uc001idx.1 + 0 794 c.794G>A c.(793-795)cGa>cAa p.R265Q OR2L13_uc001ids.3_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA. 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R265Q(2) cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) AGATCCCTGCGATCTCCAACA 0.507000 77 33 0 0 0.000159656 0 0 HYDIN 54768 broad.mit.edu 37 16 70891730 70891730 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr16:70891730G>A uc002ezr.3 - 71 12321 c.12170C>T c.(12169-12171)tCa>tTa p.S4057L HYDIN_uc010cfy.3_Non-coding_Transcript NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 4058 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GGTCCATGATGACTCAGTGAT 0.463000 42 5 0 0 3.86212e-05 0 0 NELL2 4753 broad.mit.edu 37 12 44913862 44913862 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr12:44913862C>T uc010skz.1 - 19 2601 c.2476G>A c.(2476-2478)Gaa>Aaa p.E826K NELL2_uc001rof.3_Missense_Mutation_p.E775K|NELL2_uc001rog.2_Missense_Mutation_p.E776K|NELL2_uc001roh.2_Missense_Mutation_p.E776K|NELL2_uc009zkd.2_Missense_Mutation_p.E728K|NELL2_uc010sla.1_Missense_Mutation_p.E799K NM_001145107 NP_006150 Q99435 NELL2_HUMAN Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA. 776 cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) ACATTCATTTCGTCCAGGCAA 0.498000 39 39 0 0 0.000437636 0 0 OR51V1 283111 broad.mit.edu 37 11 5221880 5221880 + Silent SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:5221880C>T uc010qyz.2 - 0 51 c.51G>A c.(49-51)acG>acA p.T17T NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA. 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T17T(2) endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGAAGAATTCGTGCTGGTGC 0.428000 34 27 0 0 9.22233e-05 0 0 ZNF418 147686 broad.mit.edu 37 19 58437712 58437712 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:58437712G>A uc002qqs.1 - 3 2129 c.1837C>T c.(1837-1839)Cat>Tat p.H613Y ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Missense_Mutation_p.H528Y NM_133460 NP_597717 Q8TF45 ZN418_HUMAN Homo sapiens zinc finger protein 418 (ZNF418), mRNA. 613 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H613N(2) cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) CCTCGAGTATGAAGTCTCTGA 0.453000 62 39 0 0 0.000191422 0 0 OTUD6A 139562 broad.mit.edu 37 X 69282557 69282557 + Silent SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chrX:69282557G>A uc004dxu.1 + 0 217 c.183G>A c.(181-183)caG>caA p.Q61Q NM_207320 NP_997203 Q7L8S5 OTU6A_HUMAN Homo sapiens OTU domain containing 6A (OTUD6A), mRNA. 61 autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 AGCACCGGCAGGAGCTGGAGA 0.557000 5 9 0 0 3.86212e-05 0 0 LRP6 4040 broad.mit.edu 37 12 12315156 12315157 + Missense_Mutation DNP GG TT TT TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr12:12315156_12315157GG>TT uc001rah.4 - 9 2391_2392 c.2249_2250CC>AA c.(2248-2250)ccc>cAA p.P750Q BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.P750Q NM_002336 NP_002327 O75581 LRP6_HUMAN Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA. 750 Beta-propeller 3. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) CGAGAGCTCTGGGACTATCTAG 0.480000 495 9 0 0 6.4e-05 0 0 NCAPD2 9918 broad.mit.edu 37 12 6636085 6636085 + Silent SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr12:6636085C>T uc001qoo.2 + 21 2809 c.2763C>T c.(2761-2763)ttC>ttT p.F921F NCAPD2_uc009zen.1_Silent_p.F793F|NCAPD2_uc010sfd.1_Silent_p.F876F NM_014865 NP_055680 Q15021 CND1_HUMAN Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA. 921 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 TCCCCACTTTCCTGTTGATGA 0.572000 63 44 0 0 0.000589545 0 0 ZNF831 128611 broad.mit.edu 37 20 57828183 57828183 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr20:57828183G>A uc002yan.3 + 3 4178 c.4178G>A c.(4177-4179)cGa>cAa p.R1393Q NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 1393 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) ATGGACAAACGAACTGTGAAG 0.468000 85 50 0 0 0.000147903 0 0 NAP1L2 4674 broad.mit.edu 37 X 72434151 72434151 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chrX:72434151C>T uc004ebi.3 - 0 560 c.178G>A c.(178-180)Gaa>Aaa p.E60K NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA. 60 nucleosome assembly chromatin assembly complex p.G59V(1) NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) TCACCGTTTTCCCCTTCTTCC 0.582000 6 32 0 0 0.000279167 0 0 IQSEC2 23096 broad.mit.edu 37 X 53279585 53279585 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chrX:53279585G>A uc004dsd.3 - 4 2374 c.2173C>T c.(2173-2175)Ccg>Tcg p.P725S IQSEC2_uc004dsc.3_Missense_Mutation_p.P520S|IQSEC2_uc022bxf.1_Missense_Mutation_p.P488S NM_001111125 NP_001104595 Q5JU85 IQEC2_HUMAN Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA. 715 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 CCGGTAGCCGGAGGCTCCCTT 0.572000 2 13 0 0 0.00010058 0 0 PITRM1 10531 broad.mit.edu 37 10 3181112 3181112 + Silent SNP G C C TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr10:3181112G>C uc009xhv.2 - 24 2973 c.2904C>G c.(2902-2904)gtC>gtG p.V968V PITRM1_uc001igr.2_Silent_p.V967V|PITRM1_uc001igt.2_Silent_p.V967V|PITRM1_uc010qah.2_Silent_p.V869V|PITRM1_uc001igu.1_Silent_p.V893V|PITRM1_uc010qai.2_Silent_p.V938V|LOC100507034_uc001igv.2_5'Flank NM_001242307 NP_001229236 E7ES23 E7ES23_HUMAN Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 869 proteolysis metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3) 33 CTGAAGGAGCGACAGGAGCAT 0.483000 132 85 0 0 0.000147903 0 0 MUC5B 727897 broad.mit.edu 37 11 1273675 1273675 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:1273675C>T uc001lta.3 + 31 15025 c.14966C>T c.(14965-14967)tCc>tTc p.S4989F NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 4989 cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TGTCCCACCTCCCCACCGCCA 0.652000 21 28 0 0 9.22233e-05 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14850212 14850212 + Splice_Site SNP G T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr18:14850212G>T uc010dlo.2 + 35 3219 c.3039_splice c.e35-1 p.R1013_splice ANKRD30B_uc021uhy.1_Splice_Site_p.R1013_splice|ANKRD30B_uc010xal.1_Splice_Site_p.R155_splice NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA. 1098 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 TTTAATGGCAGATTGACTTTA 0.269000 1 5 3.59834e-05 0.000993176 3.59834e-05 1 0 UBC 7316 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T G G rs149119138 by1000genomes TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr17:21731144T>G uc002gyy.3 + 1 571 c.446T>G c.(445-447)cTg>cGg p.L149R P0CG48 UBC_HUMAN SubName: Full=Uncharacterized protein; 301 Ubiquitin-like 2. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.L149R(18)|p.R148S(1) breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) GTCCTGCGTCTGAGAGGTGGT 0.542000 71 6 0 0 3.59834e-05 0 0 FAT3 120114 broad.mit.edu 37 11 92088078 92088079 + Missense_Mutation DNP CC AA AA TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:92088078_92088079CC>AA uc001pdj.4 + 0 2817_2818 c.2800_2801CC>AA c.(2800-2802)cca>AAa p.P934K NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 934 Cadherin 8. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGACTGCTCCCCAGCTTTCATT 0.446000 TCGA Ovarian(4;0.039) 622 13 0 0 6.4e-05 0 0 NOS3 4846 broad.mit.edu 37 7 150707703 150707703 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr7:150707703G>A uc003wif.3 + 21 3000 c.2704G>A c.(2704-2706)Gag>Aag p.E902K NOS3_uc011kuy.2_Missense_Mutation_p.E696K NM_000603 NP_000594 P29474 NOS3_HUMAN Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA. 902 FAD-binding FR-type. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia Golgi membrane|caveola|cytoskeleton|cytosol FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) ACGCTACGAGGAGTGGAAGTG 0.667000 8 4 0 0 1.23904e-05 0 0 PTPRT 11122 broad.mit.edu 37 20 40980729 40980729 + Missense_Mutation SNP A T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr20:40980729A>T uc002xkg.3 - 9 1941 c.1757T>A c.(1756-1758)aTt>aAt p.I586N PTPRT_uc010ggj.3_Missense_Mutation_p.I586N NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 586 homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GATACCTGAAATTTTGGTGGC 0.473000 49 34 0 0 0.00058488 0 0 DOM3Z 1797 broad.mit.edu 37 6 31938769 31938770 + Missense_Mutation DNP CG AT AT TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr6:31938769_31938770CG>AT uc003nyp.1 - 2 844_845 c.511_512CG>AT c.(511-513)cgg>ATg p.R171M DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank NM_005510 NP_005501 O77932 DOM3Z_HUMAN Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA. 171 identical protein binding|metal ion binding|nucleotide binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 7 CCTCTGGGCCCGAGCGTTCGGT 0.589000 805 12 0 0 6.4e-05 0 0 NBEAL1 65065 broad.mit.edu 37 2 204066370 204066371 + Missense_Mutation DNP GG TT TT TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr2:204066370_204066371GG>TT uc002uzt.3 + 48 7589_7590 c.7256_7257GG>TT c.(7255-7257)tgg>tTT p.W2419F NBEAL1_uc021vvj.1_Missense_Mutation_p.W1053F NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA. 2419 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 GCTGGATACTGGGATAATAGCA 0.396000 349 8 0 0 6.4e-05 0 0 ANKRD27 84079 broad.mit.edu 37 19 33135320 33135321 + Nonsense_Mutation DNP CC AA AA TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:33135320_33135321CC>AA uc002ntn.1 - 4 591_592 c.435_436GG>TT c.(433-438)ttggga>ttTTga p.145_146LG>F* ANKRD27_uc002nto.1_Nonsense_Mutation_p.145_146LG>F* NM_032139 NP_115515 Q96NW4 ANR27_HUMAN Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA. 145 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) GAGTGTCTTCCCAAGAACTCTC 0.500000 339 10 0 0 6.4e-05 0 0 FKBPL 63943 broad.mit.edu 37 6 32097440 32097441 + Silent DNP GG TT TT TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr6:32097440_32097441GG>TT uc003nzr.3 - 1 387_388 c.117_118CC>AA c.(115-120)ccccga>ccAAga p.39_40PR>PR ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Silent_p.39_40PR>PR NM_022110 NP_071393 Q9UIM3 FKBPL_HUMAN Homo sapiens FK506 binding protein like (FKBPL), mRNA. 39 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity GGAGGGTCTCGGGGCTGCTGCC 0.485000 646 13 0 0 6.4e-05 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 51 20 0 0 0.000132079 0 0 PSEN2 5664 broad.mit.edu 37 1 227083261 227083261 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:227083261C>T uc009xeo.1 + 12 1755 c.1328C>T c.(1327-1329)tCc>tTc p.S443F ADCK3_uc001hqm.1_5'Flank|PSEN2_uc009xep.1_Missense_Mutation_p.S442F|PSEN2_uc001hqk.2_Non-coding_Transcript|ADCK3_uc001hql.1_5'Flank NM_000447 NP_000438 P49810 PSN2_HUMAN Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 1, mRNA. 443 NLVRPFMDTLASHQLYI -> RKHSRFIQMN (in Ref. 3). Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity Golgi membrane|Z disc|apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm aspartic-type endopeptidase activity|protein binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1) 20 Prostate(94;0.0771) ACCCTGGCCTCCCATCAGCTC 0.542000 11 12 0 0 6.40141e-05 0 0 TBX10 347853 broad.mit.edu 37 11 67400541 67400542 + Missense_Mutation DNP GG TT TT TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:67400541_67400542GG>TT uc001omp.3 - 4 670_671 c.582_583CC>AA c.(580-585)ccccgt>ccAAgt p.R195S NM_005995 NP_005986 O75333 TBX10_HUMAN Homo sapiens T-box 10 (TBX10), mRNA. 195 anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|lung(4)|ovary(1) 7 ACGTGGAAACGGGGCTGGTAGC 0.574000 177 7 0 0 6.4e-05 0 0 HHIPL2 79802 broad.mit.edu 37 1 222712032 222712033 + Missense_Mutation DNP GG TT TT TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:222712032_222712033GG>TT uc001hnh.1 - 4 1592_1593 c.1534_1535CC>AA c.(1534-1536)cca>AAa p.P512K NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN Homo sapiens HHIP-like 2 (HHIPL2), mRNA. 512 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) ATTGAGATTTGGGGATTCACAA 0.436000 323 10 0 0 6.4e-05 0 0 DISP1 84976 broad.mit.edu 37 1 223176109 223176110 + Missense_Mutation DNP CC AA AA TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:223176109_223176110CC>AA uc001hnu.2 + 9 1696_1697 c.1370_1371CC>AA c.(1369-1371)ccc>cAA p.P457Q NM_032890 NP_116279 Q96F81 DISP1_HUMAN Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA. 457 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) CTCTTCTCTCCCACAGAGAAAG 0.465000 599 12 0 0 6.4e-05 0 0 MAP2K3 5606 broad.mit.edu 37 17 21215477 21215477 + Silent SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr17:21215477C>T uc002gys.3 + 9 1063 c.798C>T c.(796-798)ttC>ttT p.F266F MAP2K3_uc002gyt.3_Silent_p.F237F|MAP2K3_uc021tsq.1_Silent_p.F237F|MAP2K3_uc021tsr.1_Silent_p.F237F NM_145109 NP_002747 P46734 MP2K3_HUMAN Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA. 266 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) TCCTGCGGTTCCCTTACGAGT 0.672000 37 4 0 0 1.23904e-05 0 0 TAF1A 9015 broad.mit.edu 37 1 222750876 222750877 + Missense_Mutation DNP CG AT AT rs145721552 by1000genomes TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:222750876_222750877CG>AT uc009xdz.2 - 4 723_724 c.514_515CG>AT c.(514-516)cgg>ATg p.R172M TAF1A_uc001hni.2_Missense_Mutation_p.R58M|TAF1A_uc001hnj.3_Missense_Mutation_p.R172M|TAF1A_uc010pur.2_Missense_Mutation_p.R172M NM_001201536 NP_001188465 Q15573 TAF1A_HUMAN Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA. 172 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter RNA polymerase I transcription factor complex DNA binding p.R172R(2) kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1) 18 GBM - Glioblastoma multiforme(131;0.0186) TAATATTTCCCGGGAAGACGTA 0.381000 805 14 0 0 6.4e-05 0 0 KIF21B 23046 broad.mit.edu 37 1 200969662 200969662 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:200969662G>A uc001gvs.2 - 10 1858 c.1541C>T c.(1540-1542)cCc>cTc p.P514L KIF21B_uc009wzl.2_Missense_Mutation_p.P514L|KIF21B_uc001gvr.2_Missense_Mutation_p.P514L|KIF21B_uc010ppn.2_Missense_Mutation_p.P514L NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 514 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CAGGGAGTAGGGGCTCCTAGC 0.662000 33 28 0 0 0.000184323 0 0 RPL8 6132 broad.mit.edu 37 8 146017189 146017189 + Silent SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr8:146017189G>A uc003zeb.3 - 2 360 c.249C>T c.(247-249)caC>caT p.H83H RPL8_uc003zec.3_Silent_p.H83H|RPL8_uc010mgc.3_Silent_p.H83H NM_033301 NP_150644 P62917 RL8_HUMAN Homo sapiens ribosomal protein L8 (RPL8), transcript variant 2, mRNA. 83 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit rRNA binding|structural constituent of ribosome kidney(12)|lung(7)|prostate(1) 20 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.191) ACTGGCCCGTGTGAATGCCCT 0.637000 55 103 0 0 0.000147903 0 0 TBC1D10C 374403 broad.mit.edu 37 11 67177173 67177173 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:67177173G>A uc001ola.3 + 9 1318 c.1289G>A c.(1288-1290)gGg>gAg p.G430E PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_3'UTR|TBC1D10C_uc001olb.3_Non-coding_Transcript NM_198517 NP_940919 Q8IV04 TB10C_HUMAN Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA. 430 Interaction with calcineurin. intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CCCATCGAGGGGCCCCCCAGG 0.682000 15 12 0 0 0.000308642 0 0 CFI 3426 broad.mit.edu 37 4 110662164 110662164 + Missense_Mutation SNP C A A rs121964915 TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr4:110662164C>A uc011cft.2 - 13 1869 c.1661G>T c.(1660-1662)tGg>tTg p.W554L CFI_uc003hzq.3_Missense_Mutation_p.W343L|CFI_uc003hzr.4_Missense_Mutation_p.W546L NM_000204 NP_000195 P05156 CFAI_HUMAN Homo sapiens complement factor I (CFI), mRNA. 546 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) GTTTTCCCCCCAACTCACAAC 0.458000 172 120 7.61515e-48 2.23391e-46 0.000147903 1 0 DNAJC5B 85479 broad.mit.edu 37 8 66992777 66992777 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr8:66992777G>A uc003xvs.1 + 4 790 c.499G>A c.(499-501)Gaa>Aaa p.E167K DNAJC5B_uc003xvt.1_Non-coding_Transcript NM_033105 NP_149096 Q9UF47 DNJ5B_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA. 167 protein folding membrane heat shock protein binding|unfolded protein binding endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) GTCTGACATGGAAAAAGGTGG 0.542000 10 4 0 0 1.23904e-05 0 0 SPTB 6710 broad.mit.edu 37 14 65269006 65269006 + Silent SNP T C C TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr14:65269006T>C uc001xht.3 - 3 555 c.504A>G c.(502-504)gaA>gaG p.E168E SPTB_uc001xhr.3_Silent_p.E168E|SPTB_uc001xhs.3_Silent_p.E168E|SPTB_uc001xhu.3_Silent_p.E168E NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 168 Actin-binding. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TTTCACGACCTTCCTGAGTTT 0.532000 OREG0022735 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 12 0 0 0.00010058 0 0 LRRC28 123355 broad.mit.edu 37 15 99828120 99828120 + Nonsense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr15:99828120C>T uc002bva.1 + 4 504 c.349C>T c.(349-351)Cga>Tga p.R117* LRRC28_uc010urs.1_Non-coding_Transcript|LRRC28_uc002bvb.1_5'UTR|LRRC28_uc010urt.1_5'UTR|LRRC28_uc002bvc.1_Nonsense_Mutation_p.R117*|LRRC28_uc010uru.1_Nonsense_Mutation_p.R117*|LRRC28_uc002bvd.1_Intron NM_144598 NP_653199 Q86X40 LRC28_HUMAN Homo sapiens leucine rich repeat containing 28 (LRRC28), mRNA. 117 endometrium(2)|large_intestine(3)|lung(6)|prostate(1) 12 Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00106) ACGTCATCTTCGATTAGCTAA 0.373000 60 33 0 0 0.00058488 0 0 C15orf2 23742 broad.mit.edu 37 15 24923711 24923711 + Silent SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr15:24923711C>T uc001ywo.3 + 0 3171 c.2697C>T c.(2695-2697)tcC>tcT p.S899S NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 899 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TCTCTCATTCCACACTTGGGG 0.498000 23 61 0 0 0.000147903 0 0 SERINC3 10955 broad.mit.edu 37 20 43142583 43142583 + Silent SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr20:43142583G>A uc002xme.3 - 1 272 c.138C>T c.(136-138)ctC>ctT p.L46L SERINC3_uc002xmf.1_Silent_p.L46L|SERINC3_uc010ggs.1_Silent_p.L39L|SERINC3_uc010zwp.1_5'UTR NM_198941 NP_945179 Q13530 SERC3_HUMAN Homo sapiens serine incorporator 3 (SERINC3), transcript variant 2, mRNA. 46 integral to membrane|plasma membrane protein binding endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) TGCTCAGGAGGAGAATGAAAG 0.438000 64 28 0 0 0.000117367 0 0 ATP11A 23250 broad.mit.edu 37 13 113508685 113508685 + Missense_Mutation SNP C T T rs139917817 TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr13:113508685C>T uc001vsj.4 + 18 2172 c.2084C>T c.(2083-2085)gCg>gTg p.A695V ATP11A_uc001vsi.4_Missense_Mutation_p.A695V|ATP11A_uc001vsm.1_Missense_Mutation_p.A571V|ATP11A_uc010ago.3_Non-coding_Transcript NM_032189 NP_115565 P98196 AT11A_HUMAN Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA. 695 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) GAGACGGCCGCGGCCACGTGC 0.622000 43 6 0 0 3.59834e-05 0 0 GCK 2645 broad.mit.edu 37 7 44189377 44189377 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr7:44189377C>T uc003tkl.2 - 5 1131 c.661G>A c.(661-663)Gag>Aag p.E221K GCK_uc003tkj.1_Missense_Mutation_p.E220K|GCK_uc003tkk.1_Missense_Mutation_p.E222K NM_000162 NP_000153 P35557 HXK4_HUMAN Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA. 221 E -> K (in MODY2). cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding p.C221C(1) central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 ATGCCGACCTCGCACTGATGG 0.567000 239 141 0 0 0.000147903 0 0 BV13S6J2.1 0 broad.mit.edu 37 7 142180667 142180667 + Silent SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr7:142180667C>T uc011krz.2 - 1 241 c.192G>A c.(190-192)ctG>ctA p.L64L TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Silent_p.L64L|BV13S6J2.1_uc022anl.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; AGTAATGAATCAGCCTCAGCC 0.517000 240 28 0 0 0.000147903 0 0 PEAR1 375033 broad.mit.edu 37 1 156873722 156873722 + Missense_Mutation SNP T A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:156873722T>A uc001fqj.1 + 1 120 c.4T>A c.(4-6)Tca>Aca p.S2T PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA. 2 integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTCTGCAATGTCACCGCCTCT 0.637000 80 49 0 0 0.000147903 0 0 MUC16 94025 broad.mit.edu 37 19 9074565 9074565 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:9074565G>A uc002mkp.3 - 2 13085 c.12881C>T c.(12880-12882)tCc>tTc p.S4294F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4296 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTGGTCTCGGAGGAGCCAAA 0.527000 31 23 0 0 0.000375601 0 0 PCDHB2 56133 broad.mit.edu 37 5 140474556 140474556 + Missense_Mutation SNP T C C TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr5:140474556T>C uc003lil.3 + 0 320 c.182T>C c.(181-183)cTt>cCt p.L61P PCDHB2_uc003lim.1_Intron NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN Homo sapiens protocadherin beta 2 (PCDHB2), mRNA. 61 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATAGGAGAACTTGCTGTGAGG 0.502000 9 29 0 0 0.000184323 0 0 MATN2 4147 broad.mit.edu 37 8 99030221 99030222 + Splice_Site DNP GG TT TT TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr8:99030221_99030222GG>TT uc003yic.3 + 12 1928 c.1697_splice c.e12-1 p.R566_splice MATN2_uc010mbh.1_Splice_Site_p.R525_splice|MATN2_uc003yid.3_Splice_Site_p.R566_splice|MATN2_uc003yie.1_Splice_Site_p.R566_splice|MATN2_uc010mbi.1_Splice_Site_p.R399_splice NM_002380 NP_002371 O00339 MATN2_HUMAN Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA. 566 EGF-like 9. proteinaceous extracellular matrix calcium ion binding p.?(2) breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) CCTGTCTTCAGGGAAAGATGTC 0.470000 466 12 0 0 6.4e-05 0 0 CEACAM5 1048 broad.mit.edu 37 19 42213851 42213851 + Missense_Mutation SNP C T T rs150911810 byFrequency TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:42213851C>T uc002orl.3 + 1 438 c.317C>T c.(316-318)tCc>tTc p.S106F CEACAM5_uc010ehz.1_Missense_Mutation_p.S106F|CEACAM5_uc002orj.1_Missense_Mutation_p.S106F NM_004363 NP_004354 P06731 CEAM5_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA. 106 Ig-like 1. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CCCAATGCATCCCTGCTGATC 0.468000 95 74 0 0 0.000147903 0 0 GPR65 8477 broad.mit.edu 37 14 88477401 88477401 + Nonsense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr14:88477401G>A uc021rxh.1 + 0 210 c.210G>A c.(208-210)tgG>tgA p.W70* GPR65_uc001xvv.3_Nonsense_Mutation_p.W70* NM_003608 NP_003599 Q8IYL9 PSYR_HUMAN Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA. 70 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 TCCCTTTATGGATTGATTATA 0.393000 81 56 0 0 0.000147903 0 0 LRFN1 57622 broad.mit.edu 37 19 39805548 39805548 + Silent SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:39805548G>A uc002okw.2 - 0 429 c.429C>T c.(427-429)atC>atT p.I143I NM_020862 NP_065913 Q9P244 LRFN1_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA. 143 cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) TGTTTCCAAGGATCAGGTGGC 0.687000 11 7 0 0 8.12818e-05 0 0 FAT3 120114 broad.mit.edu 37 11 92533599 92533600 + Missense_Mutation DNP GG TT TT TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:92533599_92533600GG>TT uc001pdj.4 + 8 7437_7438 c.7420_7421GG>TT c.(7420-7422)ggg>TTg p.G2474L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 2474 Cadherin 22. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGTCTCTGATGGGTTGTTCACC 0.500000 TCGA Ovarian(4;0.039) 535 9 0 0 6.4e-05 0 0 CXorf22 170063 broad.mit.edu 37 X 35985897 35985897 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chrX:35985897C>T uc004ddj.3 + 9 1828 c.1762C>T c.(1762-1764)Ccc>Tcc p.P588S CXorf22_uc010ngv.3_Non-coding_Transcript NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA. 588 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 ATTAGCCTTTCCCAATGACCG 0.403000 4 13 0 0 0.000422831 0 0 KCNJ18 100134444 broad.mit.edu 37 17 21318660 21318660 + Silent SNP C T T rs148939916 byFrequency TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr17:21318660C>T uc021tss.1 + 2 376 c.6C>T c.(4-6)acC>acT p.T2T KCNJ18_uc002gyv.1_Silent_p.T2T|KCNJ18_uc021tst.1_Silent_p.T2T NM_001194958 NP_001181887 B7U540 IRK18_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA. 2 integral to membrane inward rectifier potassium channel activity CCGGGATGACCGCGGCCAGCC 0.697000 23 9 0 0 0.000274275 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516849 140516849 + Silent SNP C A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr5:140516849C>A uc003liq.3 + 0 2050 c.1833C>A c.(1831-1833)ccC>ccA p.P611P NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN Homo sapiens protocadherin beta 5 (PCDHB5), mRNA. 611 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCACGGAGCCCGGGCTGTTCA 0.701000 18 62 1.74971e-23 5.05342e-22 0.000147903 1 0 NRXN3 9369 broad.mit.edu 37 14 79270122 79270122 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr14:79270122G>A uc001xun.3 + 5 1576 c.1085G>A c.(1084-1086)cGt>cAt p.R362H NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.R496H NM_004796 NP_004787 Q9HDB5 NRX3B_HUMAN Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA. 140 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GACACCCTGCGTCTGGAGCTG 0.552000 42 29 0 0 0.000184323 0 0 COL4A2 1284 broad.mit.edu 37 13 111147731 111147731 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr13:111147731G>A uc001vqx.3 + 39 3966 c.3677G>A c.(3676-3678)gGg>gAg p.G1226E NM_001846 NP_001837 P08572 CO4A2_HUMAN Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA. 1226 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGCCCTCCTGGGGAAAGAGGT 0.567000 51 29 0 0 0.000117367 0 0 PIAS3 10401 broad.mit.edu 37 1 145578322 145578322 + Silent SNP C A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:145578322C>A uc001eoc.1 + 1 376 c.285C>A c.(283-285)ccC>ccA p.P95P PIAS3_uc010oyy.1_Silent_p.P86P|PIAS3_uc001eod.1_5'Flank NM_006099 NP_006090 Q9Y6X2 PIAS3_HUMAN Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA. 95 Pro-rich. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding p.G95C(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTCTAGCTCCCATTCCCCCAA 0.657000 57 50 3.81248e-40 1.11257e-38 0.000147903 1 0 GK2 2712 broad.mit.edu 37 4 80328222 80328222 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr4:80328222C>T uc003hlu.3 - 0 1151 c.1133G>A c.(1132-1134)gGg>gAg p.G378E NM_033214 NP_149991 Q14410 GLPK2_HUMAN Homo sapiens glycerol kinase 2 (GK2), mRNA. 378 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity p.G378G(2) autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 ACAGAGTATCCCTCTTGCACT 0.423000 55 38 0 0 0.000228196 0 0 ANKLE1 126549 broad.mit.edu 37 19 17394647 17394647 + Silent SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:17394647C>T uc010xpn.1 + 4 1350 c.1236C>T c.(1234-1236)gtC>gtT p.V412V ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Silent_p.V358V|ANKLE1_uc010eao.1_Silent_p.V380V|ANKLE1_uc002nfy.2_Silent_p.V347V|ANKLE1_uc002nfz.2_Silent_p.V64V Q8NAG6 ANKL1_HUMAN Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA. 358 nuclear envelope large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 ACCTGCCAGTCTCCACTGTGT 0.582000 31 26 0 0 0.00047179 0 0 CORO1A 11151 broad.mit.edu 37 16 30199304 30199304 + Silent SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr16:30199304C>T uc010bzq.3 + 8 1338 c.903C>T c.(901-903)gcC>gcT p.A301A BOLA2_uc010bzb.1_Intron|CORO1A_uc002dww.3_Silent_p.A301A|CORO1A_uc002dwx.3_Silent_p.A195A|CORO1A_uc002dwy.1_3'UTR|CORO1A_uc002dwz.1_5'Flank NM_001193333 NP_009005 P31146 COR1A_HUMAN Homo sapiens coronin, actin binding protein, 1A (CORO1A), transcript variant 1, mRNA. 301 cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 9 CTTCCGAGGCCCCTTTCCTGC 0.587000 62 39 0 0 0.000319135 0 0 SLC22A10 387775 broad.mit.edu 37 11 63071674 63071674 + Silent SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:63071674C>T uc009yor.3 + 7 1588 c.1380C>T c.(1378-1380)atC>atT p.I460I SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Missense_Mutation_p.S254F NM_001039752 NP_001034841 Q63ZE4 S22AA_HUMAN Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA. 460 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TTGAACTCATCCCCACTGTTC 0.458000 71 45 0 0 0.000589545 0 0 AGAP1 116987 broad.mit.edu 37 2 236715898 236715898 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr2:236715898G>A uc002vvs.3 + 8 1571 c.973G>A c.(973-975)Gac>Aac p.D325N AGAP1_uc002vvt.3_Missense_Mutation_p.D325N|AGAP1_uc021vyp.1_Missense_Mutation_p.D325N NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA. 325 protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GAAAGGGAGCGACCCAGACAA 0.567000 13 57 0 0 0.000147903 0 0 HRASLS5 117245 broad.mit.edu 37 11 63233660 63233660 + Silent SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:63233660G>A uc001nwy.2 - 4 843 c.669C>T c.(667-669)atC>atT p.I223I HRASLS5_uc001nwz.2_Silent_p.I213I|HRASLS5_uc010rmq.1_Silent_p.I223I|HRASLS5_uc009yos.2_Non-coding_Transcript NM_054108 NP_473449 Q96KN8 HRSL5_HUMAN Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA. 223 endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 14 TGTACTGCACGATCTTGTTGA 0.517000 41 48 0 0 0.000125731 0 0 ZNF407 55628 broad.mit.edu 37 18 72346087 72346087 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr18:72346087C>T uc002llw.2 + 0 3165 c.3112C>T c.(3112-3114)Cgg>Tgg p.R1038W ZNF407_uc010xfc.2_Missense_Mutation_p.R1038W|ZNF407_uc010dqu.2_Missense_Mutation_p.R1038W|ZNF407_uc002llu.2_Missense_Mutation_p.R1037W NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA. 1038 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GCATGTAAAACGGAAACATAC 0.463000 18 57 0 0 0.000147903 0 0 HIF3A 64344 broad.mit.edu 37 19 46823707 46823707 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:46823707G>A uc002peh.3 + 8 1064 c.1033G>A c.(1033-1035)Gaa>Aaa p.E345K HIF3A_uc002peg.4_Missense_Mutation_p.E345K|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.E289K|HIF3A_uc002pej.2_Missense_Mutation_p.E276K|HIF3A_uc010xxy.2_Missense_Mutation_p.E276K|HIF3A_uc002pel.3_Missense_Mutation_p.E343K|HIF3A_uc010xxz.2_Missense_Mutation_p.E294K NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA. 345 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CAGCCAGGTGGAAGAGACCGG 0.607000 53 31 0 0 0.000109025 0 0 ADAM30 11085 broad.mit.edu 37 1 120438457 120438458 + Missense_Mutation DNP CC AA AA TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:120438457_120438458CC>AA uc001eij.3 - 0 690_691 c.502_503GG>TT c.(502-504)ggg>TTg p.G168L NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA. 168 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.G168W(2) NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) AACCTGATTCCCAAACTGCTCT 0.436000 761 12 0 0 6.4e-05 0 0 MLL3 58508 broad.mit.edu 37 7 151945151 151945151 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr7:151945151C>T uc003wla.3 - 13 2587 c.2368G>A c.(2368-2370)Gac>Aac p.D790N NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 790 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding p.S789L(1) NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GAAGGCAAGTCTGAAGAAGGT 0.423000 N medulloblastoma 478 19 0 0 0.000147802 0 0 KRTAP10-11 386678 broad.mit.edu 37 21 46066862 46066862 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr21:46066862G>A uc002zfr.4 + 0 532 c.487G>A c.(487-489)Gag>Aag p.E163K TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198692 NP_941965 P60411 KR109_HUMAN Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA. 157 25 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 12 CACCTGCTCTGAGGATTCCTC 0.627000 92 65 0 0 0.000147903 0 0 ABCC5 10057 broad.mit.edu 37 3 183679345 183679345 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr3:183679345G>A uc003fmg.3 - 15 2498 c.2333C>T c.(2332-2334)gCt>gTt p.A778V ABCC5_uc011bqt.2_Missense_Mutation_p.A306V|ABCC5_uc010hxl.3_Missense_Mutation_p.A778V NM_005688 NP_005679 O15440 MRP5_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA. 778 ABC transporter 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AAAAATGGTAGCATAGTCACC 0.458000 44 27 0 0 0.000586117 0 0 FBN3 84467 broad.mit.edu 37 19 8176585 8176585 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:8176585G>A uc002mjf.3 - 30 4048 c.4031C>T c.(4030-4032)tCc>tTc p.S1344F NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 1344 EGF-like 20; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GCAGCGGTAGGAGCCAGGGAC 0.647000 38 19 0 0 9.7654e-05 0 0 LRBA 987 broad.mit.edu 37 4 151850033 151850033 + Missense_Mutation SNP A G G TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr4:151850033A>G uc010ipj.3 - 2 645 c.401T>C c.(400-402)gTt>gCt p.V134A LRBA_uc003ilu.4_Missense_Mutation_p.V134A|LRBA_uc010ipk.1_Missense_Mutation_p.V53A NM_006726 NP_006717 P50851 LRBA_HUMAN Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA. 134 Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CACTTTTTCAACAAGGCCTAC 0.348000 71 32 0 0 0.000132358 0 0 MUC16 94025 broad.mit.edu 37 19 9057011 9057011 + Silent SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:9057011G>A uc002mkp.3 - 2 30639 c.30435C>T c.(30433-30435)tcC>tcT p.S10145S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10147 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCATTGATGTGGAAATAGAGG 0.458000 32 19 0 0 7.07596e-05 0 0 AIPL1 23746 broad.mit.edu 37 17 6329120 6329120 + Missense_Mutation SNP C A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr17:6329120C>A uc002gcp.3 - 5 910 c.815G>T c.(814-816)cGg>cTg p.R272L AIPL1_uc021toq.1_Missense_Mutation_p.R233L|AIPL1_uc002gcq.3_Missense_Mutation_p.R212L|AIPL1_uc002gcr.3_Missense_Mutation_p.R209L|AIPL1_uc010clk.3_Missense_Mutation_p.R250L|AIPL1_uc010cll.3_Missense_Mutation_p.R248L|AIPL1_uc021tor.1_3'UTR|AIPL1_uc002gcs.3_3'UTR NM_014336 NP_055151 Q9NZN9 AIPL1_HUMAN Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA. 272 protein farnesylation|protein folding|visual perception cytoplasm|nucleus farnesylated protein binding|unfolded protein binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 12 COAD - Colon adenocarcinoma(228;0.141) TGCGTGAGCCCGGGCACGCAC 0.667000 26 17 6.94344e-10 1.94521e-08 7.07596e-05 1 0 USP6 9098 broad.mit.edu 37 17 5073801 5073801 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr17:5073801G>A uc002gau.1 + 35 5775 c.3545G>A c.(3544-3546)gGa>gAa p.G1182E USP6_uc002gav.1_Missense_Mutation_p.G1182E|USP6_uc010ckz.1_Missense_Mutation_p.G865E NM_004505 NP_004496 P35125 UBP6_HUMAN Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA. 1182 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 AGAAAAAGTGGAACCAGCTGT 0.507000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 27 17 0 0 0.000132079 0 0 SLC44A4 80736 broad.mit.edu 37 6 31842556 31842557 + Missense_Mutation DNP CC AA AA TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr6:31842556_31842557CC>AA uc010jti.3 - 5 475_476 c.409_410GG>TT c.(409-411)ggg>TTg p.G137L SLC44A4_uc011dol.2_Missense_Mutation_p.G61L|SLC44A4_uc011dom.2_Intron NM_025257 NP_079533 Q53GD3 CTL4_HUMAN Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA. 137 integral to membrane|plasma membrane choline transmembrane transporter activity p.V136I(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) GAAGACTTCCCCAACAGTCTGT 0.525000 599 13 0 0 6.4e-05 0 0 COL1A1 1277 broad.mit.edu 37 17 48263002 48263002 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr17:48263002G>A uc002iqm.3 - 50 4382 c.4256C>T c.(4255-4257)aCc>aTc p.T1419I DD181999_uc021tzy.1_5'Flank NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 1419 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) CCAGGCTCCGGTGTGACTCTG 0.617000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 23 26 0 0 9.22233e-05 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529400 5529400 + Silent SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:5529400G>A uc021qcw.1 - 0 1389 c.1389C>T c.(1387-1389)tcC>tcT p.S463S HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Silent_p.S463S NM_017481 NP_059509 Q9H347 UBQL3_HUMAN Homo sapiens ubiquilin 3 (UBQLN3), mRNA. 463 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGCCGTGGGGGAAAAAGATA 0.547000 27 25 0 0 0.000586117 0 0 NAV1 89796 broad.mit.edu 37 1 201782312 201782312 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:201782312C>T uc021phi.1 + 27 5613 c.5266C>T c.(5266-5268)Cgg>Tgg p.R1756W NAV1_uc001gwu.3_Missense_Mutation_p.R1753W|NAV1_uc001gwx.3_Missense_Mutation_p.R1362W NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA. 1756 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 TGAGGACTTCCGGACCTGGTT 0.522000 45 23 0 0 9.22233e-05 0 0 MANSC1 54682 broad.mit.edu 37 12 12496107 12496107 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr12:12496107C>T uc001rai.1 - 1 400 c.142G>A c.(142-144)Gga>Aga p.G48R MANSC1_uc001raj.1_Splice_Site_p.G14_splice NM_018050 NP_060520 Q9H8J5 MANS1_HUMAN Homo sapiens MANSC domain containing 1 (MANSC1), mRNA. 48 MANSC. integral to membrane breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4) 23 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) CCTCTGATTCCCTTAGAAAGA 0.383000 65 39 0 0 0.000191422 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296431 39296431 + Silent SNP A G G TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr17:39296431A>G uc010cxk.2 - 0 309 c.309T>C c.(307-309)acT>acC p.T103T NM_030976 NP_112238 Q9BYQ5 KRA46_HUMAN Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA. 99 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GACGGCAGCAAGTGGGCTGGC 0.652000 56 4 0 0 3.59834e-05 0 0 FLG 2312 broad.mit.edu 37 1 152279024 152279025 + Missense_Mutation DNP GG TT TT TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:152279024_152279025GG>TT uc001ezu.1 - 2 8373_8374 c.8337_8338CC>AA c.(8335-8340)tcccaa>tcAAaa p.Q2780K NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 2780 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGACCGTCTTGGGATGCTGAGT 0.594000 Ichthyosis 785 15 0 0 6.4e-05 0 0 XYLT1 64131 broad.mit.edu 37 16 17211549 17211549 + Silent SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr16:17211549G>A uc002dfa.3 - 10 2596 c.2511C>T c.(2509-2511)ttC>ttT p.F837F NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN Homo sapiens xylosyltransferase I (XYLT1), mRNA. 837 glycosaminoglycan biosynthetic process Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GCGCAACGAGGAATTTGGTCT 0.532000 45 21 0 0 0.000132079 0 0 LRRN2 10446 broad.mit.edu 37 1 204588913 204588913 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:204588913C>T uc021phy.1 - 0 208 c.208G>A c.(208-210)Ggc>Agc p.G70S MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.G70S|LRRN2_uc001hbf.1_Missense_Mutation_p.G70S|LRRN2_uc009xbf.1_Missense_Mutation_p.G70S|MDM4_uc001hbc.3_Intron NM_201630 NP_963924 O75325 LRRN2_HUMAN Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA. 70 cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GTCTGTGTGCCTGCGGGGAGT 0.627000 52 36 0 0 0.000191422 0 0 ATP13A5 344905 broad.mit.edu 37 3 193032880 193032880 + Missense_Mutation SNP T A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr3:193032880T>A uc011bsq.2 - 17 2039 c.2039A>T c.(2038-2040)aAa>aTa p.K680I NM_198505 NP_940907 Q4VNC0 AT135_HUMAN Homo sapiens ATPase type 13A5 (ATP13A5), mRNA. 680 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TGACTCCACTTTTTCTCTTTG 0.328000 56 31 0 0 0.00058488 0 0 IPO4 79711 broad.mit.edu 37 14 24655957 24655957 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr14:24655957C>T uc001wmv.1 - 8 1818 c.797G>A c.(796-798)cGt>cAt p.R266H IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Missense_Mutation_p.R130H|IPO4_uc001wmy.1_Missense_Mutation_p.R130H|IPO4_uc001wmz.2_Missense_Mutation_p.R266H NM_024658 NP_078934 Q8TEX9 IPO4_HUMAN Homo sapiens importin 4 (IPO4), mRNA. 266 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) GCAGAGAATACGTATGCGTAT 0.502000 34 18 0 0 0.000175454 0 0 SLC4A10 57282 broad.mit.edu 37 2 162719558 162719558 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr2:162719558C>T uc002ubx.4 + 5 936 c.752C>T c.(751-753)tCc>tTc p.S251F SLC4A10_uc010fpa.1_Missense_Mutation_p.S263F|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.S262F|SLC4A10_uc002uby.4_Missense_Mutation_p.S251F NM_001178015 NP_001171486 Q6U841 S4A10_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA. 251 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GAACCAAATTCCATGGACAAA 0.338000 12 31 0 0 0.000339439 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995638 140995638 + Silent SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chrX:140995638C>T uc004fbt.3 + 3 2772 c.2448C>T c.(2446-2448)tcC>tcT p.S816S MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.S475S NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 816 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTGTGAGCTCCTTCCCCTCCT 0.552000 HNSCC(15;0.026) 34 128 0 0 0.000147903 0 0 PRMT8 56341 broad.mit.edu 37 12 3600829 3600829 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr12:3600829G>A uc001qmf.3 + 0 405 c.38G>A c.(37-39)aGg>aAg p.R13K PRMT8_uc009zed.3_Intron|AK125333_uc001qmd.1_Intron NM_019854 NP_062828 Q9NR22 ANM8_HUMAN Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA. 13 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CTGCTCCTGAGGAGGAAAATG 0.647000 28 16 0 0 7.07596e-05 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501747 140501748 + Missense_Mutation DNP GG AA AA TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr5:140501747_140501748GG>AA uc003lip.1 + 0 167_168 c.167_168GG>AA c.(166-168)ggg>gAA p.G56E NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 56 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) CTGGGAATTGGGGAACTGGCCT 0.559000 9 18 0 0 6.4e-05 0 0 NOX1 27035 broad.mit.edu 37 X 100105231 100105231 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chrX:100105231C>T uc004egj.3 - 8 1248 c.1042G>A c.(1042-1044)Gaa>Aaa p.E348K NOX1_uc004egl.4_Missense_Mutation_p.E348K|NOX1_uc010nne.3_Missense_Mutation_p.E311K NM_007052 NP_008983 Q9Y5S8 NOX1_HUMAN Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA. 348 FAD-binding FR-type. FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation NADPH oxidase complex|cell junction|early endosome|invadopodium membrane Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 AAGAAATCTTCCTCTGGAGCA 0.468000 7 36 0 0 0.000191422 0 0 CHMP4C 92421 broad.mit.edu 37 8 82645023 82645023 + Silent SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr8:82645023C>T uc003ycl.3 + 0 336 c.162C>T c.(160-162)gcC>gcT p.A54A NM_152284 NP_689497 Q96CF2 CHM4C_HUMAN Homo sapiens charged multivesicular body protein 4C (CHMP4C), mRNA. 54 Intramolecular interaction with C- terminus (By similarity). cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1) 10 TCGCCCTGGCCAAGAAGCACG 0.602000 14 13 0 0 0.000219431 0 0 SERPINB11 89778 broad.mit.edu 37 18 61390507 61390507 + Silent SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr18:61390507G>A uc002ljk.4 + 8 1221 c.1050G>A c.(1048-1050)ggG>ggA p.G350G SERPINB11_uc010xes.2_Silent_p.G176G|SERPINB11_uc010dqd.3_Intron|SERPINB11_uc002ljj.4_Silent_p.G237G|SERPINB11_uc010dqe.3_Silent_p.G150G|SERPINB11_uc010dqf.3_Silent_p.G149G NM_080475 NP_536723 Q96P15 SPB11_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA. 351 RCL (By similarity). regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) CAGCCACTGGGGACAGCATCG 0.498000 6 35 0 0 0.00058488 0 0 DCST1 149095 broad.mit.edu 37 1 155011916 155011916 + Silent SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:155011916C>T uc001fgn.2 + 4 414 c.300C>T c.(298-300)atC>atT p.I100I DCST1_uc010per.2_Silent_p.I125I|DCST1_uc010pes.2_Silent_p.I75I NM_152494 NP_689707 Q5T197 DCST1_HUMAN Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA. 100 integral to membrane zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CCCCTCACATCCGCTGTGCCA 0.602000 64 59 0 0 0.000147903 0 0 ZNF215 7762 broad.mit.edu 37 11 6953610 6953610 + Missense_Mutation SNP A G G rs11041107 byFrequency TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:6953610A>G uc001mey.3 + 2 695 c.107A>G c.(106-108)aAc>aGc p.N36S ZNF215_uc010raw.2_Missense_Mutation_p.N36S|ZNF215_uc010rax.2_5'UTR|ZNF215_uc001mez.1_Missense_Mutation_p.N36S NM_013250 NP_037382 Q9UL58 ZN215_HUMAN Homo sapiens zinc finger protein 215 (ZNF215), mRNA. 36 N -> S (in dbSNP:rs11041107). viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) CAGGAAACCAACCCCGTCGTG 0.493000 67 29 0 0 0.000184323 0 0 GALNTL2 117248 broad.mit.edu 37 3 16264263 16264263 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr3:16264263G>A uc003car.4 + 8 2246 c.1771G>A c.(1771-1773)Gag>Aag p.E591K GALNTL2_uc003caq.4_Missense_Mutation_p.E324K|GALNTL2_uc003cas.4_Missense_Mutation_p.E121K NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA. 591 Ricin B-type lectin. Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1) 33 GGACTTCCAGGAGGTGAGTAA 0.557000 6 24 0 0 0.000375601 0 0 TCRA 0 broad.mit.edu 37 14 22694915 22694915 + Missense_Mutation SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr14:22694915G>A uc010ajp.1 + 1 151 c.106G>A c.(106-108)Gag>Aag p.E36K TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc021rpw.1_Non-coding_Transcript SubName: Full=HADV36S1; Flags: Fragment; GGTTGTCCACGAGGGAGACAC 0.438000 35 28 0 0 0.000147802 0 0 TMEM225 338661 broad.mit.edu 37 11 123755980 123755980 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:123755980C>T uc001pzi.3 - 0 361 c.153G>A c.(151-153)atG>atA p.M51I NM_001013743 NP_001013765 Q6GV28 TM225_HUMAN Homo sapiens transmembrane protein 225 (TMEM225), mRNA. 51 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 GGCAACACATCATCCAAGGAC 0.458000 57 26 0 0 0.000586117 0 0 TRPC4 7223 broad.mit.edu 37 13 38237678 38237678 + Silent SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr13:38237678G>A uc010abx.3 - 5 1798 c.1563C>T c.(1561-1563)ttC>ttT p.F521F TRPC4_uc010abv.3_Silent_p.F101F|TRPC4_uc001uwt.3_Silent_p.F521F|TRPC4_uc001uws.3_Silent_p.F521F|TRPC4_uc010tey.2_Silent_p.F521F|TRPC4_uc010abw.3_Silent_p.F348F|TRPC4_uc010aby.3_Silent_p.F521F NM_003306 NP_003297 Q9UBN4 TRPC4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA. 521 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GGCAGTATATGAATAGAAACT 0.403000 39 18 0 0 0.000132079 0 0 ZNF488 118738 broad.mit.edu 37 10 48370853 48370853 + Silent SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr10:48370853G>A uc001jex.3 + 1 483 c.321G>A c.(319-321)agG>agA p.R107R ZNF488_uc021ppx.1_Silent_p.R107R NM_153034 NP_694579 Q96MN9 ZN488_HUMAN Homo sapiens zinc finger protein 488 (ZNF488), mRNA. 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 AGCTGCCGAGGATGAAGGACC 0.662000 2 12 0 0 6.40141e-05 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19409768 19409768 + RNA SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr13:19409768G>A uc010tcj.1 - 0 c.36342C>T Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. CTTTCCAGTGGATTTACTGAC 0.388000 76 48 0 0 0.000147903 0 0 CELSR2 1952 broad.mit.edu 37 1 109803706 109803707 + Missense_Mutation DNP CG AT AT TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:109803706_109803707CG>AT uc001dxa.4 + 2 4062_4063 c.4001_4002CG>AT c.(4000-4002)ccg>cAT p.P1334H NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA. 1334 EGF-like 3; calcium-binding. Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CGTTGCACCCCGGGTGTCTGCA 0.589000 311 10 0 0 6.4e-05 0 0 SNAPC2 6618 broad.mit.edu 37 19 7986931 7986931 + Silent SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:7986931C>T uc002miw.2 + 3 442 c.384C>T c.(382-384)atC>atT p.I128I SNAPC2_uc002mix.2_Non-coding_Transcript NM_003083 NP_003074 Q13487 SNPC2_HUMAN Homo sapiens small nuclear RNA activating complex, polypeptide 2, 45kDa (SNAPC2), transcript variant 1, mRNA. 128 snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 TGCTCACCATCGCGGCCACGG 0.627000 97 63 0 0 0.000147903 0 0 PITX2 5308 broad.mit.edu 37 4 111542323 111542323 + Silent SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr4:111542323G>A uc003iaf.3 - 5 2210 c.387C>T c.(385-387)gtC>gtT p.V129V PITX2_uc003iac.3_Silent_p.V136V|PITX2_uc003iad.3_Silent_p.V129V|PITX2_uc021xqr.1_Silent_p.V129V|PITX2_uc003iae.3_Silent_p.V83V|PITX2_uc021xqs.1_Silent_p.V83V|PITX2_uc003iag.1_Silent_p.V136V NM_001204397 NP_001191326 Q99697 PITX2_HUMAN Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA. 129 Missing (in RIEG1; more than 100-fold reduction in DNA binding activity as well as no detectable transactivation activity).|V -> L (in RIEG1; more than 200% increase in transactivation activity). determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|endometrium(3)|large_intestine(1)|lung(5) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) CTCCTACCCGGACTCGGGCTT 0.612000 21 16 0 0 0.000422831 0 0 FRG1B 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A G G TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr20:29628263A>G uc010ztl.1 + 2 207 c.175A>G c.(175-177)Att>Gtt p.I59V FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.I11V Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 75 4 0 0 3.59834e-05 0 0 GGT6 124975 broad.mit.edu 37 17 4463750 4463750 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr17:4463750C>T uc010vsc.2 - 0 127 c.67G>A c.(67-69)Gag>Aag p.E23K GGT6_uc010vsb.2_5'Flank|GGT6_uc002fyd.4_Missense_Mutation_p.E23K|GGT6_uc002fyc.4_Missense_Mutation_p.E23K NM_001122890 NP_001116362 Q6P531 GGT6_HUMAN Homo sapiens gamma-glutamyltransferase 6 (GGT6), transcript variant 1, mRNA. 23 Poly-Glu. glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 ACTTCCTCCTCCGACTCCAAG 0.642000 40 31 0 0 0.000409698 0 0 GRM1 2911 broad.mit.edu 37 6 146625858 146625858 + Silent SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr6:146625858C>T uc010khw.1 + 3 1532 c.1062C>T c.(1060-1062)ttC>ttT p.F354F GRM1_uc010khv.1_Silent_p.F354F|GRM1_uc003qll.2_Silent_p.F354F|GRM1_uc011edz.1_Silent_p.F354F|GRM1_uc011eea.1_Silent_p.F354F NM_000838 NP_000829 Q13255 GRM1_HUMAN Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA. 354 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) ATGATTATTTCCTGAAACTGA 0.498000 12 30 0 0 0.000227799 0 0 PCSK5 5125 broad.mit.edu 37 9 78938053 78938053 + Silent SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr9:78938053C>T uc004akc.2 + 30 4645 c.4107C>T c.(4105-4107)gtC>gtT p.V1369V NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 634 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GCCACTGTGTCCCCTGCCATA 0.572000 2 13 0 0 0.000151284 0 0 PSMC2 5701 broad.mit.edu 37 7 103008169 103008169 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr7:103008169C>T uc003vbs.3 + 10 1245 c.1057C>T c.(1057-1059)Cac>Tac p.H353Y SLC26A5_uc003vbt.2_Intron|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|PSMC2_uc011klo.2_Missense_Mutation_p.H216Y NM_002803 NP_002794 P35998 PRS7_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 2 (PSMC2), transcript variant 1, mRNA. 353 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|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|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 21 GGGTCGGACCCACATATTTAA 0.333000 46 31 0 0 0.000279167 0 0 CATSPERB 79820 broad.mit.edu 37 14 92157878 92157878 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr14:92157878C>T uc001xzs.1 - 9 993 c.853G>A c.(853-855)Ggt>Agt p.G285S NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA. 285 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) CTTTCAAAACCACAAAAGTCT 0.328000 117 81 0 0 0.000147903 0 0 RPL13AP6 644511 broad.mit.edu 37 10 112696659 112696659 + Silent SNP A G G TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr10:112696659A>G uc010qrh.1 - 0 355 c.333T>C c.(331-333)ccT>ccC p.P111P SHOC2_uc001kzl.4_Intron|SHOC2_uc009xxx.3_Intron|SHOC2_uc010qrg.2_Intron Homo sapiens ribosomal protein L13a pseudogene 6 (RPL13AP6), non-coding RNA. p.P111P(1) TCTTGTCGTAAGGCGGTGGGA 0.577000 9 3 0 0 1.23904e-05 0 0 MMP2 4313 broad.mit.edu 37 16 55522457 55522457 + Silent SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr16:55522457C>T uc002ehz.4 + 5 1146 c.835C>T c.(835-837)Ctg>Ttg p.L279L MMP2_uc010vhd.2_Silent_p.L203L|MMP2_uc010ccc.3_Silent_p.L229L NM_004530 NP_004521 P08253 MMP2_HUMAN Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA. 279 Collagen-binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) ACCCTTAGCCCTGTTCACCAT 0.602000 12 8 0 0 0.000274275 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138764565 138764565 + Silent SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr7:138764565C>T uc003vun.3 - 3 1510 c.1122G>A c.(1120-1122)aaG>aaA p.K374K ZC3HAV1_uc003vuo.3_5'Flank|ZC3HAV1_uc003vup.3_Silent_p.K374K NM_020119 NP_064504 Q7Z2W4 ZCCHV_HUMAN Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA. 374 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 AAAACACAGTCTTTCTCCTGG 0.542000 67 53 0 0 0.000147903 0 0 SLC5A3 6526 broad.mit.edu 37 21 35468710 35468711 + Missense_Mutation DNP CG AT AT TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr21:35468710_35468711CG>AT uc021wir.1 + 0 1213_1214 c.1213_1214CG>AT c.(1213-1215)cgg>ATg p.R405M SLC5A3_uc002yto.3_Missense_Mutation_p.R405M|MRPS6_uc002ytp.2_Intron NM_006933 NP_008864 P53794 SC5A3_HUMAN Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA. 405 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 CGCAAGCTCCCGGGAGTTAATG 0.475000 693 13 0 0 6.4e-05 0 0 FLG 2312 broad.mit.edu 37 1 152280936 152280937 + Missense_Mutation DNP CG AT AT TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:152280936_152280937CG>AT uc001ezu.1 - 2 6461_6462 c.6425_6426CG>AT c.(6424-6426)ccg>cAT p.P2142H NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 2142 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCTTGGCCCCGGGTGTCCACG 0.574000 Ichthyosis 449 8 0 0 6.4e-05 0 0 UNC5D 137970 broad.mit.edu 37 8 35647892 35647892 + Silent SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr8:35647892C>T uc003xjr.2 + 16 3001 c.2673C>T c.(2671-2673)ttC>ttT p.F891F UNC5D_uc003xjs.2_Silent_p.F886F|UNC5D_uc003xju.2_Silent_p.F467F|UNC5D_uc022atw.1_5'Flank NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA. 891 Death. apoptosis|axon guidance integral to membrane receptor activity p.S890R(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TATCTTATTTCGCTACACAAA 0.393000 55 41 0 0 0.000509022 0 0 MAGEA12 4111 broad.mit.edu 37 X 151896231 151896231 + RNA SNP A G G TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chrX:151896231A>G uc004fgb.3 - 3 c.548T>C P43365 MAGAC_HUMAN Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) GAGTGGCTGGATAGTGTTGGC 0.517000 17 7 0 0 0.000566183 0 0 SALL4 57167 broad.mit.edu 37 20 50406909 50406909 + Missense_Mutation SNP A T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr20:50406909A>T uc002xwh.4 - 1 2214 c.2113T>A c.(2113-2115)Tcc>Acc p.S705T SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA. 705 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ACCTTGGAGGAGCTGCTGGGA 0.597000 31 18 0 0 0.000175454 0 0 CCNE2 9134 broad.mit.edu 37 8 95893939 95893940 + Missense_Mutation DNP CC AA AA rs66572393 TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr8:95893939_95893940CC>AA uc003yhc.3 - 11 1239_1240 c.1135_1136GG>TT c.(1135-1137)ggg>TTg p.G379L NM_057749 NP_477097 O96020 CCNE2_HUMAN Homo sapiens cyclin E2 (CCNE2), mRNA. 379 G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(36;8.75e-07) CAACTGTCCCCCTTTTCTGAAG 0.396000 692 13 0 0 6.4e-05 0 0 SERPINA3 12 broad.mit.edu 37 14 95088748 95088748 + Nonsense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr14:95088748C>T uc001ydp.3 + 3 1147 c.988C>T c.(988-990)Cag>Tag p.Q330* SERPINA3_uc001ydo.4_Nonsense_Mutation_p.Q355*|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Nonsense_Mutation_p.Q330*|SERPINA3_uc001yds.3_Nonsense_Mutation_p.Q330* NM_001085 NP_001076 P01011 AACT_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA. 330 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) CATACTTCTCCAGCTGGGCAT 0.488000 42 27 0 0 0.000227799 0 0 TEX15 56154 broad.mit.edu 37 8 30705724 30705724 + Silent SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr8:30705724G>A uc003xil.3 - 0 810 c.810C>T c.(808-810)atC>atT p.I270I NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN Homo sapiens testis expressed 15 (TEX15), mRNA. 270 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CTATTGGACTGATTTTTGTTT 0.313000 14 43 0 0 0.000270559 0 0 SENP2 59343 broad.mit.edu 37 3 185337190 185337191 + Missense_Mutation DNP GG TT TT TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr3:185337190_185337191GG>TT uc003fpn.3 + 12 1517_1518 c.1346_1347GG>TT c.(1345-1347)ggg>gTT p.G449V SENP2_uc011brv.2_Missense_Mutation_p.G439V|SENP2_uc011brw.2_Missense_Mutation_p.G262V NM_021627 NP_067640 Q9HC62 SENP2_HUMAN Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA. 449 Protease. Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport cytoplasm|nuclear membrane|nuclear pore SUMO-specific protease activity|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3) 12 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) TTAAAGTCTGGGGGTTACCAAG 0.386000 555 10 0 0 6.4e-05 0 0 CDR1 1038 broad.mit.edu 37 X 139865915 139865915 + Nonsense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chrX:139865915C>T uc004fbg.1 - 0 809 c.617G>A c.(616-618)tGg>tAg p.W206* AK054921_uc004fbf.1_Non-coding_Transcript NM_004065 NP_004056 P51861 CDR1_HUMAN Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA. 206 5 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) GGAAAAAATCCAGGTCTTCCA 0.448000 24 75 0 0 0.000147903 0 0 LPHN3 23284 broad.mit.edu 37 4 62813993 62813993 + Splice_Site SNP A G G TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr4:62813993A>G uc010ihh.3 + 14 2774 c.2601_splice c.e14+1 p.K867_splice LPHN3_uc003hcq.4_Splice_Site_p.K867_splice|LPHN3_uc003hct.3_Splice_Site_p.K260_splice NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN Homo sapiens latrophilin 3 (LPHN3), mRNA. 854 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 GTGGAAGTTAAGGTAAGATAT 0.343000 26 18 0 0 9.7654e-05 0 0 FCRL1 115350 broad.mit.edu 37 1 157771705 157771705 + Splice_Site SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:157771705C>T uc001frg.3 - 5 999 c.886_splice c.e5+1 p.V296_splice FCRL1_uc001frf.3_Splice_Site|FCRL1_uc001frh.3_Splice_Site_p.V296_splice|FCRL1_uc001fri.3_Splice_Site_p.G296_splice|FCRL1_uc001frj.3_Splice_Site NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA. 296 integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TGAGCTATACCTGTGAAGTTG 0.552000 47 39 0 0 0.000437636 0 0 VWA7 80737 broad.mit.edu 37 6 31744326 31744326 + Silent SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr6:31744326G>A uc011dog.2 - 1 469 c.231C>T c.(229-231)ttC>ttT p.F77F VWA7_uc003nxd.2_5'UTR|VWA7_uc011doh.1_Non-coding_Transcript NM_025258 NP_079534 Q9Y334 G7C_HUMAN Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA. 77 extracellular region TGCTCACCAGGAAGTCCTCAA 0.622000 103 107 0 0 0.000147903 0 0 CPQ 10404 broad.mit.edu 37 8 97797463 97797463 + Missense_Mutation SNP G T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr8:97797463G>T uc003yhw.3 + 1 504 c.338G>T c.(337-339)tGg>tTg p.W113L CPQ_uc010mbe.2_Missense_Mutation_p.W113L NM_016134 NP_057218 Q9Y646 PGCP_HUMAN Homo sapiens plasma glutamate carboxypeptidase (PGCP), mRNA. 113 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity ATACCCCACTGGGAGAGGGGA 0.498000 52 17 3.99206e-14 1.12967e-12 9.7654e-05 1 0 CACNB2 783 broad.mit.edu 37 10 18828608 18828608 + Silent SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr10:18828608G>A uc001ipr.2 + 13 1998 c.1938G>A c.(1936-1938)cgG>cgA p.R646R CACNB2_uc001ipt.2_Silent_p.R608R|CACNB2_uc009xjz.1_Silent_p.R396R|CACNB2_uc001ips.2_Silent_p.R622R|CACNB2_uc001ipu.3_Silent_p.R618R|CACNB2_uc001ipv.3_Silent_p.R594R|CACNB2_uc009xka.2_Silent_p.R580R|CACNB2_uc001ipw.2_Silent_p.R553R|CACNB2_uc001ipx.2_Silent_p.R591R|CACNB2_uc001ipz.2_Silent_p.R568R|CACNB2_uc001ipy.2_Silent_p.R592R|CACNB2_uc010qco.1_Silent_p.R560R|CACNB2_uc001iqa.2_Silent_p.R598R|NSUN6_uc001iqb.3_Intron NM_201596 NP_963890 Q08289 CACB2_HUMAN Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA. 646 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CAAAAAAACGGAATGAGGCTG 0.423000 40 25 0 0 0.000279167 0 0 GPAA1 8733 broad.mit.edu 37 8 145139185 145139185 + Silent SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr8:145139185C>T uc003zax.3 + 5 875 c.765C>T c.(763-765)ttC>ttT p.F255F GPAA1_uc003zav.1_Silent_p.F133F|GPAA1_uc003zaw.1_Silent_p.F195F NM_003801 NP_003792 O43292 GPAA1_HUMAN Homo sapiens glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast) (GPAA1), mRNA. 255 C-terminal protein lipidation|attachment of GPI anchor to protein|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2) 19 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCAATCTCTTCCAGACCTTCT 0.642000 47 57 0 0 0.000147903 0 0 PEX5L 51555 broad.mit.edu 37 3 179593214 179593214 + Missense_Mutation SNP C T T rs143237596 TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr3:179593214C>T uc003fki.1 - 5 687 c.557G>A c.(556-558)cGa>cAa p.R186Q PEX5L_uc011bqd.1_Missense_Mutation_p.R143Q|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_Missense_Mutation_p.R78Q|PEX5L_uc003fkj.1_Missense_Mutation_p.R151Q|PEX5L_uc010hxd.1_Missense_Mutation_p.R184Q|PEX5L_uc011bqg.1_Missense_Mutation_p.R162Q|PEX5L_uc011bqh.1_Missense_Mutation_p.R127Q NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA. 186 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding p.R186R(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) CTTGGTATTTCGATCTCCATG 0.448000 47 32 0 0 0.000339439 0 0 ZNF408 79797 broad.mit.edu 37 11 46726807 46726807 + Silent SNP C A A rs148867575 TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:46726807C>A uc001nde.2 + 4 1838 c.1557C>A c.(1555-1557)acC>acA p.T519T ZNF408_uc010rgw.2_Silent_p.T511T NM_024741 NP_079017 Q9H9D4 ZN408_HUMAN Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA. 519 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding p.H518H(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GGCTCCACACCGGGGAGCGTC 0.637000 33 36 2.28855e-06 6.34788e-05 0.000132358 1 0 ITGAL 3683 broad.mit.edu 37 16 30522249 30522249 + Silent SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr16:30522249G>A uc002dyi.4 + 22 2843 c.2667G>A c.(2665-2667)ggG>ggA p.G889G ITGAL_uc002dyj.4_Silent_p.G805G|ITGAL_uc010vev.2_Silent_p.G123G NM_002209 NP_002200 P20701 ITAL_HUMAN Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA. 889 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex cell adhesion molecule binding|receptor activity p.G889W(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GCTCCTGGGGGGACTCGGTTG 0.567000 31 22 0 0 0.000295444 0 0 KDR 3791 broad.mit.edu 37 4 55956162 55956162 + Silent SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr4:55956162C>T uc003has.3 - 22 3455 c.3153G>A c.(3151-3153)cgG>cgA p.R1051R KDR_uc003hat.1_Silent_p.R1051R NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 1051 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity p.R1051Q(1) NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TATAAATATCCCGGGCCAAGC 0.413000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 49 38 0 0 0.000132358 0 0 EPPK1 83481 broad.mit.edu 37 8 144940332 144940333 + Missense_Mutation DNP GG AA AA TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr8:144940332_144940333GG>AA uc003zaa.1 - 0 7102_7103 c.7089_7090CC>TT c.(7087-7092)taccgg>taTTgg p.R2364W NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 2364 cytoplasm|cytoskeleton protein binding|structural molecule activity p.R2364Q(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TAGCCGCGCCGGTAGGCCACGT 0.688000 564 19 0 0 6.4e-05 0 0 GALNT1 2589 broad.mit.edu 37 18 33257586 33257586 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr18:33257586C>T uc010dmu.3 + 3 399 c.346C>T c.(346-348)Cct>Tct p.P116S GALNT1_uc002kyz.4_Missense_Mutation_p.P56S|GALNT1_uc002kzb.3_Missense_Mutation_p.P116S NM_020474 NP_065207 Q10472 GALT1_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA. 116 Catalytic subdomain A. protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1) 21 AGATAATCTTCCTACAACAAG 0.388000 20 48 0 0 0.000147903 0 0 ATP9A 10079 broad.mit.edu 37 20 50286611 50286611 + Silent SNP G A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr20:50286611G>A uc002xwg.1 - 12 1218 c.1218C>T c.(1216-1218)ctC>ctT p.L406L ATP9A_uc010gih.1_Silent_p.L270L|ATP9A_uc002xwf.1_Intron NM_006045 NP_006036 O75110 ATP9A_HUMAN Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA. 406 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TTCCGAGATGGAGCCGTTTGA 0.453000 67 41 0 0 0.000509022 0 0 PARP4 143 broad.mit.edu 37 13 25044068 25044068 + Silent SNP G A A rs146166448 by1000genomes TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr13:25044068G>A uc001upl.3 - 15 2116 c.2010C>T c.(2008-2010)ttC>ttT p.F670F PARP4_uc010tdc.2_Silent_p.F670F NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA. 670 VIT. DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) TGAAGGCTTCGAAGCCACACA 0.458000 27 23 0 0 0.000184323 0 0 CRYM 1428 broad.mit.edu 37 16 21273402 21273402 + Missense_Mutation SNP G T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr16:21273402G>T uc002dim.3 - 7 1049 c.751C>A c.(751-753)Cag>Aag p.Q251K CRYM_uc010bwq.1_Non-coding_Transcript|CRYM_uc002dil.3_Missense_Mutation_p.Q209K NM_001888 NP_001014444 Q14894 CRYM_HUMAN Homo sapiens crystallin, mu (CRYM), transcript variant 1, mRNA. 251 negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport cytoplasm|nucleus|plasma membrane NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity large_intestine(1)|lung(3) 4 GBM - Glioblastoma multiforme(48;0.0573) Levothyroxine(DB00451) GCAGCCTCCTGGGAATCCACG 0.577000 28 23 6.21321e-17 1.77615e-15 0.000375601 1 0 DLGAP5 9787 broad.mit.edu 37 14 55655776 55655776 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr14:55655776C>T uc001xbs.3 - 1 339 c.122G>A c.(121-123)cGa>cAa p.R41Q DLGAP5_uc001xbt.3_Missense_Mutation_p.R41Q NM_014750 NP_055565 Q15398 DLGP5_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA. 41 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 GTGTCTATTTCGTTCGTATTC 0.353000 40 27 0 0 0.000227799 0 0 SLC5A3 6526 broad.mit.edu 37 21 35468727 35468728 + Missense_Mutation DNP GG TT TT TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr21:35468727_35468728GG>TT uc021wir.1 + 0 1230_1231 c.1230_1231GG>TT c.(1228-1233)gtgggg>gtTTgg p.G411W SLC5A3_uc002yto.3_Missense_Mutation_p.G411W|MRPS6_uc002ytp.2_Intron NM_006933 NP_008864 P53794 SC5A3_HUMAN Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA. 411 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 TAATGATTGTGGGGAGGATATT 0.470000 698 12 0 0 6.4e-05 0 0 KCNE1 3753 broad.mit.edu 37 21 35821640 35821641 + Missense_Mutation DNP CG AT AT rs150454912 TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr21:35821640_35821641CG>AT uc021wit.1 - 0 292_293 c.292_293CG>AT c.(292-294)cgg>ATg p.R98M KCNE1_uc010gmp.3_Missense_Mutation_p.R98M|KCNE1_uc002ytz.3_Missense_Mutation_p.R98M|KCNE1_uc010gmq.3_Missense_Mutation_p.R98M|KCNE1_uc010gmr.3_Missense_Mutation_p.R98M|KCNE1_uc010gms.3_Missense_Mutation_p.R98M|KCNE1_uc002yua.3_Non-coding_Transcript NM_001127670 NP_001121142 P15382 KCNE1_HUMAN Homo sapiens potassium voltage-gated channel, Isk-related family, member 1 (KCNE1), transcript variant 1, mRNA. 98 R -> W (in LQT5). blood circulation|membrane depolarization|muscle contraction|sensory perception of sound lysosome delayed rectifier potassium channel activity|potassium channel regulator activity large_intestine(4)|lung(1)|ovary(2) 7 Indapamide(DB00808) CTCCAGGACCCGGGCCTGGACA 0.550000 638 9 0 0 6.4e-05 0 0 ABCB1 5243 broad.mit.edu 37 7 87144604 87144604 + Silent SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr7:87144604C>T uc003uiz.2 - 25 3718 c.3225G>A c.(3223-3225)ggG>ggA p.G1075G ABCB1_uc011khc.2_Silent_p.G1011G NM_000927 NP_000918 P08183 MDR1_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA. 1075 ABC transporter 2. G2/M transition of mitotic cell cycle|stem cell proliferation Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CTGTGCTCTTCCCACAGCCAC 0.572000 40 18 0 0 0.000566183 0 0 PIK3CB 5291 broad.mit.edu 37 3 138403527 138403528 + Missense_Mutation DNP CG AT AT rs140578043 TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr3:138403527_138403528CG>AT uc011bmq.2 - 14 2254_2255 c.2254_2255CG>AT c.(2254-2256)cgg>ATg p.R752M PIK3CB_uc011bmn.2_Missense_Mutation_p.R264M|PIK3CB_uc011bmo.2_Missense_Mutation_p.R198M|PIK3CB_uc011bmp.2_Missense_Mutation_p.R339M NM_006219 NP_006210 P42338 PK3CB_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA. 752 G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 GAGGGCTTCCCGGTAAGCACTC 0.436000 643 12 0 0 6.4e-05 0 0 DPY19L4 286148 broad.mit.edu 37 8 95795929 95795930 + Missense_Mutation DNP GG TT TT TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr8:95795929_95795930GG>TT uc003ygx.2 + 16 1871_1872 c.1747_1748GG>TT c.(1747-1749)ggg>TTg p.G583L NM_181787 NP_861452 Q7Z388 D19L4_HUMAN Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA. 583 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) TGTGTTTGCAGGGAGTCCACAG 0.391000 575 12 0 0 6.4e-05 0 0 LIG1 3978 broad.mit.edu 37 19 48664688 48664688 + Silent SNP G T T rs3730863 TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr19:48664688G>T uc002pia.1 - 3 304 c.184C>A c.(184-186)Cgg>Agg p.R62R LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Silent_p.R62R|LIG1_uc010xzg.1_Silent_p.R32R|LIG1_uc010xzh.1_Non-coding_Transcript NM_000234 NP_000225 P18858 DNLI1_HUMAN Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA. 62 R -> W (in dbSNP:rs3730863). DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) CCCAGGACCCGGGCCGCCTTC 0.607000 Nucleotide excision repair (NER) 177 6 8.12818e-05 0.00223246 8.12818e-05 1 0 FAM47A 158724 broad.mit.edu 37 X 34150006 34150007 + Missense_Mutation DNP GG AA AA TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chrX:34150006_34150007GG>AA uc004ddg.3 - 0 441_442 c.389_390CC>TT c.(388-390)ccc>cTT p.P130L NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA. 130 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 ACATGGCCAAGGGATGCTTGGC 0.559000 18 40 0 0 6.4e-05 0 0 SLC44A4 80736 broad.mit.edu 37 6 31833650 31833651 + Splice_Site DNP CG AT AT TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr6:31833650_31833651CG>AT uc010jti.3 - 14 1553 c.1487_splice c.e14+1 p.R496_splice NEU1_uc003nxq.4_5'Flank|SLC44A4_uc011dol.2_Splice_Site_p.R420_splice|SLC44A4_uc011dom.2_Splice_Site_p.R454_splice NM_025257 NP_079533 Q53GD3 CTL4_HUMAN Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA. 496 integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) CCATCCTTACCGGAGTGTGCGG 0.604000 266 8 0 0 6.4e-05 0 0 GBP6 163351 broad.mit.edu 37 1 89846141 89846141 + Silent SNP T G G TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:89846141T>G uc001dnf.2 + 5 1096 c.822T>G c.(820-822)acT>acG p.T274T GBP6_uc010ost.1_Silent_p.T144T NM_198460 NP_940862 Q6ZN66 GBP6_HUMAN Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA. 274 GTP binding|GTPase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) ACATCTTCACTCATGCAAGAA 0.418000 14 20 0 0 0.000175454 0 0 MADD 8567 broad.mit.edu 37 11 47345360 47345360 + Missense_Mutation SNP C A A TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr11:47345360C>A uc001ner.1 + 30 4707 c.4516C>A c.(4516-4518)Cag>Aag p.Q1506K MADD_uc001neq.2_Missense_Mutation_p.Q1447K|MADD_uc001nev.1_Missense_Mutation_p.Q1404K|MADD_uc001nes.1_Missense_Mutation_p.Q1424K|MADD_uc001net.1_Missense_Mutation_p.Q1467K|MADD_uc009yln.1_Missense_Mutation_p.Q1400K|MADD_uc001neu.1_Missense_Mutation_p.Q1404K|MADD_uc001nez.2_Missense_Mutation_p.Q1403K|MADD_uc001new.2_Missense_Mutation_p.Q1446K|MADD_uc001nex.2_Missense_Mutation_p.Q1506K|MADD_uc009ylo.3_Missense_Mutation_p.Q420K NM_003682 NP_003673 Q8WXG6 MADD_HUMAN Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA. 1506 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CTCTGAGACCCAGCTCAACAA 0.463000 20 31 3.76114e-14 1.06973e-12 0.000132358 1 0 XIRP2 129446 broad.mit.edu 37 2 168099467 168099467 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr2:168099467C>T uc002udx.3 + 8 1654 c.1565C>T c.(1564-1566)tCt>tTt p.S522F XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.S347F|XIRP2_uc010fpq.3_Missense_Mutation_p.S300F|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 347 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGTGAAGTTTCTGAGATTGTT 0.328000 3 11 0 0 6.40141e-05 0 0 IQGAP1 8826 broad.mit.edu 37 15 90984786 90984786 + Missense_Mutation SNP C T T TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr15:90984786C>T uc002bpl.1 + 7 799 c.698C>T c.(697-699)cCa>cTa p.P233L NM_003870 NP_003861 P46940 IQGA1_HUMAN Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA. 233 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) CGTAGAATTCCAGCCGACACA 0.363000 32 35 0 0 0.000132358 0 0 LRP6 4040 broad.mit.edu 37 12 12274267 12274268 + Missense_Mutation DNP CC AA AA TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr12:12274267_12274268CC>AA uc001rah.4 - 22 4776_4777 c.4634_4635GG>TT c.(4633-4635)cgg>cTT p.R1545L BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R1500L NM_002336 NP_002327 O75581 LRP6_HUMAN Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA. 1545 Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) AGGTCATTCTCCGACTAGGAGC 0.535000 894 15 0 0 6.4e-05 0 0 CACNA1E 777 broad.mit.edu 37 1 181680102 181680103 + Frame_Shift_Del DEL AG - - TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr1:181680102_181680103delAG uc009wxt.3 + 7 1263_1264 c.1068_1069delAG c.(1066-1071)aaagagfs p.K356fs CACNA1E_uc001gow.3_Frame_Shift_Del_p.K356fs|CACNA1E_uc009wxs.3_Frame_Shift_Del_p.K356fs NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 356 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AATTTGCCAAAGAGAGAGAGAG 0.510 --- 113 --- --- 7 --- VRK2 7444 broad.mit.edu 37 2 58312026 58312026 + Frame_Shift_Del DEL A - - TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr2:58312026delA uc002rzo.2 + 6 942 c.197delA c.(196-198)gaafs p.E66fs VRK2_uc010fcb.2_Frame_Shift_Del_p.E66fs|VRK2_uc002rzt.3_5'UTR|VRK2_uc002rzs.3_Frame_Shift_Del_p.E66fs|VRK2_uc002rzv.3_Frame_Shift_Del_p.E66fs|VRK2_uc010fcd.3_Frame_Shift_Del_p.E43fs|VRK2_uc002rzu.3_Frame_Shift_Del_p.E66fs|VRK2_uc010fcc.3_Intron|VRK2_uc002rzp.3_Frame_Shift_Del_p.E66fs|VRK2_uc010ypg.2_Frame_Shift_Del_p.E66fs|VRK2_uc010yph.1_5'Flank NM_001130482 NP_001123954 Q86Y07 VRK2_HUMAN Homo sapiens vaccinia related kinase 2 (VRK2), transcript variant 4, mRNA. 66 Protein kinase. integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 24 GAATATCAAGAAAATGGCCCG 0.259 --- 4 --- --- 2 --- HEATR5A 25938 broad.mit.edu 37 14 31852869 31852869 + Frame_Shift_Del DEL G - - TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr14:31852869delG uc001wrf.4 - 9 1639 c.1454delC c.(1453-1455)acafs p.T485fs HEATR5A_uc010ami.3_Frame_Shift_Del_p.T90fs|HEATR5A_uc001wrg.1_Frame_Shift_Del_p.T74fs|HEATR5A_uc010tpk.1_Frame_Shift_Del_p.T485fs NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA. 479 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) CAAGAGTGGTGTTAGGTAGGA 0.473 --- 120 --- --- 77 --- PNN 5411 broad.mit.edu 37 14 39646845 39646866 + Frame_Shift_Del DEL AGAGACCTTATCCAGGATCAAA - - TCGA-D3-A3C6-06A-12D-A196-08 TCGA-D3-A3C6-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca68c70f-084b-4ecb-8a4d-3c09d20ac726 a101f798-16cc-46db-95d4-aa9850f9757e g.chr14:39646845_39646866delAGAGACCTTATCCAGGATCAAA uc001wuw.4 + 4 473_494 c.376_397delAGAGACCTTATCCAGGATCAAA c.(376-399)agagaccttatccaggatcaaaatfs p.R126fs NM_002687 NP_002678 Q9H307 PININ_HUMAN Homo sapiens pinin, desmosome associated protein (PNN), mRNA. 126 Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) GCGCACACGTAGAGACCTTATCCAGGATCAAAATATGGATGA 0.401 --- 140 --- --- 27 ---