Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut GSE1 23199 broad.mit.edu 37 16 85690012 85690012 + Silent SNP T T C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr16:85690012T>C ENST00000253458.7 + 7 1229 c.1053T>C c.(1051-1053)cgT>cgC p.R351R GSE1_ENST00000405402.2_Silent_p.R247R|GSE1_ENST00000393243.1_Silent_p.R278R NM_014615.2 NP_055430.1 Gse1 coiled-coil protein agcgtgagcgtgaggctgacc 0.667000 4 27 0 0 1 0 0 HP 3240 broad.mit.edu 37 16 72090086 72090086 + Missense_Mutation SNP T T C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr16:72090086T>C ENST00000355906.5 + 2 90 c.32T>C c.(31-33)cTg>cCg p.L11P HP_ENST00000398131.2_Missense_Mutation_p.L11P|HP_ENST00000562526.1_Missense_Mutation_p.L11P|HPR_ENST00000356967.5_Intron|HP_ENST00000569639.1_Missense_Mutation_p.L11P|HP_ENST00000570083.1_Missense_Mutation_p.L11P|HP_ENST00000565574.1_Missense_Mutation_p.L11P NM_005143.3 NP_005134.1 P00738 HPT_HUMAN haptoglobin 11 cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) ATTGCCCTCCTGCTCTGGGGA 0.547000 46 113 0 0 1 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95616453 95616453 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr7:95616453G>T ENST00000324972.6 + 9 1073 c.880G>T c.(880-882)Gac>Tac p.D294Y DYNC1I1_ENST00000457059.1_Missense_Mutation_p.D277Y|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.D274Y|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.D277Y|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.D257Y|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.D257Y NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 294 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) CACTTGTATGGACTGGTCCCT 0.428000 173 349 5.60145e-70 9.90733e-70 1 1 0 TMCC3 57458 broad.mit.edu 37 12 94975772 94975772 + Silent SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr12:94975772G>T ENST00000261226.4 - 2 752 c.621C>A c.(619-621)gcC>gcA p.A207A TMCC3_ENST00000551457.1_Silent_p.A176A NM_020698.2 NP_065749.2 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 207 integral to membrane NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 29 GGATCAGGTTGGCAAACTCTC 0.532000 82 93 7.09011e-46 1.11723e-45 1 1 0 DDX27 55661 broad.mit.edu 37 20 47841731 47841731 + Missense_Mutation SNP C C G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr20:47841731C>G ENST00000371764.4 + 6 697 c.688C>G c.(688-690)Ctg>Gtg p.L230V DDX27_ENST00000484427.1_3'UTR NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 230 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CCGCCCTCTTCTGAAGGTAGC 0.428000 86 164 0 0 1 0 0 SNAP91 9892 broad.mit.edu 37 6 84265907 84265907 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr6:84265907G>T ENST00000428679.2 - 29 3282 c.2689C>A c.(2689-2691)Cca>Aca p.P897T SNAP91_ENST00000195649.6_Missense_Mutation_p.P892T|SNAP91_ENST00000520213.1_Missense_Mutation_p.P590T|SNAP91_ENST00000369694.2_Missense_Mutation_p.P897T|SNAP91_ENST00000437520.1_Missense_Mutation_p.P590T|SNAP91_ENST00000520302.1_Missense_Mutation_p.P867T|SNAP91_ENST00000521485.1_Missense_Mutation_p.P892T|SNAP91_ENST00000439399.2_Missense_Mutation_p.P897T|SNAP91_ENST00000521743.1_Missense_Mutation_p.P897T O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 897 Pro-rich. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) TCCGCTAATGGGTCCTTTGCT 0.418000 4 1 0.00024832 0.000263523 1 1 0 OR6B1 135946 broad.mit.edu 37 7 143701707 143701707 + Silent SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr7:143701707C>A ENST00000408922.2 + 1 686 c.618C>A c.(616-618)atC>atA p.I206I NM_001005281.1 NP_001005281.1 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, member 1 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I206I(1) breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) CACTGGTCATCTTCCTATTCC 0.458000 97 228 9.47799e-51 1.55967e-50 1 1 0 PDHA2 5161 broad.mit.edu 37 4 96761818 96761818 + Missense_Mutation SNP G G C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr4:96761818G>C ENST00000295266.4 + 1 580 c.517G>C c.(517-519)Gct>Cct p.A173P NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 173 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CCCCCTGGGCGCTGGCATTGC 0.502000 58 80 0 0 1 0 0 PNO1 56902 broad.mit.edu 37 2 68388900 68388900 + Splice_Site SNP T T A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr2:68388900T>A ENST00000263657.2 + 3 532 c.e3+2 NM_020143.2 NP_064528.1 Q9NRX1 PNO1_HUMAN partner of NOB1 homolog (S. cerevisiae) nucleolus RNA binding endometrium(1)|large_intestine(1)|lung(2) 4 CAGGTGGAGGTGAGTAATTCC 0.353000 41 45 0 0 1 0 0 MDM1 56890 broad.mit.edu 37 12 68708812 68708812 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr12:68708812C>A ENST00000303145.7 - 9 1501 c.1415G>T c.(1414-1416)aGg>aTg p.R472M MDM1_ENST00000411698.2_Missense_Mutation_p.R437M|MDM1_ENST00000540418.1_Missense_Mutation_p.R192M NM_017440.4 NP_059136.2 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 472 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) GCCCGTTTTCCTGTCCCCTTC 0.478000 229 244 7.28181e-124 1.31477e-123 1 1 0 FAM180A 389558 broad.mit.edu 37 7 135418867 135418867 + Silent SNP T T A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr7:135418867T>A ENST00000338588.3 - 3 643 c.378A>T c.(376-378)acA>acT p.T126T FAM180A_ENST00000415751.1_Silent_p.T126T NM_205855.3 NP_995327.1 Q6UWF9 F180A_HUMAN family with sequence similarity 180, member A 126 extracellular region endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1) 14 GGGTCAGCACTGTCCTTTCAA 0.607000 63 124 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237586395 237586395 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr1:237586395G>T ENST00000366574.2 + 12 1169 c.852G>T c.(850-852)tgG>tgT p.W284C RYR2_ENST00000542537.1_Missense_Mutation_p.W268C|RYR2_ENST00000360064.6_Missense_Mutation_p.W282C NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 284 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCATTAGGTGGAGTGGAAGCC 0.413000 75 263 6.14238e-36 9.285e-36 1 1 0 RABEP1 9135 broad.mit.edu 37 17 5280435 5280435 + Missense_Mutation SNP T T A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr17:5280435T>A ENST00000262477.6 + 14 2274 c.2050T>A c.(2050-2052)Tac>Aac p.Y684N RABEP1_ENST00000546142.2_Missense_Mutation_p.Y684N|RABEP1_ENST00000537505.1_Missense_Mutation_p.Y641N|RABEP1_ENST00000408982.2_Missense_Mutation_p.Y684N|RABEP1_ENST00000341923.6_Missense_Mutation_p.Y684N|NUP88_ENST00000573169.1_Intron NM_004703.4 NP_004694.2 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 684 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 GGTATTAAAATACCGTGAGGA 0.408000 10 307 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31286930 31286930 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr16:31286930C>A ENST00000544665.3 + 9 990 c.919C>A c.(919-921)Ccg>Acg p.P307T ITGAM_ENST00000287497.8_Missense_Mutation_p.P307T NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 307 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 CGCATCCAAGCCGCCTCGTGA 0.517000 41 58 1.32136e-16 1.65967e-16 1 1 0 KRAS 3845 broad.mit.edu 37 12 25398262 25398262 + Missense_Mutation SNP C C G rs121913538 TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr12:25398262C>G ENST00000311936.3 - 2 248 c.57G>C c.(55-57)ttG>ttC p.L19F KRAS_ENST00000256078.4_Missense_Mutation_p.L19F|KRAS_ENST00000557334.1_Missense_Mutation_p.L19F|KRAS_ENST00000556131.1_Missense_Mutation_p.L19F NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 19 activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.L19F(15) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCTGTATCGTCAAGGCACTCT 0.358000 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 18 14 0 0 1 0 0 KCNMA1 3778 broad.mit.edu 37 10 78647081 78647081 + Silent SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr10:78647081C>A ENST00000286627.5 - 27 4432 c.3480G>T c.(3478-3480)cgG>cgT p.R1160R KCNMA1_ENST00000372443.1_Silent_p.R1187R|KCNMA1_ENST00000406533.3_Silent_p.R1222R|KCNMA1_ENST00000404771.3_Silent_p.R1218R|KCNMA1_ENST00000372440.1_Silent_p.R1160R|KCNMA1_ENST00000286628.8_Silent_p.R1218R|KCNMA1_ENST00000354353.5_Silent_p.R1221R|KCNMA1_ENST00000404857.1_Silent_p.R1201R NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 1218 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) TGGACTTGGGCCGGTTCTGTC 0.577000 136 241 8.44338e-69 1.47334e-68 1 1 0 PIK3CG 5294 broad.mit.edu 37 7 106524639 106524639 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr7:106524639G>T ENST00000359195.3 + 9 3110 c.2800G>T c.(2800-2802)Ggc>Tgc p.G934C PIK3CG_ENST00000496166.1_Missense_Mutation_p.G934C|PIK3CG_ENST00000440650.2_Missense_Mutation_p.G934C NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 934 PI3K/PI4K. G-protein coupled receptor protein 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|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 TTCCTGTGCAGGCTACTGTGT 0.368000 130 215 8.8899e-71 1.58313e-70 1 1 0 RP11-909M7.3 0 broad.mit.edu 37 14 101442834 101442834 + RNA SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr14:101442834C>A ENST00000554693.2 + 0 548 SNORD114-19_ENST00000363072.1_RNA ATAAAACTTGCTGGCATATGA 0.303000 33 150 4.34311e-12 5.1562e-12 1 1 0 INPP4B 8821 broad.mit.edu 37 4 143043280 143043280 + Splice_Site SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr4:143043280C>T ENST00000513000.1 - 22 2569 c.e22+1 INPP4B_ENST00000262992.4_Splice_Site|INPP4B_ENST00000508116.1_Splice_Site|INPP4B_ENST00000308502.4_Splice_Site|INPP4B_ENST00000509777.1_Splice_Site NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) GCACTGCTTACCGTCTTCCTG 0.413000 53 55 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70477604 70477604 + Nonsense_Mutation SNP A A T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr1:70477604A>T ENST00000310961.5 + 13 1448 c.1030A>T c.(1030-1032)Aga>Tga p.R344* LRRC7_ENST00000035383.5_Nonsense_Mutation_p.R339*|LRRC7_ENST00000415775.2_5'UTR Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 339 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AGAATTACCCAGAGAAGTGAG 0.338000 26 28 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189916108 189916108 + Nonsense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr2:189916108C>A ENST00000374866.3 - 42 3143 c.2869G>T c.(2869-2871)Gga>Tga p.G957* NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 957 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCAGCTGGTCCTCGATCTCCC 0.642000 41 70 1.47197e-15 1.82244e-15 1 1 0 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr1:155887393T>G ENST00000368320.3 - 11 1362 c.1337A>C c.(1336-1338)cAg>cCg p.Q446P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P Q7Z7F0 K0907_HUMAN KIAA0907 446 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.567000 11 90 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34640690 34640690 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr15:34640690G>T ENST00000537011.1 + 3 1003 c.621G>T c.(619-621)tgG>tgT p.W207C NUTM1_ENST00000438749.3_Missense_Mutation_p.W197C|NUTM1_ENST00000333756.4_Missense_Mutation_p.W179C NUT midline carcinoma, family member 1 AAAAAGCTTGGCCAGGGCCAC 0.587000 30 29 2.12542e-12 2.5349e-12 1 1 0 NCS1 23413 broad.mit.edu 37 9 132985014 132985014 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr9:132985014G>T ENST00000372398.3 + 5 479 c.393G>T c.(391-393)atG>atT p.M131I NCS1_ENST00000458469.1_Missense_Mutation_p.M113I NM_014286.3 NP_055101.2 P62166 NCS1_HUMAN neuronal calcium sensor 1 131 EF-hand 3. negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|protein binding large_intestine(1)|lung(4)|stomach(1) 6 TTTACCAGATGGTGGTGAGAA 0.552000 36 41 2.1956e-27 3.13657e-27 1 1 0 CDH23 64072 broad.mit.edu 37 10 73553354 73553354 + Silent SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr10:73553354G>T ENST00000224721.6 + 47 6689 c.6684G>T c.(6682-6684)ctG>ctT p.L2228L NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2223 Cadherin 21. EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 6; BAB61902). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CTGATCGCCTGGTGCCCAACC 0.577000 13 52 1.49906e-05 1.62398e-05 1 1 0 STK11 6794 broad.mit.edu 37 19 1220578 1220578 + Splice_Site SNP A A G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr19:1220578A>G ENST00000326873.7 + 5 1770 c.e5-1 NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(4) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GCACCGCCACAGGCACTGCAC 0.721000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 8 8 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25497957 25497957 + Splice_Site SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr2:25497957C>A ENST00000264709.3 - 6 830 c.e6-1 DNMT3A_ENST00000321117.5_Splice_Site NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCGGGAGCCCTAGGACAGAG 0.657000 """Mis, F, N, S""" AML 6 5 0.0215528 0.0218895 1 1 0 NUP205 23165 broad.mit.edu 37 7 135330953 135330953 + Missense_Mutation SNP A A G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr7:135330953A>G ENST00000285968.6 + 42 5886 c.5860A>G c.(5860-5862)Ata>Gta p.I1954V NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 1954 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 TGGGCTGGCTATAGTGAGCCA 0.393000 40 73 0 0 1 0 0 CACNB2 783 broad.mit.edu 37 10 18429756 18429756 + Missense_Mutation SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr10:18429756C>T ENST00000324631.7 + 1 151 c.91C>T c.(91-93)Ccc>Tcc p.P31S CACNB2_ENST00000352115.6_Missense_Mutation_p.P31S|CACNB2_ENST00000377328.1_Missense_Mutation_p.P31S|CACNB2_ENST00000467034.1_3'UTR NM_201593.2|NM_201596.2 NP_963887.2|NP_963890.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 31 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) GAACGTGGCTCCCGCGGGGGC 0.682000 6 12 0 0 1 0 0 PDCD1 5133 broad.mit.edu 37 2 242794798 242794798 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr2:242794798G>T ENST00000334409.5 - 2 480 c.411C>A c.(409-411)agC>agA p.S137R NM_005018.2 NP_005009.2 Q15116 PDCD1_HUMAN programmed cell death 1 137 Ig-like V-type. apoptosis|humoral immune response|multicellular organismal development|T cell costimulation integral to membrane protein tyrosine phosphatase activity|signal transducer activity endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1) 8 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219) CTGCCCGCAGGCTCTCTTTGA 0.687000 14 53 4.93089e-13 5.96294e-13 1 1 0 NRXN1 9378 broad.mit.edu 37 2 51254727 51254727 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr2:51254727G>T ENST00000404971.1 - 2 2024 c.685C>A c.(685-687)Ctc>Atc p.L229I NRXN1_ENST00000406316.2_Missense_Mutation_p.L229I|NRXN1_ENST00000401669.2_Missense_Mutation_p.L229I|NRXN1_ENST00000406859.3_Missense_Mutation_p.L229I|NRXN1_ENST00000402717.3_Missense_Mutation_p.L229I|NRXN1_ENST00000405581.1_Missense_Mutation_p.L229I|NRXN1_ENST00000405472.3_Missense_Mutation_p.L229I NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 229 EGF-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CCTCCGTTGAGGCACACCCCG 0.716000 8 20 1.06961e-07 1.20389e-07 1 1 0 SEC24D 9871 broad.mit.edu 37 4 119727097 119727097 + Missense_Mutation SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr4:119727097C>T ENST00000379735.5 - 7 1088 c.817G>A c.(817-819)Gag>Aag p.E273K SEC24D_ENST00000280551.6_Missense_Mutation_p.E272K|SEC24D_ENST00000419654.2_5'UTR NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 272 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 CTATCATTCTCAATCACCTGG 0.478000 43 42 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73748613 73748613 + Missense_Mutation SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr17:73748613C>T ENST00000200181.3 + 32 4250 c.4063C>T c.(4063-4065)Cgc>Tgc p.R1355C ITGB4_ENST00000449880.2_Missense_Mutation_p.R1355C|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Missense_Mutation_p.R1355C|ITGB4_ENST00000579662.1_Missense_Mutation_p.R1355C|ITGB4_ENST00000339591.3_Missense_Mutation_p.R1355C NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 1355 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TGACGTTCTACGCTCTCCATC 0.612000 162 108 0 0 1 0 0 SLC7A4 6545 broad.mit.edu 37 22 21384088 21384088 + Missense_Mutation SNP A A T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr22:21384088A>T ENST00000382932.2 - 3 1602 c.1535T>A c.(1534-1536)cTg>cAg p.L512Q SLC7A4_ENST00000403586.1_Missense_Mutation_p.L512Q NM_004173.2 NP_004164.2 O43246 CTR4_HUMAN solute carrier family 7, member 4 512 cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2) 18 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CAGGAGCAGCAGGATGTAACC 0.562000 34 22 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11751088 11751088 + Nonsense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr2:11751088G>T ENST00000381486.2 + 18 3241 c.2941G>T c.(2941-2943)Gag>Tag p.E981* GREB1_ENST00000234142.5_Nonsense_Mutation_p.E981* NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 981 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GGAGCACTTTGAGATCATCCT 0.687000 6 20 3.59834e-05 3.88202e-05 1 1 0 PCDHA5 56143 broad.mit.edu 37 5 140202447 140202447 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr5:140202447C>A ENST00000529859.1 + 1 1087 c.1087C>A c.(1087-1089)Cca>Aca p.P363T PCDHA5_ENST00000378126.3_Missense_Mutation_p.P363T|PCDHA5_ENST00000529619.1_Missense_Mutation_p.P363T|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGGACGCTCCACTCAGCAC 0.527000 69 95 2.36135e-34 3.52846e-34 1 1 0 ZNF658 26149 broad.mit.edu 37 9 40772742 40772742 + Nonsense_Mutation SNP G G A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr9:40772742G>A ENST00000602553.1 - 5 2827 c.2533C>T c.(2533-2535)Cag>Tag p.Q845* ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Nonsense_Mutation_p.Q845* Q5TYW1 ZN658_HUMAN zinc finger protein 658 845 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TGAATTCTCTGATGTGCACAG 0.438000 59 77 0 0 1 0 0 OR2C1 4993 broad.mit.edu 37 16 3406351 3406351 + Silent SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr16:3406351C>T ENST00000304936.2 + 1 463 c.411C>T c.(409-411)aaC>aaT p.N137N NM_012368.2 NP_036500.2 O95371 OR2C1_HUMAN olfactory receptor, family 2, subfamily C, member 1 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 CCATCATGAACCCCCAGCTCT 0.617000 34 90 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 99715950 99715950 + Missense_Mutation SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr11:99715950C>T ENST00000524871.1 + 6 823 c.533C>T c.(532-534)aCt>aTt p.T178I CNTN5_ENST00000527185.1_Missense_Mutation_p.T178I|CNTN5_ENST00000418526.2_Missense_Mutation_p.T104I|CNTN5_ENST00000528682.1_Missense_Mutation_p.T178I|CNTN5_ENST00000279463.3_Missense_Mutation_p.T178I NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 178 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane protein binding p.T178N(4) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GCAACCAACACTGTGGGGAGT 0.348000 76 67 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821826 5821826 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chrX:5821826C>A ENST00000381095.3 - 5 1520 c.893G>T c.(892-894)cGg>cTg p.R298L NLGN4X_ENST00000538097.1_Missense_Mutation_p.R298L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R298L|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R298L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R318L NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 298 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 TGCCAATATCCGAGTGTACTT 0.557000 25 37 8.58068e-18 1.08828e-17 1 1 0 SLC5A3 6526 broad.mit.edu 37 21 35467451 35467451 + Translation_Start_Site SNP G G A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr21:35467451G>A ENST00000381151.3 + 0 466 MRPS6_ENST00000399312.2_Intron NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 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 TAAATAAAAAGTTGGACACTT 0.423000 75 113 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222788 140222788 + Missense_Mutation SNP A A G rs149174279 TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr5:140222788A>G ENST00000531613.1 + 1 1882 c.1882A>G c.(1882-1884)Acg>Gcg p.T628A PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.T628A|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGGCTGTACACGGGCGAGAT 0.657000 4 57 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78213768 78213768 + RNA SNP C C A rs12904130 by1000genomes TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr15:78213768C>A ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA GGCGGCCAGCCAGATCCTTGG 0.542000 5 135 0.00116845 0.00121034 1 1 0 LDLRAP1 26119 broad.mit.edu 37 1 25890245 25890245 + Missense_Mutation SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr1:25890245C>T ENST00000374338.4 + 7 829 c.710C>T c.(709-711)cCg>cTg p.P237L LDLRAP1_ENST00000488127.1_3'UTR NM_015627.2 NP_056442.2 Q5SW96 ARH_HUMAN low density lipoprotein receptor adaptor protein 1 237 amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649) GACGAGGTGCCGCGGCCACAA 0.627000 4 69 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9061927 9061927 + Nonsense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr19:9061927C>A ENST00000397910.4 - 3 25722 c.25519G>T c.(25519-25521)Gag>Tag p.E8507* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8509 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 AGGGTACCCTCTGATGTAGCC 0.488000 141 124 2.93227e-69 5.15128e-69 1 1 0 CLSTN2 64084 broad.mit.edu 37 3 140275464 140275464 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr3:140275464C>A ENST00000458420.3 + 11 1974 c.1784C>A c.(1783-1785)aCg>aAg p.T595K NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 595 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding p.T595M(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CAGTTCCCAACGGCGGGTGTG 0.572000 HNSCC(16;0.037) 80 70 1.45872e-26 2.05009e-26 1 1 0 LAMA2 3908 broad.mit.edu 37 6 129759897 129759897 + Silent SNP T T A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr6:129759897T>A ENST00000421865.2 + 42 6124 c.6075T>A c.(6073-6075)gcT>gcA p.A2025A NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2025 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AGTTATCAGCTATTCCAAATG 0.358000 55 52 0 0 1 0 0 ZNF185 7739 broad.mit.edu 37 X 152087526 152087526 + Splice_Site SNP G G C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chrX:152087526G>C ENST00000535861.1 + 7 479 c.e7-1 ZNF185_ENST00000370270.1_Splice_Site|ZNF185_ENST00000318504.7_Splice_Site|ZNF185_ENST00000324823.6_Splice_Site|ZNF185_ENST00000370268.4_Splice_Site|ZNF185_ENST00000539731.1_Splice_Site|ZNF185_ENST00000449285.2_Splice_Site|ZNF185_ENST00000318529.8_Splice_Site NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) CCCTCTCTTAGGGCACCCTAC 0.557000 10 10 0 0 1 0 0 PROCR 10544 broad.mit.edu 37 20 33762727 33762727 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr20:33762727G>T ENST00000216968.4 + 2 375 c.293G>T c.(292-294)cGc>cTc p.R98L EDEM2_ENST00000540582.1_Intron NM_006404.3 NP_006395.2 Q9UNN8 EPCR_HUMAN protein C receptor, endothelial 98 antigen processing and presentation|blood coagulation|immune response integral to plasma membrane|MHC class I protein complex receptor activity p.R98L(2) breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(18;0.0152) Drotrecogin alfa(DB00055) GGCCTCGTGCGCCTGGTGCAC 0.726000 6 22 0.0215528 0.0218895 1 1 0 DCAF12L1 139170 broad.mit.edu 37 X 125685341 125685341 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chrX:125685341C>A ENST00000371126.1 - 1 1493 c.1251G>T c.(1249-1251)tgG>tgT p.W417C NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 417 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 AGTAATTCACCCAGAAATCAT 0.567000 101 69 6.23761e-45 9.76976e-45 1 1 0 MAP1A 4130 broad.mit.edu 37 15 43814037 43814037 + Silent SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr15:43814037C>T ENST00000382031.1 + 5 1111 c.1080C>T c.(1078-1080)gaC>gaT p.D360D MAP1A_ENST00000399453.1_Silent_p.D122D|MAP1A_ENST00000300231.5_Silent_p.D122D P78559 MAP1A_HUMAN microtubule-associated protein 1A 122 Lys-rich (basic). cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GTTACAGCGACTGGGTGAAGA 0.552000 20 107 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103124593 103124593 + Silent SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr2:103124593C>T ENST00000295269.4 + 5 1711 c.1254C>T c.(1252-1254)atC>atT p.I418I NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 418 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CCTTCTCCATCAAGGACCAGT 0.433000 44 184 0 0 1 0 0 CASS4 57091 broad.mit.edu 37 20 55025718 55025718 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr20:55025718C>A ENST00000371336.3 + 4 826 c.625C>A c.(625-627)Cca>Aca p.P209T CASS4_ENST00000434344.1_Missense_Mutation_p.P209T|CASS4_ENST00000360314.3_Missense_Mutation_p.P209T NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 209 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 ACTCCATCCCCCAGACAGCCA 0.498000 10 56 0.000978159 0.00101729 1 1 0 STYXL1 51657 broad.mit.edu 37 7 75630311 75630311 + Missense_Mutation SNP T T C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr7:75630311T>C ENST00000451157.1 - 8 876 c.707A>G c.(706-708)cAt>cGt p.H236R STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000248600.1_Missense_Mutation_p.H236R|STYXL1_ENST00000340062.5_Missense_Mutation_p.H140R|STYXL1_ENST00000431581.1_Missense_Mutation_p.H236R|STYXL1_ENST00000359697.3_Missense_Mutation_p.H236R Q9Y6J8 STYL1_HUMAN serine/threonine/tyrosine interacting-like 1 236 Tyrosine-protein phosphatase. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 10 GCCAAGGTGATGGTGAATTTC 0.562000 59 67 0 0 1 0 0 CCDC89 220388 broad.mit.edu 37 11 85396657 85396657 + Missense_Mutation SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr11:85396657C>T ENST00000316398.3 - 1 663 c.517G>A c.(517-519)Gag>Aag p.E173K NM_152723.1 NP_689936.1 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 173 cytoplasm|nucleus NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 15 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) ACTTTCGCCTCCTCATCCTTC 0.547000 114 105 0 0 1 0 0 RHPN2 85415 broad.mit.edu 37 19 33490586 33490586 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr19:33490586G>T ENST00000254260.3 - 10 1166 c.1131C>A c.(1129-1131)caC>caA p.H377Q RHPN2_ENST00000400226.4_Missense_Mutation_p.H226Q NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 377 BRO1. signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) ACTTCTCCTGGTGGTCCAGAT 0.572000 9 83 1.49906e-05 1.62398e-05 1 1 0 OR10A2 341276 broad.mit.edu 37 11 6891778 6891778 + Missense_Mutation SNP T T A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr11:6891778T>A ENST00000307322.4 + 1 855 c.793T>A c.(793-795)Tac>Aac p.Y265N NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) ATCATTGTCCTACACTGTTAT 0.458000 148 125 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138451499 138451499 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr4:138451499G>T ENST00000344876.4 - 1 2130 c.1744C>A c.(1744-1746)Cgt>Agt p.R582S PCDH18_ENST00000412923.2_Missense_Mutation_p.R582S|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R362S NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 582 Cadherin 6. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R582C(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GTATTATTACGCAATGCAGGC 0.463000 96 298 2.46799e-47 3.93666e-47 1 1 0 DUSP27 92235 broad.mit.edu 37 1 167095767 167095767 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr1:167095767C>A ENST00000361200.2 + 6 1565 c.1399C>A c.(1399-1401)Cgc>Agc p.R467S DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R467S|DUSP27_ENST00000271385.5_Missense_Mutation_p.R467S Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 467 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CAGGAGGCGCCGCGCAGACTC 0.652000 22 70 7.45023e-12 8.80481e-12 1 1 0 CLCN1 1180 broad.mit.edu 37 7 143047472 143047472 + Missense_Mutation SNP C C A rs146453561 TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr7:143047472C>A ENST00000343257.2 + 21 2498 c.2411C>A c.(2410-2412)gCc>gAc p.A804D NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 804 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CAGATTGAGGCCTGGGAGCAG 0.557000 21 49 1.01871e-10 1.18243e-10 1 1 0 ZNF526 116115 broad.mit.edu 37 19 42728858 42728858 + Silent SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr19:42728858G>T ENST00000301215.3 + 3 528 c.303G>T c.(301-303)gtG>gtT p.V101V NM_133444.1 NP_597701.1 Q8TF50 ZN526_HUMAN zinc finger protein 526 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3) 22 Prostate(69;0.0704) CGGAGCTGGTGCCGGGTGCTG 0.632000 85 50 1.75807e-36 2.67309e-36 1 1 0 PKD1L2 114780 broad.mit.edu 37 16 81194298 81194298 + RNA SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr16:81194298C>T ENST00000533478.1 - 0 1745 PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CTGGAGCCACCATTGGTACGA 0.527000 17 31 0 0 1 0 0 RABGGTA 5875 broad.mit.edu 37 14 24736916 24736916 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr14:24736916C>A ENST00000399409.3 - 13 1786 c.1303G>T c.(1303-1305)Gtg>Ttg p.V435L RABGGTA_ENST00000216840.6_Missense_Mutation_p.V435L|RABGGTA_ENST00000560777.1_Missense_Mutation_p.V44L NM_004581.5 NP_004572.3 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase, alpha subunit 435 visual perception Rab geranylgeranyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 12 GBM - Glioblastoma multiforme(265;0.0184) ATCTTGAGCACGCTATTCTCC 0.612000 10 31 0.000673444 0.000703195 1 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88885345 88885345 + Silent SNP C C G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr8:88885345C>G ENST00000319675.3 - 1 951 c.855G>C c.(853-855)ctG>ctC p.L285L NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 285 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 CTGATGACACCAGGAATTGGC 0.498000 71 134 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141767205 141767205 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr7:141767205G>T ENST00000475668.2 + 42 5038 c.4984G>T c.(4984-4986)Gtc>Ttc p.V1662F MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1662 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AGCCTTCCTGGTCAGCCCTGT 0.587000 35 12 7.04047e-22 9.3873e-22 1 1 0 TRAPPC9 83696 broad.mit.edu 37 8 141297729 141297729 + Silent SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr8:141297729C>A ENST00000389328.4 - 13 2267 c.2253G>T c.(2251-2253)acG>acT p.T751T TRAPPC9_ENST00000389327.3_Silent_p.T644T|TRAPPC9_ENST00000438773.2_Silent_p.T653T NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 653 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 TCGTTCCAGTCGTCTGCGGGA 0.597000 48 132 5.2432e-18 6.78225e-18 1 1 0 SYNJ2 8871 broad.mit.edu 37 6 158454651 158454651 + Missense_Mutation SNP G G A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr6:158454651G>A ENST00000355585.4 + 4 725 c.650G>A c.(649-651)cGc>cAc p.R217H SYNJ2_ENST00000367122.2_Missense_Mutation_p.R217H|SYNJ2_ENST00000449859.2_Missense_Mutation_p.R166H|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R217H NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 217 SAC. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) ACAGGCACTCGCTTCCACACC 0.622000 47 40 0 0 1 0 0 MTSS1L 92154 broad.mit.edu 37 16 70698201 70698201 + Silent SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr16:70698201C>A ENST00000338779.6 - 15 1897 c.1623G>T c.(1621-1623)ggG>ggT p.G541G FLJ00418_ENST00000597002.1_5'UTR NM_138383.2 NP_612392.1 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 541 filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1) 7 CGGTGGGCAGCCCAGCAGTGG 0.711000 5 41 0.014758 0.0151066 1 1 0 SCAF8 22828 broad.mit.edu 37 6 155123283 155123283 + Splice_Site SNP T T C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr6:155123283T>C ENST00000367178.3 + 7 1359 c.e7+2 SCAF8_ENST00000367186.4_Splice_Site|SCAF8_ENST00000417268.1_Splice_Site NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 TTTAACAAGGTAGAAATTAAA 0.333000 33 36 0 0 1 0 0 HELQ 113510 broad.mit.edu 37 4 84368014 84368014 + Missense_Mutation SNP T T C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr4:84368014T>C ENST00000295488.3 - 4 1528 c.1366A>G c.(1366-1368)Agt>Ggt p.S456G HELQ_ENST00000510985.1_Intron NM_133636.2 NP_598375.2 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 456 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 AGACCCAGACTGTCAATTCTT 0.328000 Other identified genes with known or suspected DNA repair function 111 97 0 0 1 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95439799 95439799 + Missense_Mutation SNP C C G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr7:95439799C>G ENST00000324972.6 + 3 397 c.204C>G c.(202-204)atC>atG p.I68M DYNC1I1_ENST00000457059.1_Missense_Mutation_p.I68M|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.I68M|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.I68M|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.I68M|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.I68M|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.I68M NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 68 Interaction with DCTN1 (By similarity). vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity p.I68I(1) NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) GCATTGGTATCTCACCGGAGC 0.458000 17 45 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78261710 78261710 + Silent SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr17:78261710C>T ENST00000582970.1 + 4 501 c.358C>T c.(358-360)Ctg>Ttg p.L120L RNF213_ENST00000508628.2_Silent_p.L169L|RNF213_ENST00000456466.1_Silent_p.L120L|RNF213_ENST00000319921.4_Silent_p.L120L NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 120 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CCCCTGTCACCTGACTTTGCT 0.587000 18 4 0 0 1 0 0 DUOXA1 90527 broad.mit.edu 37 15 45413003 45413003 + Splice_Site SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr15:45413003C>T ENST00000558996.1 - 4 260 c.205_splice c.e4-1 p.G69_splice DUOXA1_ENST00000558422.1_Splice_Site_p.G69_splice|DUOXA1_ENST00000559014.1_Splice_Site_p.G114_splice|DUOXA1_ENST00000430224.2_Splice_Site_p.G69_splice|DUOXA1_ENST00000560572.1_Splice_Site_p.G114_splice|DUOXA1_ENST00000267803.4_Splice_Site_p.G114_splice NM_001276267.1|NM_001276268.1 NP_001263196.1|NP_001263197.1 Q1HG43 DOXA1_HUMAN dual oxidase maturation factor 1 114 protein transport endoplasmic reticulum membrane|integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686) CACGGGGGTCCCTAGGGCACA 0.592000 101 99 0 0 1 0 0 HPGD 3248 broad.mit.edu 37 4 175439152 175439152 + Missense_Mutation SNP T T G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr4:175439152T>G ENST00000296522.6 - 3 740 c.294A>C c.(292-294)aaA>aaC p.K98N HPGD_ENST00000541923.1_Intron|HPGD_ENST00000510901.1_5'UTR|HPGD_ENST00000542498.1_Missense_Mutation_p.K98N|HPGD_ENST00000504433.1_Missense_Mutation_p.K98N|HPGD_ENST00000296521.7_Missense_Mutation_p.K98N|HPGD_ENST00000422112.2_Intron NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1 NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1 P15428 PGDH_HUMAN hydroxyprostaglandin dehydrogenase 15-(NAD) 98 female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway cytosol|nucleus 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity kidney(1)|lung(3)|prostate(3) 7 Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196) all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253) NADH(DB00157) TTTCCCAGTTTTTCTCATTAT 0.279000 10 35 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39430379 39430379 + Missense_Mutation SNP A A T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr13:39430379A>T ENST00000280481.7 + 12 7258 c.7042A>T c.(7042-7044)Ata>Tta p.I2348L NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2348 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TGAAAATATGATAGCAGAGAT 0.408000 64 59 0 0 1 0 0 TRUB1 142940 broad.mit.edu 37 10 116698112 116698112 + Missense_Mutation SNP A A C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr10:116698112A>C ENST00000298746.3 + 1 161 c.100A>C c.(100-102)Acc>Ccc p.T34P NM_139169.4 NP_631908.1 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase family member 1 34 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding p.T34P(1) breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2) 12 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) AATGGCTGCGACCCCGTCAGC 0.637000 7 21 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33412037 33412037 + Missense_Mutation SNP T T C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr2:33412037T>C ENST00000404816.2 + 6 1669 c.1316T>C c.(1315-1317)gTg>gCg p.V439A LTBP1_ENST00000390003.4_Missense_Mutation_p.V113A|LTBP1_ENST00000404525.1_Missense_Mutation_p.V113A|LTBP1_ENST00000402934.1_Missense_Mutation_p.V113A|LTBP1_ENST00000407925.1_Missense_Mutation_p.V113A|LTBP1_ENST00000418533.2_Missense_Mutation_p.V113A|LTBP1_ENST00000354476.3_Missense_Mutation_p.V439A Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 439 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GGTGCCAGCGTGCCTAAACTT 0.512000 37 53 0 0 1 0 0 SIAH1 6477 broad.mit.edu 37 16 48395996 48395996 + Missense_Mutation SNP G G C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr16:48395996G>C ENST00000380006.2 - 1 1797 c.344C>G c.(343-345)gCa>gGa p.A115G SIAH1_ENST00000356721.3_Missense_Mutation_p.A146G|SIAH1_ENST00000394725.2_Missense_Mutation_p.A115G Q8IUQ4 SIAH1_HUMAN siah E3 ubiquitin protein ligase 1 115 SBD. axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis beta-catenin destruction complex|cytosol|nucleus protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1) 7 all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238) TTCATGGTCTGCTTTTTCTGT 0.468000 46 66 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55110965 55110965 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr11:55110965G>T ENST00000314721.2 + 1 339 c.289G>T c.(289-291)Ggt>Tgt p.G97C NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 AGCTTGCATGGGTCAGCTCTT 0.448000 171 172 4.01657e-63 6.96206e-63 1 1 0 SLC28A2 9153 broad.mit.edu 37 15 45545486 45545486 + Nonsense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr15:45545486G>T ENST00000347644.3 + 2 138 c.73G>T c.(73-75)Gag>Tag p.E25* CTD-2651B20.3_ENST00000559003.1_RNA NM_004212.3 NP_004203.2 O43868 S28A2_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 2 25 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) CCCGGGGCTGGAGCTCATGGT 0.517000 18 25 1.33834e-09 1.53968e-09 1 1 0 SYNE3 161176 broad.mit.edu 37 14 95942096 95942096 + Missense_Mutation SNP C C G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr14:95942096C>G ENST00000334258.5 - 1 77 c.63G>C c.(61-63)aaG>aaC p.K21N SYNE3_ENST00000553340.1_Missense_Mutation_p.K21N|SYNE3_ENST00000557275.1_Missense_Mutation_p.K21N NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCTGCACAGCCTTCATCCATG 0.637000 6 26 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40433530 40433530 + Missense_Mutation SNP C C A rs151019238 TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr19:40433530C>A ENST00000221347.6 - 2 746 c.739G>T c.(739-741)Gcc>Tcc p.A247S NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 247 IgGFc-binding. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GTGCCCCAGGCAGACGTGGGT 0.587000 63 50 1.19403e-26 1.69644e-26 1 1 0 CECR1 51816 broad.mit.edu 37 22 17680454 17680454 + Missense_Mutation SNP T T A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr22:17680454T>A ENST00000330232.4 - 1 219 c.15A>T c.(13-15)gaA>gaT p.E5D CECR1_ENST00000449907.2_Intron|CECR1_ENST00000262607.3_Intron|CECR1_ENST00000399839.1_Intron|CECR1_ENST00000399837.2_Intron NM_177405.1 NP_803124.1 Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 0 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) CCCAGTTCCATTCCAGGGAAT 0.542000 39 40 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94069729 94069729 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr14:94069729C>A ENST00000553484.1 + 26 3873 c.3719C>A c.(3718-3720)gCg>gAg p.A1240E UNC79_ENST00000256339.4_Missense_Mutation_p.A1063E|UNC79_ENST00000555664.1_Missense_Mutation_p.A1240E|UNC79_ENST00000393151.2_Missense_Mutation_p.A1240E Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1240 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TCCAAGAGGGCGCTCTCCCTC 0.493000 22 100 2.37509e-13 2.88563e-13 1 1 0 SRMS 6725 broad.mit.edu 37 20 62174823 62174823 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr20:62174823C>A ENST00000217188.1 - 3 529 c.489G>T c.(487-489)caG>caT p.Q163H NM_080823.2 NP_543013.1 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites 163 SH2. ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1) 19 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) AGACCTTGGCCTGGGCCCGGA 0.642000 39 92 4.67007e-22 6.29128e-22 1 1 0 TUBB8P7 197331 broad.mit.edu 37 16 90161663 90161663 + RNA SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr16:90161663C>A ENST00000564451.1 + 0 1016 TUBB8P7_ENST00000567960.1_RNA TGCAGGGTTTCCAGCTGACCC 0.572000 32 77 7.53189e-24 1.03068e-23 1 1 0 GRIA4 2893 broad.mit.edu 37 11 105623773 105623773 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr11:105623773C>A ENST00000393127.2 + 4 760 c.314C>A c.(313-315)aCc>aAc p.T105N GRIA4_ENST00000530497.1_Missense_Mutation_p.T105N|GRIA4_ENST00000525187.1_Missense_Mutation_p.T105N|GRIA4_ENST00000282499.5_Missense_Mutation_p.T105N|GRIA4_ENST00000428631.2_Missense_Mutation_p.T105N|GRIA4_ENST00000393125.2_Missense_Mutation_p.T105N NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 105 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TCGGTACATACCTTGACCTCA 0.443000 78 56 1.35621e-51 2.26035e-51 1 1 0 SCAMP5 192683 broad.mit.edu 37 15 75310807 75310807 + Silent SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr15:75310807G>T ENST00000361900.6 + 7 651 c.444G>T c.(442-444)gcG>gcT p.A148A SCAMP5_ENST00000568081.1_Silent_p.A81A|SCAMP5_ENST00000562212.1_Silent_p.A156A|SCAMP5_ENST00000545456.1_Silent_p.A77A|SCAMP5_ENST00000425597.3_Silent_p.A148A NM_001178111.1 NP_001171582.1 Q8TAC9 SCAM5_HUMAN secretory carrier membrane protein 5 148 exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 5 TTGGCTCGGCGGTGGTGATGC 0.577000 148 131 9.82225e-59 1.66914e-58 1 1 0 KIAA0100 9703 broad.mit.edu 37 17 26942212 26942212 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr17:26942212C>A ENST00000528896.2 - 39 6652 c.6578G>T c.(6577-6579)gGa>gTa p.G2193V KIAA0100_ENST00000544884.1_Missense_Mutation_p.G2050V|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.G2050V|SPAG5-AS1_ENST00000554154.1_RNA NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 2193 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) TTCTAGCTTTCCCCGGACCTC 0.488000 153 89 1.26091e-62 2.17111e-62 1 1 0 KRTAP21-1 337977 broad.mit.edu 37 21 32127584 32127584 + Missense_Mutation SNP T T C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr21:32127584T>C ENST00000335093.3 - 1 162 c.113A>G c.(112-114)tAt>tGt p.Y38C NM_181619.1 NP_853650.1 Q3LI58 KR211_HUMAN keratin associated protein 21-1 38 intermediate filament breast(1)|endometrium(1)|lung(4)|urinary_tract(1) 7 cccacagccatacccacagcc 0.572000 128 264 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13659766 13659766 + Missense_Mutation SNP T T A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr3:13659766T>A ENST00000404922.3 + 6 2039 c.1920T>A c.(1918-1920)gaT>gaA p.D640E FBLN2_ENST00000535798.1_Missense_Mutation_p.D666E|FBLN2_ENST00000492059.1_Missense_Mutation_p.D640E|FBLN2_ENST00000295760.7_Missense_Mutation_p.D640E NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 640 EGF-like 1; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) TGCAGGACGATGGCCGCACTT 0.612000 37 38 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 41976690 41976690 + Missense_Mutation SNP G G A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr1:41976690G>A ENST00000372584.1 - 8 7664 c.6650C>T c.(6649-6651)aCc>aTc p.T2217I HIVEP3_ENST00000372583.1_Missense_Mutation_p.T2218I|HIVEP3_ENST00000429157.2_Missense_Mutation_p.T2217I|HIVEP3_ENST00000247584.5_Missense_Mutation_p.T2218I|HIVEP3_ENST00000460604.1_5'UTR NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 2218 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CCAGGCTGCGGTGGGCCCTGG 0.701000 58 55 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87641149 87641149 + Missense_Mutation SNP A A T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr8:87641149A>T ENST00000320005.5 - 12 1525 c.1478T>A c.(1477-1479)cTa>cAa p.L493Q NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 493 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 ATGCTTACCTAGCATTCTTTG 0.383000 100 246 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65367576 65367576 + Missense_Mutation SNP C C G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr3:65367576C>G ENST00000330909.8 - 17 2760 c.2761G>C c.(2761-2763)Gtg>Ctg p.V921L MAGI1_ENST00000497477.2_Missense_Mutation_p.V893L|MAGI1_ENST00000483466.1_Missense_Mutation_p.V921L|MAGI1_ENST00000402939.2_Missense_Mutation_p.V893L NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 921 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TTACGCCGCACCGTGAGATTG 0.478000 36 43 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125601968 125601968 + Missense_Mutation SNP A A T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr10:125601968A>T ENST00000241305.3 - 4 704 c.550T>A c.(550-552)Tgg>Agg p.W184R CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 184 F5/8 type C. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CCCGCGCACCACGCTCCGTCA 0.453000 20 76 0 0 1 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319358 21319358 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr17:21319358C>A ENST00000583088.1 + 3 1599 c.704C>A c.(703-705)cCg>cAg p.P235Q KCNJ12_ENST00000331718.5_Missense_Mutation_p.P235Q NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 p.P235L(1) NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) CTCATCAAGCCGCGGGTCACC 0.637000 Prostate(3;0.18) 7 96 3.32936e-07 3.69929e-07 1 1 0 KCNMB1 3779 broad.mit.edu 37 5 169812417 169812417 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr5:169812417C>A ENST00000274629.4 - 2 477 c.35G>T c.(34-36)gGa>gTa p.G12V KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.G12V NM_004137.3 NP_004128.1 Q16558 KCMB1_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 1 12 platelet activation|synaptic transmission calcium-activated potassium channel activity|potassium channel regulator activity endometrium(1)|large_intestine(1)|lung(7)|ovary(2) 11 Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.175) TCGTGTCTCTCCCCGCTTCTG 0.542000 35 50 2.09667e-21 2.76717e-21 1 1 0 THSD4 79875 broad.mit.edu 37 15 72050253 72050253 + Missense_Mutation SNP T T G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr15:72050253T>G ENST00000355327.3 + 15 2562 c.2428T>G c.(2428-2430)Tgt>Ggt p.C810G THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.C450G|THSD4_ENST00000261862.6_Missense_Mutation_p.C810G Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 810 TSP type-1 4. proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CTCAGCGGAGTGTGGGGCCGG 0.617000 31 31 0 0 1 0 0 GABBR2 9568 broad.mit.edu 37 9 101151278 101151278 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr9:101151278G>T ENST00000259455.2 - 10 1846 c.1387C>A c.(1387-1389)Cca>Aca p.P463T NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 463 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) TCTTTTGGTGGTTCGGATCCT 0.542000 58 60 9.53978e-28 1.37797e-27 1 1 0 ANKRD34B 340120 broad.mit.edu 37 5 79855420 79855420 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr5:79855420G>T ENST00000338682.3 - 5 1091 c.419C>A c.(418-420)gCt>gAt p.A140D NM_001004441.2 NP_001004441.2 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 140 cytoplasm|nucleus p.A140D(2) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 28 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) TGCCTTGCAAGCACTAAGAAG 0.423000 71 194 1.2582e-26 1.77789e-26 1 1 0 TMEM200A 114801 broad.mit.edu 37 6 130762280 130762280 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr6:130762280G>T ENST00000392429.1 + 2 3091 c.713G>T c.(712-714)aGt>aTt p.S238I TMEM200A_ENST00000296978.3_Missense_Mutation_p.S238I|TMEM200A_ENST00000545622.1_Missense_Mutation_p.S238I NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 238 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) GAAGGTAAGAGTTCTGGGCAT 0.493000 50 74 1.51926e-22 2.0681e-22 1 1 0 STK36 27148 broad.mit.edu 37 2 219563696 219563696 + Silent SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr2:219563696G>T ENST00000295709.3 + 26 3708 c.3429G>T c.(3427-3429)ctG>ctT p.L1143L STK36_ENST00000392106.2_Silent_p.L1122L|STK36_ENST00000392105.3_Silent_p.L1122L|STK36_ENST00000440309.1_Silent_p.L1143L NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 1143 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) GCATGGCCCTGCGTGGGGCAC 0.617000 32 113 5.09552e-08 5.76015e-08 1 1 0 KEAP1 9817 broad.mit.edu 37 19 10610109 10610109 + Nonsense_Mutation SNP G G A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr19:10610109G>A ENST00000171111.5 - 2 1148 c.601C>T c.(601-603)Cag>Tag p.Q201* KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Nonsense_Mutation_p.Q201* NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 201 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CGGGCACGCTGGTGCAACTCC 0.612000 19 18 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209797324 209797324 + Silent SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr1:209797324C>T ENST00000391911.1 - 14 2387 c.1998G>A c.(1996-1998)caG>caA p.Q666Q LAMB3_ENST00000367030.3_Silent_p.Q666Q|LAMB3_ENST00000356082.4_Silent_p.Q666Q NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 666 Domain II. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GCAGATCCAGCTGCAGGCCCT 0.527000 47 166 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685270 125685270 + Missense_Mutation SNP A A T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chrX:125685270A>T ENST00000371126.1 - 1 1564 c.1322T>A c.(1321-1323)aTg>aAg p.M441K NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 441 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 AAAGAGCTTCATCTCAGGCCA 0.547000 122 56 0 0 1 0 0 SORCS2 57537 broad.mit.edu 37 4 7725441 7725441 + Silent SNP C C G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr4:7725441C>G ENST00000507866.2 + 19 2551 c.2442C>G c.(2440-2442)acC>acG p.T814T SORCS2_ENST00000329016.9_Silent_p.T642T NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 814 PKD. integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 TCCTGACTACCAAGTACCAGG 0.582000 97 200 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44073350 44073350 + Silent SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr2:44073350C>A ENST00000272286.2 + 3 312 c.222C>A c.(220-222)ccC>ccA p.P74P NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 74 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TCAAGATGCCCTGGACATCTC 0.537000 28 81 2.12542e-12 2.5349e-12 1 1 0 NCBP2 22916 broad.mit.edu 37 3 196669346 196669346 + Missense_Mutation SNP C C G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr3:196669346C>G ENST00000321256.5 - 1 122 c.29G>C c.(28-30)cGc>cCc p.R10P NCBP2-AS1_ENST00000447775.1_RNA|NCBP2_ENST00000427641.2_Missense_Mutation_p.R10P NM_007362.3 NP_031388.2 P52298 NCBP2_HUMAN nuclear cap binding protein subunit 2, 20kDa 10 gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm nucleotide binding|protein binding|RNA 7-methylguanosine cap binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00551) GGAGTCGCTGCGCAGCGCCTT 0.682000 OREG0016012 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 10 0 0 1 0 0 DMRTA2 63950 broad.mit.edu 37 1 50885339 50885339 + Silent SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr1:50885339C>A ENST00000404795.3 - 3 1019 c.627G>T c.(625-627)ccG>ccT p.P209P DMRTA2_ENST00000418121.1_Silent_p.P209P NM_032110.2 NP_115486.1 Q96SC8 DMTA2_HUMAN DMRT-like family A2 209 Gly-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(4)|pancreas(1) 6 GCGGCGGCAGCGGGCTGCCCG 0.692000 5 6 0.00198382 0.00203871 1 1 0 RYR2 6262 broad.mit.edu 37 1 237586394 237586394 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr1:237586394G>T ENST00000366574.2 + 12 1168 c.851G>T c.(850-852)tGg>tTg p.W284L RYR2_ENST00000542537.1_Missense_Mutation_p.W268L|RYR2_ENST00000360064.6_Missense_Mutation_p.W282L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 284 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTCATTAGGTGGAGTGGAAGC 0.413000 75 258 4.03997e-35 6.07163e-35 1 1 0 GRAP2 9402 broad.mit.edu 37 22 40364276 40364276 + Splice_Site SNP G G C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr22:40364276G>C ENST00000344138.4 + 6 953 c.690_splice c.e6+1 p.Q230_splice GRAP2_ENST00000540310.1_Splice_Site_p.Q164_splice|GRAP2_ENST00000399090.2_Splice_Site_p.Q117_splice|GRAP2_ENST00000543252.1_Splice_Site_p.Q190_splice|GRAP2_ENST00000544756.1_Splice_Site_p.Q158_splice|GRAP2_ENST00000407075.3_Splice_Site_p.Q230_splice NM_004810.2 NP_004801.1 O75791 GRAP2_HUMAN GRB2-related adaptor protein 2 230 cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway cytosol SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 aTTTCCACCAGGTATCTGGAA 0.602000 18 45 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702550 27702550 + Silent SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr10:27702550C>A ENST00000438700.3 - 1 747 c.630G>T c.(628-630)tcG>tcT p.S210S NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 210 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 CCACCAGAAGCGAGACGAAAT 0.637000 97 109 1.80868e-48 2.90282e-48 1 1 0 USP10 9100 broad.mit.edu 37 16 84778796 84778796 + Missense_Mutation SNP A A T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr16:84778796A>T ENST00000219473.7 + 4 822 c.709A>T c.(709-711)Agg>Tgg p.R237W USP10_ENST00000562743.1_3'UTR|USP10_ENST00000570191.1_Missense_Mutation_p.R241W NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 237 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 CAGTGACACCAGGACTGCAGG 0.617000 19 48 0 0 1 0 0 SEMA6A 57556 broad.mit.edu 37 5 115827446 115827446 + Silent SNP T T A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr5:115827446T>A ENST00000343348.6 - 7 1312 c.525A>T c.(523-525)gcA>gcT p.A175A CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.A175A|SEMA6A_ENST00000257414.8_Silent_p.A175A|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000503962.1_5'UTR NM_020796.3 NP_065847.1 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 175 Sema. apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) CTGCAAACAGTGCAACGTTGG 0.453000 51 43 0 0 1 0 0 SLC24A1 9187 broad.mit.edu 37 15 65917127 65917127 + Missense_Mutation SNP C C G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr15:65917127C>G ENST00000261892.6 + 2 996 c.709C>G c.(709-711)Ctt>Gtt p.L237V SLC24A1_ENST00000399033.4_Missense_Mutation_p.L237V|SLC24A1_ENST00000339868.6_Missense_Mutation_p.L237V|SLC24A1_ENST00000546330.1_Missense_Mutation_p.L237V|SLC24A1_ENST00000544319.2_Missense_Mutation_p.L237V|SLC24A1_ENST00000537259.1_Missense_Mutation_p.L237V NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 237 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 AACCAACTCTCTTAAGAGAAT 0.438000 15 57 0 0 1 0 0 BOLL 66037 broad.mit.edu 37 2 198622102 198622102 + Missense_Mutation SNP C C G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr2:198622102C>G ENST00000321801.7 - 8 1181 c.611G>C c.(610-612)gGa>gCa p.G204A BOLL_ENST00000282278.8_Missense_Mutation_p.G83A|BOLL_ENST00000392296.4_Missense_Mutation_p.G192A|AC011997.1_ENST00000409845.1_Intron|BOLL_ENST00000430004.1_Missense_Mutation_p.G214A|BOLL_ENST00000433157.1_Missense_Mutation_p.G192A NM_197970.2 NP_932074.1 Q8N9W6 BOLL_HUMAN boule-like RNA-binding protein 192 cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm nucleotide binding|protein binding|RNA binding|translation activator activity central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1) 13 CTGCCACTGTCCTGGTAAATA 0.308000 16 71 0 0 1 0 0 PTF1A 256297 broad.mit.edu 37 10 23482674 23482674 + Missense_Mutation SNP C C G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr10:23482674C>G ENST00000376504.3 + 2 1030 c.826C>G c.(826-828)Cta>Gta p.L276V NM_178161.2 NP_835455.1 Q7RTS3 PTF1A_HUMAN pancreas specific transcription factor, 1a 276 endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent cytoplasm|transcription factor complex endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 7 CCTCCCTCCCCTAGCAGGACA 0.512000 300 380 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71394283 71394283 + Missense_Mutation SNP G G C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr17:71394283G>C ENST00000392650.3 - 24 3245 c.3245C>G c.(3244-3246)cCc>cGc p.P1082R SDK2_ENST00000388726.3_Missense_Mutation_p.P1082R NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1082 Fibronectin type-III 5. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 AGGCTGACTGGGGGGGCTGGT 0.617000 48 26 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55481509 55481509 + Silent SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr19:55481509C>T ENST00000543010.1 + 2 269 c.126C>T c.(124-126)atC>atT p.I42I NLRP2_ENST00000339757.7_Silent_p.I42I|NLRP2_ENST00000537859.1_Silent_p.I42I|NLRP2_ENST00000448584.2_Silent_p.I42I|NLRP2_ENST00000427260.2_Silent_p.I42I|NLRP2_ENST00000391721.4_Silent_p.I42I|NLRP2_ENST00000538819.1_Silent_p.I42I|NLRP2_ENST00000263437.6_Silent_p.I42I NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 42 DAPIN. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TCCAGAAGATCCCCCACAAGG 0.552000 68 47 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79175812 79175812 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr14:79175812C>A ENST00000554719.1 + 4 846 c.355C>A c.(355-357)Caa>Aaa p.Q119K NRXN3_ENST00000335750.5_Missense_Mutation_p.Q119K|RP11-232C2.2_ENST00000555680.1_RNA NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 Laminin G-like. 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) TGGAAAGCCCCAAGAGAGGAA 0.522000 41 176 6.5261e-18 8.35856e-18 1 1 0 NOTCH1 4851 broad.mit.edu 37 9 139397707 139397707 + Silent SNP G G A rs10521 by1000genomes TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr9:139397707G>A ENST00000277541.6 - 27 5169 c.5094C>T c.(5092-5094)gaC>gaT p.D1698D NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1698 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.D1699D(11) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ATGCGGCCACGTCGGTGGCAC 0.632000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 4 84 0 0 1 0 0 NETO2 81831 broad.mit.edu 37 16 47117175 47117175 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr16:47117175C>A ENST00000562435.1 - 9 1919 c.1535G>T c.(1534-1536)gGg>gTg p.G512V NETO2_ENST00000303155.5_Missense_Mutation_p.G505V NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 512 integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) ATCTTCTCGCCCCCTGACATA 0.473000 HNSCC(25;0.065) 98 194 4.08182e-41 6.35494e-41 1 1 0 MAP4K3 8491 broad.mit.edu 37 2 39485694 39485694 + Silent SNP T T C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr2:39485694T>C ENST00000263881.3 - 30 2667 c.2343A>G c.(2341-2343)caA>caG p.Q781Q MAP4K3_ENST00000437545.1_Silent_p.Q697Q|MAP4K3_ENST00000536018.1_Silent_p.Q334Q|MAP4K3_ENST00000341681.5_Silent_p.Q760Q NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 781 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) CTCTCTCCAGTTGGGTTACAT 0.328000 49 55 0 0 1 0 0 KCNJ1 3758 broad.mit.edu 37 11 128709081 128709081 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr11:128709081C>A ENST00000392665.2 - 2 1202 c.1058G>T c.(1057-1059)gGc>gTc p.G353V KCNJ1_ENST00000324036.3_Missense_Mutation_p.G353V|KCNJ1_ENST00000440599.2_Missense_Mutation_p.G353V|KCNJ1_ENST00000392666.1_Missense_Mutation_p.G353V|KCNJ1_ENST00000392664.2_Missense_Mutation_p.G372V NM_153764.2 NP_722448.1 P48048 IRK1_HUMAN potassium inwardly-rectifying channel, subfamily J, member 1 372 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) GTTGTCATAGCCTCTCTTCAT 0.428000 42 34 1.43246e-33 2.12823e-33 1 1 0 CHRM2 1129 broad.mit.edu 37 7 136700550 136700550 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr7:136700550G>T ENST00000445907.2 + 3 1466 c.938G>T c.(937-939)gGc>gTc p.G313V CHRM2_ENST00000402486.3_Missense_Mutation_p.G313V|CHRM2_ENST00000320658.5_Missense_Mutation_p.G313V|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.G313V|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.G313V|CHRM2_ENST00000401861.1_Missense_Mutation_p.G313V|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000598184.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 313 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) ACTTCCCTGGGCCATTCCAAA 0.458000 71 124 1.64915e-30 2.42248e-30 1 1 0 SLC6A5 9152 broad.mit.edu 37 11 20622919 20622919 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr11:20622919G>T ENST00000525748.1 + 2 521 c.248G>T c.(247-249)aGt>aTt p.S83I NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 83 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) TGCAAACTCAGTAGCCCGCGG 0.721000 5 4 0.000602214 0.00063391 1 1 0 ZNF556 80032 broad.mit.edu 37 19 2877840 2877840 + Missense_Mutation SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr19:2877840C>T ENST00000586426.1 + 4 968 c.881C>T c.(880-882)gCc>gTc p.A294V ZNF556_ENST00000307635.2_Missense_Mutation_p.A295V Q9HAH1 ZN556_HUMAN zinc finger protein 556 295 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGTGGGAAAGCCTACTGCTGG 0.512000 38 32 0 0 1 0 0 PSMB11 122706 broad.mit.edu 37 14 23511481 23511481 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr14:23511481G>T ENST00000408907.2 + 1 106 c.47G>T c.(46-48)gGa>gTa p.G16V NM_001099780.1 NP_001093250.1 A5LHX3 PSB11_HUMAN proteasome (prosome, macropain) subunit, beta type, 11 16 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|kidney(2)|lung(4) 7 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00643) GACACCCAGGGACCATCACCT 0.627000 50 221 5.13769e-22 6.88556e-22 1 1 0 LRP5L 91355 broad.mit.edu 37 22 25753347 25753347 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr22:25753347C>A ENST00000444995.3 - 5 1013 c.313G>T c.(313-315)Gcc>Tcc p.A105S LRP5L_ENST00000402859.2_Missense_Mutation_p.A105S|LRP5L_ENST00000402785.2_Missense_Mutation_p.A105S A4QPB2 LRP5L_HUMAN low density lipoprotein receptor-related protein 5-like 105 central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2) 6 TCCAGGTTGGCACGCTTGATT 0.592000 56 69 2.22609e-26 3.11173e-26 1 1 0 LTBP2 4053 broad.mit.edu 37 14 75019651 75019651 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr14:75019651G>T ENST00000261978.4 - 5 1522 c.1136C>A c.(1135-1137)aCc>aAc p.T379N LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.T379N|CTD-2207P18.1_ENST00000554552.1_lincRNA NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 379 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GTACAGGGTGGTGGTGTCGCC 0.587000 15 38 1.3612e-06 1.49963e-06 1 1 0 OR52N2 390077 broad.mit.edu 37 11 5842134 5842134 + Missense_Mutation SNP C C A rs140734548 byFrequency TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr11:5842134C>A ENST00000317037.2 + 1 591 c.569C>A c.(568-570)tCc>tAc p.S190Y TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCAAGGTATCCTGTGGCAAT 0.473000 170 152 1.8266e-78 3.27528e-78 1 1 0 ETS2 2114 broad.mit.edu 37 21 40194739 40194739 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr21:40194739C>A ENST00000360214.3 + 11 1796 c.1336C>A c.(1336-1338)Ctc>Atc p.L446I ETS2_ENST00000360938.3_Missense_Mutation_p.L446I NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 446 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) CGTGTGCGACCTCCAGAACTT 0.622000 22 57 7.41877e-09 8.49727e-09 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113259301 113259301 + Silent SNP T T C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr8:113259301T>C ENST00000297405.5 - 64 10414 c.10170A>G c.(10168-10170)acA>acG p.T3390T CSMD3_ENST00000352409.3_Silent_p.T3320T|CSMD3_ENST00000343508.3_Silent_p.T3350T|CSMD3_ENST00000455883.2_Silent_p.T3221T NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3390 Sushi 27. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GGCAGGTGCGTGTTGTAGACC 0.393000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 65 73 0 0 1 0 0 LIN7A 8825 broad.mit.edu 37 12 81205403 81205403 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr12:81205403G>T ENST00000552864.1 - 5 745 c.543C>A c.(541-543)agC>agA p.S181R NM_004664.2 NP_004655.1 O14910 LIN7A_HUMAN lin-7 homolog A (C. elegans) 181 PDZ. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 CCAGCTTGACGCTGTCTTTAG 0.488000 48 42 2.0833e-19 2.70829e-19 1 1 0 C15orf37 283687 broad.mit.edu 37 15 80215233 80215233 + Missense_Mutation SNP C C G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr15:80215233C>G ENST00000560255.1 + 1 121 c.118C>G c.(118-120)Ccc>Gcc p.P40A ST20-MTHFS_ENST00000494999.1_Intron|ST20-MTHFS_ENST00000479961.1_Intron|ST20_ENST00000485386.1_Intron chromosome 15 open reading frame 37 kidney(1)|lung(1)|stomach(1) 3 ATCCAACCAACCCACCAACCC 0.567000 23 81 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50463954 50463954 + Silent SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr2:50463954G>T ENST00000404971.1 - 19 4978 c.3639C>A c.(3637-3639)ggC>ggA p.G1213G NRXN1_ENST00000406316.2_Silent_p.G1173G|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Silent_p.G1173G|NRXN1_ENST00000406859.3_Silent_p.G1173G|NRXN1_ENST00000402717.3_Silent_p.G1165G|NRXN1_ENST00000342183.5_Silent_p.G138G|NRXN1_ENST00000401710.1_Silent_p.G191G|NRXN1_ENST00000405472.3_Silent_p.G1165G NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1173 Laminin G-like 6. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AGTCACCCAAGCCTGAAGAAC 0.398000 32 93 1.39649e-27 2.006e-27 1 1 0 ZNF99 7652 broad.mit.edu 37 19 22940265 22940265 + Missense_Mutation SNP A A G rs74170740 TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr19:22940265A>G ENST00000397104.3 - 5 2172 c.2173T>C c.(2173-2175)Tcc>Ccc p.S725P ZNF99_ENST00000596209.1_Missense_Mutation_p.S816P zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CATTTGTAGGATTTCTCTCCA 0.348000 11 43 0 0 1 0 0 STAP1 26228 broad.mit.edu 37 4 68442941 68442941 + Silent SNP G G A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr4:68442941G>A ENST00000265404.2 + 4 409 c.327G>A c.(325-327)ggG>ggA p.G109G STAP1_ENST00000396225.1_Silent_p.G109G NM_012108.2 NP_036240.1 Q9ULZ2 STAP1_HUMAN signal transducing adaptor family member 1 109 PH. cellular membrane fusion|intracellular protein transport cytoplasm NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 12 CAGAAAGTGGGGAAGAATGGA 0.348000 18 27 0 0 1 0 0 PRSS58 136541 broad.mit.edu 37 7 141954953 141954953 + Missense_Mutation SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr7:141954953C>T ENST00000552471.1 - 3 677 c.358G>A c.(358-360)Gcc>Acc p.A120T PRSS58_ENST00000547058.2_Missense_Mutation_p.A120T Q8IYP2 PRS58_HUMAN protease, serine, 58 120 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 GGCAGGTTGGCTAATTTCACA 0.403000 119 203 0 0 1 0 0 LUC7L 55692 broad.mit.edu 37 16 258094 258094 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr16:258094C>A ENST00000337351.4 - 4 472 c.349G>T c.(349-351)Gcg>Tcg p.A117S LUC7L_ENST00000397780.1_Missense_Mutation_p.A64S|LUC7L_ENST00000397783.1_Missense_Mutation_p.A117S|LUC7L_ENST00000293872.8_Missense_Mutation_p.A117S NM_018032.3 NP_060502.1 Q9NQ29 LUC7L_HUMAN LUC7-like (S. cerevisiae) 117 metal ion binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 11 all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306) GAAACTTCCGCACTGATTTCC 0.468000 48 116 3.21987e-24 4.45301e-24 1 1 0 SLC6A10P 386757 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 4 40 0 0 1 0 0 GLG1 2734 broad.mit.edu 37 16 74490579 74490579 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr16:74490579C>A ENST00000422840.2 - 25 3339 c.3340G>T c.(3340-3342)Gac>Tac p.D1114Y GLG1_ENST00000205061.5_Missense_Mutation_p.D1114Y|GLG1_ENST00000447066.2_Missense_Mutation_p.D1103Y NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 1114 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 TCAATCCGGTCATTGAGGCGC 0.418000 61 173 2.77303e-49 4.50617e-49 1 1 0 ATP4A 495 broad.mit.edu 37 19 36054406 36054406 + Silent SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr19:36054406C>T ENST00000262623.3 - 2 64 c.36G>A c.(34-36)gtG>gtA p.V12V NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 12 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) GACCCAGCTCCACCGAGTAGA 0.612000 175 124 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10536029 10536029 + Missense_Mutation SNP C C G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr17:10536029C>G ENST00000583535.1 - 34 4807 c.4720G>C c.(4720-4722)Gat>Cat p.D1574H MYH3_ENST00000226209.7_Missense_Mutation_p.D1574H NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1574 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 ATCTTTCTATCAATTTCTGAT 0.468000 224 148 0 0 1 0 0 GPC6 10082 broad.mit.edu 37 13 95050778 95050778 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr13:95050778G>T ENST00000377047.4 + 8 1963 c.1348G>T c.(1348-1350)Gat>Tat p.D450Y NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 450 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) TCCCGAGGTGGATGTGGACAT 0.488000 47 39 2.68985e-26 3.7399e-26 1 1 0 COLEC12 81035 broad.mit.edu 37 18 334822 334822 + Missense_Mutation SNP G G A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr18:334822G>A ENST00000400256.3 - 6 1943 c.1736C>T c.(1735-1737)cCc>cTc p.P579L NM_130386.2 NP_569057.1 Q5KU26 COL12_HUMAN collectin sub-family member 12 579 Collagen-like 3. carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) AGGGCCGGGGGGGCCCTTGGG 0.692000 10 6 0 0 1 0 0 LPAR4 2846 broad.mit.edu 37 X 78011361 78011361 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chrX:78011361C>A ENST00000435339.2 + 2 1400 c.995C>A c.(994-996)tCc>tAc p.S332Y LPAR4_ENST00000373301.2_Missense_Mutation_p.S332Y NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 332 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 AGAATGGAGTCCCTGTTTAAG 0.408000 121 56 1.6041e-38 2.45333e-38 1 1 0 NEK1 4750 broad.mit.edu 37 4 170384466 170384466 + Missense_Mutation SNP C C G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr4:170384466C>G ENST00000439128.2 - 25 3071 c.2431G>C c.(2431-2433)Gtt>Ctt p.V811L NEK1_ENST00000510533.1_Missense_Mutation_p.V767L|NEK1_ENST00000512193.1_Missense_Mutation_p.V742L|NEK1_ENST00000511633.1_Missense_Mutation_p.V795L|NEK1_ENST00000507142.1_Missense_Mutation_p.V839L NM_012224.2 NP_036356.1 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 811 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1) 45 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) ATCTTTAGAACAGAATCTGTC 0.353000 63 45 0 0 1 0 0 LAMB2 3913 broad.mit.edu 37 3 49167691 49167691 + Missense_Mutation SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr3:49167691C>T ENST00000418109.1 - 10 1362 c.1198G>A c.(1198-1200)Gac>Aac p.D400N LAMB2_ENST00000305544.4_Missense_Mutation_p.D400N NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 400 Laminin EGF-like 2. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCCCGCAGGTCCTTGGTTGGG 0.597000 34 48 0 0 1 0 0 FAR2P1 440905 broad.mit.edu 37 2 130792746 130792746 + RNA SNP G G C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr2:130792746G>C ENST00000325390.3 - 0 2582 NR_026758.1 CAGCTAGTGGGAGATTGACGG 0.483000 36 47 0 0 1 0 0 SH2D2A 9047 broad.mit.edu 37 1 156777073 156777073 + Missense_Mutation SNP T T G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr1:156777073T>G ENST00000392306.2 - 8 1236 c.1097A>C c.(1096-1098)cAc>cCc p.H366P SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P|SH2D2A_ENST00000368199.3_Missense_Mutation_p.H356P NM_001161441.1 NP_001154913.1 Q9NP31 SH22A_HUMAN SH2 domain containing 2A 356 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGGGGGCTGGTGGGGCAGGGG 0.597000 6 46 0 0 1 0 0 ACSL5 51703 broad.mit.edu 37 10 114154797 114154797 + Silent SNP G G C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr10:114154797G>C ENST00000393081.1 + 2 400 c.93G>C c.(91-93)ctG>ctC p.L31L ACSL5_ENST00000433418.1_Silent_p.L31L|ACSL5_ENST00000479936.1_3'UTR|ACSL5_ENST00000354655.4_Silent_p.L31L|ACSL5_ENST00000354273.4_Silent_p.L31L|ACSL5_ENST00000356116.1_Silent_p.L87L NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 31 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) TCTTGTGGCTGATCACCAGAC 0.443000 50 180 0 0 1 0 0 KRTAP19-3 337970 broad.mit.edu 37 21 31864170 31864170 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr21:31864170C>A ENST00000334063.4 - 1 105 c.106G>T c.(106-108)Ggt>Tgt p.G36C NM_181609.3 NP_853640.1 Q7Z4W3 KR193_HUMAN keratin associated protein 19-3 36 intermediate filament large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 9 CAGCCAGAACCCAGTCTGCGG 0.592000 200 460 5.71156e-53 9.58068e-53 1 1 0 TTN 7273 broad.mit.edu 37 2 179404855 179404855 + Missense_Mutation SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr2:179404855C>T ENST00000589042.1 - 351 98262 c.98038G>A c.(98038-98040)Gct>Act p.A32680T TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A23615T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A31039T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A23740T|TTN_ENST00000342992.6_Missense_Mutation_p.A30112T|TTN_ENST00000342175.6_Missense_Mutation_p.A23807T|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31039 Ig-like 144. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTCCACCAGCATTACAAGCT 0.468000 11 346 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C A rs28934576 by1000genomes TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr17:7577120C>A ENST00000420246.2 - 8 950 c.818G>T c.(817-819)cGt>cTt p.R273L TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000445888.2_Missense_Mutation_p.R273L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCACAAACACGCACCTCAAA 0.542000 R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 43 24 7.53189e-24 1.03068e-23 1 1 0 PCDHGA2 56113 broad.mit.edu 37 5 140718766 140718766 + Silent SNP T T C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr5:140718766T>C ENST00000394576.2 + 1 228 c.228T>C c.(226-228)gcT>gcC p.A76A PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCTCTTTGCTCTGAACCCGC 0.587000 73 69 0 0 1 0 0 DRD3 1814 broad.mit.edu 37 3 113850168 113850168 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr3:113850168C>A ENST00000383673.2 - 6 1233 c.803G>T c.(802-804)gGc>gTc p.G268V DRD3_ENST00000460779.1_Missense_Mutation_p.G268V|DRD3_ENST00000467632.1_Missense_Mutation_p.G268V|DRD3_ENST00000295881.7_Missense_Mutation_p.G268V NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 268 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) TTCTTGGAAGCCTGGTCCACC 0.542000 110 100 4.09449e-47 6.49126e-47 1 1 0 PSMB3 5691 broad.mit.edu 37 17 36916717 36916717 + Silent SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr17:36916717C>T ENST00000225426.4 + 4 421 c.330C>T c.(328-330)gcC>gcT p.A110A NM_002795.2 NP_002786.2 P49720 PSB3_HUMAN proteasome (prosome, macropain) subunit, beta type, 3 110 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(1) 4 CAGTCATTGCCGGGTTGGACC 0.537000 35 137 0 0 1 0 0 ANAPC16 119504 broad.mit.edu 37 10 73992792 73992792 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr10:73992792G>T ENST00000299381.4 + 4 369 c.251G>T c.(250-252)gGt>gTt p.G84V ANAPC16_ENST00000470481.2_3'UTR NM_001242546.1|NM_001242547.1|NM_001242548.1|NM_173473.3 NP_001229475.1|NP_001229476.1|NP_001229477.1|NP_775744.1 Q96DE5 APC16_HUMAN anaphase promoting complex subunit 16 84 cell division|mitosis|protein ubiquitination anaphase-promoting complex|cytoplasm large_intestine(1)|ovary(1) 2 AAACTAGCTGGTTTGGTAGAA 0.507000 29 57 2.65835e-16 3.32293e-16 1 1 0 TMEM185A 84548 broad.mit.edu 37 X 148693044 148693044 + Silent SNP T T A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chrX:148693044T>A ENST00000316916.8 - 2 445 c.141A>T c.(139-141)atA>atT p.I47I TMEM185A_ENST00000536359.1_Intron|TMEM185A_ENST00000507237.1_Silent_p.I47I NM_032508.2 NP_115897.1 Q8NFB2 T185A_HUMAN transmembrane protein 185A 47 integral to membrane kidney(1)|large_intestine(3)|lung(10)|ovary(1) 15 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) TCCACAGCCATATTGGAGCAA 0.473000 250 118 0 0 1 0 0 MRAP2 112609 broad.mit.edu 37 6 84765133 84765133 + Silent SNP A A T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr6:84765133A>T ENST00000257776.4 + 2 231 c.96A>T c.(94-96)ccA>ccT p.P32P NM_138409.2 NP_612418.2 Q96G30 MRAP2_HUMAN melanocortin 2 receptor accessory protein 2 32 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 19 AGATTGGACCAGTTTCCTTTG 0.388000 38 36 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50464097 50464097 + Missense_Mutation SNP A A T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr2:50464097A>T ENST00000404971.1 - 19 4835 c.3496T>A c.(3496-3498)Tat>Aat p.Y1166N NRXN1_ENST00000406316.2_Missense_Mutation_p.Y1126N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.Y1126N|NRXN1_ENST00000406859.3_Missense_Mutation_p.Y1126N|NRXN1_ENST00000402717.3_Missense_Mutation_p.Y1118N|NRXN1_ENST00000342183.5_Missense_Mutation_p.Y91N|NRXN1_ENST00000401710.1_Missense_Mutation_p.Y144N|NRXN1_ENST00000405472.3_Missense_Mutation_p.Y1118N NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1126 Laminin G-like 6. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CTAAAGATATATGTCGTCCCA 0.408000 57 89 0 0 1 0 0 FAM181B 220382 broad.mit.edu 37 11 82443523 82443523 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr11:82443523C>A ENST00000329203.3 - 1 1383 c.1249G>T c.(1249-1251)Gcg>Tcg p.A417S NM_175885.3 NP_787081.2 A6NEQ2 F181B_HUMAN family with sequence similarity 181, member B 417 large_intestine(1)|lung(2)|prostate(1) 4 TCCCCCGGCGCCCCTTCCCAA 0.677000 11 24 0.000673444 0.000703195 1 1 0 RAB7L1 8934 broad.mit.edu 37 1 205744038 205744038 + Missense_Mutation SNP G G C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr1:205744038G>C ENST00000367139.3 - 2 350 c.47C>G c.(46-48)gCc>gGc p.A16G RAB7L1_ENST00000414729.1_Missense_Mutation_p.A16G|RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000446390.2_Missense_Mutation_p.A16G|RAB7L1_ENST00000235932.4_Missense_Mutation_p.A16G|RAB7L1_ENST00000437324.2_Intron NM_003929.2 NP_003920.1 O14966 RAB7L_HUMAN RAB7, member RAS oncogene family-like 1 16 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity|protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 10 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0194) GCCCACTGCGGCGTCCCCCAC 0.642000 40 72 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143029891 143029891 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr7:143029891C>A ENST00000343257.2 + 12 1413 c.1326C>A c.(1324-1326)agC>agA p.S442R NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 442 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) ATCCTGAGAGCCTGGGCCAGT 0.517000 106 239 1.77424e-55 2.99548e-55 1 1 0 OR2T33 391195 broad.mit.edu 37 1 248436906 248436906 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr1:248436906G>T ENST00000318021.2 - 1 232 c.211C>A c.(211-213)Ctg>Atg p.L71M NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GTGGAAACCAGCATCATGTCC 0.557000 219 287 1.60711e-142 2.92202e-142 1 1 0 GCC2 9648 broad.mit.edu 37 2 109092020 109092020 + Nonsense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr2:109092020G>T ENST00000309863.6 + 8 3604 c.2890G>T c.(2890-2892)Gag>Tag p.E964* NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 964 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 CAAAGAAAAGGAGGAGAAAAT 0.289000 7 14 2.7689e-08 3.15751e-08 1 1 0 PNKP 11284 broad.mit.edu 37 19 50370414 50370414 + Silent SNP A A G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr19:50370414A>G ENST00000322344.3 - 2 157 c.48T>C c.(46-48)ccT>ccC p.P16P PNKP_ENST00000600573.1_Silent_p.P16P|PNKP_ENST00000596014.1_Silent_p.P16P|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600910.1_Silent_p.P16P NM_007254.3 NP_009185.2 Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 16 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding p.P16P(8) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) GCGCTCCCCCAGGGGGGCTCT 0.721000 Other BER factors 8 39 0 0 1 0 0 PTK7 5754 broad.mit.edu 37 6 43096778 43096778 + Missense_Mutation SNP G G T rs150064108 TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr6:43096778G>T ENST00000230419.4 + 2 364 c.143G>T c.(142-144)cGg>cTg p.R48L PTK7_ENST00000349241.2_Missense_Mutation_p.R48L|PTK7_ENST00000352931.2_Missense_Mutation_p.R48L|PTK7_ENST00000471863.1_Missense_Mutation_p.R48L|PTK7_ENST00000345201.2_Missense_Mutation_p.R48L|PTK7_ENST00000476760.1_Missense_Mutation_p.R48L|PTK7_ENST00000481273.1_Missense_Mutation_p.R56L NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 48 Ig-like C2-type 1. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.R48Q(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CAGGGGCGCCGGGCGCTGCTT 0.652000 50 113 1.00776e-21 1.33682e-21 1 1 0 COX10-AS1 100874058 broad.mit.edu 37 17 13927886 13927886 + RNA SNP G G A rs11649821 by1000genomes TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr17:13927886G>A ENST00000602743.1 - 0 224 AACGGAGGGAGTGAGAGCCTT 0.562000 4 82 0 0 1 0 0 ZNF333 84449 broad.mit.edu 37 19 14827808 14827808 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr19:14827808G>T ENST00000292530.6 + 10 821 c.730G>T c.(730-732)Gat>Tat p.D244Y ZNF333_ENST00000536363.1_Missense_Mutation_p.D135Y|ZNF333_ENST00000540689.2_Missense_Mutation_p.D244Y NM_032433.2 NP_115809.1 Q96JL9 ZN333_HUMAN zinc finger protein 333 244 KRAB 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1) 21 ATGAGCAGCTGATCAACTGTG 0.522000 10 11 3.07112e-06 3.36916e-06 1 1 0 PLSCR1 5359 broad.mit.edu 37 3 146239431 146239431 + Missense_Mutation SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr3:146239431C>T ENST00000342435.4 - 7 1048 c.638G>A c.(637-639)tGt>tAt p.C213Y PLSCR1_ENST00000448787.2_Missense_Mutation_p.C132Y|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000487389.1_Missense_Mutation_p.C206Y NM_021105.2 NP_066928.1 O15162 PLS1_HUMAN phospholipid scramblase 1 213 phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 CTTTGGTAGACATGGGTGCCA 0.353000 41 53 0 0 1 0 0 SRPK3 26576 broad.mit.edu 37 X 153049528 153049528 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chrX:153049528C>A ENST00000489426.1 + 16 3574 c.1208C>A c.(1207-1209)cCc>cAc p.P403H SRPK3_ENST00000393786.3_Intron|SRPK3_ENST00000370100.1_Intron|SRPK3_ENST00000370104.1_Missense_Mutation_p.P335H|SRPK3_ENST00000370101.3_Missense_Mutation_p.P336H|SRPK3_ENST00000370108.3_Intron Q9UPE1 SRPK3_HUMAN SRSF protein kinase 3 336 Protein kinase. cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1) 13 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) TCTTCCTCCCCCGCCCCAGGG 0.697000 41 22 2.40579e-17 3.03644e-17 1 1 0 AK9 221264 broad.mit.edu 37 6 109962757 109962757 + Translation_Start_Site SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr6:109962757C>A ENST00000341338.6 - 0 973 AK9_ENST00000424296.2_Missense_Mutation_p.Q299H|AK9_ENST00000285397.5_Missense_Mutation_p.Q299H|AK9_ENST00000368948.2_Missense_Mutation_p.Q299H adenylate kinase 9 CCTCTGCACCCTGAAGTTTGG 0.348000 22 30 1.50039e-11 1.76517e-11 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139164925 139164925 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr8:139164925C>A ENST00000395297.1 - 13 1963 c.1793G>T c.(1792-1794)gGt>gTt p.G598V NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 598 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GTGGCTTCCACCTACTACCAC 0.463000 HNSCC(54;0.14) 116 353 7.08065e-59 1.21116e-58 1 1 0 SEMG1 6406 broad.mit.edu 37 20 43836170 43836170 + Missense_Mutation SNP C C G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr20:43836170C>G ENST00000372781.3 + 2 289 c.232C>G c.(232-234)Cag>Gag p.Q78E SEMG1_ENST00000244069.6_Missense_Mutation_p.Q78E NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) TGATCATGACCAGTCCCGAAA 0.398000 90 172 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7569490 7569490 + Silent SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr6:7569490C>T ENST00000379802.3 + 12 1832 c.1491C>T c.(1489-1491)ggC>ggT p.G497G DSP_ENST00000418664.2_Silent_p.G497G NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 497 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ACGTGACGGGCCCGGGAGGCG 0.562000 112 176 0 0 1 0 0 CTAGE6 340307 broad.mit.edu 37 7 143453483 143453483 + Silent SNP G G C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr7:143453483G>C ENST00000470691.2 - 1 1306 c.1269C>G c.(1267-1269)ctC>ctG p.L423L NM_178561.4 NP_848656.2 CTAGE family, member 6 Melanoma(164;0.0903) TGGCACGGCTGAGCTTTTCTT 0.373000 72 391 0 0 1 0 0 ZWINT 11130 broad.mit.edu 37 10 58118708 58118708 + Splice_Site SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr10:58118708C>A ENST00000373944.3 - 6 519 c.480_splice c.e6-1 p.E161_splice ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000318387.2_Splice_Site_p.E41_splice|ZWINT_ENST00000361148.6_Splice_Site_p.E161_splice|ZWINT_ENST00000395405.1_Splice_Site_p.E161_splice O95229 ZWINT_HUMAN ZW10 interacting kinetochore protein 161 cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1) 20 AGATGCTTCTCCTGCCAGGAG 0.537000 31 124 5.09552e-08 5.76015e-08 1 1 0 PCDHB3 56132 broad.mit.edu 37 5 140482001 140482001 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr5:140482001G>T ENST00000231130.2 + 1 1768 c.1768G>T c.(1768-1770)Gtg>Ttg p.V590L NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 590 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACCAAGGTGGTGGCGGTGGA 0.706000 79 67 7.29696e-51 1.20841e-50 1 1 0 DNAJC22 79962 broad.mit.edu 37 12 49742765 49742765 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr12:49742765C>A ENST00000549441.2 + 3 1314 c.110C>A c.(109-111)aCc>aAc p.T37N DNAJC22_ENST00000395069.3_Missense_Mutation_p.T37N Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 37 protein folding integral to membrane heat shock protein binding|unfolded protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1) 10 TGGATGCTGACCCTGGGGGGA 0.667000 71 60 4.83677e-39 7.44119e-39 1 1 0 GOLIM4 27333 broad.mit.edu 37 3 167761252 167761252 + Missense_Mutation SNP T T G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr3:167761252T>G ENST00000470487.1 - 5 1121 c.432A>C c.(430-432)gaA>gaC p.E144D GOLIM4_ENST00000309027.4_Missense_Mutation_p.E144D NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 144 Endosome targeting. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TACTGAAGTCTTCCCCTTGTT 0.378000 70 65 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158647559 158647559 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr1:158647559C>A ENST00000368148.3 - 7 1058 c.878G>T c.(877-879)gGc>gTc p.G293V SPTA1_ENST00000368147.3_Missense_Mutation_p.G293V NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 293 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AAGGTCTTTGCCATAGTCCTC 0.463000 85 99 1.20873e-29 1.7557e-29 1 1 0 OBSL1 23363 broad.mit.edu 37 2 220424039 220424039 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr2:220424039C>A ENST00000404537.1 - 9 3190 c.3134G>T c.(3133-3135)cGc>cTc p.R1045L OBSL1_ENST00000603926.1_Missense_Mutation_p.R1045L|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265317.5_Missense_Mutation_p.R36L|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1045L|OBSL1_ENST00000265318.4_Missense_Mutation_p.R1045L NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 1045 Ig-like 8. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) TAGCACCAGGCGGCAGCGTGG 0.632000 92 197 6.88379e-33 1.01692e-32 1 1 0 DRD2 1813 broad.mit.edu 37 11 113281583 113281583 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr11:113281583C>A ENST00000362072.3 - 8 1542 c.1198G>T c.(1198-1200)Gac>Tac p.D400Y DRD2_ENST00000355319.2_Missense_Mutation_p.D402Y|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000542968.1_Missense_Mutation_p.D400Y|DRD2_ENST00000538967.1_Missense_Mutation_p.D402Y|DRD2_ENST00000346454.3_Missense_Mutation_p.D371Y|DRD2_ENST00000544518.1_Missense_Mutation_p.D399Y NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 400 activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding p.D400Y(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) ATGTTGCAGTCACAGTGTATG 0.572000 62 54 4.64241e-40 7.18468e-40 1 1 0 DOCK11 139818 broad.mit.edu 37 X 117712607 117712607 + Silent SNP A A T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chrX:117712607A>T ENST00000276204.6 + 13 1583 c.1509A>T c.(1507-1509)gtA>gtT p.V503V DOCK11_ENST00000498252.1_3'UTR|DOCK11_ENST00000276202.7_Silent_p.V503V Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 503 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 CTGATCCAGTAAAGGTAATTT 0.328000 5 50 0 0 1 0 0 SLC43A2 124935 broad.mit.edu 37 17 1520021 1520021 + Missense_Mutation SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr17:1520021C>T ENST00000571650.1 - 3 509 c.203G>A c.(202-204)gGg>gAg p.G68E SLC43A2_ENST00000382147.4_Missense_Mutation_p.G68E|SLC43A2_ENST00000301335.4_Missense_Mutation_p.G68E Q8N370 LAT4_HUMAN solute carrier family 43 (amino acid system L transporter), member 2 68 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0883) CTCCTCGTGCCCCGGCTCTGC 0.582000 47 41 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196887535 196887535 + Nonstop_Mutation SNP A A C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr1:196887535A>C ENST00000367416.2 + 10 1870 c.1733A>C c.(1732-1734)tAa>tCa p.*578S CFHR4_ENST00000367418.1_Nonstop_Mutation_p.*332S|CFHR4_ENST00000251424.4_Nonstop_Mutation_p.*332S|CFHR2_ENST00000367421.3_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 AGATGCGAATAAGGCAGCATT 0.373000 83 250 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26422708 26422708 + Silent SNP G G C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr22:26422708G>C ENST00000335473.7 + 43 7018 c.6768G>C c.(6766-6768)ggG>ggC p.G2256G MYO18B_ENST00000536101.1_Silent_p.G2256G|MYO18B_ENST00000407587.2_Silent_p.G2257G NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2256 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TCGTGGAAGGGCTCCGGAGGA 0.622000 19 15 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9077809 9077809 + Nonsense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr19:9077809C>A ENST00000397910.4 - 3 9840 c.9637G>T c.(9637-9639)Gaa>Taa p.E3213* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3214 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 ATGCTGGGTTCCTTGGAGCTC 0.478000 115 80 4.10022e-50 6.70476e-50 1 1 0 NRXN3 9369 broad.mit.edu 37 14 79175811 79175811 + Silent SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr14:79175811C>A ENST00000554719.1 + 4 845 c.354C>A c.(352-354)ccC>ccA p.P118P NRXN3_ENST00000335750.5_Silent_p.P118P|RP11-232C2.2_ENST00000555680.1_RNA NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 Laminin G-like. 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) ATGGAAAGCCCCAAGAGAGGA 0.517000 41 184 6.5261e-18 8.35856e-18 1 1 0 MSLN 10232 broad.mit.edu 37 16 815582 815582 + Missense_Mutation SNP G G A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr16:815582G>A ENST00000566549.1 + 9 1177 c.760G>A c.(760-762)Gtg>Atg p.V254M MSLN_ENST00000563941.1_Missense_Mutation_p.V254M|MSLN_ENST00000382862.3_Missense_Mutation_p.V254M|MSLN_ENST00000545450.2_Missense_Mutation_p.V254M Q13421 MSLN_HUMAN mesothelin 254 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) CCTGCTGCCCGTGCTGGGCCA 0.706000 18 39 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131519789 131519789 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr2:131519789C>A ENST00000423981.1 + 2 254 c.144C>A c.(142-144)caC>caA p.H48Q AMER3_ENST00000321420.4_Missense_Mutation_p.H48Q NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 AGAGGCCCCACAGTGAGAAGG 0.662000 6 15 0.248553 0.249512 1 1 0 CLCA2 9635 broad.mit.edu 37 1 86916408 86916408 + Missense_Mutation SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr1:86916408C>A ENST00000370565.4 + 12 2309 c.2147C>A c.(2146-2148)aCa>aAa p.T716K CLCA2_ENST00000498802.1_3'UTR NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 716 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) CCAGGTTACACAGCAAACGGT 0.453000 79 76 3.33186e-49 5.38064e-49 1 1 0 BRDT 676 broad.mit.edu 37 1 92442776 92442776 + Missense_Mutation SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr1:92442776G>T ENST00000370389.2 + 6 1500 c.576G>T c.(574-576)aaG>aaT p.K192N BRDT_ENST00000402388.1_Missense_Mutation_p.K265N|BRDT_ENST00000362005.3_Missense_Mutation_p.K265N|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000399546.2_Missense_Mutation_p.K265N|BRDT_ENST00000394530.3_Missense_Mutation_p.K219N NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) ATGTTGTGAAGACTGTTAAAG 0.348000 37 53 1.07637e-12 1.29563e-12 1 1 0 VPS51 738 broad.mit.edu 37 11 64863748 64863748 + Missense_Mutation SNP C C G TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr11:64863748C>G ENST00000279281.3 + 1 118 c.26C>G c.(25-27)cCt>cGt p.P9R NM_013265.2 NP_037397.2 vacuolar protein sorting 51 homolog (S. cerevisiae) GCCGCCGGGCCTAGCCCGGGG 0.697000 3 0 0 0 1 0 0 STAU1 6780 broad.mit.edu 37 20 47768230 47768230 + Silent SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr20:47768230C>A ENST00000371828.3 - 5 643 c.156G>T c.(154-156)gtG>gtT p.V52V STAU1_ENST00000347458.5_Silent_p.V52V|STAU1_ENST00000340954.7_Silent_p.V52V|STAU1_ENST00000371792.1_Silent_p.V52V|STAU1_ENST00000371802.1_Silent_p.V52V|STAU1_ENST00000360426.4_Silent_p.V52V|STAU1_ENST00000371856.2_Silent_p.V133V NM_001037328.1|NM_004602.2 NP_001032405.1|NP_004593.2 O95793 STAU1_HUMAN staufen double-stranded RNA binding protein 1 133 microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) GCTGTCCTCCCACAGAAAGTT 0.443000 46 73 4.01344e-20 5.27017e-20 1 1 0 PCDHGA6 56109 broad.mit.edu 37 5 140756074 140756074 + Splice_Site SNP G G T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr5:140756074G>T ENST00000517434.1 + 1 2424 c.2424_splice c.e1+1 p.Q808_splice PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCAACTTCAGGTGAGTTTCT 0.473000 49 34 2.51966e-14 3.09015e-14 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11039057 11039057 + RNA SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr21:11039057C>A ENST00000470054.1 - 0 1146 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTCCATCAATCCAGTAGAAAG 0.393000 56 759 2.23044e-30 3.25794e-30 1 1 0 RP6-206I17.1 0 broad.mit.edu 37 1 143744408 143744408 + RNA SNP C C T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr1:143744408C>T ENST00000445753.1 - 0 2 GGCTGAAGGCCAAGTGGTTTC 0.562000 5 38 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143047473 143047473 + Silent SNP C C A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr7:143047473C>A ENST00000343257.2 + 21 2499 c.2412C>A c.(2410-2412)gcC>gcA p.A804A NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 804 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) AGATTGAGGCCTGGGAGCAGG 0.552000 21 49 1.01871e-10 1.18243e-10 1 1 0 HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 10 271 --- --- --- --- PAPPA2 60676 broad.mit.edu 37 1 176563714 176563714 + Frame_Shift_Del DEL T T - TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr1:176563714delT ENST00000367662.3 + 3 2138 c.974delT c.(973-975)acfs p.I325fs PAPPA2_ENST00000367661.3_Frame_Shift_Del_p.I325fs NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 325 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GCCCTGGGGATCCGCTCAGGG 0.542 70 94 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 7 250 --- --- --- --- KCNS3 3790 broad.mit.edu 37 2 18112517 18112518 + Frame_Shift_Ins INS - - T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr2:18112517_18112518insT ENST00000403915.1 + 3 693_694 c.242_243insT c.(241-243)attfs p.I81fs KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Frame_Shift_Ins_p.I81fs Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 81 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity p.N81S(1) endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TATGTTTTGAATTTTTATTACA 0.455 51 228 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38710023 38710023 + RNA DEL T T - rs2005503 TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr2:38710023delT ENST00000417039.1 - 0 696 aaaaaataaataaataaataa 0.244 7 8 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168114423 168114424 + Frame_Shift_Ins INS - - C rs139881474 by1000genomes TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr2:168114423_168114424insC ENST00000409728.1 + 11 1555_1556 c.1466_1467insC c.(1465-1467)cctfs p.P489fs XIRP2_ENST00000409605.1_Frame_Shift_Ins_p.P234fs|XIRP2_ENST00000409043.1_Frame_Shift_Ins_p.P456fs|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Frame_Shift_Ins_p.P456fs|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Frame_Shift_Ins_p.P489fs NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 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 CACTTTAAACAACTTTTCAAAT 0.337 22 92 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187521203 187521203 + Frame_Shift_Del DEL C C - TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr4:187521203delC ENST00000441802.2 - 22 12161 c.11952delG c.(11950-11952)ggfs p.G3984fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3984 Laminin G-like. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GGAGCTCCTGCCCATTCAAAT 0.507 HNSCC(5;0.00058) 89 99 --- --- --- --- HLA-F-AS1 285830 broad.mit.edu 37 6 29709414 29709414 + RNA DEL A A - TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr6:29709414delA ENST00000458236.1 - 0 349 tagtttccccatttcatagat 0.458 7 13 --- --- --- --- SEC63 11231 broad.mit.edu 37 6 108214774 108214774 + Frame_Shift_Del DEL T T - TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr6:108214774delT ENST00000369002.4 - 16 1765 c.1586delA c.(1585-1587)agfs p.K530fs NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 530 SEC63 1. protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding p.K529fs*4(1) endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) TAAAGGTTTCTTTTTTTTTGA 0.368 7 136 --- --- --- --- FAM229B 619208 broad.mit.edu 37 6 112421892 112421892 + Frame_Shift_Del DEL G G - TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr6:112421892delG ENST00000368656.2 + 4 442 c.145delG c.(145-147)gafs p.G49fs FAM229B_ENST00000604268.1_Frame_Shift_Del_p.G49fs NM_001033564.1 NP_001028736.1 family with sequence similarity 229, member B GAGGTGCCCTGGAAGTCATTG 0.403 62 55 --- --- --- --- OLIG3 167826 broad.mit.edu 37 6 137815210 137815212 + In_Frame_Del DEL TGG TGG - TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr6:137815210_137815212delTGG ENST00000367734.2 - 1 319_321 c.96_98delCCA c.(94-99)cag>ca p.HQ32del NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 32 Poly-His. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.Q33K(1) endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) ACGGCTCTCCtggtggtggtggt 0.596 8 161 --- --- --- --- OSBPL3 26031 broad.mit.edu 37 7 24910371 24910371 + Frame_Shift_Del DEL C C - TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr7:24910371delC ENST00000313367.2 - 5 812 c.361delG c.(361-363)agfs p.E121fs OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.E121fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.E121fs|OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.E121fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.E121fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.E121fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.E121fs NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 121 PH. lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 TAGATGTGCTCCTCGGTGTCA 0.448 44 121 --- --- --- --- POU6F2 11281 broad.mit.edu 37 7 39125552 39125553 + Frame_Shift_Del DEL TT TT - TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr7:39125552_39125553delTT ENST00000518318.2 + 2 153_154 c.111_112delTT c.(109-114)accafs p.TS37fs POU6F2_ENST00000464276.2_Frame_Shift_Del_p.TS29fs|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Frame_Shift_Del_p.TS29fs|POU6F2_ENST00000403058.1_Frame_Shift_Del_p.TS37fs P78424 PO6F2_HUMAN POU class 6 homeobox 2 37 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 AGGCTGCTACTTCAGACAGCGA 0.515 13 71 --- --- --- --- ZMIZ2 83637 broad.mit.edu 37 7 44805118 44805119 + Frame_Shift_Ins INS - - C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr7:44805118_44805119insC ENST00000309315.4 + 16 2305_2306 c.2182_2183insC c.(2182-2184)cccfs p.P728fs ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 728 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCCCGGCGCTGCCCCCTTTGCC 0.698 8 37 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100360042 100360042 + RNA DEL C C - rs3857808 TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr7:100360042delC ENST00000542585.1 + 0 4134 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CTGGAACtctctttttttttt 0.557 11 32 --- --- --- --- PRSS3P2 154754 broad.mit.edu 37 7 142482025 142482025 + RNA DEL A A - TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr7:142482025delA ENST00000603901.1 + 0 591 NR_001296.3 TGCAGTGCCCACATGGAGAAG 0.572 7 38 --- --- --- --- ANKRD18B 441459 broad.mit.edu 37 9 33558098 33558099 + Frame_Shift_Ins INS - - T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr9:33558098_33558099insT ENST00000290943.6 + 12 2283_2284 c.2187_2188insT c.(2185-2190)gcttgcfs p.C730fs NM_001244752.1 NP_001231681.1 ankyrin repeat domain 18B NS(1)|breast(1)|endometrium(2)|lung(1)|prostate(1)|stomach(1) 7 TGTTAAATGCATTTGCAAATGA 0.272 11 19 --- --- --- --- MAMDC4 158056 broad.mit.edu 37 9 139749473 139749474 + Frame_Shift_Ins INS - - C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr9:139749473_139749474insC ENST00000445819.1 + 10 1158_1159 c.1108_1109insC c.(1108-1110)cccfs p.P370fs MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Frame_Shift_Ins_p.P370fs Q6UXC1 AEGP_HUMAN MAM domain containing 4 370 MAM 2. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) cgccccccgggcccccgTCCTG 0.678 11 38 --- --- --- --- NUDT22 84304 broad.mit.edu 37 11 63997583 63997584 + RNA INS - - C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr11:63997583_63997584insC ENST00000534988.1 - 0 99 AAAAAAAAAAACCCGCCCAGCC 0.530 5 9 --- --- --- --- SRPR 6734 broad.mit.edu 37 11 126137086 126137087 + Frame_Shift_Ins INS - - T TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr11:126137086_126137087insT ENST00000332118.6 - 4 663_664 c.509_510insA c.(508-510)aggfs p.R170fs SRPR_ENST00000532259.1_Frame_Shift_Ins_p.R142fs NM_003139.3 NP_003130.2 P08240 SRPR_HUMAN signal recognition particle receptor (docking protein) 170 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding p.K170fs*33(2)|p.K170K(1) endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1) 21 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) TCTTGGCCCCCTTTTTTTTGCT 0.436 9 441 --- --- --- --- GOLGA8DP 100132979 broad.mit.edu 37 15 22709277 22709278 + RNA INS - - A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr15:22709277_22709278insA ENST00000314246.8 - 0 1157 CTCTGGATTCCAaaaaaaaaag 0.515 7 67 --- --- --- --- WDR90 197335 broad.mit.edu 37 16 712009 712019 + Frame_Shift_Del DEL CGCGTGCCGGC CGCGTGCCGGC - rs114487868 by1000genomes TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr16:712009_712019delCGCGTGCCGGC ENST00000549091.1 + 32 4075_4085 c.3983_3993delCGCGTGCCGGC c.(3982-3993)afs p.TRAG1328fs WDR90_ENST00000293879.4_Frame_Shift_Del_p.TRAG1328fs NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 1328 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) GTCTGGGACACGCGTGCCGGCCGCTGCTTCT 0.664 45 118 --- --- --- --- MYLK3 91807 broad.mit.edu 37 16 46744687 46744688 + Frame_Shift_Ins INS - - A rs150139689 by1000genomes TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr16:46744687_46744688insA ENST00000394809.4 - 11 2243_2244 c.2128_2129insT c.(2128-2130)cccfs p.P710fs MYLK3_ENST00000536476.1_Frame_Shift_Ins_p.P369fs|MYLK3_ENST00000562104.1_5'UTR NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 710 Protein kinase. cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TAGAAATGGGGACAAGCCACTG 0.470 8 344 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 7 148 --- --- --- --- ZNF287 57336 broad.mit.edu 37 17 16456096 16456098 + In_Frame_Del DEL ACT ACT - TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr17:16456096_16456098delACT ENST00000395824.1 - 6 1975_1977 c.1358_1360delAGT c.(1357-1362)agt>a p.KC453del ZNF287_ENST00000395825.3_In_Frame_Del_p.KC453del Q9HBT7 ZN287_HUMAN zinc finger protein 287 446 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) CAGTCATCACACTTATAGGGTTT 0.438 11 200 --- --- --- --- RIN2 54453 broad.mit.edu 37 20 19955586 19955587 + Frame_Shift_Ins INS - - A TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr20:19955586_19955587insA ENST00000255006.6 + 8 1213_1214 c.1064_1065insA c.(1063-1065)tccfs p.S355fs RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 306 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 CGGACTCGGTCCCCCCCACCCA 0.609 57 75 --- --- --- --- NCOA6 23054 broad.mit.edu 37 20 33330968 33330970 + In_Frame_Del DEL TGC TGC - rs140426729 byFrequency TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chr20:33330968_33330970delTGC ENST00000374796.2 - 12 5660_5662 c.3090_3092delGCA c.(3088-3093)caa>ca p.QQ1030del NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1030 CREBBP-binding region.|Gln-rich.|NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CATCATTtgttgctgctgctgct 0.576 8 281 --- --- --- --- NXF4 55999 broad.mit.edu 37 X 101818542 101818542 + RNA DEL C C - TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71a428fd-2548-4793-a862-1d3fdfd14bb6 cf807f9d-14e4-4e6b-bc28-562f01fb21a9 g.chrX:101818542delC ENST00000360035.2 + 0 1040 NR_002216.1 endometrium(2)|lung(8) 10 GAGATAGTATCCGTCACTCTA 0.453 37 14 --- --- --- ---