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 ALOX15 246 broad.mit.edu 37 17 4535037 4535037 + Missense_Mutation SNP C C T TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr17:4535037C>T ENST00000570836.1 - 15 1943 c.1847G>A c.(1846-1848)gGc>gAc p.G616D ALOX15_ENST00000293761.3_Missense_Mutation_p.G616D|ALOX15_ENST00000574640.1_Missense_Mutation_p.G577D|ALOX15_ENST00000545513.1_Missense_Mutation_p.G638D P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 616 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) AGGCTCAGGGCCCGAAAAATA 0.572000 6 161 0 0 0.217242 0 0 UBBP4 23666 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 4 123 0 0 0.150653 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 32 0 0 0.115264 0 0 IGKV1D-43 28891 broad.mit.edu 37 2 90249265 90249265 + RNA SNP C C A TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr2:90249265C>A ENST00000468879.1 + 0 402 TATTATGCATCCAGTTTGCAA 0.498000 13 234 4.36969e-10 5.26349e-10 0.435327 1 0 AHI1 54806 broad.mit.edu 37 6 135784313 135784313 + Missense_Mutation SNP T T C TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr6:135784313T>C ENST00000367800.4 - 6 1097 c.881A>G c.(880-882)cAa>cGa p.Q294R AHI1_ENST00000457866.2_Missense_Mutation_p.Q294R|AHI1_ENST00000327035.6_Missense_Mutation_p.Q294R NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 294 adherens junction|cilium|microtubule basal body p.Q294R(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) TGTATCATCTTGCATGCTGTC 0.313000 4 70 0 0 0.150653 0 0 SCN8A 6334 broad.mit.edu 37 12 52164405 52164405 + Missense_Mutation SNP G G A TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr12:52164405G>A ENST00000354534.5 + 19 3761 c.3583G>A c.(3583-3585)Gtg>Atg p.V1195M SCN8A_ENST00000545061.1_Missense_Mutation_p.V1195M NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1195 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CTTCCTCATCGTGGAGCACAA 0.567000 3 42 0 0 0.115264 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). 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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) 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) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 4 28 0 0 0.184627 0 0 RPL5 6125 broad.mit.edu 37 1 93306107 93306107 + Splice_Site SNP G G T TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr1:93306107G>T ENST00000370321.3 + 7 795 c.e7-1 NM_000969.3 NP_000960.2 P46777 RL5_HUMAN ribosomal protein L5 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) CTTTGTTTCAGATGGAGGAGA 0.373000 6 111 3.59834e-05 3.97316e-05 0.217242 1 0 FRG1B 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 6 98 0 0 0.278610 0 0 CDH9 1007 broad.mit.edu 37 5 26915914 26915914 + Missense_Mutation SNP A A T TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr5:26915914A>T ENST00000231021.4 - 3 519 c.347T>A c.(346-348)cTa>cAa p.L116Q NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 116 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L116Q(1) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TTCTCTGTCTAGTTTCTTTGC 0.383000 5 177 0 0 0.184627 0 0 IGKV3-11 28914 broad.mit.edu 37 2 89326699 89326699 + RNA SNP A A G TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr2:89326699A>G ENST00000483158.1 - 0 360 ACAGTAATAAACTGCAAAATC 0.493000 4 129 0 0 0.184627 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25258179 25258179 + Silent SNP T T C TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr16:25258179T>C ENST00000328086.7 - 5 2141 c.1338A>G c.(1336-1338)agA>agG p.R446R NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 446 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) TTCTCTTCAGTCTGGGGACAG 0.483000 5 118 0 0 0.217242 0 0 TG 7038 broad.mit.edu 37 8 134034380 134034380 + Missense_Mutation SNP G G A TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr8:134034380G>A ENST00000220616.4 + 40 7061 c.7021G>A c.(7021-7023)Ggc>Agc p.G2341S TG_ENST00000519543.1_Missense_Mutation_p.G474S|TG_ENST00000377869.1_Missense_Mutation_p.G2284S|TG_ENST00000542445.1_Missense_Mutation_p.G711S NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2341 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GGGTGTCTTCGGCTTCCTGAG 0.617000 8 123 0 0 0.278610 0 0 FRG1B 284802 broad.mit.edu 37 20 29625955 29625955 + Nonsense_Mutation SNP A A T TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr20:29625955A>T ENST00000278882.3 + 5 579 c.199A>T c.(199-201)Aga>Tga p.R67* FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67* endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATTGGACCAAGAGAACAATG 0.338000 4 66 0 0 0.184627 0 0 BABAM1 29086 broad.mit.edu 37 19 17384762 17384762 + Missense_Mutation SNP G G A TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr19:17384762G>A ENST00000359435.4 + 4 587 c.394G>A c.(394-396)Gtg>Atg p.V132M BABAM1_ENST00000448635.2_3'UTR|BABAM1_ENST00000598188.1_Missense_Mutation_p.V132M|BABAM1_ENST00000447614.2_Missense_Mutation_p.V132M|BABAM1_ENST00000595632.1_Intron|CTD-2278I10.6_ENST00000596542.1_Missense_Mutation_p.V54M|BABAM1_ENST00000601043.1_Missense_Mutation_p.V132M NM_001033549.1 NP_001028721.1 Q9NWV8 BABA1_HUMAN BRISC and BRCA1 A complex member 1 132 VWFA-like. chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation BRCA1-A complex|BRISC complex|cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 TGAGATGTTCGTGCGGACAAA 0.577000 3 35 0 0 0.115264 0 0 DAPP1 27071 broad.mit.edu 37 4 100761541 100761541 + Missense_Mutation SNP A A G TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr4:100761541A>G ENST00000296414.7 + 3 401 c.320A>G c.(319-321)aAg>aGg p.K107R DAPP1_ENST00000512369.1_Missense_Mutation_p.K107R Q9UN19 DAPP1_HUMAN dual adaptor of phosphotyrosine and 3-phosphoinositides 107 SH2. signal transduction cytoplasm|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity endometrium(1)|kidney(1)|lung(4) 6 OV - Ovarian serous cystadenocarcinoma(123;7.04e-09) GATTTTGTCAAGCATTTTGCA 0.363000 4 35 0 0 0.150653 0 0 CHRM3 1131 broad.mit.edu 37 1 240072343 240072343 + Missense_Mutation SNP G G T TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr1:240072343G>T ENST00000255380.4 + 5 2371 c.1592G>T c.(1591-1593)tGg>tTg p.W531L NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 531 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity p.W531S(2) breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CTGGGCTACTGGCTGTGCTAC 0.488000 8 103 1.06961e-07 1.25977e-07 0.278610 1 0 SLC39A10 57181 broad.mit.edu 37 2 196593042 196593042 + Missense_Mutation SNP G G A TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr2:196593042G>A ENST00000409086.3 + 9 2581 c.2306G>A c.(2305-2307)gGc>gAc p.G769D SLC39A10_ENST00000541054.1_Missense_Mutation_p.G319D|SLC39A10_ENST00000359634.5_Missense_Mutation_p.G769D NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 769 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) GTCACTGCAGGCATGTTCCTC 0.413000 4 132 0 0 0.150653 0 0 ZNF131 7690 broad.mit.edu 37 5 43139296 43139296 + Missense_Mutation SNP A A C TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr5:43139296A>C ENST00000509634.1 + 3 712 c.256A>C c.(256-258)Att>Ctt p.I86L ZNF131_ENST00000399534.1_Missense_Mutation_p.I86L|ZNF131_ENST00000509156.1_Missense_Mutation_p.I86L|ZNF131_ENST00000505606.2_Missense_Mutation_p.I86L|ZNF131_ENST00000306938.4_Missense_Mutation_p.I86L|ZNF131_ENST00000509931.1_Intron P52739 ZN131_HUMAN zinc finger protein 131 86 BTB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 TCGCCATTTAATTGAGTTCAC 0.328000 4 94 0 0 0.184627 0 0 SYNCRIP 10492 broad.mit.edu 37 6 86329003 86329003 + Missense_Mutation SNP G G C TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr6:86329003G>C ENST00000355238.6 - 9 1347 c.1141C>G c.(1141-1143)Cga>Gga p.R381G SYNCRIP_ENST00000369622.3_Missense_Mutation_p.R381G NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 381 RRM 3. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) GCACCATCTCGCTCATCAAAA 0.333000 7 83 0 0 0.335167 0 0 DOCK2 1794 broad.mit.edu 37 5 169504819 169504819 + Missense_Mutation SNP C C A TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr5:169504819C>A ENST00000256935.8 + 48 5052 c.4972C>A c.(4972-4974)Ccc>Acc p.P1658T DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.P719T|DOCK2_ENST00000520908.1_Missense_Mutation_p.P1150T NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1658 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTGCAGCACCCCCAGCAAGCC 0.597000 4 51 0.00909568 0.00983818 0.150653 1 0 FAT3 120114 broad.mit.edu 37 11 92613995 92613995 + Missense_Mutation SNP G G A TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr11:92613995G>A ENST00000298047.6 + 22 12243 c.12226G>A c.(12226-12228)Gat>Aat p.D4076N FAT3_ENST00000525166.1_Missense_Mutation_p.D3926N|FAT3_ENST00000533797.1_Missense_Mutation_p.D411N|FAT3_ENST00000409404.2_Missense_Mutation_p.D4076N Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4076 EGF-like 3. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGGATCCTGCGATCCAATAGG 0.453000 TCGA Ovarian(4;0.039) 15 214 0 0 0.500413 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 60 0 0 0.115264 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20128845 20128845 + Missense_Mutation SNP C C T TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr22:20128845C>T ENST00000334554.7 + 8 1141 c.1000C>T c.(1000-1002)Cgc>Tgc p.R334C ZDHHC8_ENST00000405930.3_Missense_Mutation_p.R334C|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.R242C|ZDHHC8_ENST00000468112.1_3'UTR NM_013373.3 NP_037505.1 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC-type containing 8 334 cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 20 Colorectal(54;0.0993) GCAGACCCCGCGCCCAGGCAG 0.642000 3 39 0 0 0.150653 0 0 A2M 2 broad.mit.edu 37 12 9262615 9262615 + Missense_Mutation SNP C C T TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr12:9262615C>T ENST00000318602.7 - 6 828 c.521G>A c.(520-522)cGc>cAc p.R174H NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 174 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding p.R174H(1) breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) TTGTGCGATGCGATTTCCTTT 0.423000 9 125 0 0 0.361761 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 65 0 0 0.150653 0 0 PLXNB1 5364 broad.mit.edu 37 3 48453984 48453984 + Missense_Mutation SNP G G A TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr3:48453984G>A ENST00000358536.4 - 26 5169 c.4900C>T c.(4900-4902)Cgt>Tgt p.R1634C PLXNB1_ENST00000448774.2_Missense_Mutation_p.R245C|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R1451C|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R1634C|PLXNB1_ENST00000358459.4_Missense_Mutation_p.R1451C NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1634 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACGTAGGCACGGTCCCGAGCT 0.587000 5 50 0 0 0.184627 0 0 UGT2B4 7363 broad.mit.edu 37 4 70355193 70355193 + Silent SNP A A G TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr4:70355193A>G ENST00000305107.6 - 3 1012 c.966T>C c.(964-966)aaT>aaC p.N322N UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Silent_p.N322N|UGT2B4_ENST00000381096.3_Silent_p.N186N NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 322 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 ATGCAATTACATTGGCCCTTT 0.403000 9 205 0 0 0.307466 0 0 KRTAP9-9 81870 broad.mit.edu 37 17 39411940 39411940 + Silent SNP C C T TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr17:39411940C>T ENST00000394008.1 + 1 305 c.303C>T c.(301-303)ggC>ggT p.G101G NM_030975.2 NP_112237.2 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 101 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCAGCTGTGGCCAGAGCAGCT 0.617000 5 165 0 0 0.184627 0 0 ALPP 250 broad.mit.edu 37 2 233244593 233244593 + Nonsense_Mutation SNP C C T TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr2:233244593C>T ENST00000392027.2 + 5 873 c.604C>T c.(604-606)Cag>Tag p.Q202* AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 202 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) CTCCGCCCGCCAGGAGGGGTG 0.672000 4 58 0 0 0.184627 0 0 SPOP 8405 broad.mit.edu 37 17 47696461 47696461 + Missense_Mutation SNP C C T TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr17:47696461C>T ENST00000393331.3 - 7 832 c.362G>A c.(361-363)cGg>cAg p.R121Q SPOP_ENST00000393328.2_Missense_Mutation_p.R121Q|SPOP_ENST00000347630.2_Missense_Mutation_p.R121Q|SPOP_ENST00000503676.1_Missense_Mutation_p.R121Q|SPOP_ENST00000504102.1_Missense_Mutation_p.R121Q NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 121 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.R121Q(1) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 CCTATATGCCCGTTGACTCTC 0.433000 Prostate(2;0.17) 6 159 0 0 0.217242 0 0 PECR 55825 broad.mit.edu 37 2 216931198 216931198 + Missense_Mutation SNP C C G TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr2:216931198C>G ENST00000265322.7 - 2 242 c.168G>C c.(166-168)aaG>aaC p.K56N PECR_ENST00000497889.1_5'UTR NM_018441.5 NP_060911.2 Q9BY49 PECR_HUMAN peroxisomal trans-2-enoyl-CoA reductase 56 fatty acid biosynthetic process|regulation of apoptosis peroxisome binding|trans-2-enoyl-CoA reductase (NADPH) activity endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1) 14 Renal(323;0.0327) Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Adenine(DB00173) CTGCCGCAGACTTCAATCTCT 0.488000 4 110 0 0 0.150653 0 0 ATP1A4 480 broad.mit.edu 37 1 160147371 160147371 + Silent SNP A A C TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr1:160147371A>C ENST00000368081.4 + 18 3124 c.2653A>C c.(2653-2655)Agg>Cgg p.R885R ATP1A4_ENST00000470705.1_Silent_p.R21R|ATP1A4_ENST00000418334.1_3'UTR NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 885 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GAATGGTTTTAGGCCTGTTGA 0.507000 4 98 0 0 0.150653 0 0 PCSK9 255738 broad.mit.edu 37 1 55505552 55505553 + In_Frame_Ins INS - - CTG rs35574083 TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr1:55505552_55505553insCTG ENST00000302118.5 + 1 332_333 c.42_43insCTG c.(40-45)cctgct>ccCTGtgct p.14_15PA>PCA PCSK9_ENST00000452118.2_In_Frame_Ins_p.14_15PA>PCA NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 14 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding p.P14_L15insL(2) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 Ggccgctgccactgctgctgct 0.703 3 3 --- --- --- --- SRGAP2-AS1 100873165 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr1:121116645delT ENST00000437515.1 - 0 329 CAAGCCCCCCTTTAAAAAAAA 0.393 7 62 --- --- --- --- ZNF268 10795 broad.mit.edu 37 12 133779606 133779606 + Frame_Shift_Del DEL T T - TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr12:133779606delT ENST00000536435.2 + 6 1664 c.1334delT c.(1333-1335)gtfs p.V445fs ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000228289.5_Frame_Shift_Del_p.V445fs|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Frame_Shift_Del_p.V284fs|ZNF268_ENST00000542986.2_3'UTR NM_001165885.1|NM_003415.2 NP_001159357.1|NP_003406.1 Q14587 ZN268_HUMAN zinc finger protein 268 445 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1) 24 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) AAACCTTATGTTTGTAGTGAT 0.408 2 4 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 4 8 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0ce6f3ed-bdbc-4b70-9db4-2e48f4bf644d 9659d703-504e-4b47-a4f4-b376dbbbfbac g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 8 301 --- --- --- ---