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 APOB 338 broad.mit.edu 37 2 21230694 21230694 + Nonsense_Mutation SNP C C A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr2:21230694C>A ENST00000233242.1 - 26 9173 c.9046G>T c.(9046-9048)Gag>Tag p.E3016* NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3016 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CCAGTAAACTCTGCCTTCCCT 0.423000 20 46 1.56452e-12 1.78182e-12 1 1 0 PTH2R 5746 broad.mit.edu 37 2 209302540 209302540 + Missense_Mutation SNP A A C TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr2:209302540A>C ENST00000272847.2 + 4 558 c.345A>C c.(343-345)ttA>ttC p.L115F PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 115 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TGCACAGCTTAAATAAAACAT 0.413000 8 53 0 0 1 0 0 OR5M3 219482 broad.mit.edu 37 11 56237488 56237488 + Silent SNP G G A rs143720540 by1000genomes TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr11:56237488G>A ENST00000312240.2 - 1 526 c.486C>T c.(484-486)taC>taT p.Y162Y NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y162Y(1) NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) AGTACAAGCCGTAAGTCCATA 0.398000 4 73 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50455611 50455611 + Silent SNP G G A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr19:50455611G>A ENST00000447370.2 - 9 1782 c.1692C>T c.(1690-1692)gcC>gcT p.A564A SIGLEC11_ENST00000426971.2_Silent_p.A468A|CTC-326K19.6_ENST00000451973.1_Intron NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 564 cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CAGCTCCCAGGGCAGCCCCCA 0.657000 27 36 0 0 1 0 0 SEL1L2 80343 broad.mit.edu 37 20 13830243 13830243 + Missense_Mutation SNP G G A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr20:13830243G>A ENST00000284951.5 - 20 2029 c.1955C>T c.(1954-1956)aCg>aTg p.T652M SEL1L2_ENST00000378072.5_Missense_Mutation_p.T539M|SEL1L2_ENST00000486903.1_5'UTR Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 652 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 GTTCCATCTCGTTGTGAACTG 0.483000 11 37 0 0 1 0 0 ARMCX2 9823 broad.mit.edu 37 X 100911988 100911988 + Missense_Mutation SNP C C A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chrX:100911988C>A ENST00000328766.5 - 5 1040 c.587G>T c.(586-588)gGt>gTt p.G196V ARMCX2_ENST00000356824.4_Missense_Mutation_p.G196V|ARMCX2_ENST00000330154.2_Missense_Mutation_p.G196V NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 196 Ala-rich. integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 TACCCCAGGACCCTCGGTCAC 0.662000 19 34 1.45105e-14 1.80282e-14 1 1 0 KIAA1967 0 broad.mit.edu 37 8 22476665 22476665 + Nonsense_Mutation SNP G G T TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr8:22476665G>T ENST00000308511.4 + 20 2773 c.2524G>T c.(2524-2526)Gag>Tag p.E842* KIAA1967_ENST00000389279.3_Nonsense_Mutation_p.E842*|KIAA1967_ENST00000520861.1_Nonsense_Mutation_p.E517* Q8N163 K1967_HUMAN 842 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5) 25 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) CCTTGCAGAGGAGAGCCATAA 0.617000 5 15 1.23904e-05 1.33686e-05 1 1 0 MRGPRX2 117194 broad.mit.edu 37 11 19077011 19077011 + Missense_Mutation SNP A A C rs117328742 byFrequency TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr11:19077011A>C ENST00000329773.2 - 2 1026 c.939T>G c.(937-939)agT>agG p.S313R NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 313 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 AGCATCCTTCACTGTGATCCA 0.557000 5 65 0 0 1 0 0 CNIH4 29097 broad.mit.edu 37 1 224544627 224544627 + Translation_Start_Site SNP A A T TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr1:224544627A>T ENST00000465271.1 + 1 76 c.1A>T c.(1-3)Atg>Ttg p.M1L CNIH4_ENST00000366858.3_Start_Codon_SNP_p.M1L|CNIH4_ENST00000366856.3_Start_Codon_SNP_p.M1L|CNIH4_ENST00000468318.1_3'UTR|CNIH4_ENST00000366857.5_Start_Codon_SNP_p.M1L NM_014184.3 NP_054903.1 Q9P003 CNIH4_HUMAN cornichon family AMPA receptor auxiliary protein 4 1 intracellular signal transduction endoplasmic reticulum|integral to membrane protein binding kidney(3)|lung(2)|ovary(2) 7 GBM - Glioblastoma multiforme(131;0.00341) GAGGAGGAGGATGGAGGCGGT 0.647000 3 1 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106968615 106968615 + Missense_Mutation SNP A A T TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr6:106968615A>T ENST00000369066.3 + 2 2795 c.2308A>T c.(2308-2310)Atg>Ttg p.M770L NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 770 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) TTTACATTTGATGCAGAACCT 0.453000 38 47 0 0 1 0 0 SLC26A9 115019 broad.mit.edu 37 1 205892719 205892719 + Missense_Mutation SNP G G C TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr1:205892719G>C ENST00000367135.3 - 14 1632 c.1519C>G c.(1519-1521)Cag>Gag p.Q507E SLC26A9_ENST00000367134.2_Missense_Mutation_p.Q507E|SLC26A9_ENST00000340781.4_Missense_Mutation_p.Q507E NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 507 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity p.Q507K(1) NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) TCCATGACCTGGGCCAGTGCA 0.493000 16 28 0 0 1 0 0 DBR1 51163 broad.mit.edu 37 3 137886109 137886109 + Missense_Mutation SNP C C A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr3:137886109C>A ENST00000260803.4 - 5 681 c.528G>T c.(526-528)tgG>tgT p.W176C DBR1_ENST00000505015.2_5'UTR NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 176 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TACTTCTTGGCCAATCATGAG 0.328000 3 34 0.115264 0.115264 1 1 0 PXDNL 137902 broad.mit.edu 37 8 52339273 52339273 + Missense_Mutation SNP A A G TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr8:52339273A>G ENST00000356297.4 - 13 1671 c.1571T>C c.(1570-1572)gTt>gCt p.V524A PXDNL_ENST00000543296.1_Missense_Mutation_p.V524A NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 524 Ig-like C2-type 4. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) ATTCTTTCCAACCTCGACACT 0.338000 3 5 0 0 1 0 0 CXorf65 158830 broad.mit.edu 37 X 70324246 70324246 + Missense_Mutation SNP G G A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chrX:70324246G>A ENST00000374251.4 - 5 375 c.328C>T c.(328-330)Cgc>Tgc p.R110C CXorf65_ENST00000485951.1_5'UTR A6NEN9 CX065_HUMAN chromosome X open reading frame 65 110 breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3) 10 CATTGTATGCGCAGTGCAACT 0.478000 3 16 0 0 1 0 0 C11orf70 85016 broad.mit.edu 37 11 101951999 101951999 + Missense_Mutation SNP A A C TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr11:101951999A>C ENST00000434758.2 + 6 690 c.662A>C c.(661-663)aAa>aCa p.K221T C11orf70_ENST00000526781.1_Missense_Mutation_p.K221T NM_032930.2 NP_116319.2 Q9BRQ4 CK070_HUMAN chromosome 11 open reading frame 70 221 breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2) 12 all_epithelial(12;0.0137) Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0335) TCTGTCTTTAAAGTTTCAGCT 0.313000 10 29 0 0 1 0 0 KCNV2 169522 broad.mit.edu 37 9 2718725 2718725 + Missense_Mutation SNP G G A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr9:2718725G>A ENST00000382082.3 + 1 1224 c.986G>A c.(985-987)cGc>cAc p.R329H NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 329 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) GACCTGAGGCGCTTCGCGCGC 0.672000 16 37 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32087441 32087441 + Missense_Mutation SNP C C A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr5:32087441C>A ENST00000438447.1 + 20 4275 c.3887C>A c.(3886-3888)gCa>gAa p.A1296E PDZD2_ENST00000282493.3_Missense_Mutation_p.A1296E O15018 PDZD2_HUMAN PDZ domain containing 2 1296 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GGGGAGAAAGCAGCGGCTCCC 0.652000 26 55 1.85244e-09 2.05271e-09 1 1 0 FLNA 0 broad.mit.edu 37 X 153593301 153593301 + Silent SNP G G A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chrX:153593301G>A ENST00000422373.1 - 12 1964 c.1716C>T c.(1714-1716)acC>acT p.T572T FLNA_ENST00000369850.3_Silent_p.T572T|FLNA_ENST00000344736.4_Silent_p.T572T|FLNA_ENST00000360319.4_Silent_p.T572T NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 572 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGCCACACTCGGTGCCCACCT 0.642000 7 156 0 0 1 0 0 ZNF467 168544 broad.mit.edu 37 7 149463284 149463284 + Nonsense_Mutation SNP G G A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr7:149463284G>A ENST00000302017.3 - 5 720 c.307C>T c.(307-309)Cag>Tag p.Q103* ZNF467_ENST00000484747.1_Intron NM_207336.1 NP_997219.1 Q7Z7K2 ZN467_HUMAN zinc finger protein 467 103 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1) 13 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TCTGCCTCCTGATCTTCGTCC 0.542000 19 28 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142479940 142479940 + RNA SNP C C T rs58649169 by1000genomes TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr7:142479940C>T ENST00000603901.1 + 0 72 NR_001296.3 ATGACAAGATCGTTGGGGGCT 0.557000 3 35 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 45 0 0 1 0 0 SPATS1 221409 broad.mit.edu 37 6 44336175 44336175 + Missense_Mutation SNP C C T TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr6:44336175C>T ENST00000288390.2 + 5 981 c.634C>T c.(634-636)Cca>Tca p.P212S SPATS1_ENST00000323108.8_Missense_Mutation_p.P212S Q496A3 SPAS1_HUMAN spermatogenesis associated, serine-rich 1 212 NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1) 14 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ATATATGTACCCAGAACAGAG 0.378000 11 47 0 0 1 0 0 TAX1BP1 8887 broad.mit.edu 37 7 27856087 27856087 + Missense_Mutation SNP T T A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr7:27856087T>A ENST00000396319.2 + 14 1972 c.1884T>A c.(1882-1884)aaT>aaA p.N628K TAX1BP1_ENST00000433216.2_Intron|TAX1BP1_ENST00000265393.6_Intron|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.N652K|TAX1BP1_ENST00000543117.1_Intron NM_006024.6 NP_006015.4 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) binding protein 1 628 anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(3;0.0823) CATTGTCAAATGCACAACCAG 0.378000 37 73 0 0 1 0 0 VPS53 55275 broad.mit.edu 37 17 465847 465847 + Silent SNP T T C TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr17:465847T>C ENST00000437048.2 - 14 1598 c.1452A>G c.(1450-1452)caA>caG p.Q484Q VPS53_ENST00000401468.3_Silent_p.Q207Q|VPS53_ENST00000291074.5_Silent_p.Q455Q|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000446250.2_Silent_p.Q286Q|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000571805.1_Silent_p.Q484Q NM_001128159.2 NP_001121631.1 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 homolog (S. cerevisiae) 484 protein transport endosome membrane|Golgi apparatus breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1) 19 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) GCTGAGAGCATTGCACCATGC 0.567000 6 59 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664056 22664056 + RNA SNP T T C rs3178309 TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr22:22664056T>C ENST00000426066.1 + 0 623 NR_027293.1 ATAAAGTATATGATTTTGTGT 0.348000 4 33 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 20 44 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144994984 144994984 + Missense_Mutation SNP C C T TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr8:144994984C>T ENST00000322810.4 - 32 9585 c.9416G>A c.(9415-9417)cGa>cAa p.R3139Q PLEC_ENST00000354589.3_Missense_Mutation_p.R3002Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R2988Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R3025Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R3029Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R3006Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R2970Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R3002Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R2980Q NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3139 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCGCTCACCTCGCTGCAGCTG 0.687000 19 23 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101198098 101198098 + Silent SNP C C A TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr1:101198098C>A ENST00000294728.2 + 7 1751 c.1650C>A c.(1648-1650)ctC>ctA p.L550L VCAM1_ENST00000370115.1_Silent_p.L351L|VCAM1_ENST00000370119.4_Silent_p.L488L|VCAM1_ENST00000347652.2_Silent_p.L458L NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 550 Ig-like C2-type 6. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) GCAGGCAGCTCCCTAACGGGG 0.478000 8 56 0.00307968 0.00315667 1 1 0 AKR7L 246181 broad.mit.edu 37 1 19597420 19597420 + RNA SNP G G T rs12046875 by1000genomes TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr1:19597420G>T ENST00000420396.2 - 0 223 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 GGCCTTGGTAGCAATTTTCAC 0.532000 3 34 0.00024832 0.000261054 1 1 0 AC007092.1 0 broad.mit.edu 37 2 58687298 58687298 + RNA DEL T T - TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr2:58687298delT ENST00000452840.1 + 0 127 TCTGTGTTTCTTTTTTTTTTC 0.313 2 4 --- --- --- --- KCNN2 3781 broad.mit.edu 37 5 113698631 113698632 + In_Frame_Ins INS - - GCC rs34838882 by1000genomes TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr5:113698631_113698632insGCC ENST00000512097.3 + 2 1177_1178 c.159_160insGCC c.(157-162)gcccgc>gcGCCccgc p.53_54AR>APR KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 53 Poly-Ala. integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CTGCAGCCGCTGCCGCCGCCGC 0.703 7 4 --- --- --- --- SOWAHA 134548 broad.mit.edu 37 5 132150581 132150581 + Frame_Shift_Del DEL A A - TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr5:132150581delA ENST00000378693.2 + 1 1549 c.1268delA c.(1267-1269)tcfs p.Y423fs NM_175873.4 NP_787069.3 Q2M3V2 ANR43_HUMAN sosondowah ankyrin repeat domain family member A 423 CGTCGCGCCTACCAGTACCTG 0.701 2 4 --- --- --- --- SOX4 6659 broad.mit.edu 37 6 21595252 21595263 + In_Frame_Del DEL GGGGGCGGCCAT GGGGGCGGCCAT - TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr6:21595252_21595263delGGGGGCGGCCAT ENST00000244745.1 + 1 1281_1292 c.487_498delGGGGGCGGCCAT c.(487-498)del p.GGGH163del SOX4_ENST00000543472.1_In_Frame_Del_p.GGGH163del NM_003107.2 NP_003098.1 Q06945 SOX4_HUMAN SRY (sex determining region Y)-box 4 163 canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation mitochondrion|nucleus core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 6 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) tggcagtggcgggggcggccatgggggcggcg 0.731 4 2 --- --- --- --- AC005077.5 0 broad.mit.edu 37 7 75804673 75804673 + RNA DEL A A - TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr7:75804673delA ENST00000437494.1 + 0 57 atctcgaaccaaaaaaaaaag 0.542 2 4 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 4 6 --- --- --- --- CSPG4P5 0 broad.mit.edu 37 15 84957480 84957499 + RNA DEL GGCCCCACATCCATTGAGAA GGCCCCACATCCATTGAGAA - TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA ENST00000558801.1 - 0 7230_7249 TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT 0.586 8 16 --- --- --- --- FAM174B 400451 broad.mit.edu 37 15 93198679 93198684 + In_Frame_Del DEL TGGAGC TGGAGC - rs66488707 TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr15:93198679_93198684delTGGAGC ENST00000327355.5 - 1 504_509 c.206_211delGCTCCA c.(205-213)aac>a p.SSN69del NM_207446.2 NP_997329.2 Q3ZCQ3 F174B_HUMAN family with sequence similarity 174, member B 69 integral to membrane endometrium(2)|lung(1) 3 CCACTGCTGTTGGAGCTGGAGCTGCC 0.714 7 3 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|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 17 184 --- --- --- --- NPIPB5 100132247 broad.mit.edu 37 16 22545452 22545454 + In_Frame_Del DEL ATA ATA - TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chr16:22545452_22545454delATA ENST00000424340.1 + 7 1427_1429 c.1148_1150delATA c.(1147-1152)gat>g p.DN383del NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_In_Frame_Del_p.DN383del NM_001135865.1 NP_001129337.1 nuclear pore complex interacting protein family, member B5 TCAGCGGATGATAATCTCAAGAC 0.576 3 5 --- --- --- --- RP1-154K9.2 0 broad.mit.edu 37 X 42384501 42384501 + RNA DEL A A - rs58099801 TCGA-BJ-A0Z9-01A-11D-A10S-08 TCGA-BJ-A0Z9-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498dad0c-0eb2-47a1-8a9a-819e7e3aa289 f58ba787-903f-4adf-8a27-4378692a9dd0 g.chrX:42384501delA ENST00000411879.1 + 0 523 ttgtctcaggaaaaaaaaaaa 0.418 2 4 --- --- --- ---