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 TJP1 7082 broad.mit.edu 37 15 30024898 30024898 + Missense_Mutation SNP C C T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr15:30024898C>T ENST00000346128.6 - 14 2332 c.1858G>A c.(1858-1860)Gat>Aat p.D620N TJP1_ENST00000400011.2_Missense_Mutation_p.D624N|TJP1_ENST00000545208.2_Missense_Mutation_p.D620N|TJP1_ENST00000356107.6_Missense_Mutation_p.D620N NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 620 Guanylate kinase-like. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) GCGGACAAATCCTCTCTGCTT 0.433000 46 95 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 4 87 0 0 1 0 0 ITGA6 0 broad.mit.edu 37 2 173366600 173366600 + Missense_Mutation SNP A A T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr2:173366600A>T ENST00000375221.2 + 26 3535 c.3332A>T c.(3331-3333)gAt>gTt p.D1111V ITGA6_ENST00000409080.1_Intron|ITGA6_ENST00000409532.1_Missense_Mutation_p.D953V|ITGA6_ENST00000264107.7_Missense_Mutation_p.D1072V|ITGA6_ENST00000264106.6_Intron|ITGA6_ENST00000343713.4_Missense_Mutation_p.D1067V|AC093818.1_ENST00000442417.1_RNA P23229 ITA6_HUMAN integrin, alpha 6 0 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) CTTACTTCTGATGCATAGTAT 0.383000 18 92 0 0 1 0 0 SART1 9092 broad.mit.edu 37 11 65733982 65733982 + Silent SNP A A G TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr11:65733982A>G ENST00000312397.5 + 9 1235 c.1143A>G c.(1141-1143)acA>acG p.T381T NM_005146.4 NP_005137.1 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T cells 381 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCTGAGCACAGTGGGGCCCC 0.677000 5 15 0 0 1 0 0 SLC17A7 57030 broad.mit.edu 37 19 49933845 49933845 + Silent SNP C C T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr19:49933845C>T ENST00000221485.3 - 12 1785 c.1614G>A c.(1612-1614)ccG>ccA p.P538P SLC17A7_ENST00000600601.1_Silent_p.P471P|SLC17A7_ENST00000543531.1_Silent_p.P526P NM_020309.3 NP_064705.1 Q9P2U7 VGLU1_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 7 538 Pro-rich. glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) CATAGGAGGGCGGGGGTGCAG 0.647000 9 8 0 0 1 0 0 PIK3R1 5295 broad.mit.edu 37 5 67589138 67589138 + Missense_Mutation SNP G G A TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr5:67589138G>A ENST00000521381.1 + 10 1742 c.1126G>A c.(1126-1128)Gga>Aga p.G376R PIK3R1_ENST00000523872.1_Missense_Mutation_p.G13R|PIK3R1_ENST00000320694.8_Missense_Mutation_p.G76R|PIK3R1_ENST00000336483.5_Missense_Mutation_p.G106R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000396611.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G376R NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 376 SH2 1. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.G376R(5)|p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CAGGAAAGGGGGAAATAACAA 0.308000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 40 70 0 0 1 0 0 ITGAL 0 broad.mit.edu 37 16 30530025 30530025 + Silent SNP C C T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr16:30530025C>T ENST00000356798.6 + 29 3393 c.3213C>T c.(3211-3213)aaC>aaT p.N1071N ITGAL_ENST00000358164.5_Silent_p.N987N|ITGAL_ENST00000433423.2_Silent_p.N305N NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 1071 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) ATGGCAGCAACGCCTCCCTGG 0.612000 12 45 0 0 1 0 0 GRPEL2 134266 broad.mit.edu 37 5 148727842 148727842 + Missense_Mutation SNP C C T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr5:148727842C>T ENST00000329271.3 + 2 195 c.85C>T c.(85-87)Ccg>Tcg p.P29S RP11-394O4.4_ENST00000521295.1_RNA|GRPEL2_ENST00000513661.1_Missense_Mutation_p.P29S|GRPEL2_ENST00000507562.1_3'UTR|GRPEL2_ENST00000416916.2_Missense_Mutation_p.P29S NM_152407.3 NP_689620.2 Q8TAA5 GRPE2_HUMAN GrpE-like 2, mitochondrial (E. coli) 29 protein folding mitochondrial matrix adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAGGGGATGGCCGCTTCCATT 0.517000 28 105 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35923243 35923243 + Splice_Site SNP A A G TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr13:35923243A>G ENST00000540320.1 + 37 6437 c.e37-1 NBEA_ENST00000310336.4_Splice_Site|NBEA_ENST00000400445.3_Splice_Site|NBEA_ENST00000379939.2_Splice_Site Q8NFP9 NBEA_HUMAN neurobeachin cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TTTTCTTTTTAGATTACTGTG 0.313000 16 40 0 0 1 0 0 STMN3 50861 broad.mit.edu 37 20 62272736 62272736 + Silent SNP G G A TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr20:62272736G>A ENST00000370053.1 - 5 579 c.498C>T c.(496-498)gcC>gcT p.A166A STMN3_ENST00000540534.1_Silent_p.A155A NM_001276310.1|NM_015894.2 NP_001263239.1|NP_056978.2 Q9NZ72 STMN3_HUMAN stathmin-like 3 166 cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity cytoplasm protein domain specific binding kidney(1)|large_intestine(1)|lung(5)|prostate(1) 8 all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13) Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559) TGCGCACCTCGGCCGCGTGCA 0.716000 5 3 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123192264 123192264 + Missense_Mutation SNP G G A TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr4:123192264G>A ENST00000264501.4 + 47 7958 c.7585G>A c.(7585-7587)Gtg>Atg p.V2529M KIAA1109_ENST00000455637.1_Missense_Mutation_p.V2529M|KIAA1109_ENST00000388738.3_Missense_Mutation_p.V2529M Q2LD37 K1109_HUMAN KIAA1109 2529 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GGAAAAGTCCGTGTGCACCCC 0.438000 52 143 0 0 1 0 0 PCDHGA1 0 broad.mit.edu 37 5 140711827 140711827 + Missense_Mutation SNP C C T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr5:140711827C>T ENST00000517417.1 + 1 1576 c.1576C>T c.(1576-1578)Cgg>Tgg p.R526W PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R526W NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAGCAGTTCCGGGACATGCA 0.587000 72 255 0 0 1 0 0 TPST2 8459 broad.mit.edu 37 22 26937282 26937282 + Silent SNP G G A rs146078388 byFrequency TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr22:26937282G>A ENST00000338754.4 - 3 585 c.315C>T c.(313-315)cgC>cgT p.R105R TPST2_ENST00000398110.2_Silent_p.R105R|TPST2_ENST00000403880.1_Silent_p.R105R NM_003595.3 NP_003586.3 O60704 TPST2_HUMAN tyrosylprotein sulfotransferase 2 105 peptidyl-tyrosine sulfation endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity central_nervous_system(1)|large_intestine(1)|lung(5) 7 TGGCCAGCACGCGCGGGATGA 0.706000 7 25 0 0 1 0 0 RBM6 10180 broad.mit.edu 37 3 50099412 50099412 + Silent SNP C C T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr3:50099412C>T ENST00000443081.1 + 15 2980 c.2061C>T c.(2059-2061)ccC>ccT p.P687P RBM6_ENST00000442092.1_Silent_p.P297P|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000266022.4_Silent_p.P819P|RBM6_ENST00000539992.1_Silent_p.P161P|RBM6_ENST00000422955.1_Silent_p.P297P P78332 RBM6_HUMAN RNA binding motif protein 6 819 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) TCTATGTGCCCCAGGATCCTG 0.438000 20 41 0 0 1 0 0 FXR1 0 broad.mit.edu 37 3 180679280 180679280 + Missense_Mutation SNP G G T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr3:180679280G>T ENST00000357559.4 + 11 1399 c.1015G>T c.(1015-1017)Ggc>Tgc p.G339C FXR1_ENST00000480918.1_Missense_Mutation_p.G326C|FXR1_ENST00000468861.1_Missense_Mutation_p.G254C|FXR1_ENST00000305586.7_Missense_Mutation_p.G254C|FXR1_ENST00000491062.1_Missense_Mutation_p.G290C|FXR1_ENST00000445140.2_Missense_Mutation_p.G339C NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 339 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) TGTATTTGTTGGCACTAAAGA 0.308000 4 123 0.150653 0.152405 1 1 0 REG3G 130120 broad.mit.edu 37 2 79253917 79253917 + Missense_Mutation SNP A A G TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr2:79253917A>G ENST00000272324.5 + 3 339 c.155A>G c.(154-156)tAt>tGt p.Y52C REG3G_ENST00000409471.1_Missense_Mutation_p.Y52C|REG3G_ENST00000393897.2_Missense_Mutation_p.Y52C NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 52 C-type lectin. acute-phase response extracellular region sugar binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TCCCCCTGCTATGCCTTGTTT 0.542000 13 23 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10615122 10615122 + Missense_Mutation SNP C C T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr11:10615122C>T ENST00000547195.1 - 16 2319 c.1819G>A c.(1819-1821)Gtt>Att p.V607I MRVI1_ENST00000527509.2_Missense_Mutation_p.V607I|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000421747.1_Missense_Mutation_p.V689I|MRVI1_ENST00000423302.2_Missense_Mutation_p.V698I|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000552103.1_Missense_Mutation_p.V607I|MRVI1_ENST00000424001.1_Missense_Mutation_p.V383I|MRVI1_ENST00000541483.1_Missense_Mutation_p.V492I|MRVI1_ENST00000436272.1_Missense_Mutation_p.V671I|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000558540.1_Missense_Mutation_p.V383I|MRVI1_ENST00000545852.1_Missense_Mutation_p.V383I|MRVI1_ENST00000531107.1_Missense_Mutation_p.V690I|MRVI1_ENST00000534266.2_Missense_Mutation_p.V383I|MRVI1-AS1_ENST00000525578.1_RNA NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 671 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) ACCACAGCAACGCTGACCCTC 0.517000 30 29 0 0 1 0 0 PAQR8 85315 broad.mit.edu 37 6 52268301 52268301 + Missense_Mutation SNP C C T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr6:52268301C>T ENST00000442253.2 + 2 464 c.290C>T c.(289-291)gCc>gTc p.A97V PAQR8_ENST00000360726.3_Missense_Mutation_p.A97V NM_133367.4 NP_588608.1 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member VIII 97 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) TGGGCCTTTGCCGAGGCTGAG 0.572000 15 66 0 0 1 0 0 CKS2 1164 broad.mit.edu 37 9 91926227 91926227 + Missense_Mutation SNP A A G TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr9:91926227A>G ENST00000314355.6 + 1 115 c.20A>G c.(19-21)tAc>tGc p.Y7C NM_001827.1 NP_001818.1 P33552 CKS2_HUMAN CDC28 protein kinase regulatory subunit 2 7 cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization cyclin-dependent protein kinase regulator activity kidney(1)|large_intestine(1) 2 AAGCAGATCTACTACTCGGAC 0.642000 14 17 0 0 1 0 0 SPOPL 339745 broad.mit.edu 37 2 139308482 139308482 + Silent SNP G G A TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr2:139308482G>A ENST00000280098.4 + 4 589 c.210G>A c.(208-210)agG>agA p.R70R NM_001001664.2 NP_001001664.1 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 70 MATH. nucleus breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2) 21 BRCA - Breast invasive adenocarcinoma(221;0.0296) GGTGCCTGAGGGTAAACCCAA 0.378000 35 153 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25444675 25444675 + RNA SNP C C A TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr15:25444675C>A ENST00000424208.1 + 0 1811 SNHG14_ENST00000424333.1_RNA|SNORD115-16_ENST00000363887.1_RNA NR_003305.1 ACGCTGAGGCCCAGCCTAGGT 0.493000 73 217 4.20717e-43 4.40993e-43 1 1 0 ABCC10 89845 broad.mit.edu 37 6 43400462 43400462 + Silent SNP C C T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr6:43400462C>T ENST00000244533.3 + 1 974 c.615C>T c.(613-615)tgC>tgT p.C205C ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Silent_p.C248C NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 248 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.C205C(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) AGGACATTTGCCGCCTCCCCC 0.642000 3 35 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 60 67 0 0 1 0 0 ESRRG 2104 broad.mit.edu 37 1 216824353 216824353 + Missense_Mutation SNP C C T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr1:216824353C>T ENST00000391890.3 - 5 999 c.482G>A c.(481-483)cGc>cAc p.R161H ESRRG_ENST00000408911.3_Missense_Mutation_p.R184H|ESRRG_ENST00000361525.3_Missense_Mutation_p.R161H|ESRRG_ENST00000493748.1_Missense_Mutation_p.R161H|ESRRG_ENST00000493603.1_Missense_Mutation_p.R161H|ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000361395.2_Missense_Mutation_p.R161H|ESRRG_ENST00000360012.3_Missense_Mutation_p.R161H|ESRRG_ENST00000487276.1_Missense_Mutation_p.R161H|ESRRG_ENST00000366938.2_Missense_Mutation_p.R161H|ESRRG_ENST00000359162.2_Missense_Mutation_p.R161H|ESRRG_ENST00000366940.2_Missense_Mutation_p.R161H|ESRRG_ENST00000366937.1_Missense_Mutation_p.R189H NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 184 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) CTTCATGAAGCGGCAAGCCTG 0.448000 26 152 0 0 1 0 0 NEDD9 4739 broad.mit.edu 37 6 11190997 11190997 + Missense_Mutation SNP A A G TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr6:11190997A>G ENST00000379446.5 - 5 1271 c.1105T>C c.(1105-1107)Tct>Cct p.S369P NEDD9_ENST00000504387.1_Missense_Mutation_p.S369P|RP3-510L9.1_ENST00000500636.2_RNA NM_001271033.1|NM_006403.3 NP_001257962.1|NP_006394.1 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 369 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) CTGGAGAAAGACAATCGGTTG 0.547000 55 49 0 0 1 0 0 ZNF546 339327 broad.mit.edu 37 19 40520711 40520711 + Missense_Mutation SNP C C G TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr19:40520711C>G ENST00000347077.4 + 7 1750 c.1534C>G c.(1534-1536)Ctc>Gtc p.L512V ZNF546_ENST00000600094.1_Missense_Mutation_p.L486V|ZNF546_ENST00000596894.1_Intron NM_178544.3 NP_848639.2 Q86UE3 ZN546_HUMAN zinc finger protein 546 512 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TCGCTATCATCTCACTCAACA 0.403000 41 16 0 0 1 0 0 PPP6R3 55291 broad.mit.edu 37 11 68355456 68355456 + Missense_Mutation SNP A A G TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr11:68355456A>G ENST00000393799.2 + 16 1961 c.1694A>G c.(1693-1695)aAc>aGc p.N565S PPP6R3_ENST00000527403.2_Missense_Mutation_p.N530S|PPP6R3_ENST00000534534.1_Missense_Mutation_p.N333S|PPP6R3_ENST00000393801.3_Missense_Mutation_p.N565S|PPP6R3_ENST00000393800.2_Missense_Mutation_p.N565S|PPP6R3_ENST00000265636.5_Missense_Mutation_p.N485S|PPP6R3_ENST00000524845.1_Missense_Mutation_p.N536S|PPP6R3_ENST00000529710.1_Missense_Mutation_p.N485S|PPP6R3_ENST00000524904.1_Missense_Mutation_p.N559S|PPP6R3_ENST00000265637.4_Missense_Mutation_p.N519S Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 565 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TTTGGCTTCAACGATGAGAAG 0.428000 9 223 0 0 1 0 0 GPX6 257202 broad.mit.edu 37 6 28472105 28472105 + Missense_Mutation SNP G G A TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr6:28472105G>A ENST00000474923.1 - 4 573 c.530C>T c.(529-531)aCa>aTa p.T177I GPX6_ENST00000361902.1_Silent_p.D210D P59796 GPX6_HUMAN glutathione peroxidase 6 (olfactory) 0 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) ACTCCAGGATGTCTGACTTGA 0.502000 59 71 0 0 1 0 0 LINC00471 0 broad.mit.edu 37 2 232373630 232373630 + RNA SNP G G A TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr2:232373630G>A ENST00000313064.2 - 0 788 NR_024079.1 aaaaaaaaaaggaaaaaGAAA 0.468000 3 14 0 0 1 0 0 ZNF592 9640 broad.mit.edu 37 15 85326612 85326612 + Nonsense_Mutation SNP C C T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr15:85326612C>T ENST00000299927.3 + 1 728 c.706C>T c.(706-708)Cga>Tga p.R236* ZNF592_ENST00000560079.2_Nonsense_Mutation_p.R236* Q92610 ZN592_HUMAN zinc finger protein 592 236 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) GGATGCCACTCGATTCTTCGG 0.567000 26 99 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48741328 48741328 + Missense_Mutation SNP C C G TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr17:48741328C>G ENST00000285238.8 + 10 1274 c.1194C>G c.(1192-1194)aaC>aaG p.N398K ABCC3_ENST00000427699.1_Missense_Mutation_p.N398K NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 398 ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TTATCACCAACTCAGTCAAAC 0.587000 8 90 0 0 1 0 0 XPR1 9213 broad.mit.edu 37 1 180804077 180804077 + Missense_Mutation SNP A A C TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr1:180804077A>C ENST00000367590.4 + 10 1400 c.1202A>C c.(1201-1203)aAc>aCc p.N401T XPR1_ENST00000367589.3_Missense_Mutation_p.N401T NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 401 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 GATCAGCTGAACAGCCTGTCA 0.418000 7 45 0 0 1 0 0 ABHD15 116236 broad.mit.edu 37 17 27893210 27893210 + Missense_Mutation SNP C C T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr17:27893210C>T ENST00000307201.4 - 1 945 c.775G>A c.(775-777)Gcc>Acc p.A259T RP11-68I3.2_ENST00000581474.1_RNA NM_198147.2 NP_937790.2 Q6UXT9 ABH15_HUMAN abhydrolase domain containing 15 259 extracellular region carboxylesterase activity breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 10 ATGCAGGCGGCGCCTGTCACG 0.711000 9 3 0 0 1 0 0 MCCC1 56922 broad.mit.edu 37 3 182759530 182759530 + Silent SNP T T C TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr3:182759530T>C ENST00000492597.1 - 10 1467 c.765A>G c.(763-765)gcA>gcG p.A255A MCCC1_ENST00000539926.1_Silent_p.A229A|MCCC1_ENST00000265594.4_Silent_p.A364A Q96RQ3 MCCA_HUMAN methylcrotonoyl-CoA carboxylase 1 (alpha) 364 ATP-grasp.|Biotin carboxylation. biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2) 40 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) TCTTCTCTCCTGCTGCAATCT 0.403000 82 120 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995929 140995929 + Silent SNP C C T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chrX:140995929C>T ENST00000285879.4 + 4 3025 c.2739C>T c.(2737-2739)gaC>gaT p.D913D MAGEC1_ENST00000406005.2_5'UTR NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 913 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AAAAGGTGGACGAGTTGGCGC 0.488000 HNSCC(15;0.026) 12 182 0 0 1 0 0 TRPV3 162514 broad.mit.edu 37 17 3458040 3458040 + Silent SNP G G A TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr17:3458040G>A ENST00000301365.4 - 2 236 c.105C>T c.(103-105)acC>acT p.T35T TRPV3_ENST00000572519.1_Silent_p.T35T|TRPV3_ENST00000576742.1_Silent_p.T35T Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, subfamily V, member 3 35 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) TCTTTGTGGGGGTGATCTCCG 0.657000 25 25 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38320234 38320234 + Missense_Mutation SNP C C T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr13:38320234C>T ENST00000379705.3 - 3 1594 c.737G>A c.(736-738)cGg>cAg p.R246Q TRPC4_ENST00000355779.2_Missense_Mutation_p.R246Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.R246Q|TRPC4_ENST00000447043.1_Missense_Mutation_p.R246Q|TRPC4_ENST00000358477.2_Missense_Mutation_p.R246Q|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000379673.2_Missense_Mutation_p.R246Q|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000426868.2_Missense_Mutation_p.R246Q Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 246 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TTTGCACTGCCGTGACAGCTC 0.423000 18 284 0 0 1 0 0 JAK2 3717 broad.mit.edu 37 9 5090496 5090496 + Nonsense_Mutation SNP C C T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr9:5090496C>T ENST00000381652.3 + 21 3306 c.2812C>T c.(2812-2814)Cga>Tga p.R938* JAK2_ENST00000539801.1_Nonsense_Mutation_p.R938*|JAK2_ENST00000544510.1_Nonsense_Mutation_p.R789* NM_004972.3 NP_004963.1 O60674 JAK2_HUMAN Janus kinase 2 938 Protein kinase 2. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1) 32998 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) TGGAAGTTTACGAGACTATCT 0.313000 1 """T, Mis, O""" """ETV6, PCM1, BCR""" """ALL, AML, MPD, CML""" Polycythemia Vera, Familial 103 21 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100841631 100841631 + Silent SNP G G A TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr6:100841631G>A ENST00000369208.3 - 11 2084 c.1302C>T c.(1300-1302)tgC>tgT p.C434C SIM1_ENST00000262901.4_Silent_p.C434C P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 434 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GTCTGTAGGCGCACGATGCGT 0.617000 19 65 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32811758 32811758 + Missense_Mutation SNP C C G TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr13:32811758C>G ENST00000380250.3 + 44 6549 c.6053C>G c.(6052-6054)aCc>aGc p.T2018S NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2018 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TCCTCAAAAACCAGAAGCTCA 0.537000 16 34 0 0 1 0 0 CYP24A1 0 broad.mit.edu 37 20 52779339 52779339 + Missense_Mutation SNP A A T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr20:52779339A>T ENST00000216862.3 - 7 1300 c.907T>A c.(907-909)Tgt>Agt p.C303S CYP24A1_ENST00000395955.3_Missense_Mutation_p.C303S|CYP24A1_ENST00000395954.3_Missense_Mutation_p.C161S NM_000782.4 NP_000773.2 Q07973 CP24A_HUMAN cytochrome P450, family 24, subfamily A, polypeptide 1 303 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) TAAATGTCACAAAGGAAATCT 0.463000 52 55 0 0 1 0 0 ENSA 2029 broad.mit.edu 37 1 150599964 150599964 + Silent SNP G G A TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr1:150599964G>A ENST00000271690.8 - 2 268 c.162C>T c.(160-162)ctC>ctT p.L54L ENSA_ENST00000503241.1_Silent_p.L54L|ENSA_ENST00000361532.5_Silent_p.L50L|ENSA_ENST00000369009.3_Silent_p.L54L|ENSA_ENST00000369014.5_Silent_p.L54L|ENSA_ENST00000369016.4_Silent_p.L54L|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000362052.7_Silent_p.L54L|ENSA_ENST00000356527.5_Silent_p.L54L|ENSA_ENST00000339643.5_Silent_p.L54L|ENSA_ENST00000513281.1_Silent_p.L50L|ENSA_ENST00000503345.1_Silent_p.L54L|ENSA_ENST00000361631.5_Silent_p.L50L NM_207044.1 NP_996927.1 O43768 ENSA_HUMAN endosulfine alpha 54 cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport cytoplasm ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(1) 4 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171) GTCTCTTCATGAGGAAGTCGG 0.493000 89 81 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113852031 113852031 + Missense_Mutation SNP A A T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr11:113852031A>T ENST00000504030.2 + 4 816 c.371A>T c.(370-372)gAg>gTg p.E124V HTR3A_ENST00000375498.2_Missense_Mutation_p.E130V|HTR3A_ENST00000506841.2_Missense_Mutation_p.E124V|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000355556.2_Missense_Mutation_p.E130V|HTR3A_ENST00000299961.5_Missense_Mutation_p.E109V P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 124 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) CTCATCAATGAGTTGTGAGTA 0.512000 23 32 0 0 1 0 0 FSIP1 161835 broad.mit.edu 37 15 39910063 39910063 + Silent SNP C C T rs144527032 byFrequency TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr15:39910063C>T ENST00000350221.3 - 11 1781 c.1572G>A c.(1570-1572)tcG>tcA p.S524S NM_152597.4 NP_689810.3 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 524 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) CAAGAGTCTTCGACATAAAAT 0.398000 84 51 0 0 1 0 0 MDGA2 161357 broad.mit.edu 37 14 47311142 47311142 + Silent SNP G G T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr14:47311142G>T ENST00000426342.1 - 17 2922 c.2176C>A c.(2176-2178)Cga>Aga p.R726R MDGA2_ENST00000399222.3_Silent_p.R157R|MDGA2_ENST00000357362.3_Silent_p.R726R|MDGA2_ENST00000399232.2_Silent_p.R1024R|MDGA2_ENST00000439988.2_Silent_p.R955R NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 955 spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 GGTCACCTTCGAGGACTTAAG 0.388000 3 53 1 1 1 1 0 DLG2 1740 broad.mit.edu 37 11 84996386 84996386 + Missense_Mutation SNP T T G TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr11:84996386T>G ENST00000376104.2 - 4 375 c.64A>C c.(64-66)Aca>Cca p.T22P DLG2_ENST00000543673.1_Missense_Mutation_p.T22P NM_001142699.1 NP_001136171.1 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 0 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TTTAGCAATGTCACCTCATAA 0.348000 7 166 0 0 1 0 0 NEGR1 257194 broad.mit.edu 37 1 72748110 72748110 + Missense_Mutation SNP C C T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr1:72748110C>T ENST00000357731.4 - 1 307 c.68G>A c.(67-69)aGc>aAc p.S23N NEGR1_ENST00000434200.1_Missense_Mutation_p.S21N NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 23 cell adhesion anchored to membrane|plasma membrane p.S23N(1) endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) GCAGCACAGGCTGAGGAGCAC 0.627000 6 14 0 0 1 0 0 SUMF1 285362 broad.mit.edu 37 3 4491010 4491010 + Silent SNP G G A rs148557574 TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr3:4491010G>A ENST00000272902.5 - 3 494 c.459C>T c.(457-459)ggC>ggT p.G153G SUMF1_ENST00000458465.2_Intron|SUMF1_ENST00000534863.1_Silent_p.G153G|SUMF1_ENST00000383843.5_Intron|SUMF1_ENST00000405420.2_Silent_p.G153G NM_182760.3 NP_877437.2 Q8NBK3 SUMF1_HUMAN sulfatase modifying factor 1 153 endoplasmic reticulum lumen metal ion binding|oxidoreductase activity breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3) 13 Melanoma(143;0.068)|Colorectal(144;0.233) Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549) CAAAGGAGTCGCCAAACTTCT 0.403000 104 145 0 0 1 0 0 MAG 4099 broad.mit.edu 37 19 35802842 35802842 + Silent SNP C C T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr19:35802842C>T ENST00000361922.4 + 10 1788 c.1638C>T c.(1636-1638)ccC>ccT p.P546P MAG_ENST00000593348.1_3'UTR|MAG_ENST00000392213.3_Silent_p.P546P|MAG_ENST00000537831.2_Silent_p.P521P NM_080600.2 NP_542167.1 P20916 MAG_HUMAN myelin associated glycoprotein 546 blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) CAGAGAGCCCCAGCTTCTCGG 0.607000 11 1 0 0 1 0 0 SLA 6503 broad.mit.edu 37 8 134050855 134050855 + Nonsense_Mutation SNP G G A TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr8:134050855G>A ENST00000338087.5 - 9 1564 c.745C>T c.(745-747)Cga>Tga p.R249* TG_ENST00000220616.4_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000395352.3_Nonsense_Mutation_p.R266*|TG_ENST00000377869.1_Intron|TG_ENST00000519543.1_Intron|SLA_ENST00000524345.1_Nonsense_Mutation_p.R141*|SLA_ENST00000427060.2_Nonsense_Mutation_p.R289*|SLA_ENST00000517648.1_Nonsense_Mutation_p.R222* NM_001045556.2 NP_001039021.1 Q13239 SLAP1_HUMAN Src-like-adaptor 249 SLA C-terminal. endosome SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1) 17 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) TTCTTCTTTCGATCAAAGGAG 0.498000 61 196 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96521777 96521777 + Missense_Mutation SNP T T C rs77768218 TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr2:96521777T>C ENST00000456556.1 - 63 4316 c.4232A>G c.(4231-4233)cAt>cGt p.H1411R ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R ankyrin repeat domain 36C p.H662R(6)|p.H1411R(3) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 AAGGTCTTCATGCTTTCTTTT 0.383000 3 44 0 0 1 0 0 SHOC2 8036 broad.mit.edu 37 10 112745430 112745430 + Missense_Mutation SNP C C A TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr10:112745430C>A ENST00000369452.4 + 3 1093 c.748C>A c.(748-750)Ctt>Att p.L250I SHOC2_ENST00000265277.5_Intron|SHOC2_ENST00000489390.1_Intron NM_007373.3 NP_031399.2 Q9UQ13 SHOC2_HUMAN soc-2 suppressor of clear homolog (C. elegans) 250 fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction nucleus|protein phosphatase type 1 complex protein phosphatase binding|protein phosphatase regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2) 17 Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126) TCACAATCAACTTGAACACCT 0.368000 9 91 0.000442599 0.000453013 1 1 0 MIPEP 4285 broad.mit.edu 37 13 24411745 24411745 + Missense_Mutation SNP T T C TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr13:24411745T>C ENST00000382172.3 - 13 1587 c.1489A>G c.(1489-1491)Atg>Gtg p.M497V NM_005932.3 NP_005923.2 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase 497 protein processing involved in protein targeting to mitochondrion|proteolysis mitochondrial matrix metal ion binding|metalloendopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1) 27 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) GCATGTCCCATTTCATGGAAA 0.438000 57 202 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70504174 70504174 + Silent SNP G G A TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr1:70504174G>A ENST00000310961.5 + 22 2986 c.2568G>A c.(2566-2568)ccG>ccA p.P856P LRRC7_ENST00000035383.5_Silent_p.P851P|LRRC7_ENST00000415775.2_Silent_p.P135P Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 851 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 CCCCTAGTCCGTTTGAAGACA 0.478000 75 11 0 0 1 0 0 NCF2 4688 broad.mit.edu 37 1 183543623 183543623 + Splice_Site SNP C C T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr1:183543623C>T ENST00000367535.3 - 4 751 c.501_splice c.e4+1 p.W167_splice NCF2_ENST00000367536.1_Splice_Site_p.W167_splice|NCF2_ENST00000413720.1_Intron|NCF2_ENST00000418089.1_Intron NM_000433.3 NP_000424.2 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 167 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 TACGCTTACCCAGACACACTC 0.463000 138 157 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 10997737 10997737 + Nonsense_Mutation SNP C C T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr16:10997737C>T ENST00000324288.8 + 9 1055 c.922C>T c.(922-924)Cga>Tga p.R308* CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Nonsense_Mutation_p.R259* NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 308 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 CCTGACCTCCCGAGCAAACAT 0.592000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 30 99 0 0 1 0 0 RPL7A 6130 broad.mit.edu 37 9 136217156 136217156 + Silent SNP C C T rs142456845 by1000genomes TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr9:136217156C>T ENST00000323345.6 + 5 507 c.477C>T c.(475-477)caC>caT p.H159H RPL7A_ENST00000315731.4_Silent_p.H44H|RPL7A_ENST00000463740.1_3'UTR NM_000972.2 NP_000963.1 P62424 RL7A_HUMAN ribosomal protein L7a 159 endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome RNA binding|structural constituent of ribosome cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05) TGATTGCACACGACGTGGATC 0.522000 9 35 0 0 1 0 0 LRCH3 84859 broad.mit.edu 37 3 197559180 197559180 + Missense_Mutation SNP A A G TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr3:197559180A>G ENST00000438796.2 + 8 1138 c.1094A>G c.(1093-1095)aAc>aGc p.N365S LRCH3_ENST00000425562.2_Missense_Mutation_p.N365S|LRCH3_ENST00000414675.2_Missense_Mutation_p.N365S|LRCH3_ENST00000334859.4_Missense_Mutation_p.N365S|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000441090.2_Missense_Mutation_p.N239S Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 3 365 extracellular region breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) GTAGTAACAAACGGCGGAGGT 0.408000 17 57 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 7 39 0 0 1 0 0 MARK1 4139 broad.mit.edu 37 1 220831178 220831178 + Splice_Site SNP T T G TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr1:220831178T>G ENST00000366917.4 + 17 2299 c.e17+2 MARK1_ENST00000402574.1_Intron|MARK1_ENST00000366918.4_Intron Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) CACCTCAAGGTGAGGAGCCAC 0.378000 4 14 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1785266 1785266 + Silent SNP G G A TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr19:1785266G>A ENST00000539485.1 - 27 3687 c.3454C>T c.(3454-3456)Ctg>Ttg p.L1152L ATP8B3_ENST00000310127.6_Silent_p.L1142L|ATP8B3_ENST00000525591.1_Silent_p.L1105L O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 1142 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 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)|STAD - Stomach adenocarcinoma(1328;0.18) GCCACGCACAGGGCGGTCCAG 0.607000 3 14 0 0 1 0 0 SAFB2 9667 broad.mit.edu 37 19 5587939 5587939 + Missense_Mutation SNP G G A TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr19:5587939G>A ENST00000252542.4 - 19 2842 c.2578C>T c.(2578-2580)Cgc>Tgc p.R860C NM_014649.2 NP_055464.1 Q14151 SAFB2_HUMAN scaffold attachment factor B2 860 Gly-rich.|Interacts with SAFB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) TGCCAGGCGCGTGCCTGGTGC 0.662000 4 12 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38323452 38323452 + Silent SNP G G A TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr22:38323452G>A ENST00000215957.6 + 9 1626 c.1500G>A c.(1498-1500)ccG>ccA p.P500P MICALL1_ENST00000402631.1_3'UTR NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 500 Pro-rich. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) ACTCGGAGCCGCCCTCGGCCA 0.687000 11 15 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157491079 157491079 + Missense_Mutation SNP G G A rs142943534 TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr1:157491079G>A ENST00000361835.3 - 11 2400 c.2243C>T c.(2242-2244)cCg>cTg p.P748L FCRL5_ENST00000356953.4_Missense_Mutation_p.P748L|FCRL5_ENST00000461387.1_5'UTR NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 748 integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GCGAGACACCGGAACTGAAAG 0.498000 12 53 0 0 1 0 0 PCDHB3 0 broad.mit.edu 37 5 140481839 140481839 + Missense_Mutation SNP C C T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr5:140481839C>T ENST00000231130.2 + 1 1606 c.1606C>T c.(1606-1608)Cgt>Tgt p.R536C NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 536 Cadherin 5. 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) CGCCACAGACCGTGGCTCCCC 0.672000 17 55 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160093040 160093040 + Missense_Mutation SNP G G T TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr1:160093040G>T ENST00000361216.3 + 4 304 c.215G>T c.(214-216)cGa>cTa p.R72L ATP1A2_ENST00000392233.3_Missense_Mutation_p.R72L|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 72 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity p.R72L(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GTTCTGGCTCGAGATGGGCCC 0.642000 16 101 4.7546e-09 4.92441e-09 1 1 0 MYH7 4625 broad.mit.edu 37 14 23884933 23884933 + Silent SNP A A G TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr14:23884933A>G ENST00000355349.3 - 35 5224 c.5062T>C c.(5062-5064)Ttg>Ctg p.L1688L NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1688 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) ACGGCACGCAACTCCTCCAGC 0.622000 3 55 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133486435 133486436 + Frame_Shift_Ins INS - - G TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr2:133486435_133486436insG ENST00000409261.1 - 18 5906_5907 c.5533_5534insC c.(5533-5535)gccfs p.A1845fs NCKAP5_ENST00000409213.1_Frame_Shift_Ins_p.A526fs|NCKAP5_ENST00000405974.3_Frame_Shift_Ins_p.A526fs|NCKAP5_ENST00000317721.6_Frame_Shift_Ins_p.A1845fs NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1845 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TGGAAGCGGCTGGCTTGCCATT 0.545 9 355 --- --- --- --- ZNF876P 0 broad.mit.edu 37 4 212236 212236 + RNA DEL A A - rs80061878 TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr4:212236delA ENST00000356347.3 + 0 172 NR_027481.1 ctaaaaatacaaaaaaaaaaa 0.493 2 4 --- --- --- --- C4orf17 84103 broad.mit.edu 37 4 100443782 100443782 + Frame_Shift_Del DEL T T - rs13119384 byFrequency TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr4:100443782delT ENST00000514652.1 + 3 607 c.253delT c.(253-255)ccfs p.S86fs C4orf17_ENST00000503257.1_3'UTR|C4orf17_ENST00000326581.4_Frame_Shift_Del_p.S86fs Q53FE4 CD017_HUMAN chromosome 4 open reading frame 17 86 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) CAGTTACCCCTCCAGCACTGC 0.498 23 107 --- --- --- --- ZCCHC9 84240 broad.mit.edu 37 5 80607067 80607070 + Frame_Shift_Del DEL AAAG AAAG - TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr5:80607067_80607070delAAAG ENST00000254037.2 + 4 3821_3824 c.666_669delAAAG c.(664-669)ttfs p.LK222fs ZCCHC9_ENST00000407610.3_Frame_Shift_Del_p.LK222fs|ZCCHC9_ENST00000380199.5_Frame_Shift_Del_p.LK222fs|ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000438268.2_Frame_Shift_Del_p.LK222fs Q8N567 ZCHC9_HUMAN zinc finger, CCHC domain containing 9 222 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1) 13 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34) TGGAACATTTAAAGAAAGATTGCC 0.417 190 349 --- --- --- --- TMCO6 55374 broad.mit.edu 37 5 140024213 140024214 + Frame_Shift_Ins INS - - G rs4147626 TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr5:140024213_140024214insG ENST00000394671.3 + 11 1357_1358 c.1256_1257insG c.(1255-1257)ctgfs p.L419fs NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Frame_Shift_Ins_p.L425fs|TMCO6_ENST00000537378.1_Frame_Shift_Ins_p.L179fs NM_018502.3 NP_060972.3 Q96DC7 TMCO6_HUMAN transmembrane and coiled-coil domains 6 419 protein import into nucleus cytoplasm|nuclear pore binding|protein transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCCAGCGGCTGTGGCCAGGGC 0.510 9 426 --- --- --- --- PMS2P3 0 broad.mit.edu 37 7 75145720 75145721 + RNA DEL AT AT - TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr7:75145720_75145721delAT ENST00000418756.1 - 0 618 NR_028059.1 lung(1) 1 TCCTTTGGGGatatatatatat 0.302 2 4 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89385933 89385937 + RNA DEL TATTT TATTT - rs67101267 TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr11:89385933_89385937delTATTT ENST00000532352.1 + 0 402 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 ATATTGATTATATTTTATTAATGGT 0.293 2 4 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-DB-5279-01A-01D-1468-08 TCGA-DB-5279-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 277aa1d8-ce6a-4e32-a267-73c33665ab97 1761720c-3e2f-4ce7-8551-b859117e150f g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs 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 10 309 --- --- --- ---