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 NOTCH2 4853 broad.mit.edu 37 1 120539834 120539834 + Nonsense_Mutation SNP A A T TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr1:120539834A>T ENST00000256646.2 - 4 756 c.537T>A c.(535-537)tgT>tgA p.C179* NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.C140* NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 179 EGF-like 4. anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.C179*(1)|p.C140*(1) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CATCAGTCTCACATTTCTGCC 0.552 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 9 81 --- --- --- --- OR2T6 254879 broad.mit.edu 37 1 248551568 248551568 + Missense_Mutation SNP G G T TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr1:248551568G>T ENST00000355728.2 + 1 659 c.659G>T c.(658-660)aGg>aTg p.R220M NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCCTACACCAGGATTCTCATC 0.517 7 106 --- --- --- --- BIRC6 57448 broad.mit.edu 37 2 32824954 32824954 + Missense_Mutation SNP A A C TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr2:32824954A>C ENST00000421745.2 + 70 14113 c.13979A>C c.(13978-13980)tAt>tCt p.Y4660S NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4660 Ubiquitin-conjugating. anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding p.Y4660S(2)|p.Y4632S(1) NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) CCAAACCTTTATAATGATGGC 0.333 3 39 --- --- --- --- C2orf40 84417 broad.mit.edu 37 2 106690370 106690370 + Silent SNP C C A TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr2:106690370C>A ENST00000409944.1 + 4 279 c.48C>A c.(46-48)gcC>gcA p.A16A C2orf40_ENST00000238044.3_Silent_p.A52A|C2orf40_ENST00000489174.1_3'UTR Q9H1Z8 AUGN_HUMAN chromosome 2 open reading frame 40 52 extracellular region|transport vesicle lung(7)|urinary_tract(1) 8 CTAAAGTGGCCGTTGATGAGA 0.527 4 187 --- --- --- --- ZNF621 285268 broad.mit.edu 37 3 40573524 40573524 + Missense_Mutation SNP G G A TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr3:40573524G>A ENST00000339296.5 + 5 715 c.263G>A c.(262-264)gGt>gAt p.G88D ZNF621_ENST00000403205.2_Missense_Mutation_p.G88D|ZNF621_ENST00000310898.1_Missense_Mutation_p.G88D|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_5'UTR NM_198484.3 NP_940886.1 Q6ZSS3 ZN621_HUMAN zinc finger protein 621 88 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G88D(1) endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648) TGGTCAGGTGGTGAGTCCTGG 0.403 13 81 --- --- --- --- SEC61A1 29927 broad.mit.edu 37 3 127779441 127779441 + Missense_Mutation SNP A A G TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr3:127779441A>G ENST00000243253.3 + 7 737 c.553A>G c.(553-555)Act>Gct p.T185A SEC61A1_ENST00000464451.1_Missense_Mutation_p.T191A|SEC61A1_ENST00000424880.2_Missense_Mutation_p.T65A NM_013336.3 NP_037468.1 P61619 S61A1_HUMAN Sec61 alpha 1 subunit (S. cerevisiae) 185 protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding p.T185A(1) central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4) 21 CTTCATTGCAACTAACATCTG 0.478 29 45 --- --- --- --- PCDHGA6 56109 broad.mit.edu 37 5 140754115 140754115 + Missense_Mutation SNP G G A TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr5:140754115G>A ENST00000517434.1 + 1 465 c.465G>A c.(463-465)atG>atA p.M155I PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 p.M155I(1) breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCCACTAATGGAGGTCTATG 0.448 3 49 --- --- --- --- MYLIP 29116 broad.mit.edu 37 6 16145318 16145318 + Missense_Mutation SNP T T C TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr6:16145318T>C ENST00000349606.4 + 5 979 c.475T>C c.(475-477)Tca>Cca p.S159P MYLIP_ENST00000356840.3_Missense_Mutation_p.S340P Q8WY64 MYLIP_HUMAN myosin regulatory light chain interacting protein 340 FERM. cellular component movement|nervous system development cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding p.S340P(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(50;0.0799)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.241) GGACCTCGTTTCAAGAAACAA 0.517 10 123 --- --- --- --- MOCS1 4337 broad.mit.edu 37 6 39880665 39880665 + Missense_Mutation SNP C C A TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr6:39880665C>A ENST00000373186.4 - 6 978 c.841G>T c.(841-843)Gtg>Ttg p.V281L MOCS1_ENST00000425303.2_Missense_Mutation_p.V281L|MOCS1_ENST00000340692.5_Missense_Mutation_p.V281L|MOCS1_ENST00000308559.7_Missense_Mutation_p.V281L|MOCS1_ENST00000373195.3_Missense_Mutation_p.V194L|MOCS1_ENST00000373188.2_Missense_Mutation_p.V281L|MOCS1_ENST00000373175.4_Missense_Mutation_p.V252L|MOCS1_ENST00000432280.2_Missense_Mutation_p.V252L NM_005943.5 NP_005934.2 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis 1 281 Molybdenum cofactor biosynthesis protein A. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding p.V281L(2) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) TCCTCTGGCACCTTCTCCAGC 0.577 136 185 --- --- --- --- EIF4H 7458 broad.mit.edu 37 7 73604629 73604629 + Silent SNP C C T TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr7:73604629C>T ENST00000265753.8 + 5 601 c.462C>T c.(460-462)ttC>ttT p.F154F EIF4H_ENST00000495187.1_3'UTR|EIF4H_ENST00000353999.6_Intron NM_022170.1 NP_071496.1 Q15056 IF4H_HUMAN eukaryotic translation initiation factor 4H 154 HHV-1 Vhs binding site. interspecies interaction between organisms|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity p.F154F(1) endometrium(1)|lung(2)|prostate(1) 4 GGGATGACTTCAATTCTGGTA 0.453 14 26 --- --- --- --- NKX3-1 4824 broad.mit.edu 37 8 23539041 23539041 + Missense_Mutation SNP T T G TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr8:23539041T>G ENST00000380871.4 - 2 435 c.398A>C c.(397-399)cAc>cCc p.H133P NKX3-1_ENST00000523261.1_Missense_Mutation_p.H58P NM_006167.3 NP_006158.2 Q99801 NKX31_HUMAN NK3 homeobox 1 133 negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter nucleus estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding p.H133P(1) large_intestine(3)|lung(4)|prostate(5)|skin(2) 14 Prostate(55;0.114) Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708) CACCTGAGTGTGGGAGAAGGC 0.587 90 33 --- --- --- --- MRPL15 29088 broad.mit.edu 37 8 55049839 55049839 + Missense_Mutation SNP A A C TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr8:55049839A>C ENST00000260102.4 + 3 349 c.275A>C c.(274-276)cAg>cCg p.Q92P NM_014175.3 NP_054894.1 Q9P015 RM15_HUMAN mitochondrial ribosomal protein L15 92 translation large ribosomal subunit|mitochondrion structural constituent of ribosome p.Q92P(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3) 10 Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458) TTCAGACGCCAGTATAAGCCT 0.398 55 39 --- --- --- --- TJP2 9414 broad.mit.edu 37 9 71844114 71844114 + Missense_Mutation SNP G G C TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr9:71844114G>C ENST00000377245.4 + 10 1676 c.1468G>C c.(1468-1470)Gca>Cca p.A490P TJP2_ENST00000453658.2_Missense_Mutation_p.A467P|TJP2_ENST00000539225.1_Missense_Mutation_p.A521P|TJP2_ENST00000535702.1_Missense_Mutation_p.A494P|TJP2_ENST00000348208.4_Missense_Mutation_p.A490P|TJP2_ENST00000265384.7_Missense_Mutation_p.A490P NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 490 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding p.A490P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 TCAACCAAAAGCAGCCCCGAG 0.388 7 141 --- --- --- --- SCAI 286205 broad.mit.edu 37 9 127765792 127765792 + Missense_Mutation SNP C C G TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr9:127765792C>G ENST00000336505.6 - 10 977 c.919G>C c.(919-921)Gag>Cag p.E307Q SCAI_ENST00000487795.1_5'UTR|SCAI_ENST00000373549.4_Missense_Mutation_p.E330Q NM_001144877.2 NP_001138349.1 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity p.E330Q(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1) 35 TTCATTGGCTCCCTTTCCAGA 0.413 20 56 --- --- --- --- ITIH2 3698 broad.mit.edu 37 10 7780658 7780658 + Missense_Mutation SNP A A G TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr10:7780658A>G ENST00000358415.4 + 16 2198 c.2032A>G c.(2032-2034)Atc>Gtc p.I678V ITIH2_ENST00000379587.4_Missense_Mutation_p.I667V NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 678 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.I678V(1) NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 AACGCCCGTGATCTCCATGCT 0.552 9 75 --- --- --- --- ARHGAP21 57584 broad.mit.edu 37 10 24884077 24884077 + Missense_Mutation SNP G G C TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr10:24884077G>C ENST00000396432.2 - 20 4241 c.3755C>G c.(3754-3756)cCt>cGt p.P1252R ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P1039R NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1251 Rho-GAP. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding p.P1251R(1)|p.P1251fs*2(1)|p.P1252R(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 ACGATCTAGAGGATCTTCTTT 0.299 4 25 --- --- --- --- TPH1 7166 broad.mit.edu 37 11 18062244 18062244 + Missense_Mutation SNP A A C TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr11:18062244A>C ENST00000250018.2 - 1 628 c.66T>G c.(64-66)ttT>ttG p.F22L TPH1_ENST00000341556.2_Missense_Mutation_p.F22L NM_004179.2 NP_004170.1 P17752 TPH1_HUMAN tryptophan hydroxylase 1 22 ACT. aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity p.F22L(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1) 25 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) TCTTTAAGGAAAAAATGAGAC 0.328 5 38 --- --- --- --- CD82 3732 broad.mit.edu 37 11 44626916 44626916 + Silent SNP C C T TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr11:44626916C>T ENST00000227155.4 + 6 521 c.273C>T c.(271-273)ttC>ttT p.F91F CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Intron NM_002231.3 NP_002222.1 P27701 CD82_HUMAN CD82 molecule 91 integral to plasma membrane protein binding p.F91F(1) large_intestine(1)|ovary(1) 2 ACTTTGCTTTCCTGCTCCTGA 0.617 27 32 --- --- --- --- PFDN5 5204 broad.mit.edu 37 12 53689395 53689395 + Missense_Mutation SNP T T C TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr12:53689395T>C ENST00000551018.1 + 1 321 c.44T>C c.(43-45)cTa>cCa p.L15P PFDN5_ENST00000334478.4_Missense_Mutation_p.L15P|PFDN5_ENST00000351500.3_Missense_Mutation_p.L15P|PFDN5_ENST00000550846.1_Missense_Mutation_p.L15P NM_002624.3 NP_002615.2 Q99471 PFD5_HUMAN prefoldin subunit 5 15 'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent nucleus|prefoldin complex transcription corepressor activity|unfolded protein binding p.L15P(1) kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1) 8 CTGCCGCAGCTAGAAATGCTC 0.592 3 93 --- --- --- --- LHFP 10186 broad.mit.edu 37 13 40175053 40175053 + Missense_Mutation SNP G G A TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr13:40175053G>A ENST00000379589.3 - 2 763 c.301C>T c.(301-303)Ctc>Ttc p.L101F NM_005780.2 NP_005771.1 Q9Y693 LHFP_HUMAN lipoma HMGIC fusion partner 101 integral to membrane DNA binding p.L101F(1) HMGA2/LHFP(2) breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) AGGGCAGTGAGCGCCACCAGG 0.587 T HMGA2 lipoma 12 136 --- --- --- --- BBS4 585 broad.mit.edu 37 15 73015166 73015166 + Missense_Mutation SNP T T A TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr15:73015166T>A ENST00000268057.4 + 7 478 c.437T>A c.(436-438)aTa>aAa p.I146K BBS4_ENST00000395205.2_Missense_Mutation_p.I154K|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.I134K|BBS4_ENST00000542334.1_5'UTR NM_033028.4 NP_149017.2 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 146 Interaction with PCM1. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity p.I146K(1) autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1) 19 GTTTGCTACATATACCTGAAG 0.373 Bardet-Biedl syndrome 18 46 --- --- --- --- NAA60 79903 broad.mit.edu 37 16 3529476 3529476 + Missense_Mutation SNP C C A TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr16:3529476C>A ENST00000407558.4 + 4 419 c.116C>A c.(115-117)cCa>cAa p.P39Q NAA60_ENST00000360862.5_5'UTR|NAA60_ENST00000610180.1_Missense_Mutation_p.P39Q|NAA60_ENST00000576916.1_Missense_Mutation_p.P39Q|NAA60_ENST00000570819.1_Missense_Mutation_p.P39Q|NAA60_ENST00000421765.3_Missense_Mutation_p.P39Q|NAA60_ENST00000414063.2_Missense_Mutation_p.P39Q|NAA60_ENST00000424546.2_Missense_Mutation_p.P46Q|NAA60_ENST00000575076.1_Missense_Mutation_p.P39Q|NAA60_ENST00000570551.1_Intron|NAA60_ENST00000577013.1_Missense_Mutation_p.P39Q|NAA60_ENST00000608722.1_Missense_Mutation_p.P39Q|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000608993.1_5'UTR|NAA60_ENST00000573580.1_5'UTR|NAA60_ENST00000572584.1_Missense_Mutation_p.P39Q|NAA60_ENST00000572942.1_Missense_Mutation_p.P39Q Q9H7X0 NAT15_HUMAN N(alpha)-acetyltransferase 60, NatF catalytic subunit 39 N-acetyltransferase. N-acetyltransferase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1) 7 CTCAGGTACCCAGACTCATGG 0.478 3 32 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29996717 29996717 + Missense_Mutation SNP G G T TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr16:29996717G>T ENST00000308893.4 + 14 2649 c.1606G>T c.(1606-1608)Ggg>Tgg p.G536W TAOK2_ENST00000543033.1_Missense_Mutation_p.G536W|TAOK2_ENST00000416441.2_Missense_Mutation_p.G363W|TAOK2_ENST00000279394.3_Missense_Mutation_p.G536W NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 536 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity p.G536W(3) breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 GGCTGGCTTTGGGGCAGAGGC 0.672 8 10 --- --- --- --- LOC101927060 101927060 broad.mit.edu 37 17 45127331 45127331 + RNA SNP C C A TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr17:45127331C>A ENST00000575173.1 - 0 418 AACTCGCTCCCGCATGACCCA 0.418 55 339 --- --- --- --- BZRAP1 9256 broad.mit.edu 37 17 56385061 56385061 + Missense_Mutation SNP C C A TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr17:56385061C>A ENST00000355701.3 - 24 5764 c.4894G>T c.(4894-4896)Gct>Tct p.A1632S BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1572S|BZRAP1_ENST00000343736.4_Missense_Mutation_p.A1632S NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1632 SH3 2. mitochondrion benzodiazepine receptor binding p.A1632S(3) cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCAAACAGAGCCACAAAGATC 0.567 7 64 --- --- --- --- SIRT7 51547 broad.mit.edu 37 17 79873382 79873382 + Silent SNP G G A rs146448282 byFrequency TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr17:79873382G>A ENST00000328666.6 - 5 476 c.414C>T c.(412-414)gcC>gcT p.A138A NM_016538.2 NP_057622.1 Q9NRC8 SIRT7_HUMAN sirtuin 7 138 Deacetylase sirtuin-type. chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription cytoplasm|nucleolus organizer region hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding p.A138A(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CGCTCAGGTCGGCAGCACTGC 0.652 3 28 --- --- --- --- HNRNPL 3191 broad.mit.edu 37 19 39334540 39334540 + Silent SNP A A G TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr19:39334540A>G ENST00000221419.5 - 6 1188 c.822T>C c.(820-822)aaT>aaC p.N274N HNRNPL_ENST00000600873.1_Silent_p.N141N NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 274 nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding p.N274N(1)|p.N141N(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) TCTTGAACACATTCAAGCGTG 0.507 31 60 --- --- --- --- PSG2 5670 broad.mit.edu 37 19 43585093 43585093 + Missense_Mutation SNP T T C TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr19:43585093T>C ENST00000406487.1 - 2 468 c.370A>G c.(370-372)Atc>Gtc p.I124V NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 124 Ig-like V-type. cell migration|female pregnancy extracellular region p.I124V(2) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) CGCTTTATGATGTGTAAGGTG 0.493 16 160 --- --- --- --- TSHZ2 128553 broad.mit.edu 37 20 51870363 51870363 + Missense_Mutation SNP G G A TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr20:51870363G>A ENST00000371497.5 + 2 1253 c.366G>A c.(364-366)atG>atA p.M122I TSHZ2_ENST00000603338.2_Missense_Mutation_p.M119I|TSHZ2_ENST00000329613.6_Missense_Mutation_p.M119I NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 122 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.M122I(2) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) ACAATTGCATGGATAAAATGA 0.522 24 32 --- --- --- --- CCT8L2 150160 broad.mit.edu 37 22 17072407 17072407 + Missense_Mutation SNP C C T TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr22:17072407C>T ENST00000359963.3 - 1 1293 c.1034G>A c.(1033-1035)gGc>gAc p.G345D NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 345 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.G345A(1)|p.G345D(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CTGGCACTTGCCTGGCCTCTG 0.547 4 137 --- --- --- --- SLC7A4 6545 broad.mit.edu 37 22 21384286 21384286 + Missense_Mutation SNP C C T TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr22:21384286C>T ENST00000382932.2 - 3 1404 c.1337G>A c.(1336-1338)gGc>gAc p.G446D SLC7A4_ENST00000403586.1_Missense_Mutation_p.G446D NM_004173.2 NP_004164.2 O43246 CTR4_HUMAN solute carrier family 7, member 4 446 cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity p.G446D(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2) 18 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) GTGTACAGTGCCCACCAGCTG 0.657 6 19 --- --- --- --- IGLV2-8 28817 broad.mit.edu 37 22 23165714 23165714 + RNA SNP C C A TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr22:23165714C>A ENST00000390317.2 + 0 447 CCTCCCTGACCGTCTCTGGGC 0.522 5 245 --- --- --- --- CHD6 84181 broad.mit.edu 37 20 40118655 40118656 + Frame_Shift_Ins INS - - T TCGA-CH-5767-01A-11D-1786-08 TCGA-CH-5767-11B-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx f07b8ebf-6f30-4011-b595-5571f05c364b 1ff17ff8-6ebe-4775-bc2a-07db1eadb340 g.chr20:40118655_40118656insT ENST00000373233.3 - 12 1619_1620 c.1442_1443insA c.(1441-1443)aacfs p.N481fs CHD6_ENST00000309279.7_Frame_Shift_Ins_p.N481fs NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 481 Helicase ATP-binding. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CCAAAATACAGTTTTTTCTGCA 0.376 73 126 --- --- --- ---