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 SLC17A7 57030 broad.mit.edu 37 19 49935776 49935776 + Splice_Site SNP C C T rs35127332 TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr19:49935776C>T ENST00000221485.3 - 9 1321 c.1150_splice c.e9+1 p.G384_splice SLC17A7_ENST00000543531.1_Splice_Site_p.G372_splice|SLC17A7_ENST00000600601.1_Splice_Site_p.G317_splice NM_020309.3 NP_064705.1 Q9P2U7 VGLU1_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 7 384 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) CCCCACTCACCTCCGCAGTTC 0.642000 3 8 0 0 1 0 0 TAGLN3 29114 broad.mit.edu 37 3 111719684 111719684 + Missense_Mutation SNP G G C TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr3:111719684G>C ENST00000393917.2 + 3 798 c.246G>C c.(244-246)gaG>gaC p.E82D TAGLN3_ENST00000273368.4_Missense_Mutation_p.E82D|TAGLN3_ENST00000478951.1_Missense_Mutation_p.E82D|TAGLN3_ENST00000486460.1_5'UTR|TAGLN3_ENST00000455401.2_Missense_Mutation_p.E82D NM_013259.2 NP_037391.2 Q9UI15 TAGL3_HUMAN transgelin 3 82 CH. central nervous system development|muscle organ development endometrium(2)|lung(5)|urinary_tract(1) 8 AGATCTCAGAGTCAAAGATGG 0.478000 4 243 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 32 0 0 1 0 0 COBLL1 22837 broad.mit.edu 37 2 165551962 165551962 + Missense_Mutation SNP G G A TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr2:165551962G>A ENST00000375458.2 - 11 2161 c.1940C>T c.(1939-1941)tCa>tTa p.S647L COBLL1_ENST00000409184.3_Missense_Mutation_p.S685L|COBLL1_ENST00000342193.4_Missense_Mutation_p.S685L|COBLL1_ENST00000194871.6_Missense_Mutation_p.S752L|COBLL1_ENST00000392717.2_Missense_Mutation_p.S723L NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 723 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 AGAATCTTGTGAACTTAAGCA 0.368000 31 81 0 0 1 0 0 C1orf87 127795 broad.mit.edu 37 1 60456396 60456396 + Silent SNP C C A TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr1:60456396C>A ENST00000371201.3 - 12 1697 c.1590G>T c.(1588-1590)tcG>tcT p.S530S C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Silent_p.S301S|C1orf87_ENST00000395552.1_Silent_p.S164S NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 530 calcium ion binding p.S530S(1) breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 TATTTTCTCCCGAACGGAATC 0.468000 4 207 0.184627 0.184627 1 1 0 UBALD2 283991 broad.mit.edu 37 17 74266281 74266281 + Missense_Mutation SNP A A G TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr17:74266281A>G ENST00000327490.6 + 3 494 c.190A>G c.(190-192)Act>Gct p.T64A UBALD2_ENST00000589240.1_Missense_Mutation_p.T4A NM_182565.3 NP_872371.1 UBA-like domain containing 2 GCAGATGTGCACTCCCAGCAA 0.677000 4 19 0 0 1 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123165315 123165315 + Silent SNP C C T rs141234621 TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr9:123165315C>T ENST00000349780.4 - 34 5255 c.5076G>A c.(5074-5076)acG>acA p.T1692T CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000360190.4_Silent_p.T1613T|CDK5RAP2_ENST00000359309.3_Silent_p.T1651T|CDK5RAP2_ENST00000360822.3_Silent_p.T1660T NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1692 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 AGAGGGAGTCCGTGTCATTCC 0.537000 3 69 0 0 1 0 0 CALHM1 255022 broad.mit.edu 37 10 105218101 105218101 + Silent SNP G G A TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr10:105218101G>A ENST00000329905.5 - 1 544 c.408C>T c.(406-408)agC>agT p.S136S RP11-225H22.4_ENST00000411906.1_RNA NM_001001412.3 NP_001001412.3 Q8IU99 CAHM1_HUMAN calcium homeostasis modulator 1 136 endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel activity|identical protein binding large_intestine(2)|liver(1)|lung(5)|ovary(1) 9 TGCCCAGTGCGCTCACGGGCA 0.706000 8 25 0 0 1 0 0 ZNF148 7707 broad.mit.edu 37 3 124997998 124997998 + Missense_Mutation SNP G G T TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr3:124997998G>T ENST00000360647.4 - 6 1038 c.553C>A c.(553-555)Cac>Aac p.H185N SLC12A8_ENST00000423114.2_Silent_p.I8I|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Missense_Mutation_p.H185N|ZNF148_ENST00000484491.1_Missense_Mutation_p.H185N|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.H185N NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 185 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 CTCTGTAAGTGATAGTTCGTT 0.358000 40 57 8.16277e-20 9.09036e-20 1 1 0 ASNS 440 broad.mit.edu 37 7 97488604 97488604 + Silent SNP G G A TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr7:97488604G>A ENST00000175506.4 - 6 1122 c.594C>T c.(592-594)tcC>tcT p.S198S ASNS_ENST00000394308.3_Silent_p.S198S|ASNS_ENST00000437628.1_Silent_p.S115S|ASNS_ENST00000394309.3_Silent_p.S198S|ASNS_ENST00000444334.1_Silent_p.S177S|ASNS_ENST00000422745.1_Silent_p.S177S|ASNS_ENST00000455086.1_Silent_p.S115S NM_183356.3 NP_899199.2 P08243 ASNS_HUMAN asparagine synthetase (glutamine-hydrolyzing) 198 cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCATTTCCACGGATGCAACTT 0.458000 30 79 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285788 16285788 + Silent SNP C C T TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr17:16285788C>T ENST00000302182.3 + 2 959 c.567C>T c.(565-567)ccC>ccT p.P189P RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.P189P|UBB_ENST00000535788.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000578649.1_3'UTR NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 189 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.P189P(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AAGGCATCCCCCCCGACCAGC 0.552000 3 68 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 63 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37605187 37605187 + Silent SNP G G C TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr21:37605187G>C ENST00000399151.3 + 15 2521 c.2436G>C c.(2434-2436)gtG>gtC p.V812V NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 812 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TCCAGAACGTGGCCATTTCCA 0.498000 16 116 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34102840 34102840 + Missense_Mutation SNP G G A TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr15:34102840G>A ENST00000389232.4 + 71 10257 c.10187G>A c.(10186-10188)cGa>cAa p.R3396Q RYR3_ENST00000415757.3_Missense_Mutation_p.R3391Q NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3396 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCAAAATCGCGATACAGCCAT 0.547000 14 22 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132445686 132445686 + Silent SNP C C T TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr12:132445686C>T ENST00000333577.4 + 2 631 c.522C>T c.(520-522)agC>agT p.S174S EP400_ENST00000389561.2_Silent_p.S174S|EP400_ENST00000330386.6_Silent_p.S174S|EP400_ENST00000389562.2_Silent_p.S174S|EP400_ENST00000332482.4_Silent_p.S174S Q96L91 EP400_HUMAN E1A binding protein p400 174 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TGGATGCCAGCGTGCTGGTGA 0.667000 5 18 0 0 1 0 0 TAS2R19 259294 broad.mit.edu 37 12 11175140 11175140 + Missense_Mutation SNP T T C TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr12:11175140T>C ENST00000390673.2 - 1 79 c.31A>G c.(31-33)Att>Gtt p.I11V TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176888.1 NP_795369.1 P59542 T2R19_HUMAN taste receptor, type 2, member 19 11 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 ACTACCAGAATTGATGAAATG 0.378000 4 26 0 0 1 0 0 HNF1A 6927 broad.mit.edu 37 12 121416600 121416600 + Missense_Mutation SNP C C T TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr12:121416600C>T ENST00000257555.6 + 1 255 c.29C>T c.(28-30)aCg>aTg p.T10M HNF1A-AS1_ENST00000433033.2_RNA|HNF1A_ENST00000544413.1_Missense_Mutation_p.T10M|HNF1A-AS1_ENST00000537361.1_RNA|HNF1A_ENST00000543427.1_Intron|HNF1A_ENST00000538626.1_Missense_Mutation_p.T10M|HNF1A_ENST00000402929.1_Missense_Mutation_p.T10M|HNF1A_ENST00000400024.2_Missense_Mutation_p.T10M|HNF1A_ENST00000541395.1_Missense_Mutation_p.T10M|HNF1A-AS1_ENST00000535301.1_RNA P20823 HNF1A_HUMAN HNF1 homeobox A 10 Dimerization. glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.Q9fs*11(1)|p.Q7_L12del(1)|p.?(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CAGCTGCAGACGGAGCTCCTG 0.692000 Hepatic Adenoma, Familial Clustering of 12 62 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1266085 1266085 + Missense_Mutation SNP C C G TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr11:1266085C>G ENST00000447027.1 + 31 8042 c.7984C>G c.(7984-7986)Ccc>Gcc p.P2662A MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2659 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.P2638A(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CACCCACACCCCCACAGTGCT 0.617000 3 37 0 0 1 0 0 PLCXD2 257068 broad.mit.edu 37 3 111426980 111426980 + Missense_Mutation SNP C C T TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr3:111426980C>T ENST00000393934.3 + 2 941 c.371C>T c.(370-372)gCc>gTc p.A124V PLCXD2_ENST00000477665.1_Missense_Mutation_p.A124V NM_153268.3 NP_695000.1 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 2 124 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1) 17 CCAGGGGATGCCGACCAGGAG 0.507000 4 97 0 0 1 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29891286 29891286 + Missense_Mutation SNP C C T TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr16:29891286C>T ENST00000308713.5 - 9 1999 c.1472G>A c.(1471-1473)tGc>tAc p.C491Y SEZ6L2_ENST00000537485.1_Missense_Mutation_p.C447Y|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.C421Y|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.C377Y NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 491 Sushi 2. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCCTGGGAGGCACGAGAAGGT 0.617000 15 93 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 64 0 0 1 0 0 CYP27A1 1593 broad.mit.edu 37 2 219677083 219677083 + Silent SNP G G A TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr2:219677083G>A ENST00000258415.4 + 3 1012 c.585G>A c.(583-585)gaG>gaA p.E195E NM_000784.3 NP_000775.1 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, polypeptide 1 195 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1) 26 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) TGCGGGCAGAGAGTGCTTCGG 0.557000 21 97 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1023628 1023628 + Missense_Mutation SNP G G A TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr11:1023628G>A ENST00000421673.2 - 26 3457 c.3407C>T c.(3406-3408)aCg>aTg p.T1136M NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1136 maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTGCGTGTGCGTGTTGTAGAA 0.662000 4 25 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106802875 106802875 + Missense_Mutation SNP C C A TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr10:106802875C>A ENST00000369701.3 + 5 1244 c.1017C>A c.(1015-1017)aaC>aaA p.N339K NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 339 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TCACACCCAACAGGTTTTATT 0.433000 5 71 4.14922e-12 4.41982e-12 1 1 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr3:178936082G>A ENST00000263967.3 + 10 1781 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 542 PI3K helical. E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(545)|p.E542Q(10) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333000 E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 8 34 0 0 1 0 0 HRCT1 646962 broad.mit.edu 37 9 35906559 35906559 + Missense_Mutation SNP A A C TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr9:35906559A>C ENST00000354323.2 + 1 371 c.275A>C c.(274-276)cAc>cCc p.H92P NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 92 His-rich. integral to membrane p.H92P(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 caccaccaccacccccgccac 0.682000 9 13 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169196591 169196591 + Missense_Mutation SNP G G A TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr4:169196591G>A ENST00000393743.3 - 16 2500 c.2209C>T c.(2209-2211)Cgg>Tgg p.R737W NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 737 ATP binding|ATP-dependent helicase activity|RNA binding p.R737W(2) breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AGTTGGAACCGAGCTGGCCCA 0.393000 15 44 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106802876 106802876 + Missense_Mutation SNP A A G TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr10:106802876A>G ENST00000369701.3 + 5 1245 c.1018A>G c.(1018-1020)Agg>Ggg p.R340G NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 340 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CACACCCAACAGGTTTTATTG 0.433000 6 68 0 0 1 0 0 COL26A1 136227 broad.mit.edu 37 7 101063356 101063356 + RNA SNP C C T rs79106047 by1000genomes TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr7:101063356C>T ENST00000313669.7 + 0 449 COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 TGCCGGTGGCCGGGGCCCTGC 0.647000 4 50 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19047013 19047013 + Silent SNP C C T TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr16:19047013C>T ENST00000421369.3 + 7 1101 c.543C>T c.(541-543)ttC>ttT p.F181F TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000569532.1_Silent_p.F291F|TMC7_ENST00000304381.5_Silent_p.F291F NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 291 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 TGGAAGGATTCAAAATCAACC 0.458000 44 34 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106802882 106802882 + Missense_Mutation SNP T T A TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr10:106802882T>A ENST00000369701.3 + 5 1251 c.1024T>A c.(1024-1026)Tat>Aat p.Y342N NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 342 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CAACAGGTTTTATTGGTAAGC 0.438000 7 69 0 0 1 0 0 CRISP3 10321 broad.mit.edu 37 6 49703225 49703225 + Missense_Mutation SNP C C A rs144478251 byFrequency TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr6:49703225C>A ENST00000433368.2 - 4 407 c.338G>T c.(337-339)cGa>cTa p.R113L CRISP3_ENST00000423399.2_5'UTR|CRISP3_ENST00000393666.1_Missense_Mutation_p.R90L|CRISP3_ENST00000263045.4_Missense_Mutation_p.R103L|CRISP3_ENST00000371159.4_Missense_Mutation_p.R121L NM_001190986.1 NP_001177915.1 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 90 innate immune response proteinaceous extracellular matrix|specific granule breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) ACTTGTCATTCGATCCTTTGG 0.328000 35 100 5.8336e-16 6.35215e-16 1 1 0 LONRF1 91694 broad.mit.edu 37 8 12586450 12586450 + Missense_Mutation SNP C C A TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr8:12586450C>A ENST00000398246.3 - 10 2039 c.1970G>T c.(1969-1971)gGa>gTa p.G657V LONRF1_ENST00000533751.1_Missense_Mutation_p.G300V|LONRF1_ENST00000525024.1_Missense_Mutation_p.G83V NM_152271.3 NP_689484.3 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 1 657 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 READ - Rectum adenocarcinoma(644;0.236) AGTGCAATATCCATCTTTCAT 0.393000 26 46 1.42536e-11 1.48601e-11 1 1 0 CTNNB1 1499 broad.mit.edu 37 3 41266101 41266101 + Missense_Mutation SNP C C A rs121913416 TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr3:41266101C>A ENST00000349496.5 + 3 378 c.98C>A c.(97-99)tCt>tAt p.S33Y CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33Y|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33Y NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 33 Missing (in hepatocellular carcinoma).|S -> F (in PTR, MDB and hepatocellular carcinoma).|S -> L (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S33C(168)|p.S33F(97)|p.S33Y(60)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TACCTGGACTCTGGAATCCAT 0.488000 S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 9 39 3.86212e-05 3.94258e-05 1 1 0 MACF1 23499 broad.mit.edu 37 1 39798764 39798764 + Silent SNP T T C TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr1:39798764T>C ENST00000564288.1 + 37 7281 c.6504T>C c.(6502-6504)ttT>ttC p.F2168F MACF1_ENST00000289893.4_Silent_p.F608F|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Silent_p.F2205F|MACF1_ENST00000372915.3_Silent_p.F2173F|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2173 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ACACTTCCTTTACATGTCAGA 0.403000 15 38 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72300187 72300187 + Missense_Mutation SNP T T C TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr15:72300187T>C ENST00000356056.5 - 8 1832 c.1360A>G c.(1360-1362)Att>Gtt p.I454V MYO9A_ENST00000424560.1_Missense_Mutation_p.I454V|MYO9A_ENST00000444904.1_Missense_Mutation_p.I435V|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000564571.1_Missense_Mutation_p.I454V|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Missense_Mutation_p.I49V NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 454 Myosin head-like 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TCTGAGACAATAGGCAGAACT 0.323000 18 35 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47696426 47696426 + Missense_Mutation SNP A A C TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr17:47696426A>C ENST00000393331.3 - 7 867 c.397T>G c.(397-399)Ttc>Gtc p.F133V SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133V(4) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 AATTTCTTGAATCCCCAGTCT 0.448000 Prostate(2;0.17) 37 88 0 0 1 0 0 RMDN1 51115 broad.mit.edu 37 8 87487083 87487083 + Missense_Mutation SNP T T C TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr8:87487083T>C ENST00000406452.3 - 9 1019 c.860A>G c.(859-861)aAg>aGg p.K287R RMDN1_ENST00000430676.2_Missense_Mutation_p.K257R|RMDN1_ENST00000519966.1_Missense_Mutation_p.K244R|RMDN1_ENST00000523911.1_Missense_Mutation_p.K230R NM_016033.2 NP_057117.2 regulator of microtubule dynamics 1 TGGATAGTCCTTGGCTTTCAT 0.383000 49 96 0 0 1 0 0 NPAT 4863 broad.mit.edu 37 11 108056136 108056136 + Missense_Mutation SNP A A G TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr11:108056136A>G ENST00000278612.8 - 9 917 c.812T>C c.(811-813)tTa>tCa p.L271S NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 271 Interaction with MIZF.|Mediates transcriptional activation. positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TTACCTAGTTAAAAATTTATT 0.264000 6 16 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20525792 20525792 + Missense_Mutation SNP G G A TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr4:20525792G>A ENST00000504154.1 + 14 1682 c.1430G>A c.(1429-1431)cGt>cAt p.R477H SLIT2_ENST00000503837.1_Missense_Mutation_p.R481H|SLIT2_ENST00000503823.1_Missense_Mutation_p.R477H|SLIT2_ENST00000273739.5_Missense_Mutation_p.R481H NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 477 LRRCT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 AAGAAATTCCGTTGTTCAGGT 0.478000 4 60 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 4 66 0 0 1 0 0 HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 7 98 --- --- --- --- AC074391.1 0 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 2 4 --- --- --- --- PHC3 80012 broad.mit.edu 37 3 169896635 169896637 + In_Frame_Del DEL TGG TGG - TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr3:169896635_169896637delTGG ENST00000494943.1 - 2 136_138 c.68_70delCCA c.(67-72)atc>a p.TI23del PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 23 Poly-Thr. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAAgtggtgatggtggtggtggt 0.493 7 278 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187525553 187525554 + Frame_Shift_Del DEL TC TC - TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr4:187525553_187525554delTC ENST00000441802.2 - 18 10734_10735 c.10525_10526delGA c.(10525-10527)tfs p.D3509fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3509 Cadherin 32. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TAAGTAATGATCTTTCTCCTTC 0.431 HNSCC(5;0.00058) 9 36 --- --- --- --- OR2V2 285659 broad.mit.edu 37 5 180582423 180582423 + Frame_Shift_Del DEL A A - TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr5:180582423delA ENST00000328275.1 + 1 481 c.481delA c.(481-483)tgfs p.M161fs NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTTGATCCAGATGGTGGTAGT 0.488 39 126 --- --- --- --- FAM83H 286077 broad.mit.edu 37 8 144809818 144809818 + Frame_Shift_Del DEL C C - TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr8:144809818delC ENST00000388913.3 - 5 1938 c.1813delG c.(1813-1815)aafs p.E605fs NM_198488.3 NP_940890.3 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 605 E -> V (in Ref. 2; BAC87207). biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GCCTCCGCTTCCATGGGCGCC 0.746 2 4 --- --- --- --- SMG1 23049 broad.mit.edu 37 16 18937310 18937312 + In_Frame_Del DEL GCC GCC - TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr16:18937310_18937312delGCC ENST00000446231.2 - 1 464_466 c.52_54delGGC c.(52-54)del p.G18del SMG1_ENST00000389467.3_In_Frame_Del_p.G18del|SMG1_ENST00000567737.1_5'UTR Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 18 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 GATACTTGGTgccgccgccgccg 0.749 3 5 --- --- --- --- ACADVL 37 broad.mit.edu 37 17 7127384 7127385 + Frame_Shift_Ins INS - - T TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr17:7127384_7127385insT ENST00000356839.5 + 14 1609_1610 c.1430_1431insT c.(1429-1431)tatfs p.Y477fs ACADVL_ENST00000543245.2_Frame_Shift_Ins_p.Y500fs|ACADVL_ENST00000350303.5_Frame_Shift_Ins_p.Y455fs NM_000018.3|NM_001270448.1 NP_000009.1|NP_001257377.1 P49748 ACADV_HUMAN acyl-CoA dehydrogenase, very long chain 477 Catalytic. energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial inner membrane|mitochondrial nucleoid long-chain-acyl-CoA dehydrogenase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1) 21 CTGCAGGGCTGTATGGTAAGAC 0.540 10 39 --- --- --- --- LSM14A 26065 broad.mit.edu 37 19 34685513 34685514 + Frame_Shift_Ins INS - - T TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 83d97b01-92e2-41d7-acca-2d96a560970b d500dcf5-dcd0-4372-b69e-011974798a94 g.chr19:34685513_34685514insT ENST00000544216.3 + 2 329_330 c.252_253insT c.(250-255)cagttcfs p.QF84fs LSM14A_ENST00000540746.2_Frame_Shift_Ins_p.QF84fs|LSM14A_ENST00000433627.5_Frame_Shift_Ins_p.QF84fs NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 84 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) CAAAACCACAGTGTTCTTTGCC 0.431 14 117 --- --- --- ---