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 NDC1 55706 broad.mit.edu 37 1 54238032 54238032 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:54238032C>T ENST00000371429.3 - 17 2529 c.1931G>A c.(1930-1932)cGa>cAa p.R644Q NDC1_ENST00000540001.1_3'UTR|NDC1_ENST00000537333.1_Missense_Mutation_p.R309Q|NDC1_ENST00000234725.8_Missense_Mutation_p.R529Q NM_001168551.1|NM_018087.4 NP_001162023.1|NP_060557.3 NDC1 transmembrane nucleoporin AGTAGTTATTCGATAGATGGC 0.393000 36 84 0 0 0.004878 0 0 TCF23 150921 broad.mit.edu 37 2 27372192 27372192 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:27372192G>A ENST00000296096.5 + 1 321 c.191G>A c.(190-192)gGg>gAg p.G64E TCF23_ENST00000407815.3_3'UTR NM_175769.2 NP_786951.1 Q7RTU1 TCF23_HUMAN transcription factor 23 64 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus large_intestine(2)|lung(11)|prostate(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCCCTCGAGGGACCAGGGCT 0.632000 3 7 0 0 0.004672 0 0 DEFB121 245934 broad.mit.edu 37 20 29992835 29992835 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr20:29992835C>T ENST00000376314.2 - 2 225 c.112G>A c.(112-114)Gaa>Aaa p.E38K DEFB121_ENST00000376312.3_5'UTR NM_001011878.2 NP_001011878.1 Q5J5C9 DB121_HUMAN defensin, beta 121 38 defense response to bacterium extracellular region large_intestine(1)|lung(1) 2 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TAGTATACTTCACTTTCTTTA 0.378000 15 29 0 0 0.004007 0 0 SLC35C2 51006 broad.mit.edu 37 20 44980726 44980726 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr20:44980726G>A ENST00000372227.1 - 8 1341 c.801C>T c.(799-801)acC>acT p.T267T SLC35C2_ENST00000243896.2_Silent_p.T267T|SLC35C2_ENST00000372230.5_Silent_p.T267T|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000543605.1_Silent_p.T296T|SLC35C2_ENST00000372229.1_Silent_p.T134T|SLC35C2_ENST00000317734.8_Silent_p.T246T Q9NQQ7 S35C2_HUMAN solute carrier family 35 (GDP-fucose transporter), member C2 267 transport integral to membrane cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 16 Myeloproliferative disorder(115;0.0122) TGAGGCTGGAGGTTCTGGAGA 0.582000 11 48 0 0 0.008291 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150532255 150532255 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:150532255G>A ENST00000271643.4 + 18 3198 c.2962G>A c.(2962-2964)Ggg>Agg p.G988R ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.G1011R|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.G988R NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 988 TSP type-1 6. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CTCCTGCCAAGGGGGAACGCA 0.637000 OREG0013787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 185 0 0 0.001786 0 0 CCDC61 729440 broad.mit.edu 37 19 46511402 46511402 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr19:46511402C>T ENST00000263284.2 + 6 565 c.565C>T c.(565-567)Cac>Tac p.H189Y CCDC61_ENST00000594087.1_Missense_Mutation_p.H132Y|CCDC61_ENST00000595358.1_Missense_Mutation_p.H132Y|CCDC61_ENST00000536603.1_Missense_Mutation_p.H132Y coiled-coil domain containing 61 endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164) CCTCAGGATTCACTACCCGCT 0.587000 8 18 0 0 0.003080 0 0 NOTCH4 4855 broad.mit.edu 37 6 32187406 32187406 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr6:32187406C>T ENST00000375023.3 - 8 1611 c.1473G>A c.(1471-1473)ctG>ctA p.L491L NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 491 EGF-like 12; calcium-binding (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CAAGTAGGTCCAGACAGGTGC 0.592000 96 335 0 0 0.003610 0 0 NLRC4 58484 broad.mit.edu 37 2 32461352 32461352 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:32461352G>A ENST00000404025.2 - 8 3066 c.2578C>T c.(2578-2580)Ctg>Ttg p.L860L NLRC4_ENST00000360906.5_Silent_p.L860L|NLRC4_ENST00000342905.6_Silent_p.L195L|NLRC4_ENST00000402280.1_Silent_p.L860L Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 860 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TCTTTTTCCAGGTAATTTTCT 0.318000 16 47 0 0 0.004990 0 0 ZNF365 22891 broad.mit.edu 37 10 64159453 64159453 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr10:64159453C>T ENST00000395254.3 + 5 1409 c.1129C>T c.(1129-1131)Cca>Tca p.P377S ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000466727.1_3'UTR NM_014951.2 NP_055766.2 Q70YC4 TALAN_HUMAN zinc finger protein 365 0 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) CTGCAGACCTCCAAAGAAAGG 0.517000 38 46 0 0 0.004878 0 0 PDZRN4 29951 broad.mit.edu 37 12 41900423 41900423 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr12:41900423G>A ENST00000298919.7 + 4 617 c.229G>A c.(229-231)Gac>Aac p.D77N PDZRN4_ENST00000402685.2_Missense_Mutation_p.D337N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.D79N Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 337 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) CACTCAGACGGACATCACCTT 0.527000 25 38 0 0 0.003954 0 0 ADAM28 10863 broad.mit.edu 37 8 24197052 24197052 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr8:24197052G>A ENST00000265769.4 + 15 1751 c.1641G>A c.(1639-1641)gtG>gtA p.V547V RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Silent_p.V294V|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 547 Cys-rich. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) GTCGCAGAGTGGATGACACAC 0.488000 5 14 0 0 0.000602 0 0 HGF 3082 broad.mit.edu 37 7 81388078 81388078 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr7:81388078G>A ENST00000222390.5 - 3 523 c.297C>T c.(295-297)ttC>ttT p.F99F HGF_ENST00000444829.2_Silent_p.F99F|HGF_ENST00000453411.1_Silent_p.F99F|HGF_ENST00000423064.2_Silent_p.F99F|HGF_ENST00000354224.6_Silent_p.F99F|HGF_ENST00000453018.1_5'UTR|HGF_ENST00000457544.2_Silent_p.F99F NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 99 PAN. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 TATTGAAGGGGAACCAGAGGC 0.318000 58 79 0 0 0.003610 0 0 COL4A3 1285 broad.mit.edu 37 2 228137771 228137771 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:228137771G>A ENST00000396578.3 + 26 2027 c.1865G>A c.(1864-1866)gGa>gAa p.G622E AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 622 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity p.G622E(2) NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGACCCCAAGGAGAACCTGGT 0.622000 27 53 0 0 0.004656 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963644 88963644 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr7:88963644G>A ENST00000333190.4 + 4 1957 c.1348G>A c.(1348-1350)Gat>Aat p.D450N NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 450 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TCAAAGCAAGGATGGCCACAC 0.398000 HNSCC(36;0.09) 24 89 0 0 0.004656 0 0 SFRP4 6424 broad.mit.edu 37 7 37954014 37954014 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr7:37954014C>T ENST00000436072.2 - 2 864 c.487G>A c.(487-489)Gaa>Aaa p.E163K EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 163 brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 AGAGGCCTTTCCTGTACCATC 0.483000 41 46 0 0 0.003610 0 0 SOX11 6664 broad.mit.edu 37 2 5833922 5833922 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:5833922G>A ENST00000322002.3 + 1 1124 c.1069G>A c.(1069-1071)Gac>Aac p.D357N NM_003108.3 NP_003099.1 P35716 SOX11_HUMAN SRY (sex determining region Y)-box 11 357 cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis cytoplasm|nucleolus enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) OV - Ovarian serous cystadenocarcinoma(76;0.132) cagcggcGAGGACGCCGACGA 0.726000 4 4 0 0 0.000248 0 0 ABCA10 10349 broad.mit.edu 37 17 67148207 67148207 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr17:67148207G>A ENST00000269081.4 - 37 5283 c.4374C>T c.(4372-4374)ttC>ttT p.F1458F ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 1458 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) CAGCCTGTGGGAAAAGCTTCA 0.378000 25 81 0 0 0.005443 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19363171 19363171 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr8:19363171C>T ENST00000454498.2 - 4 1188 c.175G>A c.(175-177)Gcc>Acc p.A59T CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.A59T|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.A59T|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.A59T|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.A59T NM_001130518.1 NP_001123990.1 Q8TDX6 CGAT1_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 1 59 anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(111;0.182) TGAAGGACGGCCTGGTACCCC 0.622000 6 39 0 0 0.003080 0 0 ZIC4 84107 broad.mit.edu 37 3 147108847 147108847 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:147108847G>A ENST00000383075.3 - 4 1387 c.875C>T c.(874-876)cCg>cTg p.P292L ZIC4_ENST00000484399.1_Missense_Mutation_p.P292L|ZIC4_ENST00000473123.1_Missense_Mutation_p.P292L|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000525172.2_Missense_Mutation_p.P342L|ZIC4_ENST00000425731.3_Missense_Mutation_p.P330L|ZIC4_ENST00000491672.1_Missense_Mutation_p.P86L NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 292 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 GCTGGGCGGCGGCGAGCGCCC 0.672000 20 39 0 0 0.002299 0 0 GTF3C4 9329 broad.mit.edu 37 9 135559040 135559040 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr9:135559040C>T ENST00000372146.4 + 3 2839 c.2275C>T c.(2275-2277)Cgc>Tgc p.R759C NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa 759 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) ATTCACAGATCGCAAACAGGC 0.408000 21 35 0 0 0.001882 0 0 ALOXE3 59344 broad.mit.edu 37 17 8000072 8000072 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr17:8000072C>T ENST00000380149.1 - 15 2507 c.2477G>A c.(2476-2478)cGg>cAg p.R826Q ALOXE3_ENST00000448843.2_Missense_Mutation_p.R670Q|ALOXE3_ENST00000318227.3_Missense_Mutation_p.R802Q Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 670 leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 GGCGATGCTCCGCCTCGGGGC 0.632000 26 72 0 0 0.007291 0 0 NDUFV1 4723 broad.mit.edu 37 11 67379630 67379630 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:67379630G>A ENST00000322776.6 + 9 1355 c.1202G>A c.(1201-1203)aGg>aAg p.R401K NDUFV1_ENST00000415352.2_Missense_Mutation_p.R394K|NDUFV1_ENST00000529927.1_Missense_Mutation_p.R392K|NDUFV1_ENST00000532303.1_Missense_Mutation_p.R300K NM_001166102.1|NM_007103.3 NP_001159574.1|NP_009034.2 P49821 NDUV1_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 401 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 16 NADH(DB00157) CGTTTCGTGAGGGGGGATGCC 0.632000 33 90 0 0 0.005524 0 0 SPAG17 200162 broad.mit.edu 37 1 118539226 118539226 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:118539226G>A ENST00000336338.5 - 33 4982 c.4917C>T c.(4915-4917)gtC>gtT p.V1639V NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1639 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TTTACCTGGGGACATGTTCAC 0.299000 8 52 0 0 0.006214 0 0 UBE3D 90025 broad.mit.edu 37 6 83667048 83667048 + Missense_Mutation SNP G G A rs143403921 byFrequency TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr6:83667048G>A ENST00000369747.3 - 9 1254 c.1132C>T c.(1132-1134)Cgt>Tgt p.R378C NM_198920.1 NP_944602.1 Q7Z6J8 UB2CB_HUMAN ubiquitin protein ligase E3D 378 HECT-like. cytoplasm ligase activity GAATTCACACGGCGAAGGGAT 0.463000 3 10 0 0 0.000602 0 0 SLX4 84464 broad.mit.edu 37 16 3644580 3644580 + Silent SNP A A C TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr16:3644580A>C ENST00000294008.3 - 10 2674 c.2034T>G c.(2032-2034)gtT>gtG p.V678V NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 678 DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 CAAAGTCAGCAACCAGCAGCC 0.587000 Direct reversal of damage 10 35 0 0 0.008291 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720785 140720785 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr5:140720785C>T ENST00000394576.2 + 1 2247 c.2247C>T c.(2245-2247)ttC>ttT p.F749F PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCGGGCTTTCCTGCAGACCT 0.627000 22 67 0 0 0.003954 0 0 CCL11 6356 broad.mit.edu 37 17 32614638 32614638 + Missense_Mutation SNP G G A rs56358892 TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr17:32614638G>A ENST00000305869.3 + 3 364 c.223G>A c.(223-225)Gac>Aac p.D75N NM_002986.2 NP_002977.1 P51671 CCL11_HUMAN chemokine (C-C motif) ligand 11 75 cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction extracellular space chemokine activity breast(1)|lung(1)|prostate(1) 3 Breast(3;0.00224) Breast(31;0.151)|Ovarian(249;0.17) BRCA - Breast invasive adenocarcinoma(366;0.155) TATCTGTGCCGACCCCAAGAA 0.423000 15 27 0 0 0.008871 0 0 COL4A3 1285 broad.mit.edu 37 2 228128587 228128587 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:228128587G>A ENST00000396578.3 + 21 1404 c.1242G>A c.(1240-1242)atG>atA p.M414I AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 414 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity p.M414I(2) NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) AGGATGCCATGGGGACTCCTG 0.602000 15 37 0 0 0.002450 0 0 ZNF302 55900 broad.mit.edu 37 19 35176128 35176128 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr19:35176128C>T ENST00000505242.1 + 5 1680 c.1186C>T c.(1186-1188)Ccg>Tcg p.P396S ZNF302_ENST00000457781.2_Missense_Mutation_p.P396S|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000423823.2_Missense_Mutation_p.P396S|ZNF302_ENST00000446502.2_Missense_Mutation_p.P440S Q9NR11 ZN302_HUMAN zinc finger protein 302 475 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) TGAAGAAAAACCGTTTGAAGT 0.338000 12 44 0 0 0.000978 0 0 FNIP1 96459 broad.mit.edu 37 5 131054747 131054747 + Silent SNP A A G TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr5:131054747A>G ENST00000307968.7 - 5 461 c.462T>C c.(460-462)ccT>ccC p.P154P FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Silent_p.P154P|FNIP1_ENST00000307954.8_Silent_p.P109P|FNIP1_ENST00000511848.1_Silent_p.P154P NM_001008738.2 NP_001008738.2 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TGAGCTGTGGAGGGGAACTAT 0.383000 28 76 0 0 0.008361 0 0 DSCAML1 57453 broad.mit.edu 37 11 117314695 117314695 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:117314695G>A ENST00000321322.6 - 21 3950 c.3949C>T c.(3949-3951)Cgc>Tgc p.R1317C DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1047C NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1257 Ig-like C2-type 10. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TGCTGACCGCGGTTTAGGTGG 0.627000 12 22 0 0 0.001855 0 0 EEF1G 1937 broad.mit.edu 37 11 62327212 62327212 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:62327212G>A ENST00000378019.3 - 10 1493 c.1403C>T c.(1402-1404)tCc>tTc p.S468F EEF1G_ENST00000329251.4_Missense_Mutation_p.S418F|MIR3654_ENST00000496634.2_3'UTR P26641 EF1G_HUMAN eukaryotic translation elongation factor 1 gamma 418 response to virus cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CCCCTCCCAGGAAAAGTACTC 0.557000 14 17 0 0 0.001855 0 0 PITPNM3 83394 broad.mit.edu 37 17 6406856 6406856 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr17:6406856C>T ENST00000262483.8 - 4 352 c.265G>A c.(265-267)Gag>Aag p.E89K ACKR6_ENST00000421306.3_Missense_Mutation_p.E53K NM_031220.3 NP_112497.2 CGCTGCTTCTCCTGGAGGATG 0.557000 8 46 0 0 0.003080 0 0 LTBP1 4052 broad.mit.edu 37 2 33505184 33505184 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:33505184C>T ENST00000404816.2 + 19 3424 c.3071C>T c.(3070-3072)cCc>cTc p.P1024L LTBP1_ENST00000404525.1_Missense_Mutation_p.P645L|LTBP1_ENST00000407925.1_Missense_Mutation_p.P698L|LTBP1_ENST00000390003.4_Missense_Mutation_p.P699L|LTBP1_ENST00000354476.3_Missense_Mutation_p.P1025L|LTBP1_ENST00000418533.2_Missense_Mutation_p.P698L|LTBP1_ENST00000402934.1_Missense_Mutation_p.P645L Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1024 EGF-like 7; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CAGTGCGTTCCCTGCACAGAA 0.423000 18 47 0 0 0.006122 0 0 DCUN1D3 123879 broad.mit.edu 37 16 20873521 20873521 + Missense_Mutation SNP A A C TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr16:20873521A>C ENST00000324344.3 - 2 625 c.340T>G c.(340-342)Ttt>Gtt p.F114V DCUN1D3_ENST00000563934.1_Missense_Mutation_p.F114V|ERI2_ENST00000564349.1_Intron NM_173475.2 NP_775746.1 Q8IWE4 DCNL3_HUMAN DCN1, defective in cullin neddylation 1, domain containing 3 114 DCUN1. negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C perinuclear region of cytoplasm NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2) 14 GBM - Glioblastoma multiforme(48;0.249) TCATTGCAAAAGCGCTCCATG 0.502000 28 78 0 0 0.005443 0 0 RNF111 54778 broad.mit.edu 37 15 59381920 59381920 + Missense_Mutation SNP G G C TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr15:59381920G>C ENST00000348370.4 + 11 3038 c.2605G>C c.(2605-2607)Gga>Cga p.G869R RNF111_ENST00000561186.1_Missense_Mutation_p.G878R|RNF111_ENST00000557998.1_Missense_Mutation_p.G869R|RNF111_ENST00000434298.1_Missense_Mutation_p.G878R|RNF111_ENST00000559209.1_Missense_Mutation_p.G878R NM_001270528.1|NM_001270529.1|NM_017610.7 NP_001257457.1|NP_001257458.1|NP_060080.6 Q6ZNA4 RN111_HUMAN ring finger protein 111 869 multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all cancers(107;0.194) AGGATTGGATGGAACATCATT 0.343000 73 193 0 0 0.003610 0 0 CCDC30 728621 broad.mit.edu 37 1 43119491 43119491 + Missense_Mutation SNP T T C TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:43119491T>C ENST00000428554.2 + 23 3287 c.2144T>C c.(2143-2145)tTt>tCt p.F715S CCDC30_ENST00000390640.4_Missense_Mutation_p.F504S|CCDC30_ENST00000340612.4_Missense_Mutation_p.F715S|CCDC30_ENST00000342022.4_Missense_Mutation_p.F715S|CCDC30_ENST00000507855.1_Missense_Mutation_p.F504S Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 715 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 TTTCTTAGTTTTTCAGGAAAA 0.383000 7 28 0 0 0.003080 0 0 DCHS2 54798 broad.mit.edu 37 4 155312345 155312345 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr4:155312345C>T ENST00000357232.3 - 1 104 c.105G>A c.(103-105)gtG>gtA p.V35V DCHS2_ENST00000339452.1_Intron NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 35 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AATTTATTTTCACATACACCT 0.328000 8 26 0 0 0.000978 0 0 MAD2L2 10459 broad.mit.edu 37 1 11736106 11736106 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:11736106G>A ENST00000235310.3 - 8 1352 c.424C>T c.(424-426)Cca>Tca p.P142S MAD2L2_ENST00000376667.3_Missense_Mutation_p.P142S|MAD2L2_ENST00000376692.4_Missense_Mutation_p.P142S|MAD2L2_ENST00000376669.5_Missense_Mutation_p.P155S|MAD2L2_ENST00000376672.1_Missense_Mutation_p.P155S Q9UI95 MD2L2_HUMAN MAD2 mitotic arrest deficient-like 2 (yeast) 142 HORMA.|Mediates interaction with REV1 and REV3L and homodimerization. cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex JUN kinase binding kidney(1)|large_intestine(1)|lung(2)|ovary(1) 5 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GACACACCTGGGGGGTTGTGG 0.577000 DNA polymerases (catalytic subunits) 13 39 0 0 0.004007 0 0 GRID2 2895 broad.mit.edu 37 4 94436522 94436522 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr4:94436522C>T ENST00000282020.4 + 13 2411 c.2153C>T c.(2152-2154)tCg>tTg p.S718L GRID2_ENST00000510992.1_Missense_Mutation_p.S623L NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 718 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.S718L(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) AGCAATGGATCGGAGAACAAT 0.468000 14 51 0 0 0.006122 0 0 CNGB1 1258 broad.mit.edu 37 16 57984328 57984328 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr16:57984328G>A ENST00000564448.1 - 13 1033 c.973C>T c.(973-975)Cca>Tca p.P325S CNGB1_ENST00000251102.8_Missense_Mutation_p.P331S Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 331 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 TCATAAGCTGGAACCACCTCT 0.517000 30 60 0 0 0.004289 0 0 XIRP1 165904 broad.mit.edu 37 3 39226585 39226585 + Missense_Mutation SNP T T C TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:39226585T>C ENST00000340369.3 - 2 4580 c.4352A>G c.(4351-4353)gAa>gGa p.E1451G XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.E134G NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1451 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GTGGGAACCTTCCATGGGCTG 0.622000 37 120 0 0 0.007835 0 0 P2RY14 9934 broad.mit.edu 37 3 150931772 150931772 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:150931772G>A ENST00000309170.3 - 3 645 c.333C>T c.(331-333)ttC>ttT p.F111F P2RY14_ENST00000424796.2_Silent_p.F111F|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron NM_001081455.1|NM_014879.3 NP_001074924.1|NP_055694.3 Q15391 P2Y14_HUMAN purinergic receptor P2Y, G-protein coupled, 14 111 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1) 20 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGAGCCCAAAGAACACAATGC 0.463000 13 36 0 0 0.001855 0 0 AMZ1 155185 broad.mit.edu 37 7 2752501 2752501 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr7:2752501G>A ENST00000312371.4 + 7 1854 c.1486G>A c.(1486-1488)Gaa>Aaa p.E496K AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron NM_133463.1 NP_597720.1 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 496 metallopeptidase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) CTGGGATGGGGAAGAGAGTTA 0.617000 33 39 0 0 0.002445 0 0 PSG9 5678 broad.mit.edu 37 19 43763198 43763198 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr19:43763198C>T ENST00000418820.2 - 3 618 c.520G>A c.(520-522)Gag>Aag p.E174K PSG9_ENST00000593948.1_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.E267K|PSG9_ENST00000443718.3_Missense_Mutation_p.E174K|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000244293.7_Intron Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 174 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GTGTAGTTCTCACTCTTAGGT 0.498000 85 185 0 0 0.003610 0 0 IQCF1 132141 broad.mit.edu 37 3 51928965 51928965 + Missense_Mutation SNP A A T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:51928965A>T ENST00000310914.5 - 4 621 c.559T>A c.(559-561)Ttg>Atg p.L187M NM_152397.2 NP_689610.2 Q8N6M8 IQCF1_HUMAN IQ motif containing F1 187 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GAGTCCAGCAAGATCTCCAGC 0.527000 39 69 0 0 0.004289 0 0 CCDC88C 440193 broad.mit.edu 37 14 91791208 91791208 + Missense_Mutation SNP C C A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr14:91791208C>A ENST00000389857.6 - 12 1343 c.1257G>T c.(1255-1257)gaG>gaT p.E419D NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 419 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TCTGTGCAATCTCAAGGACCA 0.547000 25 65 9.57634e-11 1.08775e-10 0.003330 1 0 MXRA5 25878 broad.mit.edu 37 X 3240718 3240718 + Missense_Mutation SNP G G T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chrX:3240718G>T ENST00000217939.6 - 5 3162 c.3008C>A c.(3007-3009)cCa>cAa p.P1003Q NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1003 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GGTGGGGGTTGGAGTAAGGTG 0.463000 39 38 4.32679e-17 4.92806e-17 0.006999 1 0 PLD5 200150 broad.mit.edu 37 1 242253348 242253348 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:242253348C>T ENST00000442594.2 - 11 1652 c.1143G>A c.(1141-1143)caG>caA p.Q381Q PLD5_ENST00000427495.1_Silent_p.Q411Q|PLD5_ENST00000536534.1_Silent_p.Q473Q NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 473 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) TCACATCTGCCTGGTTGATAA 0.413000 28 134 0 0 0.004656 0 0 NETO1 81832 broad.mit.edu 37 18 70423306 70423306 + Missense_Mutation SNP C C G TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr18:70423306C>G ENST00000327305.6 - 8 1602 c.945G>C c.(943-945)caG>caC p.Q315H NETO1_ENST00000299430.2_Missense_Mutation_p.Q314H|NETO1_ENST00000583169.1_Missense_Mutation_p.Q315H NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 315 LDL-receptor class A. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) ACACACAGTTCTGGAGTCCAT 0.373000 16 54 0 0 0.002299 0 0 PCSK9 255738 broad.mit.edu 37 1 55518345 55518345 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:55518345G>A ENST00000302118.5 + 5 970 c.680G>A c.(679-681)gGc>gAc p.G227D PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000452118.2_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.G27D NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 227 Peptidase S8. cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 GACAGTCATGGCACCCACCTG 0.632000 94 221 0 0 0.003610 0 0 GNAI1 2770 broad.mit.edu 37 7 79764527 79764527 + Missense_Mutation SNP G G C TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr7:79764527G>C ENST00000351004.3 + 1 424 c.51G>C c.(49-51)aaG>aaC p.K17N GNAI1_ENST00000490206.1_3'UTR NM_002069.5 NP_002060.4 P63096 GNAI1_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 17 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody|nucleus G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 19 AGCGGAGTAAGATGATCGACC 0.731000 4 38 0 0 0.000248 0 0 CELF5 60680 broad.mit.edu 37 19 3224881 3224881 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr19:3224881C>T ENST00000541430.2 + 1 180 c.144C>T c.(142-144)ttC>ttT p.F48F CELF5_ENST00000292672.2_Silent_p.F48F NM_001172673.1 NP_001166144.1 Q8N6W0 CELF5_HUMAN CUGBP, Elav-like family member 5 48 RRM 1. mRNA processing cytoplasm|nucleus nucleotide binding|RNA binding kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 13 TCAAACTCTTCGTGGGCCAGA 0.687000 7 16 0 0 0.003080 0 0 DDX17 10521 broad.mit.edu 37 22 38884057 38884057 + Missense_Mutation SNP T T C TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr22:38884057T>C ENST00000396821.3 - 12 1610 c.1511A>G c.(1510-1512)cAc>cGc p.H504R DDX17_ENST00000444597.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.H427R NM_001098504.1|NM_006386.4 NP_001091974.1|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 425 RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) GCCAATACGGTGCACATAATC 0.478000 41 66 0 0 0.008740 0 0 C11orf85 283129 broad.mit.edu 37 11 64707209 64707209 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:64707209C>T ENST00000536065.1 - 11 1627 c.323G>A c.(322-324)cGa>cAa p.R108Q C11orf85_ENST00000530444.1_Missense_Mutation_p.R136Q|C11orf85_ENST00000301896.5_Missense_Mutation_p.E193K|C11orf85_ENST00000432175.1_Missense_Mutation_p.E193K Q3KP22 CK085_HUMAN chromosome 11 open reading frame 85 0 breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 7 TGGGACAATTCGCCCTGGCAG 0.532000 34 58 0 0 0.003271 0 0 SHANK2 22941 broad.mit.edu 37 11 70332969 70332969 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:70332969G>A ENST00000338508.4 - 32 3431 c.3432C>T c.(3430-3432)tcC>tcT p.S1144S SHANK2_ENST00000449833.2_Silent_p.S548S|SHANK2_ENST00000423696.2_Silent_p.S764S|SHANK2_ENST00000409161.1_Silent_p.S547S Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 764 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TCGGCATGGGGGATGACAGCT 0.682000 18 40 0 0 0.007413 0 0 RCN3 57333 broad.mit.edu 37 19 50040373 50040373 + Nonsense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr19:50040373C>T ENST00000270645.3 + 4 976 c.529C>T c.(529-531)Cag>Tag p.Q177* NM_020650.2 NP_065701.2 Q96D15 RCN3_HUMAN reticulocalbin 3, EF-hand calcium binding domain 177 EF-hand 3. endoplasmic reticulum lumen calcium ion binding|protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159) GGTGGCCGACCAGGATGGGGA 0.602000 52 129 0 0 0.003610 0 0 FAR2P1 440905 broad.mit.edu 37 2 130792745 130792745 + RNA SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:130792745G>A ENST00000325390.3 - 0 2583 NR_026758.1 ACAGCTAGTGGGAGATTGACG 0.488000 12 24 0 0 0.000978 0 0 TMEM104 54868 broad.mit.edu 37 17 72815924 72815924 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr17:72815924C>T ENST00000335464.5 + 9 834 c.672C>T c.(670-672)ttC>ttT p.F224F TMEM104_ENST00000417024.2_Silent_p.F237F|TMEM104_ENST00000582330.1_Silent_p.F224F|TMEM104_ENST00000582773.1_Silent_p.F224F NM_017728.3 NP_060198.3 Q8NE00 TM104_HUMAN transmembrane protein 104 224 integral to membrane NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) CGTTCACCTTCTTTGACGTCC 0.557000 21 67 0 0 0.002299 0 0 UBE2Q1 55585 broad.mit.edu 37 1 154524607 154524607 + Nonsense_Mutation SNP C C A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:154524607C>A ENST00000292211.4 - 8 1007 c.928G>T c.(928-930)Gaa>Taa p.E310* NM_017582.6 NP_060052.3 Q7Z7E8 UB2Q1_HUMAN ubiquitin-conjugating enzyme E2Q family member 1 310 ATP binding|protein binding|ubiquitin-protein ligase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) TCGGCTCCTTCTTTCTCTTTG 0.498000 24 120 1.04121e-07 1.17948e-07 0.005443 1 0 NAV2 89797 broad.mit.edu 37 11 20104680 20104680 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:20104680C>T ENST00000396085.1 + 27 5823 c.5462C>T c.(5461-5463)tCc>tTc p.S1821F NAV2_ENST00000360655.4_Missense_Mutation_p.S1754F|NAV2_ENST00000540292.1_Missense_Mutation_p.S1808F|NAV2_ENST00000349880.4_Missense_Mutation_p.S1818F|NAV2_ENST00000527559.2_Missense_Mutation_p.S1806F|NAV2_ENST00000396087.3_Missense_Mutation_p.S1877F|NAV2_ENST00000311043.8_Missense_Mutation_p.S882F|NAV2_ENST00000533917.1_Missense_Mutation_p.S882F NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1877 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CACAATGGGTCCACAGGTTCC 0.488000 31 60 0 0 0.002836 0 0 ZNF514 84874 broad.mit.edu 37 2 95815791 95815791 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:95815791G>A ENST00000295208.2 - 5 901 c.439C>T c.(439-441)Ctt>Ttt p.L147F ZNF514_ENST00000411425.1_Missense_Mutation_p.L147F NM_032788.1 NP_116177.1 Q96K75 ZN514_HUMAN zinc finger protein 514 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 TCTCTGCTAAGGGTGGTGGCA 0.428000 29 79 0 0 0.008361 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3140469 3140469 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr16:3140469G>A ENST00000252463.2 - 5 888 c.801C>T c.(799-801)tcC>tcT p.S267S ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Silent_p.S185S NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 267 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 TGCCAAGAAGGGACCCATCTT 0.642000 33 97 0 0 0.002445 0 0 GPCPD1 56261 broad.mit.edu 37 20 5566885 5566885 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr20:5566885G>A ENST00000379019.4 - 5 474 c.262C>T c.(262-264)Cac>Tac p.H88Y NM_019593.3 NP_062539.1 Q9NPB8 GPCP1_HUMAN glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) 88 CBM20.|Substrate binding (Potential). glycerol metabolic process|lipid metabolic process carbohydrate binding|glycerophosphodiester phosphodiesterase activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1) 16 TCCCACTTGTGAACTATCACT 0.368000 21 85 0 0 0.002780 0 0 GPR98 84059 broad.mit.edu 37 5 89971227 89971227 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr5:89971227G>A ENST00000405460.2 + 24 5374 c.5278G>A c.(5278-5280)Gtg>Atg p.V1760M GPR98_ENST00000450321.2_3'UTR NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1760 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATTTAGAACAGTGTCCTTGAC 0.443000 6 20 0 0 0.003080 0 0 OR10W1 81341 broad.mit.edu 37 11 58034641 58034641 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:58034641G>A ENST00000395079.2 - 1 1091 c.690C>T c.(688-690)tcC>tcT p.S230S NM_207374.3 NP_997257.2 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, member 1 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1) 26 Breast(21;0.0589) AAGAGCAGGTGGAGAAGGCCC 0.587000 31 56 0 0 0.001786 0 0 SFTA3 253970 broad.mit.edu 37 14 36960451 36960451 + Nonsense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr14:36960451G>A ENST00000518529.2 - 2 763 c.88C>T c.(88-90)Caa>Taa p.Q30* SFTA3_ENST00000518987.1_5'UTR|RP11-896J10.3_ENST00000521945.1_RNA NM_001101341.1 NP_001094811.1 P0C7M3 SFTA3_HUMAN surfactant associated 3 30 breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1) 7 CCTGATAATTGGAGCCATTCA 0.393000 4 11 0 0 0.000602 0 0 SLFN11 91607 broad.mit.edu 37 17 33690245 33690245 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr17:33690245G>A ENST00000394566.1 - 4 854 c.582C>T c.(580-582)ttC>ttT p.F194F SLFN11_ENST00000308377.4_Silent_p.F194F NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 194 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGTCTTTTTGGAAAATTAGGT 0.403000 42 103 0 0 0.002222 0 0 KIAA1377 57562 broad.mit.edu 37 11 101833617 101833617 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:101833617G>A ENST00000263468.8 + 6 2121 c.1851G>A c.(1849-1851)aaG>aaA p.K617K KIAA1377_ENST00000537689.1_Silent_p.K418K NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 617 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) AATTAACAAAGGAAAAAGGTG 0.313000 15 37 0 0 0.004007 0 0 OR6C70 390327 broad.mit.edu 37 12 55863568 55863568 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr12:55863568C>T ENST00000327335.4 - 1 354 c.355G>A c.(355-357)Gat>Aat p.D119N RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA NM_001005499.1 NP_001005499.1 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, member 70 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 ACATAGCGATCATAGGACAGA 0.398000 21 34 0 0 0.001523 0 0 PPP4R4 57718 broad.mit.edu 37 14 94708704 94708704 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr14:94708704G>A ENST00000304338.3 + 11 1379 c.1225G>A c.(1225-1227)Gaa>Aaa p.E409K NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 409 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 CCATGACCCTGAAGTACCAGT 0.383000 40 104 0 0 0.008740 0 0 SUPT16H 11198 broad.mit.edu 37 14 21821653 21821653 + Nonsense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr14:21821653G>A ENST00000216297.2 - 25 3330 c.2992C>T c.(2992-2994)Cga>Tga p.R998* NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 998 Glu-rich (acidic). DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) AAACCTTTTCGGGCTTCTTCC 0.348000 32 75 0 0 0.003755 0 0 SPIDR 23514 broad.mit.edu 37 8 48353042 48353042 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr8:48353042C>T ENST00000297423.4 + 8 1419 c.1035C>T c.(1033-1035)acC>acT p.T345T SPIDR_ENST00000541342.1_Silent_p.T275T|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Silent_p.T285T NM_001080394.2 NP_001073863.1 scaffolding protein involved in DNA repair TTCTCTTCACCAAGGAGACTG 0.582000 31 110 0 0 0.004289 0 0 DNAH10 196385 broad.mit.edu 37 12 124283838 124283838 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr12:124283838G>A ENST00000409039.3 + 13 1880 c.1855G>A c.(1855-1857)Gaa>Aaa p.E619K NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 619 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GAAGGAGTATGAAGACAGAAA 0.443000 10 31 0 0 0.000978 0 0 LIMK2 3985 broad.mit.edu 37 22 31664134 31664134 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr22:31664134C>T ENST00000331728.4 + 11 1379 c.1265C>T c.(1264-1266)cCg>cTg p.P422L LIMK2_ENST00000406516.1_Missense_Mutation_p.P344L|LIMK2_ENST00000340552.4_Missense_Mutation_p.P401L|LIMK2_ENST00000333611.4_Missense_Mutation_p.P401L|LIMK2_ENST00000444929.2_Missense_Mutation_p.P176L NM_005569.3 NP_005560.1 P53671 LIMK2_HUMAN LIM domain kinase 2 422 Protein kinase. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 CTGCAGGATCCGTTCCCCTGG 0.587000 30 87 0 0 0.003271 0 0 DNAH5 1767 broad.mit.edu 37 5 13931251 13931251 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr5:13931251C>T ENST00000265104.4 - 2 264 c.160G>A c.(160-162)Gaa>Aaa p.E54K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 54 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E54K(2) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCCTCCACTTCGGTTTTGTTC 0.488000 Kartagener syndrome 17 60 0 0 0.006122 0 0 AFF3 3899 broad.mit.edu 37 2 100623390 100623390 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:100623390G>A ENST00000317233.4 - 6 812 c.577C>T c.(577-579)Ctt>Ttt p.L193F AFF3_ENST00000409579.1_Missense_Mutation_p.L218F|AFF3_ENST00000409236.1_Missense_Mutation_p.L193F|AFF3_ENST00000356421.2_Missense_Mutation_p.L218F NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 193 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TGGGTCTGAAGGCCCACCTCC 0.577000 26 57 0 0 0.004656 0 0 TIMD4 91937 broad.mit.edu 37 5 156349165 156349165 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr5:156349165G>A ENST00000274532.2 - 7 1013 c.957C>T c.(955-957)atC>atT p.I319I TIMD4_ENST00000407087.3_Silent_p.I291I|TIMD4_ENST00000406964.1_Silent_p.I21I NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 319 integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGGAGGGGGCGATGATCATCA 0.527000 102 260 0 0 0.003610 0 0 RANBP9 10048 broad.mit.edu 37 6 13642741 13642741 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr6:13642741C>T ENST00000011619.3 - 7 1253 c.1195G>A c.(1195-1197)Gaa>Aaa p.E399K RANBP9_ENST00000539980.1_Missense_Mutation_p.E170K NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 399 axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) GCTAATTCTTCTAGAACGGTC 0.363000 17 28 0 0 0.004990 0 0 OR10J1 26476 broad.mit.edu 37 1 159410389 159410389 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:159410389G>A ENST00000423932.3 + 1 878 c.841G>A c.(841-843)Gac>Aac p.D281N RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 281 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) CAGAGAACATGACCAGCTGAT 0.517000 22 121 0 0 0.002299 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18159526 18159526 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:18159526C>T ENST00000396275.2 + 3 1138 c.777C>T c.(775-777)ttC>ttT p.F259F NM_054031.3 NP_473372.3 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 259 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 TTTCCATTTTCCTGTCCGCTC 0.493000 24 55 0 0 0.002780 0 0 MFSD4 148808 broad.mit.edu 37 1 205553197 205553197 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:205553197C>T ENST00000367147.4 + 4 898 c.805C>T c.(805-807)Cct>Tct p.P269S MFSD4_ENST00000539267.1_Missense_Mutation_p.P269S|MFSD4_ENST00000536357.1_Missense_Mutation_p.P182S NM_181644.4 NP_857595.3 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 4 269 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) GGAGACACAGCCTCCTGAGAA 0.577000 4 118 0 0 0.000248 0 0 OR4C15 81309 broad.mit.edu 37 11 55322305 55322305 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:55322305C>T ENST00000314644.2 + 1 523 c.523C>T c.(523-525)Cgt>Tgt p.R175C NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 GGCCTATGATCGTTATGTGGC 0.507000 HNSCC(20;0.049) 35 103 0 0 0.003755 0 0 CSMD3 114788 broad.mit.edu 37 8 113275983 113275983 + Silent SNP G G A rs61754530 TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr8:113275983G>A ENST00000297405.5 - 61 9991 c.9747C>T c.(9745-9747)ttC>ttT p.F3249F CSMD3_ENST00000343508.3_Silent_p.F3209F|CSMD3_ENST00000455883.2_Silent_p.F3080F|CSMD3_ENST00000352409.3_Silent_p.F3179F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3249 Sushi 25. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGCCCCAGTCGAAATTTGTTC 0.453000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 46 0 0 0.007291 0 0 CAGE1 285782 broad.mit.edu 37 6 7379053 7379053 + Nonsense_Mutation SNP T T A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr6:7379053T>A ENST00000502583.1 - 4 1048 c.484A>T c.(484-486)Aag>Tag p.K162* CAGE1_ENST00000512086.1_Nonsense_Mutation_p.K162*|CAGE1_ENST00000379918.4_Nonsense_Mutation_p.K162*|CAGE1_ENST00000509324.1_Intron|CAGE1_ENST00000296742.7_Nonsense_Mutation_p.K26*|CAGE1_ENST00000338150.4_Nonsense_Mutation_p.K162* NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 162 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) TTTTCTTCCTTAAATGAGTCT 0.378000 15 27 0 0 0.002450 0 0 CNTN4 152330 broad.mit.edu 37 3 2787249 2787249 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:2787249C>T ENST00000397461.1 + 5 610 c.226C>T c.(226-228)Cgc>Tgc p.R76C CNTN4_ENST00000418658.1_Missense_Mutation_p.R76C|CNTN4_ENST00000427331.1_Missense_Mutation_p.R76C NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 76 Ig-like C2-type 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TATGGATTTCCGCTACAGTGT 0.383000 27 91 0 0 0.007291 0 0 KIF20B 9585 broad.mit.edu 37 10 91497679 91497679 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr10:91497679C>T ENST00000416354.1 + 20 3243 c.3171C>T c.(3169-3171)gaC>gaT p.D1057D KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Silent_p.D987D|KIF20B_ENST00000394289.2_Silent_p.D1027D|KIF20B_ENST00000371728.3_Silent_p.D1027D Q96Q89 KI20B_HUMAN kinesin family member 20B 1027 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 CACAGTTAGACCTTTTAGGTA 0.338000 29 65 0 0 0.006320 0 0 NBPF1 55672 broad.mit.edu 37 1 16902870 16902870 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:16902870C>T ENST00000430580.2 - 19 2898 c.2011G>A c.(2011-2013)Gcc>Acc p.A671T NBPF1_ENST00000287968.8_Missense_Mutation_p.A36T|NBPF1_ENST00000432949.1_Missense_Mutation_p.A129T NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 671 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GTGAGGAGGGCCTGGAGATGC 0.557000 73 771 0 0 0.003610 0 0 FAT4 79633 broad.mit.edu 37 4 126239235 126239235 + Nonsense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr4:126239235C>T ENST00000394329.3 + 1 1682 c.1669C>T c.(1669-1671)Cag>Tag p.Q557* NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 557 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TGCCCGGGACCAGGGAGTTCA 0.517000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 22 0 0 0.006122 0 0 MASP1 5648 broad.mit.edu 37 3 186954073 186954073 + Missense_Mutation SNP G G A rs142630054 TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:186954073G>A ENST00000296280.6 - 11 1811 c.1586C>T c.(1585-1587)tCg>tTg p.S529L MASP1_ENST00000392472.2_Missense_Mutation_p.S416L|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000495249.1_5'UTR NM_139125.3 NP_624302.1 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 528 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) GACTGCCCCCGATTTGTCTCG 0.567000 13 53 0 0 0.002450 0 0 GGCX 2677 broad.mit.edu 37 2 85777220 85777220 + Missense_Mutation SNP T T C TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:85777220T>C ENST00000233838.3 - 15 2194 c.2114A>G c.(2113-2115)aAt>aGt p.N705S GGCX_ENST00000430215.3_Missense_Mutation_p.N648S NM_000821.5 NP_000812.2 P38435 VKGC_HUMAN gamma-glutamyl carboxylase 705 blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2) 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) TAATATCAGATTTCGAAGTGA 0.463000 17 45 0 0 0.007413 0 0 BRD4 23476 broad.mit.edu 37 19 15383775 15383775 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr19:15383775G>A ENST00000263377.2 - 2 357 c.136C>T c.(136-138)Ccg>Tcg p.P46S BRD4_ENST00000371835.4_Missense_Mutation_p.P46S|BRD4_ENST00000360016.5_Missense_Mutation_p.P46S NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 46 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) TCTGGGGGCGGGGGGTTGGTG 0.557000 T C15orf55 lethal midline carcinoma of young people 48 128 0 0 0.003610 0 0 PTPN14 5784 broad.mit.edu 37 1 214556993 214556993 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:214556993G>A ENST00000366956.5 - 13 2399 c.2205C>T c.(2203-2205)gcC>gcT p.A735A PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 735 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CCTGCAGCTGGGCACTGTACT 0.632000 13 89 0 0 0.001855 0 0 ZBED2 79413 broad.mit.edu 37 3 111312580 111312580 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:111312580C>T ENST00000317012.4 - 2 1477 c.469G>A c.(469-471)Gaa>Aaa p.E157K CD96_ENST00000352690.4_Intron|CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron NM_024508.4 NP_078784.2 Q9BTP6 ZBED2_HUMAN zinc finger, BED-type containing 2 157 DNA binding|metal ion binding large_intestine(3)|lung(1)|skin(2) 6 ACCTCCTTTTCCCTTTGGCTG 0.627000 28 73 0 0 0.001786 0 0 ZNF35 7584 broad.mit.edu 37 3 44700266 44700266 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:44700266C>T ENST00000296092.3 + 3 486 c.266C>T c.(265-267)tCa>tTa p.S89L ZNF35_ENST00000453164.1_Missense_Mutation_p.S89L|ZNF35_ENST00000399560.2_Missense_Mutation_p.S89L|ZNF35_ENST00000396056.2_Silent_p.I137I|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_5'UTR P13682 ZNF35_HUMAN zinc finger protein 35 0 Globular domain. cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) AACCCCTCATCATATCAGAAA 0.393000 17 49 0 0 0.004990 0 0 PPP4R4 57718 broad.mit.edu 37 14 94700961 94700961 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr14:94700961G>A ENST00000304338.3 + 7 840 c.686G>A c.(685-687)cGa>cAa p.R229Q NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 229 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 TATGAAGTTCGATCTTGTATG 0.388000 9 34 0 0 0.000978 0 0 GCK 2645 broad.mit.edu 37 7 44190560 44190560 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr7:44190560C>T ENST00000403799.3 - 4 947 c.478G>A c.(478-480)Gat>Aat p.D160N GCK_ENST00000395796.3_Missense_Mutation_p.D159N|GCK_ENST00000437084.1_Missense_Mutation_p.D143N|GCK_ENST00000345378.2_Missense_Mutation_p.D161N NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) 160 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 CCCACCTTATCGATGTCTTCG 0.567000 155 228 0 0 0.003610 0 0 ZNF384 171017 broad.mit.edu 37 12 6781621 6781621 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr12:6781621G>A ENST00000396801.3 - 8 1196 c.989C>T c.(988-990)tCc>tTc p.S330F ZNF384_ENST00000361959.3_Missense_Mutation_p.S330F|ZNF384_ENST00000396795.1_Intron|ZNF384_ENST00000319770.3_Intron|ZNF384_ENST00000396799.2_Intron|ZNF384_ENST00000355772.4_Intron NM_001135734.2 NP_001129206.1 Q8TF68 ZN384_HUMAN zinc finger protein 384 330 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 18 GGCCAGGTAGGAGGTGTTGGC 0.622000 T """EWSR1, TAF15 """ ALL 10 32 0 0 0.006214 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 39 0 0 0.004672 0 0 OR7D2 162998 broad.mit.edu 37 19 9296742 9296742 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr19:9296742G>A ENST00000344248.2 + 1 464 c.285G>A c.(283-285)atG>atA p.M95I NM_175883.2 NP_787079.1 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, member 2 95 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 TCTCCTACATGGACTGCCTCA 0.517000 30 104 0 0 0.002836 0 0 KCNB1 3745 broad.mit.edu 37 20 47991189 47991189 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr20:47991189C>T ENST00000371741.4 - 2 1074 c.908G>A c.(907-909)cGa>cAa p.R303Q NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 303 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GCGGAGAATTCGCATGATGCG 0.532000 31 55 0 0 0.002445 0 0 ANK1 286 broad.mit.edu 37 8 41552191 41552191 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr8:41552191G>A ENST00000396942.1 - 28 3329 c.3246C>T c.(3244-3246)tcC>tcT p.S1082S ANK1_ENST00000265709.8_Silent_p.S1123S|ANK1_ENST00000347528.4_Silent_p.S1082S|ANK1_ENST00000379758.2_Silent_p.S1082S|ANK1_ENST00000396945.1_Silent_p.S1082S|ANK1_ENST00000352337.4_Silent_p.S1082S|ANK1_ENST00000289734.7_Silent_p.S1082S P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1082 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TGCTCTTCAGGGAGCCCCCTT 0.612000 22 49 0 0 0.002780 0 0 AQR 9716 broad.mit.edu 37 15 35212628 35212628 + Missense_Mutation SNP T T A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr15:35212628T>A ENST00000156471.5 - 14 1351 c.1126A>T c.(1126-1128)Aca>Tca p.T376S NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 376 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TGGTGGAGTGTGTTTGAACTG 0.318000 6 17 0 0 0.003080 0 0 TELO2 9894 broad.mit.edu 37 16 1551436 1551436 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr16:1551436C>T ENST00000262319.6 + 10 1576 c.1297C>T c.(1297-1299)Ctg>Ttg p.L433L NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 433 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) AGAGGATGAACTGAGCCTCGA 0.726000 11 21 0 0 0.008291 0 0 DDX60L 91351 broad.mit.edu 37 4 169354261 169354261 + Missense_Mutation SNP A A T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr4:169354261A>T ENST00000511577.1 - 11 1547 c.1300T>A c.(1300-1302)Tcc>Acc p.S434T DDX60L_ENST00000260184.7_Missense_Mutation_p.S434T|DDX60L_ENST00000505890.1_Missense_Mutation_p.S434T Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 434 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) TTTTCCAAGGAGATTTCTGAA 0.299000 6 13 0 0 0.001168 0 0 ZNF286B 729288 broad.mit.edu 37 17 18565894 18565894 + Missense_Mutation SNP T T G TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr17:18565894T>G ENST00000545289.1 - 5 1175 c.925A>C c.(925-927)Aca>Cca p.T309P NM_001145045.1 NP_001138517.1 P0CG31 Z286B_HUMAN zinc finger protein 286B 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(1) 2 GAGCTTTCTGTGAAGGTTTTC 0.383000 11 51 0 0 0.000978 0 0 IL13RA2 3598 broad.mit.edu 37 X 114245315 114245315 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chrX:114245315G>A ENST00000371936.1 - 7 847 c.598C>T c.(598-600)Ccc>Tcc p.P200S IL13RA2_ENST00000243213.1_Missense_Mutation_p.P200S Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 200 Fibronectin type-III 2. extracellular space|integral to membrane|soluble fraction cytokine receptor activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 23 TCCAAATAGGGAAATCTGCAT 0.368000 24 23 0 0 0.002299 0 0 ANK3 288 broad.mit.edu 37 10 61835104 61835104 + Missense_Mutation SNP A A T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr10:61835104A>T ENST00000280772.1 - 37 5726 c.5535T>A c.(5533-5535)ttT>ttA p.F1845L ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1845 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTGATTTTGTAAATGAATTAG 0.403000 42 63 0 0 0.002222 0 0 OR10K1 391109 broad.mit.edu 37 1 158435597 158435597 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:158435597G>A ENST00000289451.2 + 1 326 c.246G>A c.(244-246)ctG>ctA p.L82L NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) CCAAGATGCTGGTTGACCTGC 0.483000 155 132 0 0 0.003610 0 0 BRCA2 675 broad.mit.edu 37 13 32950923 32950923 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr13:32950923C>T ENST00000544455.1 + 21 8976 c.8749C>T c.(8749-8751)Ctt>Ttt p.L2917F BRCA2_ENST00000380152.3_Missense_Mutation_p.L2917F NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 2917 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CCCAGCTTACCTTGAGGTGAG 0.438000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 13 15 0 0 0.001368 0 0 MARS 4141 broad.mit.edu 37 12 57906612 57906612 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr12:57906612G>A ENST00000262027.5 + 15 1966 c.1832G>A c.(1831-1833)gGg>gAg p.G611E MARS_ENST00000315473.5_Missense_Mutation_p.G377E NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 611 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 33 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) CAGGACACGGGGATCCCTGCT 0.542000 39 116 0 0 0.006230 0 0 ASCC2 84164 broad.mit.edu 37 22 30221628 30221628 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr22:30221628C>T ENST00000397771.2 - 4 400 c.223G>A c.(223-225)Gat>Aat p.D75N ASCC2_ENST00000307790.3_Missense_Mutation_p.D75N|ASCC2_ENST00000542393.1_Intron Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 2 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) CAGAATTTATCGTGAGGCAAG 0.502000 34 70 0 0 0.002445 0 0 EIF2B1 1967 broad.mit.edu 37 12 124111662 124111662 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr12:124111662G>A ENST00000424014.2 - 5 619 c.411C>T c.(409-411)gtC>gtT p.V137V EIF2B1_ENST00000539951.1_Silent_p.V124V|EIF2B1_ENST00000537073.1_Silent_p.V137V NM_001414.3 NP_001405.1 Q14232 EI2BA_HUMAN eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa 137 cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane protein binding|translation initiation factor activity breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489) CTGCTTCCAGGACTCTCAGGA 0.527000 21 77 0 0 0.002299 0 0 DOK7 285489 broad.mit.edu 37 4 3478206 3478206 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr4:3478206C>T ENST00000340083.5 + 4 534 c.469C>T c.(469-471)Ctc>Ttc p.L157F DOK7_ENST00000507039.1_Missense_Mutation_p.L157F|DOK7_ENST00000389653.2_Missense_Mutation_p.L157F NM_173660.4 NP_775931.3 Q18PE1 DOK7_HUMAN docking protein 7 157 IRS-type PTB. positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GCTGTCTGACCTCCGGCGCTA 0.637000 23 70 0 0 0.002299 0 0 NAGA 4668 broad.mit.edu 37 22 42456971 42456971 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr22:42456971G>A ENST00000396398.3 - 8 1590 c.1058C>T c.(1057-1059)tCc>tTc p.S353F NAGA_ENST00000402937.1_Missense_Mutation_p.S353F|NAGA_ENST00000403363.1_Missense_Mutation_p.S353F NM_000262.2 NP_000253.1 P17050 NAGAB_HUMAN N-acetylgalactosaminidase, alpha- 353 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 GCCAAGGGAGGAGTGGTAGCG 0.557000 20 63 0 0 0.002299 0 0 LTBP2 4053 broad.mit.edu 37 14 74968203 74968203 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr14:74968203C>T ENST00000261978.4 - 35 5647 c.5261G>A c.(5260-5262)gGc>gAc p.G1754D LTBP2_ENST00000556690.1_Missense_Mutation_p.G1710D NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1754 EGF-like 19; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) ACAGGTGTAGCCCTCCCGCAC 0.632000 OREG0022805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 81 0 0 0.002096 0 0 CLCN6 1185 broad.mit.edu 37 1 11896130 11896130 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:11896130C>T ENST00000346436.6 + 18 1952 c.1900C>T c.(1900-1902)Ccg>Tcg p.P634S CLCN6_ENST00000376496.3_Missense_Mutation_p.P634S|CLCN6_ENST00000376487.3_Missense_Mutation_p.P612S|CLCN6_ENST00000312413.6_3'UTR NM_001286.3 NP_001277.1 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 634 CBS 1. cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) CCATGCCTTCCCGGTGGTCAC 0.557000 7 22 0 0 0.001984 0 0 ZBTB49 166793 broad.mit.edu 37 4 4322648 4322648 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr4:4322648C>T ENST00000337872.4 + 8 2024 c.1903C>T c.(1903-1905)Cac>Tac p.H635Y ZBTB49_ENST00000538529.1_Missense_Mutation_p.H118Y|ZBTB49_ENST00000355834.3_Missense_Mutation_p.H513Y NM_145291.3 NP_660334.3 Q6ZSB9 ZBT49_HUMAN zinc finger and BTB domain containing 49 635 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 28 ACTCCCTGTCCACCCAGTGGA 0.512000 13 31 0 0 0.001368 0 0 LTBP1 4052 broad.mit.edu 37 2 33518321 33518321 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:33518321C>T ENST00000404816.2 + 20 3560 c.3207C>T c.(3205-3207)acC>acT p.T1069T LTBP1_ENST00000404525.1_Silent_p.T690T|LTBP1_ENST00000407925.1_Silent_p.T743T|LTBP1_ENST00000390003.4_Silent_p.T744T|LTBP1_ENST00000272273.5_Silent_p.T9T|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000354476.3_Silent_p.T1070T|LTBP1_ENST00000418533.2_Silent_p.T743T|LTBP1_ENST00000402934.1_Silent_p.T690T Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1069 EGF-like 8; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) AAGGCTATACCCGGACTCCGG 0.418000 7 30 0 0 0.006214 0 0 SLC16A14 151473 broad.mit.edu 37 2 230914547 230914547 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:230914547G>A ENST00000295190.4 - 3 791 c.333C>T c.(331-333)tcC>tcT p.S111S NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 111 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) CCCAGCCCAGGGAGTTGACGA 0.488000 30 65 0 0 0.003271 0 0 VPRBP 9730 broad.mit.edu 37 3 51440680 51440680 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:51440680G>A ENST00000335891.5 - 16 3024 c.3015C>T c.(3013-3015)ttC>ttT p.F1005F Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 1454 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) CAGAGGGAGAGAAGTCATTGT 0.537000 9 17 0 0 0.004482 0 0 CDH10 1008 broad.mit.edu 37 5 24537654 24537654 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr5:24537654C>T ENST00000264463.4 - 3 868 c.361G>A c.(361-363)Gaa>Aaa p.E121K NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 121 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AAGGCCTTTTCCTCCCTATCA 0.383000 HNSCC(23;0.051) 30 71 0 0 0.008361 0 0 OR8J1 219477 broad.mit.edu 37 11 56127730 56127730 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:56127730C>T ENST00000303039.3 + 1 40 c.8C>T c.(7-9)cCt>cTt p.P3L NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) GACATGGCTCCTGAAAATTTC 0.433000 20 64 0 0 0.008871 0 0 KIF3A 11127 broad.mit.edu 37 5 132038599 132038599 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr5:132038599C>T ENST00000378746.4 - 11 1762 c.1544G>A c.(1543-1545)cGc>cAc p.R515H KIF3A_ENST00000487055.1_5'UTR|KIF3A_ENST00000378735.1_Missense_Mutation_p.R518H|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.R542H NM_007054.5 NP_008985.3 Q9Y496 KIF3A_HUMAN kinesin family member 3A 515 blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding p.R515H(1) endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 25 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAGTTCTCTGCGAAGTTGCTC 0.388000 52 151 0 0 0.003610 0 0 DNAH3 55567 broad.mit.edu 37 16 21049241 21049241 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr16:21049241G>A ENST00000261383.3 - 34 4791 c.4792C>T c.(4792-4794)Cac>Tac p.H1598Y DNAH3_ENST00000415178.1_Missense_Mutation_p.H1598Y NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1598 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TAGTCATAGTGATGCTGAGAG 0.542000 10 29 0 0 0.008291 0 0 MGAT5B 146664 broad.mit.edu 37 17 74922712 74922712 + Silent SNP G G A rs144217759 TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr17:74922712G>A ENST00000569840.2 + 10 1765 c.1191G>A c.(1189-1191)acG>acA p.T397T MGAT5B_ENST00000301618.4_Silent_p.T397T|MGAT5B_ENST00000428789.2_Silent_p.T408T NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 397 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCTTCGGGACGGAACCTGCGT 0.622000 11 32 0 0 0.008291 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156632310 156632310 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr4:156632310C>T ENST00000296518.7 + 6 1202 c.993C>T c.(991-993)atC>atT p.I331I GUCY1A3_ENST00000511108.1_Silent_p.I331I|GUCY1A3_ENST00000511507.1_Silent_p.I331I|GUCY1A3_ENST00000455639.2_Silent_p.I331I|GUCY1A3_ENST00000393832.3_Silent_p.I73I|GUCY1A3_ENST00000506455.1_Silent_p.I331I|GUCY1A3_ENST00000513574.1_Silent_p.I331I Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 331 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) CTCCAAAAATCAACCAGACGT 0.398000 19 44 0 0 0.007413 0 0 COL12A1 1303 broad.mit.edu 37 6 75833060 75833060 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr6:75833060G>A ENST00000322507.8 - 43 7241 c.6932C>T c.(6931-6933)cCa>cTa p.P2311L COL12A1_ENST00000483888.2_Missense_Mutation_p.P2311L|COL12A1_ENST00000416123.2_Missense_Mutation_p.P2311L|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1147L NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2311 cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CCGGGCTGGTGGAATGGTGGG 0.428000 4 8 0 0 0.000248 0 0 SPRR3 6707 broad.mit.edu 37 1 152975920 152975920 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:152975920C>T ENST00000331860.3 + 3 574 c.424C>T c.(424-426)Cct>Tct p.P142S SPRR3_ENST00000295367.4_Missense_Mutation_p.P142S|SPRR3_ENST00000542696.1_Missense_Mutation_p.P134S NM_005416.2 NP_005407.1 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 142 14 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CACCAAAGTTCCTGTGCCAGG 0.532000 25 20 0 0 0.002780 0 0 TNFRSF11A 8792 broad.mit.edu 37 18 60015474 60015474 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr18:60015474G>A ENST00000586569.1 + 2 187 c.149G>A c.(148-150)tGt>tAt p.C50Y TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.C50Y NM_003839.2 NP_003830.1 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, member 11a, NFKB activator 50 adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1) 29 Colorectal(73;0.188) TGTAACAAATGTGAACCAGGT 0.463000 23 35 0 0 0.003330 0 0 ANPEP 290 broad.mit.edu 37 15 90347724 90347724 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr15:90347724G>A ENST00000300060.6 - 5 1335 c.1022C>T c.(1021-1023)tCa>tTa p.S341L NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 341 Interaction with HCoV-229E.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) CCACTCACCTGATTTTGGGAG 0.597000 31 74 0 0 0.002445 0 0 TAS2R10 50839 broad.mit.edu 37 12 10977959 10977959 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr12:10977959G>A ENST00000240619.2 - 1 998 c.910C>T c.(910-912)Ctc>Ttc p.L304F NM_023921.1 NP_076410.1 Q9NYW0 T2R10_HUMAN taste receptor, type 2, member 10 304 sensory perception of taste integral to membrane taste receptor activity breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 GTGACTCTGAGATTTTTCCTT 0.418000 14 44 0 0 0.003163 0 0 PCDHB18P 54660 broad.mit.edu 37 5 140616248 140616248 + RNA SNP T T C TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr5:140616248T>C ENST00000526308.1 + 0 2311 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 GGTGTTCCTGTTCGTGGCGGT 0.682000 44 93 0 0 0.003610 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40837275 40837275 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr17:40837275C>T ENST00000264638.4 + 5 769 c.552C>T c.(550-552)tcC>tcT p.S184S CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 184 axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) ATGCCATCTCCTACCGCTTCC 0.652000 19 43 0 0 0.001882 0 0 CEP120 153241 broad.mit.edu 37 5 122714084 122714084 + Missense_Mutation SNP T T A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr5:122714084T>A ENST00000306467.5 - 15 2446 c.2142A>T c.(2140-2142)aaA>aaT p.K714N CEP120_ENST00000328236.5_Missense_Mutation_p.K714N|CEP120_ENST00000306481.6_Missense_Mutation_p.K688N Q8N960 CE120_HUMAN centrosomal protein 120kDa 714 centrosome breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 CAATTAGAGTTTTTTGAAGTT 0.343000 36 82 0 0 0.003271 0 0 OR1A1 8383 broad.mit.edu 37 17 3119691 3119691 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr17:3119691C>T ENST00000304094.1 + 1 777 c.777C>T c.(775-777)ttC>ttT p.F259F NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 GCACGTATTTCCGCCCTTTGA 0.478000 28 93 0 0 0.004656 0 0 TTC29 83894 broad.mit.edu 37 4 147830395 147830395 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr4:147830395C>T ENST00000513335.1 - 6 460 c.261G>A c.(259-261)agG>agA p.R87R TTC29_ENST00000398886.4_Silent_p.R87R|TTC29_ENST00000325106.4_Silent_p.R61R Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 61 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) TGTAGGAGTTCCTATAACTGG 0.413000 3 11 0 0 0.004672 0 0 WDFY3 23001 broad.mit.edu 37 4 85724537 85724537 + Missense_Mutation SNP G G C TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr4:85724537G>C ENST00000322366.6 - 16 2920 c.2513C>G c.(2512-2514)tCt>tGt p.S838C WDFY3_ENST00000295888.4_Missense_Mutation_p.S838C|WDFY3_ENST00000512267.1_5'UTR|WDFY3-AS1_ENST00000510449.1_RNA Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 838 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) ACTCTGCAGAGATGAAGTTGT 0.458000 7 39 0 0 0.001984 0 0 ADAM30 11085 broad.mit.edu 37 1 120437405 120437405 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:120437405G>A ENST00000369400.1 - 1 1713 c.1555C>T c.(1555-1557)Cct>Tct p.P519S NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 519 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) CACTCACTAGGAGCCTCCATG 0.418000 167 424 0 0 0.003610 0 0 TCERG1 10915 broad.mit.edu 37 5 145883447 145883447 + Nonsense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr5:145883447C>T ENST00000296702.5 + 18 2646 c.2608C>T c.(2608-2610)Cga>Tga p.R870* TCERG1_ENST00000394421.2_Nonsense_Mutation_p.R849*|TCERG1_ENST00000509787.1_3'UTR NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 870 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGCAAGCCTTCGAGAACGAGA 0.418000 19 61 0 0 0.001523 0 0 KDM1A 23028 broad.mit.edu 37 1 23384007 23384007 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:23384007C>T ENST00000400181.4 + 8 1125 c.1021C>T c.(1021-1023)Cgc>Tgc p.R341C RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.R341C|KDM1A_ENST00000356634.3_Missense_Mutation_p.R321C NM_001009999.2 NP_001009999.1 O60341 KDM1A_HUMAN lysine (K)-specific demethylase 1A 321 Demethylase activity. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TGCCACATTTCGCAAAGGAAA 0.413000 32 64 0 0 0.004289 0 0 GPR98 84059 broad.mit.edu 37 5 89938699 89938699 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr5:89938699C>T ENST00000405460.2 + 13 2490 c.2394C>T c.(2392-2394)atC>atT p.I798I NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 798 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGCTCCACATCATCCGATCAA 0.398000 38 131 0 0 0.006999 0 0 IGFN1 91156 broad.mit.edu 37 1 201193886 201193886 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:201193886G>A ENST00000335211.4 + 21 10500 c.10370G>A c.(10369-10371)gGc>gAc p.G3457D IGFN1_ENST00000295591.8_Intron NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 ACTAAGGATGGCCTCACCCAG 0.572000 7 46 0 0 0.003080 0 0 FLNC 2318 broad.mit.edu 37 7 128489437 128489437 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr7:128489437G>A ENST00000325888.8 + 30 5265 c.5004G>A c.(5002-5004)gtG>gtA p.V1668V FLNC_ENST00000346177.6_Silent_p.V1668V NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1668 V -> M (in Ref. 3; CAB46442). cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TGATCACGGTGGATGCCAAGG 0.637000 15 48 0 0 0.002450 0 0 WDR91 29062 broad.mit.edu 37 7 134891950 134891950 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr7:134891950G>A ENST00000354475.4 - 4 547 c.516C>T c.(514-516)gtC>gtT p.V172V WDR91_ENST00000344400.5_Silent_p.V172V|WDR91_ENST00000423565.1_Silent_p.V137V NM_014149.3 NP_054868.3 A4D1P6 WDR91_HUMAN WD repeat domain 91 172 breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 40 GGATCACAGGGACTGGTGCAC 0.463000 22 76 0 0 0.002299 0 0 TSFM 10102 broad.mit.edu 37 12 58190272 58190272 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr12:58190272C>T ENST00000454289.3 + 6 1097 c.884C>T c.(883-885)aCc>aTc p.T295I TSFM_ENST00000323833.8_Missense_Mutation_p.T316I|TSFM_ENST00000550559.1_Intron|TSFM_ENST00000350762.5_Missense_Mutation_p.T255I|TSFM_ENST00000548851.1_Intron|TSFM_ENST00000540550.1_3'UTR|TSFM_ENST00000543727.1_Intron NM_005726.5 NP_005717.3 P43897 EFTS_HUMAN Ts translation elongation factor, mitochondrial 295 regulation of transcription elongation, DNA-dependent mitochondrion|nucleus translation elongation factor activity endometrium(1)|kidney(1)|large_intestine(5)|prostate(1) 8 all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) CCCTCCATTACCTTGGGGCAG 0.562000 4 11 0 0 0.000602 0 0 ODF3 113746 broad.mit.edu 37 11 198517 198517 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:198517G>A ENST00000325113.4 + 5 783 c.466G>A c.(466-468)Gcc>Acc p.A156T BET1L_ENST00000410108.1_Intron|ODF3_ENST00000525282.1_Missense_Mutation_p.A156T NM_053280.3 NP_444510.2 Q96PU9 ODF3A_HUMAN outer dense fiber of sperm tails 3 156 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1) 9 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) CGTCGGCAAGGCCTCCCAGCC 0.642000 16 40 0 0 0.003163 0 0 BAG6 7917 broad.mit.edu 37 6 31611729 31611729 + Missense_Mutation SNP G G T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr6:31611729G>T ENST00000404765.2 - 14 1983 c.1694C>A c.(1693-1695)gCc>gAc p.A565D BAG6_ENST00000439687.2_Missense_Mutation_p.A528D|BAG6_ENST00000470875.1_5'UTR|BAG6_ENST00000211379.5_Missense_Mutation_p.A529D|BAG6_ENST00000375964.6_Missense_Mutation_p.A535D|BAG6_ENST00000362049.6_Missense_Mutation_p.A529D|BAG6_ENST00000375976.4_Missense_Mutation_p.A529D P46379 BAG6_HUMAN BCL2-associated athanogene 6 535 4 X 29 AA approximate repeats.|Pro-rich. apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 GGCCAACGAGGCATTGGTACC 0.552000 43 236 1.86633e-21 2.1315e-21 0.003610 1 0 FBXW12 285231 broad.mit.edu 37 3 48415089 48415089 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:48415089G>A ENST00000296438.5 + 4 366 c.180G>A c.(178-180)ctG>ctA p.L60L FBXW12_ENST00000445170.1_Silent_p.L41L|FBXW12_ENST00000415155.1_Silent_p.L60L|FBXW12_ENST00000436231.1_Intron NM_207102.2 NP_996985.2 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 60 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ATCAACACCTGGGCACACACA 0.473000 13 62 0 0 0.001855 0 0 MROH7 374977 broad.mit.edu 37 1 55148375 55148375 + Missense_Mutation SNP T T G TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:55148375T>G ENST00000414150.2 + 14 2706 c.2428T>G c.(2428-2430)Tgt>Ggt p.C810G MROH7_ENST00000339553.5_Missense_Mutation_p.C810G|MROH7_ENST00000545244.1_Missense_Mutation_p.C378G|MROH7_ENST00000454855.2_Missense_Mutation_p.C328G|MROH7_ENST00000421030.2_Missense_Mutation_p.C810G|MROH7_ENST00000409996.1_Missense_Mutation_p.C378G|MROH7_ENST00000395690.2_Missense_Mutation_p.C810G maestro heat-like repeat family member 7 TAAGCCCAGCTGTGATGTCCG 0.612000 20 55 0 0 0.007413 0 0 FUT9 10690 broad.mit.edu 37 6 96651676 96651676 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr6:96651676C>T ENST00000302103.5 + 3 971 c.645C>T c.(643-645)atC>atT p.I215I NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 215 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) GCATTGAAATCCATACCTACG 0.373000 14 19 0 0 0.002450 0 0 AHDC1 27245 broad.mit.edu 37 1 27875201 27875201 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:27875201G>A ENST00000374011.2 - 6 4394 c.3426C>T c.(3424-3426)atC>atT p.I1142I AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Silent_p.I1142I NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1142 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) AGATGTCCAGGATCACGTTGG 0.572000 18 68 0 0 0.001523 0 0 ABCC6 368 broad.mit.edu 37 16 16276350 16276350 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr16:16276350C>T ENST00000205557.7 - 17 2195 c.2166G>A c.(2164-2166)ctG>ctA p.L722L ABCC6_ENST00000574094.1_Intron NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 722 ABC transporter 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) GTACTCTCTCCAGCCAGGGTG 0.587000 23 27 0 0 0.002299 0 0 ABCD4 5826 broad.mit.edu 37 14 74764666 74764666 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr14:74764666G>A ENST00000356924.4 - 4 535 c.392C>T c.(391-393)aCc>aTc p.T131I ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000557588.1_Missense_Mutation_p.T131I|ABCD4_ENST00000298816.7_Missense_Mutation_p.T44I NM_005050.3 NP_005041.1 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D (ALD), member 4 131 ABC transmembrane type-1. ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00153) CACGTTGAGGGTGTAGTACGC 0.567000 21 52 0 0 0.001882 0 0 ALG9 79796 broad.mit.edu 37 11 111707007 111707007 + Nonsense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:111707007G>A ENST00000398006.2 - 13 1857 c.949C>T c.(949-951)Cag>Tag p.Q317* ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000531154.1_Nonsense_Mutation_p.Q324*|ALG9_ENST00000524880.1_3'UTR NM_001077690.1|NM_001077691.1|NM_001077692.1 NP_001071158.1|NP_001071159.1|NP_001071160.1 Q9H6U8 ALG9_HUMAN ALG9, alpha-1,2-mannosyltransferase 488 dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587) GGAATGAACTGAAGCTGCCAA 0.418000 13 28 0 0 0.001855 0 0 ANGEL1 23357 broad.mit.edu 37 14 77269744 77269744 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr14:77269744G>A ENST00000251089.2 - 7 1700 c.1588C>T c.(1588-1590)Ctt>Ttt p.L530F ANGEL1_ENST00000557179.1_Missense_Mutation_p.L95F NM_015305.3 NP_056120.2 Q9UNK9 ANGE1_HUMAN angel homolog 1 (Drosophila) 530 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) CCTTCCATAAGGACCAGTCCT 0.473000 8 53 0 0 0.006214 0 0 TLR6 10333 broad.mit.edu 37 4 38828821 38828821 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr4:38828821C>T ENST00000436693.2 - 2 2393 c.2274G>A c.(2272-2274)cgG>cgA p.R758R TLR6_ENST00000381950.1_Silent_p.R758R NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 758 TIR. activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GCAAATAAGTCCGCTGCGTCA 0.428000 33 100 0 0 0.003755 0 0 PTPN14 5784 broad.mit.edu 37 1 214556992 214556992 + Nonsense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:214556992G>A ENST00000366956.5 - 13 2400 c.2206C>T c.(2206-2208)Cag>Tag p.Q736* PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 736 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GCCTGCAGCTGGGCACTGTAC 0.632000 12 91 0 0 0.001368 0 0 MYH2 4620 broad.mit.edu 37 17 10427143 10427143 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr17:10427143C>T ENST00000245503.5 - 36 5618 c.5234G>A c.(5233-5235)gGa>gAa p.G1745E CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.G1745E NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1745 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CTCCATCTCTCCTTGCATTTG 0.433000 13 61 0 0 0.001855 0 0 MAP1LC3C 440738 broad.mit.edu 37 1 242159558 242159558 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:242159558C>T ENST00000357246.3 - 4 415 c.351G>A c.(349-351)atG>atA p.M117I NM_001004343.2 NP_001004343.1 Q9BXW4 MLP3C_HUMAN microtubule-associated protein 1 light chain 3 gamma 117 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(106;0.0188) AGGCGTAGGTCATGTACACGA 0.552000 29 131 0 0 0.002096 0 0 CILP2 148113 broad.mit.edu 37 19 19655800 19655800 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr19:19655800G>A ENST00000586018.1 + 8 2566 c.2464G>A c.(2464-2466)Gag>Aag p.E822K CILP2_ENST00000291495.4_Missense_Mutation_p.E816K Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 816 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 CCTGGGCGGCGAGGAGCTGGA 0.746000 11 10 0 0 0.008291 0 0 USP17L2 377630 broad.mit.edu 37 8 11996046 11996046 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr8:11996046G>A ENST00000333796.3 - 1 540 c.224C>T c.(223-225)cCt>cTt p.P75L FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 75 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 CACCGCAGCAGGTCTCCTGCT 0.572000 18 255 0 0 0.002299 0 0 SP140 11262 broad.mit.edu 37 2 231155263 231155263 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:231155263G>A ENST00000392045.3 + 19 1923 c.1809G>A c.(1807-1809)aaG>aaA p.K603K SP140_ENST00000486687.2_Silent_p.K527K|SP140_ENST00000420434.3_Silent_p.K576K|SP140_ENST00000350136.5_Silent_p.K472K|SP140_ENST00000417495.3_Silent_p.K489K|SP140_ENST00000343805.6_Silent_p.K543K NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 603 SAND. defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TTTTACATAAGAAGAAATTGC 0.408000 20 46 0 0 0.001882 0 0 HMCES 56941 broad.mit.edu 37 3 129007776 129007776 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:129007776C>T ENST00000383463.4 + 3 352 c.263C>T c.(262-264)tCc>tTc p.S88F C3orf37_ENST00000389735.3_Missense_Mutation_p.S88F|C3orf37_ENST00000417226.2_Missense_Mutation_p.S88F|C3orf37_ENST00000502878.2_Missense_Mutation_p.S88F NM_020187.2 NP_064572.2 Q96FZ2 CC037_HUMAN 88 breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4) 14 AGTGATCCTTCCAAGCTGCAG 0.488000 20 67 0 0 0.001882 0 0 PCDH15 65217 broad.mit.edu 37 10 55626419 55626419 + Missense_Mutation SNP C C T rs143149062 TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr10:55626419C>T ENST00000373965.2 - 28 4115 c.3721G>A c.(3721-3723)Ggc>Agc p.G1241S PCDH15_ENST00000437009.1_Missense_Mutation_p.G1163S|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1234S|PCDH15_ENST00000409834.1_Missense_Mutation_p.G845S|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1239S|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1212S|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1197S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1234S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1241S|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1234S|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1234S|PCDH15_ENST00000395446.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1234 Cadherin 11. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TCGGCTTTGCCGCTCAGTCCC 0.408000 HNSCC(58;0.16) 14 20 0 0 0.003163 0 0 NCKAP5 344148 broad.mit.edu 37 2 133489532 133489532 + Nonsense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:133489532G>A ENST00000409261.1 - 17 5594 c.5221C>T c.(5221-5223)Cag>Tag p.Q1741* NCKAP5_ENST00000409213.1_Nonsense_Mutation_p.Q422*|NCKAP5_ENST00000405974.3_Nonsense_Mutation_p.Q422*|NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.Q1741* NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1741 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GAGTCTGGCTGGCATAGGTAG 0.552000 25 37 0 0 0.003330 0 0 SLC44A5 204962 broad.mit.edu 37 1 75685026 75685026 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:75685026G>A ENST00000370855.5 - 16 1295 c.1182C>T c.(1180-1182)ttC>ttT p.F394F SLC44A5_ENST00000370859.3_Silent_p.F394F|SLC44A5_ENST00000535611.1_Silent_p.F264F NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 394 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 ATGTCGCCAAGAAACTGAATA 0.383000 11 29 0 0 0.008291 0 0 UNC13C 440279 broad.mit.edu 37 15 54919039 54919039 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr15:54919039G>A ENST00000545554.1 + 32 6373 c.6373G>A c.(6373-6375)Gaa>Aaa p.E2125K UNC13C_ENST00000539562.2_Missense_Mutation_p.E46K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E2123K|UNC13C_ENST00000260323.11_Missense_Mutation_p.E2125K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 2125 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TCTCGGAAAGGAAAATCGACC 0.378000 13 41 0 0 0.002450 0 0 FSHR 2492 broad.mit.edu 37 2 49190690 49190690 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:49190690G>A ENST00000406846.2 - 10 1389 c.1270C>T c.(1270-1272)Cat>Tat p.H424Y FSHR_ENST00000346173.3_Missense_Mutation_p.H362Y|FSHR_ENST00000541117.1_Missense_Mutation_p.H160Y|FSHR_ENST00000304421.4_Missense_Mutation_p.H398Y NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 424 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) CTCTTGGTATGGATATCAACT 0.478000 Gonadal Dysgenesis, 46 XX 11 52 0 0 0.000978 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508103 37508103 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr10:37508103G>A ENST00000374660.1 + 40 3751 c.3652G>A c.(3652-3654)Gaa>Aaa p.E1218K ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1099K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1099K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1170 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ACTGAAAGAGGAATCATTAAC 0.338000 52 103 0 0 0.003610 0 0 FER1L6 654463 broad.mit.edu 37 8 125058037 125058037 + Nonsense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr8:125058037G>A ENST00000522917.1 + 21 2825 c.2619G>A c.(2617-2619)tgG>tgA p.W873* FER1L6_ENST00000399018.1_Nonsense_Mutation_p.W873* NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 873 C2 3. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CTCCGACCTGGAACCAGATGC 0.502000 65 234 0 0 0.003610 0 0 IRAK2 3656 broad.mit.edu 37 3 10254984 10254984 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:10254984G>A ENST00000256458.4 + 5 712 c.622G>A c.(622-624)Gat>Aat p.D208N NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 208 activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|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 cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 CCAGGCAACCGATGACTTCAA 0.522000 19 56 0 0 0.006122 0 0 CREB3 10488 broad.mit.edu 37 9 35733137 35733137 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr9:35733137C>T ENST00000353704.2 + 2 712 c.274C>T c.(274-276)Cta>Tta p.L92L CREB3_ENST00000486056.1_3'UTR NM_006368.4 NP_006359.3 O43889 CREB3_HUMAN cAMP responsive element binding protein 3 92 Transcription activation (acidic). chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1) 9 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GBM - Glioblastoma multiforme(74;0.0285) CTCTATGGATCTAGGTGAGTC 0.532000 19 17 0 0 0.006122 0 0 CRHR2 1395 broad.mit.edu 37 7 30695560 30695560 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr7:30695560G>A ENST00000471646.1 - 9 1317 c.900C>T c.(898-900)tcC>tcT p.S300S CRHR2_ENST00000348438.4_Silent_p.S327S|CRHR2_ENST00000341843.4_Silent_p.S286S|CRHR2_ENST00000506074.2_Silent_p.S300S NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 300 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GGATTGTCTCGGATGTGGTGG 0.562000 79 91 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179576846 179576846 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:179576846G>A ENST00000589042.1 - 96 27935 c.27711C>T c.(27709-27711)tcC>tcT p.S9237S TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.S7993S|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.S8920S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8920 Ig-like 75. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTTATACCAGGATACCCCAA 0.423000 23 58 0 0 0.002299 0 0 MARS 4141 broad.mit.edu 37 12 57906613 57906613 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr12:57906613G>A ENST00000262027.5 + 15 1967 c.1833G>A c.(1831-1833)ggG>ggA p.G611G MARS_ENST00000315473.5_Silent_p.G377G NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 611 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 33 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) AGGACACGGGGATCCCTGCTG 0.547000 40 118 0 0 0.006999 0 0 RP1 6101 broad.mit.edu 37 8 55538757 55538757 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr8:55538757G>A ENST00000220676.1 + 4 2463 c.2315G>A c.(2314-2316)gGa>gAa p.G772E NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 772 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AAGGTTCAAGGACTTTTAACC 0.294000 19 43 0 0 0.007413 0 0 CSMD2 114784 broad.mit.edu 37 1 34285417 34285417 + Silent SNP G G A rs146766790 TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:34285417G>A ENST00000373381.4 - 9 1397 c.1221C>T c.(1219-1221)ttC>ttT p.F407F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 367 CUB 3. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CGTTGCAGGTGAACTGGACGC 0.592000 13 33 0 0 0.002450 0 0 CLPB 81570 broad.mit.edu 37 11 72145245 72145245 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:72145245G>A ENST00000294053.3 - 1 447 c.274C>T c.(274-276)Cct>Tct p.P92S CLPB_ENST00000437826.2_Missense_Mutation_p.S11F|CLPB_ENST00000538039.1_Missense_Mutation_p.P92S|CLPB_ENST00000340729.5_Missense_Mutation_p.P92S|CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000445069.2_Intron NM_001258394.1|NM_030813.4 NP_001245323.1|NP_110440.1 Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) 92 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 TCGGGACCAGGAAGGCGTCCC 0.687000 OREG0021194 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 90 200 0 0 0.003610 0 0 EDN3 1908 broad.mit.edu 37 20 57896107 57896107 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr20:57896107G>A ENST00000311585.7 + 3 771 c.401G>A c.(400-402)gGa>gAa p.G134E EDN3_ENST00000371028.2_Missense_Mutation_p.G134E|EDN3_ENST00000337938.2_Missense_Mutation_p.G134E|EDN3_ENST00000371025.3_Missense_Mutation_p.G134E|EDN3_ENST00000395654.3_Missense_Mutation_p.G134E NM_207032.1 NP_996915.1 P14138 EDN3_HUMAN endothelin 3 134 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) AACTACAGAGGAAGCTTCCGG 0.602000 20 54 0 0 0.008871 0 0 NID2 22795 broad.mit.edu 37 14 52526933 52526933 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr14:52526933C>T ENST00000216286.5 - 3 675 c.676G>A c.(676-678)Ggc>Agc p.G226S NID2_ENST00000541773.1_Missense_Mutation_p.G173S NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 226 NIDO. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CGGCAGAAGCCCACCCGAGCT 0.502000 12 43 0 0 0.001368 0 0 MUC16 94025 broad.mit.edu 37 19 9085586 9085586 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr19:9085586G>A ENST00000397910.4 - 1 6432 c.6229C>T c.(6229-6231)Cat>Tat p.H2077Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2077 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACCCCAGAATGGCCTGAGGAC 0.468000 60 119 0 0 0.003610 0 0 KIF21B 23046 broad.mit.edu 37 1 200960261 200960261 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:200960261C>T ENST00000332129.2 - 18 2787 c.2471G>A c.(2470-2472)cGc>cAc p.R824H KIF21B_ENST00000360529.5_Missense_Mutation_p.R824H|KIF21B_ENST00000422435.2_Missense_Mutation_p.R824H|KIF21B_ENST00000461742.2_Missense_Mutation_p.R824H NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 824 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CTTGGCCAGGCGCCTCAGTGC 0.657000 12 49 0 0 0.000978 0 0 NIPAL2 79815 broad.mit.edu 37 8 99208211 99208211 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr8:99208211G>A ENST00000341166.3 - 9 1158 c.903C>T c.(901-903)ttC>ttT p.F301F NIPAL2_ENST00000430223.2_Silent_p.F301F|NIPAL2_ENST00000520545.1_5'UTR NM_024759.1 NP_079035.1 Q9H841 NPAL2_HUMAN NIPA-like domain containing 2 301 integral to membrane cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1) 12 GAGCACCAAGGAATTCCTGAT 0.284000 8 48 0 0 0.004482 0 0 FLG 2312 broad.mit.edu 37 1 152282095 152282095 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:152282095C>T ENST00000368799.1 - 3 5302 c.5267G>A c.(5266-5268)gGg>gAg p.G1756E FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1756 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGACCTTTCCCCTGACTGGCC 0.597000 Ichthyosis 191 188 0 0 0.003610 0 0 THBS2 7058 broad.mit.edu 37 6 169628377 169628377 + Splice_Site SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr6:169628377C>T ENST00000366787.3 - 16 2509 c.e16-1 XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GGCAGTTGTCCTGGAAAACCA 0.488000 8 22 0 0 0.004482 0 0 APOB 338 broad.mit.edu 37 2 21230262 21230262 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:21230262C>T ENST00000233242.1 - 26 9605 c.9478G>A c.(9478-9480)Gaa>Aaa p.E3160K NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3160 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTCAAGAATTCCTTCAAGCCT 0.358000 135 405 0 0 0.003610 0 0 MED23 9439 broad.mit.edu 37 6 131948547 131948547 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr6:131948547C>T ENST00000403834.3 - 3 321 c.148G>A c.(148-150)Ggt>Agt p.G50S MED23_ENST00000368058.1_Missense_Mutation_p.G50S|MED23_ENST00000368053.4_Missense_Mutation_p.G50S|MED23_ENST00000354577.4_Missense_Mutation_p.G50S|MED23_ENST00000368068.3_Missense_Mutation_p.G50S|MED23_ENST00000368060.3_Missense_Mutation_p.G50S|MED23_ENST00000540546.1_Missense_Mutation_p.G50S|MED23_ENST00000539158.1_Missense_Mutation_p.G50S Q9ULK4 MED23_HUMAN mediator complex subunit 23 50 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) TGAGAAAGACCACCCCAAAAC 0.318000 32 56 0 0 0.004878 0 0 OR7C2 26658 broad.mit.edu 37 19 15053193 15053193 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr19:15053193G>A ENST00000248072.3 + 1 893 c.893G>A c.(892-894)gGg>gAg p.G298E NM_012377.1 NP_036509.1 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, member 2 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) GACATGAAGGGGTCACTGGGG 0.542000 18 71 0 0 0.004990 0 0 TET1 80312 broad.mit.edu 37 10 70332292 70332292 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr10:70332292C>T ENST00000373644.4 + 2 406 c.197C>T c.(196-198)cCa>cTa p.P66L NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 66 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 GAACCTAAACCACCCGTGCCA 0.428000 33 36 0 0 0.003271 0 0 TACC1 6867 broad.mit.edu 37 8 38699874 38699874 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr8:38699874C>T ENST00000379931.3 + 11 2445 c.2066C>T c.(2065-2067)gCc>gTc p.A689V TACC1_ENST00000520973.1_Missense_Mutation_p.A453V|TACC1_ENST00000330691.6_Missense_Mutation_p.A251V|TACC1_ENST00000443286.2_Missense_Mutation_p.A664V|TACC1_ENST00000348567.4_Missense_Mutation_p.A239V|TACC1_ENST00000520615.1_Missense_Mutation_p.A482V|TACC1_ENST00000518415.1_Missense_Mutation_p.A603V|TACC1_ENST00000520611.1_Missense_Mutation_p.A114V|TACC1_ENST00000317827.4_Missense_Mutation_p.A677V|TACC1_ENST00000276520.8_Missense_Mutation_p.A267V|TACC1_ENST00000519416.1_Missense_Mutation_p.A481V O75410 TACC1_HUMAN transforming, acidic coiled-coil containing protein 1 677 cell cycle|cell division intermediate filament cytoskeleton|microtubule organizing center|nucleus protein binding breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3) 17 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065) LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235) AAGGAACAGGCCCTGGCTGAC 0.458000 25 142 0 0 0.002780 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 32 52 0 0 0.003271 0 0 C17orf74 201243 broad.mit.edu 37 17 7329686 7329686 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr17:7329686C>T ENST00000333870.3 + 3 450 c.376C>T c.(376-378)Cgc>Tgc p.R126C RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Intron NM_175734.4 NP_783861.3 Q0P670 CQ074_HUMAN chromosome 17 open reading frame 74 126 Arg-rich. integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) CTGTGTTcgtcgccgccgccg 0.612000 27 63 0 0 0.006320 0 0 MAD2L2 10459 broad.mit.edu 37 1 11736105 11736105 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:11736105G>A ENST00000235310.3 - 8 1353 c.425C>T c.(424-426)cCa>cTa p.P142L MAD2L2_ENST00000376667.3_Missense_Mutation_p.P142L|MAD2L2_ENST00000376692.4_Missense_Mutation_p.P142L|MAD2L2_ENST00000376669.5_Missense_Mutation_p.P155L|MAD2L2_ENST00000376672.1_Missense_Mutation_p.P155L Q9UI95 MD2L2_HUMAN MAD2 mitotic arrest deficient-like 2 (yeast) 142 HORMA.|Mediates interaction with REV1 and REV3L and homodimerization. cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex JUN kinase binding kidney(1)|large_intestine(1)|lung(2)|ovary(1) 5 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGACACACCTGGGGGGTTGTG 0.572000 DNA polymerases (catalytic subunits) 13 40 0 0 0.004007 0 0 IYD 389434 broad.mit.edu 37 6 150719294 150719294 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr6:150719294C>T ENST00000344419.3 + 5 931 c.791C>T c.(790-792)cCc>cTc p.P264L IYD_ENST00000229447.5_3'UTR NM_203395.2 NP_981932.1 Q6PHW0 IYD1_HUMAN iodotyrosine deiodinase 264 cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) ATGCTGCTCCCCGTGGGGTAC 0.632000 24 30 0 0 0.003330 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431950 140431950 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr5:140431950G>A ENST00000306549.3 + 1 972 c.895G>A c.(895-897)Gga>Aga p.G299R NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 299 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTCAAAATGGAGAAGTTCG 0.468000 21 54 0 0 0.008871 0 0 KRT26 353288 broad.mit.edu 37 17 38928356 38928356 + Nonsense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr17:38928356G>A ENST00000335552.4 - 1 58 c.10C>T c.(10-12)Cga>Tga p.R4* NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 4 Head. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) CCAGAAAGTCGAAAAGACATG 0.557000 30 54 0 0 0.002096 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795398 142795398 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chrX:142795398C>T ENST00000370498.1 - 2 1033 c.280G>A c.(280-282)Gga>Aga p.G94R NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 94 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TGTGAAGATCCTTCAGCTGAG 0.498000 144 115 0 0 0.003610 0 0 CLP1 10978 broad.mit.edu 37 11 57428556 57428556 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:57428556G>A ENST00000533682.1 + 3 1651 c.926G>A c.(925-927)cGa>cAa p.R309Q CLP1_ENST00000525602.1_Missense_Mutation_p.R309Q|CLP1_ENST00000302731.4_Missense_Mutation_p.R245Q|CLP1_ENST00000529430.1_Missense_Mutation_p.R320Q Q92989 CLP1_HUMAN cleavage and polyadenylation factor I subunit 1 309 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation nucleoplasm|tRNA-intron endonuclease complex ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1) 15 TATGGATTCCGAGGCTGTTTC 0.502000 34 134 0 0 0.002445 0 0 NUP160 23279 broad.mit.edu 37 11 47819553 47819553 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:47819553G>A ENST00000378460.2 - 26 3206 c.3160C>T c.(3160-3162)Ccc>Tcc p.P1054S NUP160_ENST00000530326.1_Missense_Mutation_p.P940S|NUP160_ENST00000528071.1_Missense_Mutation_p.P940S NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 1054 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 TTCACATAGGGAAACTCTACA 0.398000 21 43 0 0 0.002299 0 0 RBFOX1 54715 broad.mit.edu 37 16 7629799 7629799 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr16:7629799G>A ENST00000340209.4 + 3 603 c.306G>A c.(304-306)ccG>ccA p.P102P RBFOX1_ENST00000553186.1_Silent_p.P97P|RBFOX1_ENST00000550418.1_Silent_p.P97P|RBFOX1_ENST00000547372.1_Silent_p.P140P|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000311745.5_Silent_p.P117P|RBFOX1_ENST00000552089.1_Silent_p.P132P|RBFOX1_ENST00000436368.2_Silent_p.P117P|RBFOX1_ENST00000422070.4_Silent_p.P140P|RBFOX1_ENST00000355637.4_Silent_p.P117P|RBFOX1_ENST00000547338.1_Silent_p.P97P Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 97 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 ACGCAGCACCGACGGATGGCC 0.522000 14 48 0 0 0.003163 0 0 MUC6 4588 broad.mit.edu 37 11 1025023 1025023 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:1025023G>A ENST00000421673.2 - 24 3096 c.3046C>T c.(3046-3048)Cgc>Tgc p.R1016C NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1016 VWFD 3. 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) TACCTGCTGCGCGTCTCGAAG 0.642000 13 16 0 0 0.001855 0 0 WDR24 84219 broad.mit.edu 37 16 737699 737699 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr16:737699C>T ENST00000293883.4 - 2 1281 c.522G>A c.(520-522)cgG>cgA p.R174R WDR24_ENST00000248142.6_Silent_p.R304R NM_032259.2 NP_115635.1 Q96S15 WDR24_HUMAN WD repeat domain 24 236 breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3) 19 Hepatocellular(780;0.0218) TGAAGTAGTCCCGGATACTGA 0.637000 10 21 0 0 0.006214 0 0 AHDC1 27245 broad.mit.edu 37 1 27875200 27875200 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:27875200G>A ENST00000374011.2 - 6 4395 c.3427C>T c.(3427-3429)Ctg>Ttg p.L1143L AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Silent_p.L1143L NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1143 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GAGATGTCCAGGATCACGTTG 0.572000 18 67 0 0 0.001523 0 0 VPS39 23339 broad.mit.edu 37 15 42483350 42483350 + Nonsense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr15:42483350G>A ENST00000318006.5 - 4 382 c.220C>T c.(220-222)Cag>Tag p.Q74* VPS39_ENST00000348544.4_Nonsense_Mutation_p.Q85* NM_015289.2 NP_056104.2 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 homolog (S. cerevisiae) 85 CNH. protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) ATCTTAAACTGGGAAACCACA 0.343000 26 47 0 0 0.008361 0 0 DZIP1L 199221 broad.mit.edu 37 3 137787113 137787113 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:137787113G>A ENST00000327532.2 - 13 2074 c.1712C>T c.(1711-1713)cCa>cTa p.P571L NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like 571 intracellular zinc ion binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 ACGAGTTGGTGGGGGTGGCTC 0.667000 194 542 0 0 0.003610 0 0 COL7A1 1294 broad.mit.edu 37 3 48610351 48610351 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:48610351G>A ENST00000328333.8 - 86 6882 c.6775C>T c.(6775-6777)Cca>Tca p.P2259S COL7A1_ENST00000454817.1_Missense_Mutation_p.P2227S NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2259 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TCTCGACCTGGGGCTCCCGGC 0.637000 21 47 0 0 0.008871 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52891101 52891101 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:52891101G>A ENST00000371544.3 - 29 5049 c.4787C>T c.(4786-4788)tCg>tTg p.S1596L ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S1597L NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 1596 Pro-rich. miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 ATAAGGCCACGAAGCTGGGAC 0.488000 17 54 0 0 0.004007 0 0 FDPS 2224 broad.mit.edu 37 1 155290374 155290374 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:155290374C>T ENST00000356657.6 + 11 1396 c.1234C>T c.(1234-1236)Cgc>Tgc p.R412C FDPS_ENST00000447866.1_Missense_Mutation_p.R346C|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|FDPS_ENST00000368356.4_Missense_Mutation_p.R412C|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA NM_001135821.1 NP_001129293.1 P14324 FPPS_HUMAN farnesyl diphosphate synthase 412 cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process cytosol|nucleus dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399) GGGGCTTGCGCGCAAAATCTA 0.498000 39 28 0 0 0.002222 0 0 OR5B21 219968 broad.mit.edu 37 11 58274946 58274946 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:58274946G>A ENST00000360374.2 - 1 632 c.633C>T c.(631-633)atC>atT p.I211I NM_001005218.1 NP_001005218.1 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, member 21 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I211I(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Esophageal squamous(5;0.0027) Breast(21;0.0778) AAGAAATAAGGATGACCAGGA 0.488000 9 30 0 0 0.006214 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134471739 134471739 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr9:134471739G>A ENST00000372195.1 - 14 2371 c.2128C>T c.(2128-2130)Cgc>Tgc p.R710C RAPGEF1_ENST00000372189.3_Missense_Mutation_p.R693C|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.R711C Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 693 N-terminal Ras-GEF. activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) GATCCTCCGCGGACGTCCGGC 0.547000 6 9 0 0 0.006214 0 0 KIF2B 84643 broad.mit.edu 37 17 51900577 51900577 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr17:51900577G>A ENST00000268919.4 + 1 339 c.183G>A c.(181-183)gtG>gtA p.V61V NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 61 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TAGAGTGGGTGGAGAAAGCAG 0.557000 36 79 0 0 0.004289 0 0 NAGLU 4669 broad.mit.edu 37 17 40695514 40695514 + Missense_Mutation SNP T T A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr17:40695514T>A ENST00000225927.2 + 6 1591 c.1490T>A c.(1489-1491)cTg>cAg p.L497Q RP11-400F19.8_ENST00000585572.1_RNA NM_000263.3 NP_000254.2 P54802 ANAG_HUMAN N-acetylglucosaminidase, alpha 497 lysosome alpha-N-acetylglucosaminidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 12 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) TGGAGGCTACTGCTCCGGAGT 0.657000 3 13 0 0 0.000248 0 0 IFT172 26160 broad.mit.edu 37 2 27706224 27706224 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:27706224G>A ENST00000260570.3 - 7 605 c.502C>T c.(502-504)Ctc>Ttc p.L168F IFT172_ENST00000416524.2_Missense_Mutation_p.L147F|IFT172_ENST00000359466.6_Missense_Mutation_p.L168F NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 168 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) TGACCAGAGAGAATTCCTTTC 0.418000 16 56 0 0 0.006122 0 0 IGSF10 285313 broad.mit.edu 37 3 151165605 151165605 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:151165605G>A ENST00000282466.3 - 4 2163 c.2164C>T c.(2164-2166)Cgg>Tgg p.R722W NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 722 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GTTAATTCCCGATAGTTGTGC 0.493000 17 51 0 0 0.004990 0 0 PMCH 5367 broad.mit.edu 37 12 102591416 102591416 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr12:102591416C>T ENST00000329406.4 - 1 207 c.133G>A c.(133-135)Ggg>Agg p.G45R NM_002674.2 NP_002665.2 P20382 MCH_HUMAN pro-melanin-concentrating hormone 45 cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission melanin-concentrating hormone activity large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 6 AAGCCTTTCCCCAACCTGAAT 0.348000 11 35 0 0 0.008291 0 0 EXPH5 23086 broad.mit.edu 37 11 108382300 108382300 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:108382300C>T ENST00000265843.4 - 6 4044 c.3934G>A c.(3934-3936)Gaa>Aaa p.E1312K EXPH5_ENST00000443411.1_Missense_Mutation_p.E1124K|EXPH5_ENST00000525344.1_Missense_Mutation_p.E1305K|EXPH5_ENST00000428840.1_Missense_Mutation_p.E1236K NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1312 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTTAGATTTTCACATGAAGGT 0.413000 20 37 0 0 0.001523 0 0 SLC10A7 84068 broad.mit.edu 37 4 147204418 147204418 + Splice_Site SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr4:147204418C>T ENST00000432059.2 - 9 981 c.e9-1 SLC10A7_ENST00000335472.7_Splice_Site|SLC10A7_ENST00000394062.3_Splice_Site|SLC10A7_ENST00000264986.3_Splice_Site|SLC10A7_ENST00000507030.1_Splice_Site Q0GE19 NTCP7_HUMAN solute carrier family 10, member 7 integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1) 16 all_hematologic(180;0.151) CGAATTATTCCTAGGGGCAAA 0.343000 12 32 0 0 0.001368 0 0 EPHB2 2048 broad.mit.edu 37 1 23111292 23111292 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:23111292C>T ENST00000400191.3 + 3 552 c.534C>T c.(532-534)ttC>ttT p.F178F EPHB2_ENST00000374632.3_Silent_p.F178F|EPHB2_ENST00000374627.1_Silent_p.F172F|EPHB2_ENST00000374630.3_Silent_p.F178F|EPHB2_ENST00000544305.1_Silent_p.F178F NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 178 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) ACCTGGCCTTCCAGGACTATG 0.612000 7 28 0 0 0.001984 0 0 C16orf11 146325 broad.mit.edu 37 16 615119 615119 + Nonsense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr16:615119C>T ENST00000409413.3 + 3 1807 c.1528C>T c.(1528-1530)Caa>Taa p.Q510* NM_145270.2 NP_660313.1 P0CG20 CP011_HUMAN chromosome 16 open reading frame 11 510 central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 TGCAGCGCCCCAACCCTTCTC 0.721000 11 20 0 0 0.001855 0 0 VTI1A 143187 broad.mit.edu 37 10 114575103 114575103 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr10:114575103C>T ENST00000393077.2 + 8 731 c.615C>T c.(613-615)acC>acT p.T205T NM_145206.2 NP_660207.2 Q96AJ9 VTI1A_HUMAN vesicle transport through interaction with t-SNAREs 1A 0 intracellular protein transport|retrograde transport, endosome to Golgi SNARE complex protein transporter activity|SNAP receptor activity VTI1A/TCF7L2(8) breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 Colorectal(252;0.0314)|Breast(234;0.183) Epithelial(162;0.0126)|all cancers(201;0.0487) TGGTCATCACCATCCTGATGG 0.438000 T TCF7L2 colorectal 28 41 0 0 0.002445 0 0 COL7A1 1294 broad.mit.edu 37 3 48610350 48610350 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:48610350G>A ENST00000328333.8 - 86 6883 c.6776C>T c.(6775-6777)cCa>cTa p.P2259L COL7A1_ENST00000454817.1_Missense_Mutation_p.P2227L NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2259 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ATCTCGACCTGGGGCTCCCGG 0.632000 21 45 0 0 0.008871 0 0 CYBB 1536 broad.mit.edu 37 X 37641395 37641395 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chrX:37641395G>A ENST00000378588.4 + 2 167 c.100G>A c.(100-102)Gat>Aat p.D34N CYBB_ENST00000536160.1_5'UTR|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Intron NM_000397.3 NP_000388.2 P04839 CY24B_HUMAN cytochrome b-245, beta polypeptide 34 electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 CCGGGTTTATGATATTCCACC 0.403000 16 25 0 0 0.007413 0 0 NYAP2 57624 broad.mit.edu 37 2 226378250 226378250 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:226378250G>A ENST00000272907.6 + 3 798 c.385G>A c.(385-387)Gat>Aat p.D129N NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 129 GGGCACAGACGATGACAGCAG 0.572000 21 42 0 0 0.002299 0 0 NREP 9315 broad.mit.edu 37 5 111066669 111066669 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr5:111066669C>T ENST00000379671.3 - 5 420 c.156G>A c.(154-156)ctG>ctA p.L52L NREP_ENST00000447165.2_Silent_p.L52L|NREP_ENST00000450761.2_Silent_p.L52L|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000509025.1_Intron|NREP_ENST00000455559.2_Silent_p.L52L|STARD4-AS1_ENST00000513221.1_RNA|NREP_ENST00000453526.2_Silent_p.L52L|NREP_ENST00000257435.7_Silent_p.L52L|NREP_ENST00000508870.1_Silent_p.L52L|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000446294.2_Silent_p.L52L|NREP_ENST00000515855.1_3'UTR|NREP_ENST00000509427.1_Silent_p.L52L|NREP_ENST00000419114.2_Silent_p.L52L|NREP_ENST00000395634.3_Silent_p.L96L|NREP_ENST00000509979.1_3'UTR NM_001142478.1 NP_001135950.1 Q16612 NP311_HUMAN neuronal regeneration related protein 52 cytoplasm CACTGCTGCCCAGTGGAGTCA 0.488000 44 80 0 0 0.008740 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460402 107460402 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:107460402C>T ENST00000409382.3 - 2 642 c.32G>A c.(31-33)cGa>cAa p.R11Q ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R11Q|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R11Q NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 11 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.R11Q(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GAAAAGCATTCGTTGTCTCCA 0.507000 20 49 0 0 0.007413 0 0 PPFIA4 8497 broad.mit.edu 37 1 203040846 203040846 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:203040846C>T ENST00000367240.2 + 27 3815 c.3288C>T c.(3286-3288)ttC>ttT p.F1096F PPFIA4_ENST00000599966.1_Silent_p.F602F|PPFIA4_ENST00000295706.4_Silent_p.F602F|PPFIA4_ENST00000447715.2_Silent_p.F1095F|PPFIA4_ENST00000272198.6_Silent_p.F611F|PPFIA4_ENST00000414050.2_Silent_p.F824F O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 611 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 AAAGAGAGTTCAATAACCTGT 0.498000 12 14 0 0 0.002450 0 0 NASP 4678 broad.mit.edu 37 1 46073706 46073706 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:46073706C>T ENST00000350030.3 + 6 1210 c.1123C>T c.(1123-1125)Cct>Tct p.P375S NASP_ENST00000372052.4_Intron|NASP_ENST00000351223.3_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.P311S|NASP_ENST00000402363.3_Missense_Mutation_p.P377S NM_002482.3 NP_002473.2 P49321 NASP_HUMAN nuclear autoantigenic sperm protein (histone-binding) 375 Glu-rich (acidic). blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 17 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) TCCAGTTCTCCCTAAGGATGG 0.502000 48 149 0 0 0.003610 0 0 ABCA8 10351 broad.mit.edu 37 17 66925340 66925340 + Silent SNP C C T rs143207789 by1000genomes TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr17:66925340C>T ENST00000269080.2 - 8 1112 c.975G>A c.(973-975)aaG>aaA p.K325K ABCA8_ENST00000586539.1_Silent_p.K325K|ABCA8_ENST00000430352.2_Silent_p.K325K NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 325 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.K325N(1) breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) GGAAAGATTTCTTTACCAAGA 0.418000 18 20 0 0 0.001882 0 0 SUV420H1 51111 broad.mit.edu 37 11 67947635 67947635 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:67947635G>A ENST00000304363.4 - 4 694 c.341C>T c.(340-342)tCa>tTa p.S114L SUV420H1_ENST00000405515.1_Missense_Mutation_p.S114L|SUV420H1_ENST00000402789.1_Missense_Mutation_p.S114L|SUV420H1_ENST00000402185.2_Intron|SUV420H1_ENST00000401547.2_Missense_Mutation_p.S114L NM_017635.3 NP_060105.3 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 gtcagattttgaaaaatgcct 0.333000 5 8 0 0 0.001984 0 0 CHRM2 1129 broad.mit.edu 37 7 136700134 136700134 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr7:136700134G>A ENST00000445907.2 + 3 1050 c.522G>A c.(520-522)ggG>ggA p.G174G CHRM2_ENST00000397608.3_Silent_p.G174G|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000401861.1_Silent_p.G174G|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Silent_p.G174G|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Silent_p.G174G|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Silent_p.G174G NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 174 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) TGGAGGATGGGGAGTGCTACA 0.488000 92 101 0 0 0.003610 0 0 ARID2 196528 broad.mit.edu 37 12 46244034 46244034 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr12:46244034C>T ENST00000334344.6 + 15 2300 c.2128C>T c.(2128-2130)Cct>Tct p.P710S ARID2_ENST00000444670.1_Missense_Mutation_p.P320S|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.P561S NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 710 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AGCTCCAATTCCTTGTGAAGT 0.438000 """N, S, F""" hepatocellular carcinoma 49 91 0 0 0.003610 0 0 MET 4233 broad.mit.edu 37 7 116411677 116411677 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr7:116411677C>T ENST00000397752.3 + 13 3056 c.2856C>T c.(2854-2856)ttC>ttT p.F952F MET_ENST00000318493.6_Silent_p.F970F NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 952 axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TTGGGTTTTTCCTGTGGCTGA 0.343000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 24 110 0 0 0.007291 0 0 C1orf27 54953 broad.mit.edu 37 1 186375259 186375259 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:186375259C>T ENST00000367470.3 + 11 1212 c.976C>T c.(976-978)Ccc>Tcc p.P326S C1orf27_ENST00000419367.3_Missense_Mutation_p.P317S|C1orf27_ENST00000287859.6_Missense_Mutation_p.P349S|C1orf27_ENST00000432021.3_Missense_Mutation_p.P326S NM_001164245.1 NP_001157717.1 Q5SWX8 ODR4_HUMAN chromosome 1 open reading frame 27 349 integral to membrane oxidoreductase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 9 AGTCTTTGTTCCCCTTCCTGG 0.373000 74 61 0 0 0.003610 0 0 CNTN1 1272 broad.mit.edu 37 12 41410719 41410719 + Splice_Site SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr12:41410719G>A ENST00000551295.2 + 19 2536 c.e19+1 CNTN1_ENST00000348761.2_Splice_Site|CNTN1_ENST00000347616.1_Splice_Site|CNTN1_ENST00000550305.1_Splice_Site NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GCACAAGACGGTAGGTGAAAG 0.423000 7 33 0 0 0.001984 0 0 SNCAIP 9627 broad.mit.edu 37 5 121786472 121786472 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr5:121786472G>A ENST00000261367.7 + 12 3499 c.2071G>A c.(2071-2073)Gat>Aat p.D691N SNCAIP_ENST00000261368.8_Missense_Mutation_p.D644N|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.D278N|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379536.2_Missense_Mutation_p.D584N|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.D246N|SNCAIP_ENST00000542191.1_Missense_Mutation_p.D202N|SNCAIP_ENST00000379533.2_Missense_Mutation_p.D691N|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 644 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GGAATTCCAGGATGCTCAGGC 0.438000 14 35 0 0 0.003163 0 0 MRC2 9902 broad.mit.edu 37 17 60769493 60769493 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr17:60769493C>T ENST00000303375.5 + 29 4615 c.4213C>T c.(4213-4215)Cca>Tca p.P1405S MRC2_ENST00000446119.2_Missense_Mutation_p.P271S NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 1405 endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 CAGCTTCTCCCCATCAGGTGA 0.547000 20 46 0 0 0.002780 0 0 DEF8 54849 broad.mit.edu 37 16 90030674 90030674 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr16:90030674G>A ENST00000563594.1 + 11 2096 c.1099G>A c.(1099-1101)Gag>Aag p.E367K DEF8_ENST00000268676.7_Missense_Mutation_p.E428K|DEF8_ENST00000570182.1_Missense_Mutation_p.E357K|DEF8_ENST00000569453.1_Missense_Mutation_p.E367K|DEF8_ENST00000567874.1_Missense_Mutation_p.E307K|DEF8_ENST00000563795.1_Missense_Mutation_p.E350K NM_001242818.1|NM_001242819.1 NP_001229747.1|NP_001229748.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) 428 intracellular signal transduction zinc ion binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) CTCGCTCACCGAGATCCACAC 0.642000 10 9 0 0 0.006214 0 0 NREP 9315 broad.mit.edu 37 5 111066668 111066668 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr5:111066668C>T ENST00000379671.3 - 5 421 c.157G>A c.(157-159)Ggc>Agc p.G53S NREP_ENST00000447165.2_Missense_Mutation_p.G53S|NREP_ENST00000450761.2_Missense_Mutation_p.G53S|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000509025.1_Intron|NREP_ENST00000455559.2_Missense_Mutation_p.G53S|STARD4-AS1_ENST00000513221.1_RNA|NREP_ENST00000453526.2_Missense_Mutation_p.G53S|NREP_ENST00000257435.7_Missense_Mutation_p.G53S|NREP_ENST00000508870.1_Missense_Mutation_p.G53S|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000446294.2_Missense_Mutation_p.G53S|NREP_ENST00000515855.1_3'UTR|NREP_ENST00000509427.1_Missense_Mutation_p.G53S|NREP_ENST00000419114.2_Missense_Mutation_p.G53S|NREP_ENST00000395634.3_Missense_Mutation_p.G97S|NREP_ENST00000509979.1_3'UTR NM_001142478.1 NP_001135950.1 Q16612 NP311_HUMAN neuronal regeneration related protein 53 cytoplasm TCACTGCTGCCCAGTGGAGTC 0.488000 44 80 0 0 0.008740 0 0 OBSCN 84033 broad.mit.edu 37 1 228467077 228467077 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:228467077C>T ENST00000570156.2 + 32 8689 c.8615C>T c.(8614-8616)tCc>tTc p.S2872F OBSCN_ENST00000422127.1_Missense_Mutation_p.S2443F|OBSCN_ENST00000284548.11_Missense_Mutation_p.S2443F|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.S1290F NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1872 Ig-like 28. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CGGACCTGCTCCACCATGACC 0.697000 27 101 0 0 0.008361 0 0 MOSPD3 64598 broad.mit.edu 37 7 100211217 100211217 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr7:100211217C>T ENST00000393950.2 + 3 681 c.399C>T c.(397-399)tcC>tcT p.S133S MOSPD3_ENST00000424091.2_Silent_p.S123S|MOSPD3_ENST00000379527.2_Silent_p.S133S|MOSPD3_ENST00000223054.4_Silent_p.S133S NM_023948.4 NP_076438.1 O75425 MSPD3_HUMAN motile sperm domain containing 3 133 MSP. integral to membrane structural molecule activity breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) ACATTACCTCCATTCTGAGAG 0.632000 13 81 0 0 0.002450 0 0 CAPN6 827 broad.mit.edu 37 X 110494267 110494267 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chrX:110494267G>A ENST00000324068.1 - 8 1203 c.1036C>T c.(1036-1038)Cct>Tct p.P346S CAPN6_ENST00000541758.1_Missense_Mutation_p.P91S NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 346 Domain III. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 CCAAAAATAGGGTTGTTCACA 0.483000 132 122 0 0 0.003610 0 0 SELE 6401 broad.mit.edu 37 1 169698340 169698340 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:169698340G>A ENST00000333360.7 - 7 1216 c.1077C>T c.(1075-1077)atC>atT p.I359I SELE_ENST00000367774.1_Silent_p.I359I|SELE_ENST00000367775.1_Silent_p.I297I|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Silent_p.I297I|SELE_ENST00000367777.1_Silent_p.I359I|SELE_ENST00000367779.4_Silent_p.I359I|SELE_ENST00000367782.4_Silent_p.I359I|SELE_ENST00000367781.4_Silent_p.I359I|SELE_ENST00000367776.1_Silent_p.I359I NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 359 Sushi 3. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) CACAAACTGGGATTTGCTGTG 0.438000 46 41 0 0 0.003610 0 0 PHOX2B 8929 broad.mit.edu 37 4 41747907 41747907 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr4:41747907C>T ENST00000226382.2 - 3 1221 c.862G>A c.(862-864)Ggg>Agg p.G288R NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 288 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 AAGGGACCCCCAAGCGAATCC 0.667000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 14 42 0 0 0.004990 0 0 MUC16 94025 broad.mit.edu 37 19 9046738 9046738 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr19:9046738C>T ENST00000397910.4 - 5 35096 c.34893G>A c.(34891-34893)gtG>gtA p.V11631V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11633 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.V11631V(1)|p.V7264V(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCTGTGAGGTCACTACCCCTG 0.527000 39 75 0 0 0.005524 0 0 FAM171B 165215 broad.mit.edu 37 2 187626884 187626884 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:187626884C>T ENST00000304698.5 + 8 2018 c.1815C>T c.(1813-1815)atC>atT p.I605I NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 605 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 AAGAGGATATCATACTTGAAG 0.478000 32 64 0 0 0.001786 0 0 GPR161 23432 broad.mit.edu 37 1 168066237 168066237 + Missense_Mutation SNP A A G TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:168066237A>G ENST00000367838.1 - 5 921 c.608T>C c.(607-609)gTc>gCc p.V203A GPR161_ENST00000367835.1_Missense_Mutation_p.V203A|GPR161_ENST00000546300.1_Missense_Mutation_p.V89A|GPR161_ENST00000361697.2_Missense_Mutation_p.V203A|GPR161_ENST00000537209.1_Missense_Mutation_p.V223A|GPR161_ENST00000539777.1_Missense_Mutation_p.V125A|GPR161_ENST00000367836.1_Missense_Mutation_p.V71A|GPR161_ENST00000271357.5_Missense_Mutation_p.V203A NM_001267611.1|NM_153832.2 NP_001254540.1|NP_722561.1 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 203 multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 all_hematologic(923;0.215) CACCAGCATGACCAGAAAGGG 0.587000 3 54 0 0 0.004672 0 0 NUPL2 11097 broad.mit.edu 37 7 23236306 23236306 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr7:23236306C>T ENST00000258742.5 + 5 789 c.530C>T c.(529-531)tCt>tTt p.S177F NM_007342.2 NP_031368.1 O15504 NUPL2_HUMAN nucleoporin like 2 177 carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CAGCTAAATTCTGTCCAACGT 0.308000 12 49 0 0 0.004007 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431951 140431951 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr5:140431951G>A ENST00000306549.3 + 1 973 c.896G>A c.(895-897)gGa>gAa p.G299E NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 299 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTCAAAATGGAGAAGTTCGA 0.468000 21 53 0 0 0.008871 0 0 GSDMC 56169 broad.mit.edu 37 8 130789639 130789639 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr8:130789639G>A ENST00000276708.4 - 2 1076 c.195C>T c.(193-195)atC>atT p.I65I NM_031415.2 NP_113603.1 Q9BYG8 GSDMC_HUMAN gasdermin C 65 mitochondrion autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 TTGGCTCCAGGATGTCATTGA 0.433000 12 46 0 0 0.000978 0 0 MOSPD3 64598 broad.mit.edu 37 7 100211216 100211216 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr7:100211216C>T ENST00000393950.2 + 3 680 c.398C>T c.(397-399)tCc>tTc p.S133F MOSPD3_ENST00000424091.2_Missense_Mutation_p.S123F|MOSPD3_ENST00000379527.2_Missense_Mutation_p.S133F|MOSPD3_ENST00000223054.4_Missense_Mutation_p.S133F NM_023948.4 NP_076438.1 O75425 MSPD3_HUMAN motile sperm domain containing 3 133 MSP. integral to membrane structural molecule activity breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GACATTACCTCCATTCTGAGA 0.632000 14 83 0 0 0.002450 0 0 LRP1B 53353 broad.mit.edu 37 2 141777614 141777614 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:141777614G>A ENST00000389484.3 - 12 2818 c.1847C>T c.(1846-1848)aCc>aTc p.T616I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 616 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GCCATCATTGGTCCAGTAAAG 0.398000 TSP Lung(27;0.18) 22 84 0 0 0.003330 0 0 SLC35F3 148641 broad.mit.edu 37 1 234367362 234367362 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:234367362G>A ENST00000366618.3 + 3 628 c.483G>A c.(481-483)agG>agA p.R161R SLC35F3_ENST00000366617.3_Silent_p.R92R NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 92 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) TGACCTTCAGGAAGTTCGACG 0.602000 42 215 0 0 0.003610 0 0 OR4M1 441670 broad.mit.edu 37 14 20248933 20248933 + Missense_Mutation SNP G G T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr14:20248933G>T ENST00000315957.4 + 1 533 c.452G>T c.(451-453)gGg>gTg p.G151V NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCCTGGATGGGGGGCTTCATT 0.498000 66 374 1.25706e-45 1.44355e-45 0.003610 1 0 CYTIP 9595 broad.mit.edu 37 2 158272504 158272504 + Missense_Mutation SNP C C T rs140145189 byFrequency TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:158272504C>T ENST00000264192.3 - 8 886 c.765G>A c.(763-765)atG>atA p.M255I CYTIP_ENST00000540637.1_Missense_Mutation_p.M149I NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 255 Ser-rich. regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 CTTCACTGTCCATCGTCATGG 0.567000 17 51 0 0 0.007413 0 0 WIPI1 55062 broad.mit.edu 37 17 66440649 66440649 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr17:66440649G>A ENST00000262139.5 - 4 414 c.415C>T c.(415-417)Cct>Tct p.P139S WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.P57S NM_017983.5 NP_060453.3 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 1 139 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 18 GGGTTTGCAGGAATATCCAGG 0.418000 26 47 0 0 0.007291 0 0 SDS 10993 broad.mit.edu 37 12 113836602 113836602 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr12:113836602G>A ENST00000257549.4 - 4 365 c.243C>T c.(241-243)gtC>gtT p.V81V NM_006843.2 NP_006834.2 P20132 SDHL_HUMAN serine dehydratase 81 gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process cytoplasm L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1) 11 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) TGGTGGCGGGGACGCCGAGTT 0.662000 8 14 0 0 0.003080 0 0 TTN 7273 broad.mit.edu 37 2 179484829 179484829 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:179484829C>T ENST00000589042.1 - 249 46539 c.46315G>A c.(46315-46317)Gaa>Aaa p.E15439K TTN_ENST00000359218.5_Missense_Mutation_p.E6499K|TTN_ENST00000342992.6_Missense_Mutation_p.E12871K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E6566K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E13798K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E6374K|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13798 Fibronectin type-III 12. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCATCTTTTTCAAATTTGTAT 0.363000 28 63 0 0 0.006320 0 0 PRSS35 167681 broad.mit.edu 37 6 84234103 84234103 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr6:84234103G>A ENST00000536636.1 + 3 1288 c.943G>A c.(943-945)Gat>Aat p.D315N PRSS35_ENST00000369700.3_Missense_Mutation_p.D315N NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 315 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) ATTTGATAACGATAGGGCTGA 0.473000 18 42 0 0 0.006122 0 0 NKAIN3 286183 broad.mit.edu 37 8 63659614 63659614 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr8:63659614G>A ENST00000523211.1 + 4 529 c.397G>A c.(397-399)Gtc>Atc p.V133I NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.V133I NM_173688.2 NP_775959.1 Q8N8D7 NKAI3_HUMAN Na+/K+ transporting ATPase interacting 3 133 integral to membrane|plasma membrane kidney(3)|large_intestine(2)|lung(8) 13 Breast(64;0.127) Lung NSC(129;0.187) TTACACGTACGTCTCTGTCAC 0.498000 15 64 0 0 0.004007 0 0 FAT4 79633 broad.mit.edu 37 4 126372503 126372503 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr4:126372503C>T ENST00000394329.3 + 9 10345 c.10332C>T c.(10330-10332)atC>atT p.I3444I FAT4_ENST00000335110.5_Silent_p.I1742I NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3444 Cadherin 33. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTTACTTCATCGGATCAGGGA 0.463000 39 83 0 0 0.006999 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54936379 54936379 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr12:54936379C>T ENST00000293373.6 + 31 3373 c.3294C>T c.(3292-3294)ttC>ttT p.F1098F NCKAP1L_ENST00000545638.2_Silent_p.F1048F NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 1098 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 AGTCATCCTTCCTGACCCTGG 0.527000 38 123 0 0 0.002222 0 0 IGHG4 3503 broad.mit.edu 37 14 106092128 106092128 + RNA SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr14:106092128G>A ENST00000390543.2 - 0 275 TGTCCACCTTGGTGTTGCTGG 0.627000 52 191 0 0 0.003610 0 0 SNRNP48 154007 broad.mit.edu 37 6 7601663 7601663 + Silent SNP C C T rs148291598 byFrequency TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr6:7601663C>T ENST00000342415.5 + 5 560 c.501C>T c.(499-501)ttC>ttT p.F167F NM_152551.3 NP_689764.3 Q6IEG0 SNR48_HUMAN small nuclear ribonucleoprotein 48kDa (U11/U12) 167 mRNA processing cytoplasm|U12-type spliceosomal complex metal ion binding kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 TCTATGATTTCGTAGTTGAGG 0.378000 34 64 0 0 0.003271 0 0 MYH15 22989 broad.mit.edu 37 3 108183656 108183656 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:108183656C>T ENST00000273353.3 - 16 1676 c.1620G>A c.(1618-1620)atG>atA p.M540I NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 540 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.M540I(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 AAAGGATGCCCATTGGCTGTT 0.423000 25 52 0 0 0.003330 0 0 MIR519E 574463 broad.mit.edu 37 19 54183226 54183226 + RNA SNP T T C TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr19:54183226T>C ENST00000385075.1 + 0 33 NR_030185.1 AGGGAGCACTTTCTGTTTGAA 0.398000 12 26 0 0 0.001855 0 0 SEMA7A 8482 broad.mit.edu 37 15 74706984 74706984 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr15:74706984G>A ENST00000261918.4 - 10 1746 c.1198C>T c.(1198-1200)Cca>Tca p.P400S SEMA7A_ENST00000542748.1_Missense_Mutation_p.P235S|SEMA7A_ENST00000543145.2_Missense_Mutation_p.P386S NM_003612.3 NP_003603.1 O75326 SEM7A_HUMAN semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) 400 Sema. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 30 TGGAACAATGGCGTCTTCAGA 0.587000 37 100 0 0 0.003755 0 0 GLRA3 8001 broad.mit.edu 37 4 175577931 175577931 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr4:175577931G>A ENST00000274093.3 - 9 1581 c.1079C>T c.(1078-1080)gCt>gTt p.A360V GLRA3_ENST00000340217.5_Intron NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 360 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) CAGTGCAAAAGCTTCTGTCTG 0.343000 12 11 0 0 0.004007 0 0 TLE4 7091 broad.mit.edu 37 9 82319812 82319812 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr9:82319812C>T ENST00000376520.4 + 9 1552 c.724C>T c.(724-726)Cgt>Tgt p.R242C TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.R242C|TLE4_ENST00000376544.3_Missense_Mutation_p.R242C|TLE4_ENST00000376552.2_Missense_Mutation_p.R242C|TLE4_ENST00000265284.6_Missense_Mutation_p.R217C O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 AATTGCAGCTCGTTATGTAAG 0.463000 36 43 0 0 0.004289 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502954 140502954 + Silent SNP C C T rs148427211 TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr5:140502954C>T ENST00000194152.1 + 1 1374 c.1374C>T c.(1372-1374)ttC>ttT p.F458F NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 458 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.F458F(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACACCCTGTTCGTCCGCGAGA 0.627000 36 94 0 0 0.003610 0 0 SLC35C2 51006 broad.mit.edu 37 20 44980727 44980727 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr20:44980727G>A ENST00000372227.1 - 8 1340 c.800C>T c.(799-801)aCc>aTc p.T267I SLC35C2_ENST00000243896.2_Missense_Mutation_p.T267I|SLC35C2_ENST00000372230.5_Missense_Mutation_p.T267I|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000543605.1_Missense_Mutation_p.T296I|SLC35C2_ENST00000372229.1_Missense_Mutation_p.T134I|SLC35C2_ENST00000317734.8_Missense_Mutation_p.T246I Q9NQQ7 S35C2_HUMAN solute carrier family 35 (GDP-fucose transporter), member C2 267 transport integral to membrane cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 16 Myeloproliferative disorder(115;0.0122) GAGGCTGGAGGTTCTGGAGAC 0.582000 13 49 0 0 0.001368 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319128 21319128 + Silent SNP C C T rs146165782 byFrequency TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr17:21319128C>T ENST00000583088.1 + 3 1369 c.474C>T c.(472-474)gcC>gcT p.A158A KCNJ12_ENST00000331718.5_Silent_p.A158A NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) GCCCGGTGGCCGTCTTCATGG 0.622000 Prostate(3;0.18) 8 48 0 0 0.003080 0 0 SUPT16H 11198 broad.mit.edu 37 14 21821654 21821654 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr14:21821654G>A ENST00000216297.2 - 25 3329 c.2991C>T c.(2989-2991)gcC>gcT p.A997A NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 997 Glu-rich (acidic). DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) AACCTTTTCGGGCTTCTTCCT 0.343000 33 75 0 0 0.003755 0 0 SERPINA12 145264 broad.mit.edu 37 14 94962730 94962730 + Nonsense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr14:94962730C>T ENST00000341228.2 - 4 1680 c.885G>A c.(883-885)tgG>tgA p.W295* SERPINA12_ENST00000556881.1_Nonsense_Mutation_p.W295* NM_173850.2 NP_776249.1 Q8IW75 SPA12_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 295 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) GTAATGTTTTCCATCTGGAGA 0.478000 34 77 0 0 0.002445 0 0 FGB 2244 broad.mit.edu 37 4 155486961 155486961 + Splice_Site SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr4:155486961G>A ENST00000302068.4 + 2 179 c.114_splice c.e2-1 p.G39_splice FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR NM_005141.4 NP_005132.2 P02675 FIBB_HUMAN fibrinogen beta chain 39 Missing (in New York-1). platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) TCCTTGTAGGGTTTCTTCAGT 0.473000 9 43 0 0 0.008291 0 0 COL4A1 1282 broad.mit.edu 37 13 110847436 110847436 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr13:110847436G>A ENST00000375820.4 - 22 1436 c.1315C>T c.(1315-1317)Cca>Tca p.P439S COL4A1_ENST00000543140.1_Missense_Mutation_p.P439S NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 439 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) TGGTCACCTGGAGGTCCGGGC 0.428000 21 22 0 0 0.002299 0 0 CPSF1 29894 broad.mit.edu 37 8 145625048 145625048 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr8:145625048G>A ENST00000349769.3 - 12 1266 c.1172C>T c.(1171-1173)tCc>tTc p.S391F NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa 391 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) GAGGAGGAGGGAATTGCCCAG 0.652000 8 17 0 0 0.006214 0 0 OR4B1 119765 broad.mit.edu 37 11 48238934 48238934 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:48238934C>T ENST00000309562.2 + 1 591 c.573C>T c.(571-573)ttC>ttT p.F191F NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 CTGACACCTTCATGGAGGGGG 0.453000 24 94 0 0 0.003330 0 0 LSM3 27258 broad.mit.edu 37 3 14239547 14239547 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:14239547G>A ENST00000306024.3 + 4 743 c.240G>A c.(238-240)cgG>cgA p.R80R NM_014463.2 NP_055278.1 P62310 LSM3_HUMAN LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) 80 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay catalytic step 2 spliceosome|cytosol protein binding|RNA binding p.R80R(1) central_nervous_system(1)|large_intestine(2)|ovary(1) 4 CAACGAAACGGAATATTCCAA 0.398000 15 51 0 0 0.003163 0 0 PARP8 79668 broad.mit.edu 37 5 50091235 50091235 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr5:50091235C>T ENST00000281631.5 + 12 1570 c.1412C>T c.(1411-1413)tCa>tTa p.S471L PARP8_ENST00000503750.2_Missense_Mutation_p.S471L|PARP8_ENST00000505697.2_Missense_Mutation_p.S471L|PARP8_ENST00000514067.2_Missense_Mutation_p.S471L|PARP8_ENST00000505554.1_Missense_Mutation_p.S450L|PARP8_ENST00000514342.2_Missense_Mutation_p.S224L|PARP8_ENST00000511363.2_3'UTR NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 471 Poly-Ser. intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) TCTTCATCTTCATCTTCTCAG 0.398000 15 43 0 0 0.003163 0 0 FRG2B 441581 broad.mit.edu 37 10 135438846 135438846 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr10:135438846G>A ENST00000443774.1 - 4 646 c.597C>T c.(595-597)atC>atT p.I199I FRG2B_ENST00000425520.1_Silent_p.I198I Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 198 nucleus endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) GTGGAGAATGGATCTGCTGTG 0.562000 20 20 0 0 0.003330 0 0 TTN 7273 broad.mit.edu 37 2 179640923 179640923 + Missense_Mutation SNP G G A rs146496197 byFrequency TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:179640923G>A ENST00000589042.1 - 28 5892 c.5668C>T c.(5668-5670)Cgc>Tgc p.R1890C TTN_ENST00000359218.5_Missense_Mutation_p.R1844C|TTN_ENST00000342992.6_Missense_Mutation_p.R1890C|TTN_ENST00000342175.6_Missense_Mutation_p.R1844C|TTN_ENST00000591111.1_Missense_Mutation_p.R1890C|TTN_ENST00000460472.2_Missense_Mutation_p.R1844C|TTN_ENST00000360870.5_Missense_Mutation_p.R1890C NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1605 Ig-like 9. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R1844C(3)|p.R1890C(2) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCATCATAGCGAACTCTGAAC 0.498000 70 200 0 0 0.003610 0 0 FLG 2312 broad.mit.edu 37 1 152282094 152282094 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:152282094C>T ENST00000368799.1 - 3 5303 c.5268G>A c.(5266-5268)ggG>ggA p.G1756G FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1756 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CAGACCTTTCCCCTGACTGGC 0.597000 Ichthyosis 192 183 0 0 0.003610 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 42 0 0 0.004672 0 0 MYO18B 84700 broad.mit.edu 37 22 26164488 26164488 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr22:26164488C>T ENST00000335473.7 + 4 855 c.605C>T c.(604-606)tCc>tTc p.S202F MYO18B_ENST00000407587.2_Missense_Mutation_p.S202F|MYO18B_ENST00000536101.1_Missense_Mutation_p.S202F NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 202 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCTTGTGGCTCCCAGGCCAGC 0.597000 5 8 0 0 0.001984 0 0 XIRP2 129446 broad.mit.edu 37 2 168114919 168114919 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:168114919G>A ENST00000409728.1 + 11 2051 c.1962G>A c.(1960-1962)atG>atA p.M654I XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.M621I|XIRP2_ENST00000409756.2_Missense_Mutation_p.M621I|XIRP2_ENST00000409605.1_Missense_Mutation_p.M399I|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.M654I NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2732 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TCAAAGAAATGAAAATGCCTg 0.383000 22 36 0 0 0.001523 0 0 DZIP1L 199221 broad.mit.edu 37 3 137787114 137787114 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:137787114G>A ENST00000327532.2 - 13 2073 c.1711C>T c.(1711-1713)Cca>Tca p.P571S NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like 571 intracellular zinc ion binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 CGAGTTGGTGGGGGTGGCTCT 0.667000 195 540 0 0 0.003610 0 0 SLC9C2 284525 broad.mit.edu 37 1 173517593 173517593 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:173517593C>T ENST00000367714.3 - 12 1818 c.1396G>A c.(1396-1398)Gaa>Aaa p.E466K SLC9C2_ENST00000536496.1_Missense_Mutation_p.E364K|SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 466 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity AAAATTTTTTCTGTTTTAAAT 0.348000 34 31 0 0 0.002836 0 0 WDFY3 23001 broad.mit.edu 37 4 85695995 85695995 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr4:85695995G>A ENST00000322366.6 - 29 5139 c.4732C>T c.(4732-4734)Cct>Tct p.P1578S WDFY3_ENST00000295888.4_Missense_Mutation_p.P1578S Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1578 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TTGCTGCTAGGAAAACCTTGC 0.378000 28 65 0 0 0.005443 0 0 FGR 2268 broad.mit.edu 37 1 27942047 27942047 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:27942047C>T ENST00000374005.3 - 9 1204 c.916G>A c.(916-918)Gag>Aag p.E306K FGR_ENST00000399173.1_Missense_Mutation_p.E306K|FGR_ENST00000545953.1_Missense_Mutation_p.E240K|FGR_ENST00000374004.1_Missense_Mutation_p.E306K NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 306 Protein kinase. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) ACCTGCGCCTCCTCCAGGAAG 0.622000 6 42 0 0 0.001168 0 0 LOXL2 4017 broad.mit.edu 37 8 23167234 23167234 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr8:23167234G>A ENST00000389131.3 - 10 2196 c.1827C>T c.(1825-1827)tcC>tcT p.S609S NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 609 Lysyl-oxidase like. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) GCCGGAAGTCGGACTGGCCAT 0.677000 16 22 0 0 0.004990 0 0 GRIA1 2890 broad.mit.edu 37 5 153144012 153144012 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr5:153144012C>T ENST00000285900.5 + 12 2185 c.1842C>T c.(1840-1842)atC>atT p.I614I GRIA1_ENST00000448073.4_Silent_p.I624I|GRIA1_ENST00000518783.1_Silent_p.I624I|GRIA1_ENST00000521843.2_Silent_p.I545I|GRIA1_ENST00000340592.5_Silent_p.I614I|GRIA1_ENST00000518142.1_Silent_p.I534I NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 614 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CTGGTCGCATCGTTGGTGGCG 0.572000 22 66 0 0 0.003954 0 0 TACC1 6867 broad.mit.edu 37 8 38699875 38699875 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr8:38699875C>T ENST00000379931.3 + 11 2446 c.2067C>T c.(2065-2067)gcC>gcT p.A689A TACC1_ENST00000520973.1_Silent_p.A453A|TACC1_ENST00000330691.6_Silent_p.A251A|TACC1_ENST00000443286.2_Silent_p.A664A|TACC1_ENST00000348567.4_Silent_p.A239A|TACC1_ENST00000520615.1_Silent_p.A482A|TACC1_ENST00000518415.1_Silent_p.A603A|TACC1_ENST00000520611.1_Silent_p.A114A|TACC1_ENST00000317827.4_Silent_p.A677A|TACC1_ENST00000276520.8_Silent_p.A267A|TACC1_ENST00000519416.1_Silent_p.A481A O75410 TACC1_HUMAN transforming, acidic coiled-coil containing protein 1 677 cell cycle|cell division intermediate filament cytoskeleton|microtubule organizing center|nucleus protein binding breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3) 17 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065) LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235) AGGAACAGGCCCTGGCTGACC 0.458000 25 144 0 0 0.002780 0 0 TRIM3 10612 broad.mit.edu 37 11 6477304 6477304 + Nonsense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:6477304G>A ENST00000525074.1 - 7 1925 c.1531C>T c.(1531-1533)Cag>Tag p.Q511* TRIM3_ENST00000345851.3_Nonsense_Mutation_p.Q511*|TRIM3_ENST00000537602.1_Nonsense_Mutation_p.Q433*|TRIM3_ENST00000536344.1_Nonsense_Mutation_p.Q392*|TRIM3_ENST00000359518.3_Nonsense_Mutation_p.Q511* NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 511 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTGCTTACCTGAATACACTGG 0.493000 15 46 0 0 0.004990 0 0 COL6A6 131873 broad.mit.edu 37 3 130345357 130345357 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:130345357G>A ENST00000358511.6 + 24 4938 c.4907G>A c.(4906-4908)gGa>gAa p.G1636E COL6A6_ENST00000453409.2_Missense_Mutation_p.G1636E NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1636 Triple-helical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GGAGAAAAAGGAGCTGTTGGC 0.418000 26 73 0 0 0.008361 0 0 LDHAL6A 160287 broad.mit.edu 37 11 18485507 18485507 + Splice_Site SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:18485507G>A ENST00000280706.2 + 2 923 c.e2-1 LDHAL6A_ENST00000396213.3_Splice_Site NM_144972.4 NP_659409.2 Q6ZMR3 LDH6A_HUMAN lactate dehydrogenase A-like 6A glycolysis cytoplasm binding|L-lactate dehydrogenase activity large_intestine(3)|lung(9)|urinary_tract(1) 13 NADH(DB00157) ATGTTTTTCAGGGTTTGAGTG 0.383000 16 32 0 0 0.004990 0 0 ZBBX 79740 broad.mit.edu 37 3 166960418 166960418 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:166960418C>T ENST00000392766.2 - 20 2491 c.2151G>A c.(2149-2151)aaG>aaA p.K717K ZBBX_ENST00000392764.1_Silent_p.K688K|ZBBX_ENST00000455345.2_Silent_p.K756K|ZBBX_ENST00000307529.5_Silent_p.K756K|ZBBX_ENST00000392767.2_Silent_p.K717K NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 717 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 AGCTGTAAAGCTTTTCTGAAG 0.353000 10 30 0 0 0.006214 0 0 ENAM 10117 broad.mit.edu 37 4 71503529 71503529 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr4:71503529G>A ENST00000396073.3 + 8 838 c.557G>A c.(556-558)gGa>gAa p.G186E ENAM_ENST00000472903.1_3'UTR NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 186 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) CCAGGTTATGGACGCCCACCA 0.453000 46 120 0 0 0.003610 0 0 FLG 2312 broad.mit.edu 37 1 152276755 152276755 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:152276755C>T ENST00000368799.1 - 3 10642 c.10607G>A c.(10606-10608)gGa>gAa p.G3536E FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3536 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AACACTGGATCCCTGGTTCCT 0.577000 Ichthyosis 152 166 0 0 0.003610 0 0 CABP4 57010 broad.mit.edu 37 11 67223069 67223069 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:67223069G>A ENST00000325656.5 + 1 252 c.175G>A c.(175-177)Ggg>Agg p.G59R CABP4_ENST00000438189.2_Intron|CABP4_ENST00000542025.2_3'UTR NM_145200.3 NP_660201.1 P57796 CABP4_HUMAN calcium binding protein 4 59 visual perception cytoplasm|extracellular region|terminal button calcium ion binding central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) TGGCAGCTCTGGGGAGCAGAC 0.687000 8 17 0 0 0.003080 0 0 NKTR 4820 broad.mit.edu 37 3 42680879 42680879 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:42680879C>T ENST00000232978.8 + 13 3871 c.3683C>T c.(3682-3684)cCc>cTc p.P1228L RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1228 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) AAATGGAAGCCCCTGCAAGGT 0.527000 18 66 0 0 0.008871 0 0 MUC4 4585 broad.mit.edu 37 3 195493597 195493597 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:195493597G>A ENST00000463781.3 - 8 14014 c.13555C>T c.(13555-13557)Cca>Tca p.P4519S MUC4_ENST00000349607.4_Missense_Mutation_p.P232S|MUC4_ENST00000346145.4_Missense_Mutation_p.P283S|MUC4_ENST00000475231.1_Missense_Mutation_p.P4467S NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1276 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GACATCAGTGGGCTGTTTTCG 0.537000 12 33 0 0 0.003163 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134471740 134471740 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr9:134471740G>A ENST00000372195.1 - 14 2370 c.2127C>T c.(2125-2127)gtC>gtT p.V709V RAPGEF1_ENST00000372189.3_Silent_p.V692V|RAPGEF1_ENST00000372190.3_Silent_p.V710V Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 692 N-terminal Ras-GEF. activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) ATCCTCCGCGGACGTCCGGCC 0.542000 6 9 0 0 0.006214 0 0 TPX2 22974 broad.mit.edu 37 20 30381768 30381768 + Nonsense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr20:30381768C>T ENST00000340513.4 + 15 2263 c.1735C>T c.(1735-1737)Cga>Tga p.R579* TPX2_ENST00000300403.6_Nonsense_Mutation_p.R543* Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated 543 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) GTTTGATTCTCGAGACAAAGA 0.418000 34 80 0 0 0.002836 0 0 ADCY3 109 broad.mit.edu 37 2 25057785 25057785 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:25057785G>A ENST00000260600.5 - 9 2534 c.1683C>T c.(1681-1683)ccC>ccT p.P561P ADCY3_ENST00000405392.1_Silent_p.P194P NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 561 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) GGCGTGGGTTGGGGAATGAGG 0.642000 11 22 0 0 0.001368 0 0 RGL1 23179 broad.mit.edu 37 1 183775610 183775610 + Missense_Mutation SNP A A T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:183775610A>T ENST00000304685.3 + 3 695 c.234A>T c.(232-234)agA>agT p.R78S RGL1_ENST00000360851.3_Missense_Mutation_p.R43S|RGL1_ENST00000367531.1_Missense_Mutation_p.R78S|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000539189.1_Missense_Mutation_p.R43S NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 43 N-terminal Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 AAGGAGCAAGATGGCTAGGGG 0.453000 23 103 0 0 0.001882 0 0 MEIS3 56917 broad.mit.edu 37 19 47910355 47910355 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr19:47910355G>A ENST00000331559.5 - 10 1503 c.1062C>T c.(1060-1062)atC>atT p.I354I MEIS3_ENST00000561293.1_Silent_p.I371I|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000561096.1_Silent_p.I413I|MEIS3_ENST00000559524.1_Silent_p.I371I|MEIS3_ENST00000558555.1_Silent_p.I325I|MEIS3_ENST00000441740.2_Silent_p.I308I NM_020160.2 NP_064545.1 Q99687 MEIS3_HUMAN Meis homeobox 3 325 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2) 20 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) TGGATTGATCGATCATAGGTT 0.612000 8 32 0 0 0.006214 0 0 INTS4P1 285905 broad.mit.edu 37 7 64639749 64639749 + RNA SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr7:64639749C>T ENST00000587624.1 + 0 632 GCCTTGATTTCCTAGTTGACA 0.443000 4 18 0 0 0.001168 0 0 KCNG4 93107 broad.mit.edu 37 16 84270876 84270876 + Silent SNP G G A rs141435784 TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr16:84270876G>A ENST00000568181.1 - 2 336 c.216C>T c.(214-216)ctC>ctT p.L72L KCNG4_ENST00000308251.4_Silent_p.L72L Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 72 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 TGCTCCAGGGGAGGAGATACC 0.617000 24 35 0 0 0.003954 0 0 RGS18 64407 broad.mit.edu 37 1 192153683 192153683 + Nonstop_Mutation SNP A A T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr1:192153683A>T ENST00000367460.3 + 5 888 c.707A>T c.(706-708)tAa>tTa p.*236L NM_130782.2 NP_570138.1 Q9NS28 RGS18_HUMAN regulator of G-protein signaling 18 0 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ATTTGGTTATAAAGAAAATTG 0.348000 6 47 0 0 0.001168 0 0 ENAM 10117 broad.mit.edu 37 4 71510396 71510396 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr4:71510396G>A ENST00000396073.3 + 9 3534 c.3253G>A c.(3253-3255)Gat>Aat p.D1085N ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 1085 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) ATTTGATGGGGATTCAATTAC 0.428000 16 61 0 0 0.004007 0 0 MYH13 8735 broad.mit.edu 37 17 10212703 10212703 + Missense_Mutation SNP C C T rs140856441 by1000genomes TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr17:10212703C>T ENST00000418404.3 - 34 5180 c.5017G>A c.(5017-5019)Gag>Aag p.E1673K MYH13_ENST00000570743.1_Missense_Mutation_p.E1673K|MYH13_ENST00000252172.4_Missense_Mutation_p.E1673K Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1673 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GCCAGCTGCTCCTTGAGGTCC 0.657000 11 14 0 0 0.008291 0 0 ATRNL1 26033 broad.mit.edu 37 10 117001393 117001393 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr10:117001393C>T ENST00000355044.3 + 10 1692 c.1566C>T c.(1564-1566)taC>taT p.Y522Y NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 522 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TTGCCAGATACCTTCATTCAG 0.333000 14 30 0 0 0.003163 0 0 RASGRF1 5923 broad.mit.edu 37 15 79296400 79296400 + Missense_Mutation SNP C C G TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr15:79296400C>G ENST00000419573.3 - 16 2515 c.2241G>C c.(2239-2241)aaG>aaC p.K747N RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.K731N NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 747 N-terminal Ras-GEF. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GTGACGATGTCTTGGTGATGG 0.637000 37 83 0 0 0.005524 0 0 CLIP2 7461 broad.mit.edu 37 7 73814775 73814775 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr7:73814775C>T ENST00000223398.6 + 15 3283 c.2956C>T c.(2956-2958)Ctg>Ttg p.L986L CLIP2_ENST00000361545.5_Silent_p.L951L|CLIP2_ENST00000395060.1_Silent_p.L986L NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 986 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 GCTTCTGCGGCTGCAGCACCA 0.632000 12 29 0 0 0.001368 0 0 IGKV1D-17 28900 broad.mit.edu 37 2 90121877 90121877 + RNA SNP C C A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr2:90121877C>A ENST00000483379.1 + 0 276 TCTCCATCTGCCATGTCTGCA 0.448000 50 146 6.3008e-33 7.21571e-33 0.003610 1 0 PRR11 55771 broad.mit.edu 37 17 57262485 57262485 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr17:57262485C>T ENST00000262293.4 + 3 511 c.199C>T c.(199-201)Cct>Tct p.P67S NM_018304.3 NP_060774.2 Q96HE9 PRR11_HUMAN proline rich 11 67 breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1) 16 Medulloblastoma(34;0.0922)|all_neural(34;0.101) CTTCAATTTTCCTAACATCAG 0.373000 24 72 0 0 0.003330 0 0 OR8H2 390151 broad.mit.edu 37 11 55872707 55872707 + Silent SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:55872707C>T ENST00000313503.1 + 1 189 c.189C>T c.(187-189)ttC>ttT p.F63F NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) TGTATTTTTTCCTTACTCACC 0.418000 HNSCC(53;0.14) 60 209 0 0 0.003610 0 0 LAMA1 284217 broad.mit.edu 37 18 6962005 6962005 + Missense_Mutation SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr18:6962005G>A ENST00000389658.3 - 52 7484 c.7391C>T c.(7390-7392)tCc>tTc p.S2464F NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2464 Laminin G-like 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTTGATCTGGATATTTCCAG 0.393000 40 90 0 0 0.002522 0 0 ZNF878 729747 broad.mit.edu 37 19 12155673 12155673 + Missense_Mutation SNP A A C TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr19:12155673A>C ENST00000602107.1 - 5 683 c.684T>G c.(682-684)agT>agG p.S228R ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAAACTGAATGCTT 0.403000 4 269 0 0 0.000248 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140762923 140762923 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr5:140762923C>T ENST00000518325.1 + 1 457 c.457C>T c.(457-459)Ccg>Tcg p.P153S PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTTCGGTTTCCGTTAAGCGA 0.473000 20 35 0 0 0.007413 0 0 VARS 7407 broad.mit.edu 37 6 31760655 31760655 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr6:31760655G>A ENST00000375663.3 - 4 980 c.540C>T c.(538-540)gcC>gcT p.A180A VARS_ENST00000444930.2_5'UTR NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 180 GST C-terminal. translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) AGATCCGGCGGGCAGGTGGGT 0.542000 42 164 0 0 0.003214 0 0 COPS2 9318 broad.mit.edu 37 15 49437178 49437178 + Missense_Mutation SNP A A G TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr15:49437178A>G ENST00000388901.5 - 2 225 c.152T>C c.(151-153)tTa>tCa p.L51S COPS2_ENST00000299259.6_Missense_Mutation_p.L51S|COPS2_ENST00000542928.1_Intron NM_001143887.1|NM_004236.3 NP_001137359.1|NP_004227.1 P61201 CSN2_HUMAN COP9 signalosome subunit 2 51 cullin deneddylation|transcription from RNA polymerase II promoter cytoplasm|signalosome protein binding|signal transducer activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2) 18 all_lung(180;0.0428) all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05) GAAACTGCTTAATGCCGCTTT 0.328000 21 67 0 0 0.001523 0 0 FGF12 2257 broad.mit.edu 37 3 192125997 192125997 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:192125997C>T ENST00000454309.2 - 1 841 c.16G>A c.(16-18)Gcc>Acc p.A6T FGF12_ENST00000450716.1_Intron|FGF12_ENST00000264730.3_Intron|FGF12_ENST00000430714.1_Intron|FGF12_ENST00000445105.1_Intron NM_021032.4 NP_066360.1 P61328 FGF12_HUMAN fibroblast growth factor 12 6 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) AAGGAGCTGGCTATCGCCGCA 0.716000 8 18 0 0 0.006214 0 0 NXF1 10482 broad.mit.edu 37 11 62569486 62569486 + Silent SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr11:62569486G>A ENST00000531709.2 - 5 599 c.486C>T c.(484-486)ttC>ttT p.F162F NXF1_ENST00000531131.1_5'UTR|NXF1_ENST00000294172.2_Silent_p.F162F|NXF1_ENST00000439713.2_Silent_p.F162F|NXF1_ENST00000532297.1_Silent_p.F162F NM_001081491.1 NP_001074960.1 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 162 Interaction with THOC4.|RRM. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CGTCTTCAACGAAGAACTGGG 0.522000 32 93 0 0 0.001786 0 0 MPP6 51678 broad.mit.edu 37 7 24703288 24703288 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr7:24703288C>T ENST00000396475.2 + 7 1030 c.731C>T c.(730-732)tCc>tTc p.S244F MPP6_ENST00000222644.4_Missense_Mutation_p.S244F|MPP6_ENST00000409761.1_Missense_Mutation_p.S132F NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 244 SH3. protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 TTGAAGTTTTCCAAAGGAGAG 0.338000 17 57 0 0 0.004007 0 0 BAGE2 85319 broad.mit.edu 37 21 11047540 11047540 + RNA SNP G G A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr21:11047540G>A ENST00000470054.1 - 0 714 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CAAAAAGTATGATACCCTTTG 0.328000 9 326 0 0 0.008291 0 0 KANK3 256949 broad.mit.edu 37 19 8389978 8389978 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr19:8389978C>T ENST00000330915.3 - 8 2004 c.1939G>A c.(1939-1941)Gcc>Acc p.A647T KANK3_ENST00000593649.1_Missense_Mutation_p.A647T NM_198471.2 NP_940873.2 Q6NY19 KANK3_HUMAN KN motif and ankyrin repeat domains 3 647 breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 ACCTCGCAGGCCCCTGGGAGA 0.642000 8 32 0 0 0.003080 0 0 ANGEL1 23357 broad.mit.edu 37 14 77269745 77269745 + Silent SNP G G A rs149469500 byFrequency TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr14:77269745G>A ENST00000251089.2 - 7 1699 c.1587C>T c.(1585-1587)gtC>gtT p.V529V ANGEL1_ENST00000557179.1_Silent_p.V94V NM_015305.3 NP_056120.2 Q9UNK9 ANGE1_HUMAN angel homolog 1 (Drosophila) 529 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) CTTCCATAAGGACCAGTCCTA 0.473000 8 55 0 0 0.006214 0 0 XPC 7508 broad.mit.edu 37 3 14219966 14219968 + Splice_Site DEL CCT CCT - rs72561774 TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr3:14219966_14219968delCCT ENST00000285021.7 - 1 315_317 c.103_splice c.e1+1 p.ED34_splice LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Splice_Site_p.ED34_splice NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 34 Glu-rich (acidic).|Poly-Glu. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding p.E34delE(1) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCGCTCTCACCCTCCTCCTCCTC 0.734 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 9 73 --- --- --- --- FAM149A 25854 broad.mit.edu 37 4 187074920 187074921 + Frame_Shift_Del DEL AG AG - TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr4:187074920_187074921delAG ENST00000356371.5 + 5 1081_1082 c.1081_1082delAG c.(1081-1083)afs p.R361fs FAM149A_ENST00000227065.4_Frame_Shift_Del_p.R70fs|FAM149A_ENST00000514153.1_Frame_Shift_Del_p.R70fs|FAM149A_ENST00000389354.5_Frame_Shift_Del_p.R70fs|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000502970.1_Frame_Shift_Del_p.R70fs|FAM149A_ENST00000503432.1_Frame_Shift_Del_p.R70fs A5PLN7 F149A_HUMAN family with sequence similarity 149, member A 361 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2) 25 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) CAGCAACATCAGAGAGTATGTT 0.485 39 131 --- --- --- --- GUSB 2990 broad.mit.edu 37 7 65447032 65447048 + Frame_Shift_Del DEL AGCTCCAGAGGCCGTCC AGCTCCAGAGGCCGTCC - TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr7:65447032_65447048delAGCTCCAGAGGCCGTCC ENST00000304895.4 - 1 253_269 c.123_139delGGACGGCCTCTGGAGCT c.(121-141)cttcfs p.LDGLWSF41fs GUSB_ENST00000345660.6_Frame_Shift_Del_p.LDGLWSF41fs|GUSB_ENST00000421103.1_Frame_Shift_Del_p.LDGLWSF41fs NM_000181.3 NP_000172.2 P08236 BGLR_HUMAN glucuronidase, beta 41 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1) 20 TCGGCGCGGAAGCTCCAGAGGCCGTCCAGCTCCTTGC 0.733 10 42 --- --- --- --- PRKAR2B 5577 broad.mit.edu 37 7 106685616 106685618 + In_Frame_Del DEL GGA GGA - TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr7:106685616_106685618delGGA ENST00000265717.4 + 1 523_525 c.264_266delGGA c.(262-267)ggg>gg p.GE88del NM_002736.2 NP_002727.2 P31323 KAP3_HUMAN protein kinase, cAMP-dependent, regulatory, type II, beta 88 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 14 CCGAGGACGGGGAGGAGGAGGAG 0.754 2 4 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149518533 149518533 + RNA DEL C C - rs11353848 TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr7:149518533delC ENST00000378016.2 + 0 12602 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GAGGAGCAGTCCCAGAGCCAG 0.711 3 4 --- --- --- --- GSN 2934 broad.mit.edu 37 9 124093745 124093745 + Frame_Shift_Del DEL G G - TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr9:124093745delG ENST00000373807.1 + 12 2400 c.1391delG c.(1390-1392)tgfs p.W464fs GSN_ENST00000412819.1_Intron|GSN_ENST00000373818.4_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000373806.1_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000373808.2_Intron P06396 GELS_HUMAN gelsolin 0 Actin-binding, Ca-sensitive (Potential). actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1) 21 CCGAGTGCCTGGGGGCGGGGG 0.562 2 4 --- --- --- --- GOSR2 9570 broad.mit.edu 37 17 45017950 45017950 + Frame_Shift_Del DEL T T - TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr17:45017950delT ENST00000225567.4 + 7 644 c.613delT c.(613-615)ttfs p.F205fs RP11-156P1.2_ENST00000571841.1_Intron|GOSR2_ENST00000439730.2_Intron NM_054022.2 NP_473363.1 O14653 GOSR2_HUMAN golgi SNAP receptor complex member 2 0 cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport Golgi membrane|integral to membrane transporter activity kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(9;0.102) GACAGCACACTTTGGAGGAAG 0.542 OREG0024493 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 105 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20243404 20243405 + RNA DEL AC AC - TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8fa4fa2-b533-4d77-8522-ee29bbf2cb94 d574b360-78b4-4cfb-9c89-90acbff0a4b7 g.chr19:20243404_20243405delAC ENST00000590606.1 - 0 188 CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA TCCCTGGAAAACACACACACAC 0.411 7 68 --- --- --- ---